Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45507549_45508213del | CA2741808835 | MMACHC | c.275_278del c.104_107del c.82-663_83del | |
1 | g.45508151T>C | CA2743432178 | MMACHC | c.277-61T>C (n.277-61T>C) c.106-61T>C (n.106-61T>C) c.82-61T>C (n.82-61T>C) | |
1 | g.45508152C>A | CA2566842093 | MMACHC | c.277-60C>A (n.277-60C>A) c.106-60C>A (n.106-60C>A) c.82-60C>A (n.82-60C>A) | |
1 | g.45508152C= | CA2473783323 | MMACHC | c.277-60C= (n.277-60C=) c.106-60C= (n.106-60C=) c.82-60C= (n.82-60C=) | |
1 | g.45508152C>T | CA21829249 | MMACHC | c.277-60C>T (n.277-60C>T) c.106-60C>T (n.106-60C>T) c.82-60C>T (n.82-60C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508153G>A | CA522810644 | MMACHC | c.277-59G>A (n.277-59G>A) c.106-59G>A (n.106-59G>A) c.82-59G>A (n.82-59G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.45508153G= | CA2473783324 | MMACHC | c.277-59G= (n.277-59G=) c.106-59G= (n.106-59G=) c.82-59G= (n.82-59G=) | |
1 | g.45508154G>A | CA736189815 | MMACHC | c.277-58G>A (n.277-58G>A) c.106-58G>A (n.106-58G>A) c.82-58G>A (n.82-58G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508154G= | CA2473783325 | MMACHC | c.277-58G= (n.277-58G=) c.106-58G= (n.106-58G=) c.82-58G= (n.82-58G=) | |
1 | g.45508157_45508269dup | CA2743432180 | MMACHC | c.277-55_334dup c.106-55_163dup c.82-55_139dup | |
1 | g.45508156C>A | CA2645391233 | MMACHC | c.277-56C>A (n.277-56C>A) c.106-56C>A (n.106-56C>A) c.82-56C>A (n.82-56C>A) | gnomAD v4 |
1 | g.45508157A>G | CA2645391234 | MMACHC | c.277-55A>G (n.277-55A>G) c.106-55A>G (n.106-55A>G) c.82-55A>G (n.82-55A>G) | gnomAD v4 |
1 | g.45508160G>T | CA2574352246 | MMACHC | c.277-52G>T (n.277-52G>T) c.106-52G>T (n.106-52G>T) c.82-52G>T (n.82-52G>T) | |
1 | g.45508161T>C | CA827684 | MMACHC | c.277-51T>C (n.277-51T>C) c.106-51T>C (n.106-51T>C) c.82-51T>C (n.82-51T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508161T= | CA2473783326 | MMACHC | c.277-51T= (n.277-51T=) c.106-51T= (n.106-51T=) c.82-51T= (n.82-51T=) | |
1 | g.45508162C>A | CA2645391235 | MMACHC | c.277-50C>A (n.277-50C>A) c.106-50C>A (n.106-50C>A) c.82-50C>A (n.82-50C>A) | gnomAD v4 |
1 | g.45508162C>G | CA2645391236 | MMACHC | c.277-50C>G (n.277-50C>G) c.106-50C>G (n.106-50C>G) c.82-50C>G (n.82-50C>G) | gnomAD v4 |
1 | g.45508163A= | CA1140927223 | MMACHC | c.277-49A= (n.277-49A=) c.106-49A= (n.106-49A=) c.82-49A= (n.82-49A=) | |
1 | g.45508163A>C | CA1001243509 | MMACHC | c.277-49A>C (n.277-49A>C) c.106-49A>C (n.106-49A>C) c.82-49A>C (n.82-49A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508163A>G | CA827685 | MMACHC | c.277-49A>G (n.277-49A>G) c.106-49A>G (n.106-49A>G) c.82-49A>G (n.82-49A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508164T>C | CA2645391237 | MMACHC | c.277-48T>C (n.277-48T>C) c.106-48T>C (n.106-48T>C) c.82-48T>C (n.82-48T>C) | gnomAD v4 |
1 | g.45508165A= | CA1148439842 | MMACHC | c.277-47A= (n.277-47A=) c.106-47A= (n.106-47A=) c.82-47A= (n.82-47A=) | |
1 | g.45508165A>G | CA827686 | MMACHC | c.277-47A>G (n.277-47A>G) c.106-47A>G (n.106-47A>G) c.82-47A>G (n.82-47A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508166A= | CA2473783327 | MMACHC | c.277-46A= (n.277-46A=) c.106-46A= (n.106-46A=) c.82-46A= (n.82-46A=) | |
1 | g.45508166A>C | CA2473783328 | MMACHC | c.277-46A>C (n.277-46A>C) c.106-46A>C (n.106-46A>C) c.82-46A>C (n.82-46A>C) | dbSNP |
1 | g.45508167C>T | CA2645391238 | MMACHC | c.277-45C>T (n.277-45C>T) c.106-45C>T (n.106-45C>T) c.82-45C>T (n.82-45C>T) | gnomAD v4 |
1 | g.45508168T>C | CA2645391239 | MMACHC | c.277-44T>C (n.277-44T>C) c.106-44T>C (n.106-44T>C) c.82-44T>C (n.82-44T>C) | gnomAD v4 |
1 | g.45508169C>A | CA2574352247 | MMACHC | c.277-43C>A (n.277-43C>A) c.106-43C>A (n.106-43C>A) c.82-43C>A (n.82-43C>A) | |
1 | g.45508170C>A | CA2645391240 | MMACHC | c.277-42C>A (n.277-42C>A) c.106-42C>A (n.106-42C>A) c.82-42C>A (n.82-42C>A) | gnomAD v4 |
1 | g.45508172C= | CA1143944016 | MMACHC | c.277-40C= (n.277-40C=) c.106-40C= (n.106-40C=) c.82-40C= (n.82-40C=) | |
1 | g.45508172C>T | CA827687 | MMACHC | c.277-40C>T (n.277-40C>T) c.106-40C>T (n.106-40C>T) c.82-40C>T (n.82-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508174C= | CA1143451742 | MMACHC | c.277-38C= (n.277-38C=) c.106-38C= (n.106-38C=) c.82-38C= (n.82-38C=) | |
1 | g.45508174C>T | CA21829257 | MMACHC | c.277-38C>T (n.277-38C>T) c.106-38C>T (n.106-38C>T) c.82-38C>T (n.82-38C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508175A>G | CA2645391241 | MMACHC | c.277-37A>G (n.277-37A>G) c.106-37A>G (n.106-37A>G) c.82-37A>G (n.82-37A>G) | gnomAD v4 |
1 | g.45508176T>A | CA522810645 | MMACHC | c.277-36T>A (n.277-36T>A) c.106-36T>A (n.106-36T>A) c.82-36T>A (n.82-36T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508176T>C | CA522810646 | MMACHC | c.277-36T>C (n.277-36T>C) c.106-36T>C (n.106-36T>C) c.82-36T>C (n.82-36T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508176T>G | CA1001243518 | MMACHC | c.277-36T>G (n.277-36T>G) c.106-36T>G (n.106-36T>G) c.82-36T>G (n.82-36T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508176T= | CA2473783329 | MMACHC | c.277-36T= (n.277-36T=) c.106-36T= (n.106-36T=) c.82-36T= (n.82-36T=) | |
1 | g.45508177G>A | CA2574352248 | MMACHC | c.277-35G>A (n.277-35G>A) c.106-35G>A (n.106-35G>A) c.82-35G>A (n.82-35G>A) | gnomAD v4 |
1 | g.45508178C= | CA2473783330 | MMACHC | c.277-34C= (n.277-34C=) c.106-34C= (n.106-34C=) c.82-34C= (n.82-34C=) | |
1 | g.45508178C>T | CA522810647 | MMACHC | c.277-34C>T (n.277-34C>T) c.106-34C>T (n.106-34C>T) c.82-34C>T (n.82-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508180G>A | CA2645391242 | MMACHC | c.277-32G>A (n.277-32G>A) c.106-32G>A (n.106-32G>A) c.82-32G>A (n.82-32G>A) | gnomAD v4 |
1 | g.45508181A>G | CA2645391243 | MMACHC | c.277-31A>G (n.277-31A>G) c.106-31A>G (n.106-31A>G) c.82-31A>G (n.82-31A>G) | gnomAD v4 |
1 | g.45508182C= | CA2473783331 | MMACHC | c.277-30C= (n.277-30C=) c.106-30C= (n.106-30C=) c.82-30C= (n.82-30C=) | |
1 | g.45508182C>T | CA522810648 | MMACHC | c.277-30C>T (n.277-30C>T) c.106-30C>T (n.106-30C>T) c.82-30C>T (n.82-30C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508183A= | CA1143512230 | MMACHC | c.277-29A= (n.277-29A=) c.106-29A= (n.106-29A=) c.82-29A= (n.82-29A=) | |
1 | g.45508183A>G | CA21829258 | MMACHC | c.277-29A>G (n.277-29A>G) c.106-29A>G (n.106-29A>G) c.82-29A>G (n.82-29A>G) | dbSNP gnomAD v4 |
1 | g.45508184G>A | CA2574352249 | MMACHC | c.277-28G>A (n.277-28G>A) c.106-28G>A (n.106-28G>A) c.82-28G>A (n.82-28G>A) | dbSNP gnomAD v4 |
1 | g.45508184G>C | CA2645391244 | MMACHC | c.277-28G>C (n.277-28G>C) c.106-28G>C (n.106-28G>C) c.82-28G>C (n.82-28G>C) | gnomAD v4 |
1 | g.45508185T>A | CA2645391245 | MMACHC | c.277-27T>A (n.277-27T>A) c.106-27T>A (n.106-27T>A) c.82-27T>A (n.82-27T>A) | gnomAD v4 |
1 | g.45508185T>C | CA827688 | MMACHC | c.277-27T>C (n.277-27T>C) c.106-27T>C (n.106-27T>C) c.82-27T>C (n.82-27T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508185T= | CA2473783332 | MMACHC | c.277-27T= (n.277-27T=) c.106-27T= (n.106-27T=) c.82-27T= (n.82-27T=) | |
1 | g.45508188C>A | CA827689 | MMACHC | c.277-24C>A (n.277-24C>A) c.106-24C>A (n.106-24C>A) c.82-24C>A (n.82-24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508188C= | CA2473783333 | MMACHC | c.277-24C= (n.277-24C=) c.106-24C= (n.106-24C=) c.82-24C= (n.82-24C=) | |
1 | g.45508189_45508192del | CA2574352250 | MMACHC | c.277-23_277-20del (n.277-23_277-20del) c.106-23_106-20del (n.106-23_106-20del) c.82-23_82-20del (n.82-23_82-20del) | gnomAD v4 |
1 | g.45508191C= | CA2473783334 | MMACHC | c.277-21C= (n.277-21C=) c.106-21C= (n.106-21C=) c.82-21C= (n.82-21C=) | |
1 | g.45508191C>G | CA827690 | MMACHC | c.277-21C>G (n.277-21C>G) c.106-21C>G (n.106-21C>G) c.82-21C>G (n.82-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508192T>C | CA2645391246 | MMACHC | c.277-20T>C (n.277-20T>C) c.106-20T>C (n.106-20T>C) c.82-20T>C (n.82-20T>C) | ClinVar gnomAD v4 |
1 | g.45508193A= | CA2473783335 | MMACHC | c.277-19A= (n.277-19A=) c.106-19A= (n.106-19A=) c.82-19A= (n.82-19A=) | |
1 | g.45508193A>C | CA2473783336 | MMACHC | c.277-19A>C (n.277-19A>C) c.106-19A>C (n.106-19A>C) c.82-19A>C (n.82-19A>C) | dbSNP gnomAD v4 |
1 | g.45508194T>C | CA2645391248 | MMACHC | c.277-18T>C (n.277-18T>C) c.106-18T>C (n.106-18T>C) c.82-18T>C (n.82-18T>C) | gnomAD v4 |
1 | g.45508197dup | CA913187007 | MMACHC | c.277-15dup (n.277-15dup) c.106-15dup (n.106-15dup) c.82-15dup (n.82-15dup) | |
1 | g.45508195T= | CA2473783337 | MMACHC | c.277-17T= (n.277-17T=) c.106-17T= (n.106-17T=) c.82-17T= (n.82-17T=) | |
1 | g.45508195_45508196insA | CA2473783338 | MMACHC | c.277-17_277-16insA (n.277-17_277-16insA) c.106-17_106-16insA (n.106-17_106-16insA) c.82-17_82-16insA (n.82-17_82-16insA) | ClinVar dbSNP |
1 | g.45508197T>C | CA2574352251 | MMACHC | c.277-15T>C (n.277-15T>C) c.106-15T>C (n.106-15T>C) c.82-15T>C (n.82-15T>C) | |
1 | g.45508197T>G | CA2645391249 | MMACHC | c.277-15T>G (n.277-15T>G) c.106-15T>G (n.106-15T>G) c.82-15T>G (n.82-15T>G) | ClinVar gnomAD v4 |
1 | g.45508198G>A | CA827691 | MMACHC | c.277-14G>A (n.277-14G>A) c.106-14G>A (n.106-14G>A) c.82-14G>A (n.82-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508198G= | CA2473783339 | MMACHC | c.277-14G= (n.277-14G=) c.106-14G= (n.106-14G=) c.82-14G= (n.82-14G=) | |
1 | g.45508198G>T | CA736189837 | MMACHC | c.277-14G>T (n.277-14G>T) c.106-14G>T (n.106-14G>T) c.82-14G>T (n.82-14G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508199T>C | CA2739272542 | MMACHC | c.277-13T>C (n.277-13T>C) c.106-13T>C (n.106-13T>C) c.82-13T>C (n.82-13T>C) | ClinVar |
1 | g.45508201C>T | CA2645391250 | MMACHC | c.277-11C>T (n.277-11C>T) c.106-11C>T (n.106-11C>T) c.82-11C>T (n.82-11C>T) | gnomAD v4 |
1 | g.45508202A= | CA2473783340 | MMACHC | c.277-10A= (n.277-10A=) c.106-10A= (n.106-10A=) c.82-10A= (n.82-10A=) | |
1 | g.45508202A>C | CA2580062916 | MMACHC | c.277-10A>C (n.277-10A>C) c.106-10A>C (n.106-10A>C) c.82-10A>C (n.82-10A>C) | ClinVar |
1 | g.45508202dup | CA913075127 | MMACHC | c.277-10dup (n.277-10dup) c.106-10dup (n.106-10dup) c.82-10dup (n.82-10dup) | |
1 | g.45508202_45508204delinsACT | CA2473783341 | MMACHC | c.277-10_277-8delinsACT (n.277-10_277-8delinsACT) c.106-10_106-8delinsACT (n.106-10_106-8delinsACT) c.82-10_82-8delinsACT (n.82-10_82-8delinsACT) | |
1 | g.45508203C>T | CA2739272543 | MMACHC | c.277-9C>T (n.277-9C>T) c.106-9C>T (n.106-9C>T) c.82-9C>T (n.82-9C>T) | ClinVar |
1 | g.45508203_45508204del | CA522810649 | MMACHC | c.277-9_277-8del (n.277-9_277-8del) c.106-9_106-8del (n.106-9_106-8del) c.82-9_82-8del (n.82-9_82-8del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508204_45508209dup | CA827692 | MMACHC | c.277-8_277-3dup (n.277-8_277-3dup) c.106-8_106-3dup (n.106-8_106-3dup) c.82-8_82-3dup (n.82-8_82-3dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508204T>G | CA736189865 | MMACHC | c.277-8T>G (n.277-8T>G) c.106-8T>G (n.106-8T>G) c.82-8T>G (n.82-8T>G) | dbSNP |
1 | g.45508204T= | CA2473783342 | MMACHC | c.277-8T= (n.277-8T=) c.106-8T= (n.106-8T=) c.82-8T= (n.82-8T=) | |
1 | g.45508205G>A | CA522810650 | MMACHC | c.277-7G>A (n.277-7G>A) c.106-7G>A (n.106-7G>A) c.82-7G>A (n.82-7G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508205G= | CA2473783343 | MMACHC | c.277-7G= (n.277-7G=) c.106-7G= (n.106-7G=) c.82-7G= (n.82-7G=) | |
1 | g.45508206T>C | CA2580062917 | MMACHC | c.277-6T>C (n.277-6T>C) c.106-6T>C (n.106-6T>C) c.82-6T>C (n.82-6T>C) | ClinVar gnomAD v4 |
1 | g.45508207T>C | CA21829274 | MMACHC | c.277-5T>C (n.277-5T>C) c.106-5T>C (n.106-5T>C) c.82-5T>C (n.82-5T>C) | dbSNP gnomAD v4 |
1 | g.45508207T= | CA2473783344 | MMACHC | c.277-5T= (n.277-5T=) c.106-5T= (n.106-5T=) c.82-5T= (n.82-5T=) | |
1 | g.45508209_45508238del | CA2586966634 | MMACHC | c.277-3_303del c.106-3_132del c.82-3_108del | |
1 | g.45508208C>A | CA915941283 | MMACHC | c.277-4C>A (n.277-4C>A) c.106-4C>A (n.106-4C>A) c.82-4C>A (n.82-4C>A) | ClinVar dbSNP |
1 | g.45508208C= | CA1143380791 | MMACHC | c.277-4C= (n.277-4C=) c.106-4C= (n.106-4C=) c.82-4C= (n.82-4C=) | |
1 | g.45508208C>G | CA827693 | MMACHC | c.277-4C>G (n.277-4C>G) c.106-4C>G (n.106-4C>G) c.82-4C>G (n.82-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508208C>T | CA2645391251 | MMACHC | c.277-4C>T (n.277-4C>T) c.106-4C>T (n.106-4C>T) c.82-4C>T (n.82-4C>T) | ClinVar gnomAD v4 |
1 | g.45508209del | CA2574352252 | MMACHC | c.277-3del (n.277-3del) c.106-3del (n.106-3del) c.82-3del (n.82-3del) | gnomAD v4 |
1 | g.45508215_45508224del | CA21829276 | MMACHC | c.280_289del c.109_118del c.85_94del | |
1 | g.45508209C>G | CA2645391252 | MMACHC | c.277-3C>G (n.277-3C>G) c.106-3C>G (n.106-3C>G) c.82-3C>G (n.82-3C>G) | gnomAD v4 |
1 | g.45508210A= | CA1143518869 | MMACHC | c.277-2A= (n.277-2A=) c.106-2A= (n.106-2A=) c.82-2A= (n.82-2A=) | |
1 | g.45508210A>C | CA340132082 | MMACHC | c.277-2A>C (n.277-2A>C) c.106-2A>C (n.106-2A>C) c.82-2A>C (n.82-2A>C) | |
1 | g.45508210A>G | CA827694 | MMACHC | c.277-2A>G (n.277-2A>G) c.106-2A>G (n.106-2A>G) c.82-2A>G (n.82-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508210A>T | CA340132083 | MMACHC | c.277-2A>T (n.277-2A>T) c.106-2A>T (n.106-2A>T) c.82-2A>T (n.82-2A>T) | |
1 | g.45508211G>A | CA340132084 | MMACHC | c.277-1G>A (n.277-1G>A) c.106-1G>A (n.106-1G>A) c.82-1G>A (n.82-1G>A) | ClinVar gnomAD v4 |
1 | g.45508211G>C | CA340132085 | MMACHC | c.277-1G>C (n.277-1G>C) c.106-1G>C (n.106-1G>C) c.82-1G>C (n.82-1G>C) | |
1 | g.45508211G>T | CA340132086 | MMACHC | c.277-1G>T (n.277-1G>T) c.106-1G>T (n.106-1G>T) c.82-1G>T (n.82-1G>T) | |
1 | g.45508212A>C | CA340132087 | MMACHC | c.277A>C (p.Ser93Arg) c.106A>C (p.Ser36Arg) c.82A>C (p.Ser28Arg) | |
1 | g.45508212A>G | CA340132088 | MMACHC | c.277A>G (p.Ser93Gly) c.106A>G (p.Ser36Gly) c.82A>G (p.Ser28Gly) | gnomAD v4 |
1 | g.45508212A>T | CA340132089 | MMACHC | c.277A>T (p.Ser93Cys) c.106A>T (p.Ser36Cys) c.82A>T (p.Ser28Cys) | |
1 | g.45508213G>A | CA340132092 | MMACHC | c.278G>A (p.Ser93Asn) c.107G>A (p.Ser36Asn) c.83G>A (p.Ser28Asn) | |
1 | g.45508213G>C | CA340132090 | MMACHC | c.278G>C (p.Ser93Thr) c.107G>C (p.Ser36Thr) c.83G>C (p.Ser28Thr) | |
1 | g.45508213G>T | CA340132091 | MMACHC | c.278G>T (p.Ser93Ile) c.107G>T (p.Ser36Ile) c.83G>T (p.Ser28Ile) | |
1 | g.45508214C>A | CA340132093 | MMACHC | c.279C>A (p.Ser93Arg) c.108C>A (p.Ser36Arg) c.84C>A (p.Ser28Arg) | |
1 | g.45508214C>G | CA340132094 | MMACHC | c.279C>G (p.Ser93Arg) c.108C>G (p.Ser36Arg) c.84C>G (p.Ser28Arg) | |
1 | g.45508214C>T | CA417705475 | MMACHC | c.279C>T (p.Ser93=) c.108C>T (p.Ser36=) c.84C>T (p.Ser28=) | gnomAD v4 |
1 | g.45508215C>A | CA340132095 | MMACHC | c.280C>A (p.Leu94Ile) c.109C>A (p.Leu37Ile) c.85C>A (p.Leu29Ile) | |
1 | g.45508215C>G | CA340132096 | MMACHC | c.280C>G (p.Leu94Val) c.109C>G (p.Leu37Val) c.85C>G (p.Leu29Val) | |
1 | g.45508215C>T | CA340132097 | MMACHC | c.280C>T (p.Leu94Phe) c.109C>T (p.Leu37Phe) c.85C>T (p.Leu29Phe) | gnomAD v4 |
1 | g.45508216T>A | CA340132098 | MMACHC | c.281T>A (p.Leu94His) c.110T>A (p.Leu37His) c.86T>A (p.Leu29His) | |
1 | g.45508216T>C | CA340132099 | MMACHC | c.281T>C (p.Leu94Pro) c.110T>C (p.Leu37Pro) c.86T>C (p.Leu29Pro) | |
1 | g.45508216T>G | CA340132100 | MMACHC | c.281T>G (p.Leu94Arg) c.110T>G (p.Leu37Arg) c.86T>G (p.Leu29Arg) | |
1 | g.45508216_45508225del | CA2739272544 | MMACHC | c.281_290del (p.Leu94ArgfsTer3) c.110_119del (p.Leu37ArgfsTer3) c.86_95del (p.Leu29ArgfsTer3) | ClinVar |
1 | g.45508217C>A | CA417705476 | MMACHC | c.282C>A (p.Leu94=) c.111C>A (p.Leu37=) c.87C>A (p.Leu29=) | |
1 | g.45508217C= | CA2473783345 | MMACHC | c.282C= (p.Leu94=) c.111C= (p.Leu37=) c.87C= (p.Leu29=) | |
1 | g.45508217C>G | CA827695 | MMACHC | c.282C>G (p.Leu94=) c.111C>G (p.Leu37=) c.87C>G (p.Leu29=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508217C>T | CA417705477 | MMACHC | c.282C>T (p.Leu94=) c.111C>T (p.Leu37=) c.87C>T (p.Leu29=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508219dup | CA913075128 | MMACHC | c.284dup (p.Glu96ArgfsTer9) c.113dup (p.Glu39ArgfsTer9) c.89dup (p.Glu31ArgfsTer9) | |
1 | g.45508218C>A | CA340132101 | MMACHC | c.283C>A (p.Pro95Thr) c.112C>A (p.Pro38Thr) c.88C>A (p.Pro30Thr) | |
1 | g.45508218C= | CA2473783346 | MMACHC | c.283C= (p.Pro95=) c.112C= (p.Pro38=) c.88C= (p.Pro30=) | |
1 | g.45508218C>G | CA340132102 | MMACHC | c.283C>G (p.Pro95Ala) c.112C>G (p.Pro38Ala) c.88C>G (p.Pro30Ala) | |
1 | g.45508218C>T | CA340132103 | MMACHC | c.283C>T (p.Pro95Ser) c.112C>T (p.Pro38Ser) c.88C>T (p.Pro30Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508219C>A | CA340132106 | MMACHC | c.284C>A (p.Pro95Gln) c.113C>A (p.Pro38Gln) c.89C>A (p.Pro30Gln) | |
1 | g.45508219C= | CA2473783347 | MMACHC | c.284C= (p.Pro95=) c.113C= (p.Pro38=) c.89C= (p.Pro30=) | |
1 | g.45508219C>G | CA340132105 | MMACHC | c.284C>G (p.Pro95Arg) c.113C>G (p.Pro38Arg) c.89C>G (p.Pro30Arg) | gnomAD v4 |
1 | g.45508219C>T | CA340132104 | MMACHC | c.284C>T (p.Pro95Leu) c.113C>T (p.Pro38Leu) c.89C>T (p.Pro30Leu) | |
1 | g.45508220A>C | CA417705478 | MMACHC | c.285A>C (p.Pro95=) c.114A>C (p.Pro38=) c.90A>C (p.Pro30=) | |
1 | g.45508220A>G | CA417705480 | MMACHC | c.285A>G (p.Pro95=) c.114A>G (p.Pro38=) c.90A>G (p.Pro30=) | |
1 | g.45508220A>T | CA417705479 | MMACHC | c.285A>T (p.Pro95=) c.114A>T (p.Pro38=) c.90A>T (p.Pro30=) | |
1 | g.45508220dup | CA658821022 | MMACHC | c.285dup (p.Glu96ArgfsTer9) c.114dup (p.Glu39ArgfsTer9) c.90dup (p.Glu31ArgfsTer9) | ClinVar dbSNP |
1 | g.45508221G>A | CA340132107 | MMACHC | c.286G>A (p.Glu96Lys) c.115G>A (p.Glu39Lys) c.91G>A (p.Glu31Lys) | ClinVar gnomAD v4 |
1 | g.45508221G>C | CA340132109 | MMACHC | c.286G>C (p.Glu96Gln) c.115G>C (p.Glu39Gln) c.91G>C (p.Glu31Gln) | |
1 | g.45508221G>T | CA340132108 | MMACHC | c.286G>T (p.Glu96Ter) c.115G>T (p.Glu39Ter) c.91G>T (p.Glu31Ter) | |
1 | g.45508222A>C | CA340132110 | MMACHC | c.287A>C (p.Glu96Ala) c.116A>C (p.Glu39Ala) c.92A>C (p.Glu31Ala) | |
1 | g.45508222A>G | CA340132112 | MMACHC | c.287A>G (p.Glu96Gly) c.116A>G (p.Glu39Gly) c.92A>G (p.Glu31Gly) | gnomAD v4 |
1 | g.45508222A>T | CA340132111 | MMACHC | c.287A>T (p.Glu96Val) c.116A>T (p.Glu39Val) c.92A>T (p.Glu31Val) | |
1 | g.45508223G>A | CA417705481 | MMACHC | c.288G>A (p.Glu96=) c.117G>A (p.Glu39=) c.93G>A (p.Glu31=) | ClinVar dbSNP |
1 | g.45508223G>C | CA340132113 | MMACHC | c.288G>C (p.Glu96Asp) c.117G>C (p.Glu39Asp) c.93G>C (p.Glu31Asp) | |
1 | g.45508223G= | CA2473783348 | MMACHC | c.288G= (p.Glu96=) c.117G= (p.Glu39=) c.93G= (p.Glu31=) | |
1 | g.45508223G>T | CA340132114 | MMACHC | c.288G>T (p.Glu96Asp) c.117G>T (p.Glu39Asp) c.93G>T (p.Glu31Asp) | |
1 | g.45508224C>A | CA340132115 | MMACHC | c.289C>A (p.Leu97Met) c.118C>A (p.Leu40Met) c.94C>A (p.Leu32Met) | |
1 | g.45508224C>G | CA340132116 | MMACHC | c.289C>G (p.Leu97Val) c.118C>G (p.Leu40Val) c.94C>G (p.Leu32Val) | |
1 | g.45508224C>T | CA417705482 | MMACHC | c.289C>T (p.Leu97=) c.118C>T (p.Leu40=) c.94C>T (p.Leu32=) | gnomAD v4 |
1 | g.45508225T>A | CA340132117 | MMACHC | c.290T>A (p.Leu97Gln) c.119T>A (p.Leu40Gln) c.95T>A (p.Leu32Gln) | |
1 | g.45508225T>C | CA340132118 | MMACHC | c.290T>C (p.Leu97Pro) c.119T>C (p.Leu40Pro) c.95T>C (p.Leu32Pro) | |
1 | g.45508225T>G | CA340132119 | MMACHC | c.290T>G (p.Leu97Arg) c.119T>G (p.Leu40Arg) c.95T>G (p.Leu32Arg) | |
1 | g.45508226G>A | CA21829286 | MMACHC | c.291G>A (p.Leu97=) c.120G>A (p.Leu40=) c.96G>A (p.Leu32=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508226G>C | CA417705483 | MMACHC | c.291G>C (p.Leu97=) c.120G>C (p.Leu40=) c.96G>C (p.Leu32=) | |
1 | g.45508226G= | CA1147214759 | MMACHC | c.291G= (p.Leu97=) c.120G= (p.Leu40=) c.96G= (p.Leu32=) | |
1 | g.45508226G>T | CA417705484 | MMACHC | c.291G>T (p.Leu97=) c.120G>T (p.Leu40=) c.96G>T (p.Leu32=) | |
1 | g.45508227C>A | CA340132120 | MMACHC | c.292C>A (p.Gln98Lys) c.121C>A (p.Gln41Lys) c.97C>A (p.Gln33Lys) | |
1 | g.45508227C= | CA2473783349 | MMACHC | c.292C= (p.Gln98=) c.121C= (p.Gln41=) c.97C= (p.Gln33=) | |
1 | g.45508227C>G | CA340132121 | MMACHC | c.292C>G (p.Gln98Glu) c.121C>G (p.Gln41Glu) c.97C>G (p.Gln33Glu) | |
1 | g.45508227C>T | CA827696 | MMACHC | c.292C>T (p.Gln98Ter) c.121C>T (p.Gln41Ter) c.97C>T (p.Gln33Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508228A>C | CA340132122 | MMACHC | c.293A>C (p.Gln98Pro) c.122A>C (p.Gln41Pro) c.98A>C (p.Gln33Pro) | |
1 | g.45508228A>G | CA340132124 | MMACHC | c.293A>G (p.Gln98Arg) c.122A>G (p.Gln41Arg) c.98A>G (p.Gln33Arg) | |
1 | g.45508228A>T | CA340132123 | MMACHC | c.293A>T (p.Gln98Leu) c.122A>T (p.Gln41Leu) c.98A>T (p.Gln33Leu) | |
1 | g.45508229G>A | CA417705485 | MMACHC | c.294G>A (p.Gln98=) c.123G>A (p.Gln41=) c.99G>A (p.Gln33=) | |
1 | g.45508229G>C | CA340132125 | MMACHC | c.294G>C (p.Gln98His) c.123G>C (p.Gln41His) c.99G>C (p.Gln33His) | |
1 | g.45508229G>T | CA340132126 | MMACHC | c.294G>T (p.Gln98His) c.123G>T (p.Gln41His) c.99G>T (p.Gln33His) | |
1 | g.45508230A>C | CA340132127 | MMACHC | c.295A>C (p.Ile99Leu) c.124A>C (p.Ile42Leu) c.100A>C (p.Ile34Leu) | |
1 | g.45508230A>G | CA340132128 | MMACHC | c.295A>G (p.Ile99Val) c.124A>G (p.Ile42Val) c.100A>G (p.Ile34Val) | |
1 | g.45508230A>T | CA340132129 | MMACHC | c.295A>T (p.Ile99Leu) c.124A>T (p.Ile42Leu) c.100A>T (p.Ile34Leu) | |
1 | g.45508231T>A | CA340132130 | MMACHC | c.296T>A (p.Ile99Lys) c.125T>A (p.Ile42Lys) c.101T>A (p.Ile34Lys) | gnomAD v4 |
1 | g.45508231T>C | CA827697 | MMACHC | c.296T>C (p.Ile99Thr) c.125T>C (p.Ile42Thr) c.101T>C (p.Ile34Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508231T>G | CA340132131 | MMACHC | c.296T>G (p.Ile99Arg) c.125T>G (p.Ile42Arg) c.101T>G (p.Ile34Arg) | |
1 | g.45508231T= | CA1143715737 | MMACHC | c.296T= (p.Ile99=) c.125T= (p.Ile42=) c.101T= (p.Ile34=) | |
1 | g.45508232A>C | CA417705486 | MMACHC | c.297A>C (p.Ile99=) c.126A>C (p.Ile42=) c.102A>C (p.Ile34=) | ClinVar |
1 | g.45508232A>G | CA340132132 | MMACHC | c.297A>G (p.Ile99Met) c.126A>G (p.Ile42Met) c.102A>G (p.Ile34Met) | gnomAD v4 |
1 | g.45508232A>T | CA417705487 | MMACHC | c.297A>T (p.Ile99=) c.126A>T (p.Ile42=) c.102A>T (p.Ile34=) | |
1 | g.45508233G>A | CA340132134 | MMACHC | c.298G>A (p.Glu100Lys) c.127G>A (p.Glu43Lys) c.103G>A (p.Glu35Lys) | |
1 | g.45508233G>C | CA340132135 | MMACHC | c.298G>C (p.Glu100Gln) c.127G>C (p.Glu43Gln) c.103G>C (p.Glu35Gln) | |
1 | g.45508233G>T | CA340132133 | MMACHC | c.298G>T (p.Glu100Ter) c.127G>T (p.Glu43Ter) c.103G>T (p.Glu35Ter) | |
1 | g.45508234A>C | CA340132136 | MMACHC | c.299A>C (p.Glu100Ala) c.128A>C (p.Glu43Ala) c.104A>C (p.Glu35Ala) | |
1 | g.45508234A>G | CA340132137 | MMACHC | c.299A>G (p.Glu100Gly) c.128A>G (p.Glu43Gly) c.104A>G (p.Glu35Gly) | |
1 | g.45508234A>T | CA340132138 | MMACHC | c.299A>T (p.Glu100Val) c.128A>T (p.Glu43Val) c.104A>T (p.Glu35Val) | |
1 | g.45508235A>C | CA340132139 | MMACHC | c.300A>C (p.Glu100Asp) c.129A>C (p.Glu43Asp) c.105A>C (p.Glu35Asp) | |
1 | g.45508235A>G | CA417705488 | MMACHC | c.300A>G (p.Glu100=) c.129A>G (p.Glu43=) c.105A>G (p.Glu35=) | |
1 | g.45508235A>T | CA340132140 | MMACHC | c.300A>T (p.Glu100Asp) c.129A>T (p.Glu43Asp) c.105A>T (p.Glu35Asp) | |
1 | g.45508236A>C | CA340132141 | MMACHC | c.301A>C (p.Ile101Leu) c.130A>C (p.Ile44Leu) c.106A>C (p.Ile36Leu) | |
1 | g.45508236A>G | CA340132142 | MMACHC | c.301A>G (p.Ile101Val) c.130A>G (p.Ile44Val) c.106A>G (p.Ile36Val) | COSMIC |
1 | g.45508236A>T | CA340132143 | MMACHC | c.301A>T (p.Ile101Phe) c.130A>T (p.Ile44Phe) c.106A>T (p.Ile36Phe) | |
1 | g.45508237T>A | CA340132144 | MMACHC | c.302T>A (p.Ile101Asn) c.131T>A (p.Ile44Asn) c.107T>A (p.Ile36Asn) | |
1 | g.45508237T>C | CA340132145 | MMACHC | c.302T>C (p.Ile101Thr) c.131T>C (p.Ile44Thr) c.107T>C (p.Ile36Thr) | |
1 | g.45508237T>G | CA340132146 | MMACHC | c.302T>G (p.Ile101Ser) c.131T>G (p.Ile44Ser) c.107T>G (p.Ile36Ser) | |
1 | g.45508238C>A | CA417705489 | MMACHC | c.303C>A (p.Ile101=) c.132C>A (p.Ile44=) c.108C>A (p.Ile36=) | gnomAD v4 |
1 | g.45508238C>G | CA340132147 | MMACHC | c.303C>G (p.Ile101Met) c.132C>G (p.Ile44Met) c.108C>G (p.Ile36Met) | |
1 | g.45508238C>T | CA417705490 | MMACHC | c.303C>T (p.Ile101=) c.132C>T (p.Ile44=) c.108C>T (p.Ile36=) | |
1 | g.45508239A= | CA2473783350 | MMACHC | c.304A= (p.Ile102=) c.133A= (p.Ile45=) c.109A= (p.Ile37=) | |
1 | g.45508239A>C | CA340132149 | MMACHC | c.304A>C (p.Ile102Leu) c.133A>C (p.Ile45Leu) c.109A>C (p.Ile37Leu) | |
1 | g.45508239A>G | CA827698 | MMACHC | c.304A>G (p.Ile102Val) c.133A>G (p.Ile45Val) c.109A>G (p.Ile37Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508239A>T | CA340132148 | MMACHC | c.304A>T (p.Ile102Phe) c.133A>T (p.Ile45Phe) c.109A>T (p.Ile37Phe) | |
1 | g.45508240T>A | CA340132150 | MMACHC | c.305T>A (p.Ile102Asn) c.134T>A (p.Ile45Asn) c.110T>A (p.Ile37Asn) | |
1 | g.45508240T>C | CA340132151 | MMACHC | c.305T>C (p.Ile102Thr) c.134T>C (p.Ile45Thr) c.110T>C (p.Ile37Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508240T>G | CA340132152 | MMACHC | c.305T>G (p.Ile102Ser) c.134T>G (p.Ile45Ser) c.110T>G (p.Ile37Ser) | |
1 | g.45508240T= | CA2473783351 | MMACHC | c.305T= (p.Ile102=) c.134T= (p.Ile45=) c.110T= (p.Ile37=) | |
1 | g.45508241T>A | CA417705491 | MMACHC | c.306T>A (p.Ile102=) c.135T>A (p.Ile45=) c.111T>A (p.Ile37=) | |
1 | g.45508241T>C | CA417705492 | MMACHC | c.306T>C (p.Ile102=) c.135T>C (p.Ile45=) c.111T>C (p.Ile37=) | |
1 | g.45508241T>G | CA340132153 | MMACHC | c.306T>G (p.Ile102Met) c.135T>G (p.Ile45Met) c.111T>G (p.Ile37Met) | |
1 | g.45508242G>A | CA340132154 | MMACHC | c.307G>A (p.Ala103Thr) c.136G>A (p.Ala46Thr) c.112G>A (p.Ala38Thr) | |
1 | g.45508242G>C | CA340132155 | MMACHC | c.307G>C (p.Ala103Pro) c.136G>C (p.Ala46Pro) c.112G>C (p.Ala38Pro) | |
1 | g.45508242G>T | CA340132156 | MMACHC | c.307G>T (p.Ala103Ser) c.136G>T (p.Ala46Ser) c.112G>T (p.Ala38Ser) | |
1 | g.45508242_45508246del | CA913075129 | MMACHC | c.307_311del (p.Ala103LeufsTer?) c.136_140del (p.Ala46LeufsTer?) c.112_116del (p.Ala38LeufsTer?) | |
1 | g.45508242_45508246delinsGCTGA | CA2473783352 | MMACHC | c.307_311delinsGCTGA (p.Ala103=) c.136_140delinsGCTGA (p.Ala46=) c.112_116delinsGCTGA (p.Ala38=) | |
1 | g.45508243C>A | CA340132157 | MMACHC | c.308C>A (p.Ala103Asp) c.137C>A (p.Ala46Asp) c.113C>A (p.Ala38Asp) | |
1 | g.45508243C>G | CA340132158 | MMACHC | c.308C>G (p.Ala103Gly) c.137C>G (p.Ala46Gly) c.113C>G (p.Ala38Gly) | |
1 | g.45508243C>T | CA340132159 | MMACHC | c.308C>T (p.Ala103Val) c.137C>T (p.Ala46Val) c.113C>T (p.Ala38Val) | |
1 | g.45508245_45508248del | CA658821023 | MMACHC | c.310_313del (p.Asp104ThrfsTer19) c.139_142del (p.Asp47ThrfsTer19) c.115_118del (p.Asp39ThrfsTer19) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508244T>A | CA417705493 | MMACHC | c.309T>A (p.Ala103=) c.138T>A (p.Ala46=) c.114T>A (p.Ala38=) | |
1 | g.45508244T>C | CA417705494 | MMACHC | c.309T>C (p.Ala103=) c.138T>C (p.Ala46=) c.114T>C (p.Ala38=) | |
1 | g.45508244T>G | CA417705495 | MMACHC | c.309T>G (p.Ala103=) c.138T>G (p.Ala46=) c.114T>G (p.Ala38=) | |
1 | g.45508245G>A | CA827699 | MMACHC | c.310G>A (p.Asp104Asn) c.139G>A (p.Asp47Asn) c.115G>A (p.Asp39Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508245G>C | CA340132160 | MMACHC | c.310G>C (p.Asp104His) c.139G>C (p.Asp47His) c.115G>C (p.Asp39His) | |
1 | g.45508245G= | CA2473783353 | MMACHC | c.310G= (p.Asp104=) c.139G= (p.Asp47=) c.115G= (p.Asp39=) | |
1 | g.45508245G>T | CA340132161 | MMACHC | c.310G>T (p.Asp104Tyr) c.139G>T (p.Asp47Tyr) c.115G>T (p.Asp39Tyr) | |
1 | g.45508245_45508248delinsGACT | CA2473783354 | MMACHC | c.310_313delinsGACT (p.Asp104=) c.139_142delinsGACT (p.Asp47=) c.115_118delinsGACT (p.Asp39=) | |
1 | g.45508246A= | CA2473783355 | MMACHC | c.311A= (p.Asp104=) c.140A= (p.Asp47=) c.116A= (p.Asp39=) | |
1 | g.45508246A>C | CA340132163 | MMACHC | c.311A>C (p.Asp104Ala) c.140A>C (p.Asp47Ala) c.116A>C (p.Asp39Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508246A>G | CA340132164 | MMACHC | c.311A>G (p.Asp104Gly) c.140A>G (p.Asp47Gly) c.116A>G (p.Asp39Gly) | |
1 | g.45508246A>T | CA340132162 | MMACHC | c.311A>T (p.Asp104Val) c.140A>T (p.Asp47Val) c.116A>T (p.Asp39Val) | ClinVar dbSNP gnomAD v4 |
1 | g.45508248_45508250del | CA522810651 | MMACHC | c.313_315del (p.Tyr105del) c.142_144del (p.Tyr48del) c.118_120del (p.Tyr40del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508247C>A | CA340132166 | MMACHC | c.312C>A (p.Asp104Glu) c.141C>A (p.Asp47Glu) c.117C>A (p.Asp39Glu) | |
1 | g.45508247C>G | CA340132165 | MMACHC | c.312C>G (p.Asp104Glu) c.141C>G (p.Asp47Glu) c.117C>G (p.Asp39Glu) | |
1 | g.45508247C>T | CA417705496 | MMACHC | c.312C>T (p.Asp104=) c.141C>T (p.Asp47=) c.117C>T (p.Asp39=) | ClinVar gnomAD v4 |
1 | g.45508248T>A | CA340132167 | MMACHC | c.313T>A (p.Tyr105Asn) c.142T>A (p.Tyr48Asn) c.118T>A (p.Tyr40Asn) | |
1 | g.45508248T>C | CA340132168 | MMACHC | c.313T>C (p.Tyr105His) c.142T>C (p.Tyr48His) c.118T>C (p.Tyr40His) | |
1 | g.45508248T>G | CA340132169 | MMACHC | c.313T>G (p.Tyr105Asp) c.142T>G (p.Tyr48Asp) c.118T>G (p.Tyr40Asp) | |
1 | g.45508249A>C | CA340132170 | MMACHC | c.314A>C (p.Tyr105Ser) c.143A>C (p.Tyr48Ser) c.119A>C (p.Tyr40Ser) | |
1 | g.45508249A>G | CA340132171 | MMACHC | c.314A>G (p.Tyr105Cys) c.143A>G (p.Tyr48Cys) c.119A>G (p.Tyr40Cys) | |
1 | g.45508249A>T | CA340132172 | MMACHC | c.314A>T (p.Tyr105Phe) c.143A>T (p.Tyr48Phe) c.119A>T (p.Tyr40Phe) | |
1 | g.45508250C>A | CA340132173 | MMACHC | c.315C>A (p.Tyr105Ter) c.144C>A (p.Tyr48Ter) c.120C>A (p.Tyr40Ter) | ClinVar dbSNP |
1 | g.45508250C= | CA1144347614 | MMACHC | c.315C= (p.Tyr105=) c.144C= (p.Tyr48=) c.120C= (p.Tyr40=) | |
1 | g.45508250C>G | CA340132174 | MMACHC | c.315C>G (p.Tyr105Ter) c.144C>G (p.Tyr48Ter) c.120C>G (p.Tyr40Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508250C>T | CA827700 | MMACHC | c.315C>T (p.Tyr105=) c.144C>T (p.Tyr48=) c.120C>T (p.Tyr40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508251G>A | CA312730 | MMACHC | c.316G>A (p.Glu106Lys) c.145G>A (p.Glu49Lys) c.121G>A (p.Glu41Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508251G>C | CA340132175 | MMACHC | c.316G>C (p.Glu106Gln) c.145G>C (p.Glu49Gln) c.121G>C (p.Glu41Gln) | |
1 | g.45508251G= | CA1143494261 | MMACHC | c.316G= (p.Glu106=) c.145G= (p.Glu49=) c.121G= (p.Glu41=) | |
1 | g.45508251G>T | CA340132176 | MMACHC | c.316G>T (p.Glu106Ter) c.145G>T (p.Glu49Ter) c.121G>T (p.Glu41Ter) |