Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149570074A>C | CA348869108 | MMADHC | c.791T>G (p.Val264Gly) c.893T>G (p.Val298Gly) | |
2 | g.149570074A>G | CA348869110 | MMADHC | c.791T>C (p.Val264Ala) c.893T>C (p.Val298Ala) | |
2 | g.149570074A>T | CA348869111 | MMADHC | c.791T>A (p.Val264Glu) c.893T>A (p.Val298Glu) | |
2 | g.149570075C>A | CA348869119 | MMADHC | c.790G>T (p.Val264Leu) c.892G>T (p.Val298Leu) | dbSNP |
2 | g.149570075C= | CA1297264304 | MMADHC | c.790G= (p.Val264=) c.892G= (p.Val298=) | |
2 | g.149570075C>G | CA348869115 | MMADHC | c.790G>C (p.Val264Leu) c.892G>C (p.Val298Leu) | |
2 | g.149570075C>T | CA348869117 | MMADHC | c.790G>A (p.Val264Met) c.892G>A (p.Val298Met) | |
2 | g.149570076T>A | CA348869122 | MMADHC | c.789A>T (p.Lys263Asn) c.891A>T (p.Lys297Asn) | |
2 | g.149570076T>C | CA429405913 | MMADHC | c.789A>G (p.Lys263=) c.891A>G (p.Lys297=) | |
2 | g.149570076T>G | CA348869124 | MMADHC | c.789A>C (p.Lys263Asn) c.891A>C (p.Lys297Asn) | |
2 | g.149570077T>A | CA348869127 | MMADHC | c.788A>T (p.Lys263Ile) c.890A>T (p.Lys297Ile) | |
2 | g.149570077T>C | CA348869129 | MMADHC | c.788A>G (p.Lys263Arg) c.890A>G (p.Lys297Arg) | |
2 | g.149570077T>G | CA348869131 | MMADHC | c.788A>C (p.Lys263Thr) c.890A>C (p.Lys297Thr) | |
2 | g.149570078T>A | CA348869134 | MMADHC | c.787A>T (p.Lys263Ter) c.889A>T (p.Lys297Ter) | ClinVar |
2 | g.149570078T>C | CA1902261 | MMADHC | c.787A>G (p.Lys263Glu) c.889A>G (p.Lys297Glu) | dbSNP ExAC gnomAD v2 |
2 | g.149570078T>G | CA348869137 | MMADHC | c.787A>C (p.Lys263Gln) c.889A>C (p.Lys297Gln) | |
2 | g.149570078T= | CA1297264305 | MMADHC | c.787A= (p.Lys263=) c.889A= (p.Lys297=) | |
2 | g.149570079A= | CA1297264306 | MMADHC | c.786T= (p.Cys262=) c.888T= (p.Cys296=) | |
2 | g.149570079A>C | CA348869139 | MMADHC | c.786T>G (p.Cys262Trp) c.888T>G (p.Cys296Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570079A>G | CA429405914 | MMADHC | c.786T>C (p.Cys262=) c.888T>C (p.Cys296=) | |
2 | g.149570079A>T | CA348869141 | MMADHC | c.786T>A (p.Cys262Ter) c.888T>A (p.Cys296Ter) | |
2 | g.149570080C>A | CA348869147 | MMADHC | c.785G>T (p.Cys262Phe) c.887G>T (p.Cys296Phe) | |
2 | g.149570080C= | CA1297264307 | MMADHC | c.785G= (p.Cys262=) c.887G= (p.Cys296=) | |
2 | g.149570080C>G | CA348869150 | MMADHC | c.785G>C (p.Cys262Ser) c.887G>C (p.Cys296Ser) | |
2 | g.149570080C>T | CA1902262 | MMADHC | c.785G>A (p.Cys262Tyr) c.887G>A (p.Cys296Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570081A>C | CA348869152 | MMADHC | c.784T>G (p.Cys262Gly) c.886T>G (p.Cys296Gly) | |
2 | g.149570081A>G | CA348869155 | MMADHC | c.784T>C (p.Cys262Arg) c.886T>C (p.Cys296Arg) | |
2 | g.149570081A>T | CA348869157 | MMADHC | c.784T>A (p.Cys262Ser) c.886T>A (p.Cys296Ser) | |
2 | g.149570082G>A | CA429405915 | MMADHC | c.783C>T (p.Cys261=) c.885C>T (p.Cys295=) | |
2 | g.149570082G>C | CA348869160 | MMADHC | c.783C>G (p.Cys261Trp) c.885C>G (p.Cys295Trp) | |
2 | g.149570082G>T | CA348869161 | MMADHC | c.783C>A (p.Cys261Ter) c.885C>A (p.Cys295Ter) | |
2 | g.149570083C>A | CA348869165 | MMADHC | c.782G>T (p.Cys261Phe) c.884G>T (p.Cys295Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570083C= | CA1297264308 | MMADHC | c.782G= (p.Cys261=) c.884G= (p.Cys295=) | |
2 | g.149570083C>G | CA348869166 | MMADHC | c.782G>C (p.Cys261Ser) c.884G>C (p.Cys295Ser) | |
2 | g.149570083C>T | CA348869168 | MMADHC | c.782G>A (p.Cys261Tyr) c.884G>A (p.Cys295Tyr) | |
2 | g.149570084A= | CA1297264309 | MMADHC | c.781T= (p.Cys261=) c.883T= (p.Cys295=) | |
2 | g.149570084A>C | CA348869170 | MMADHC | c.781T>G (p.Cys261Gly) c.883T>G (p.Cys295Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570084A>G | CA348869171 | MMADHC | c.781T>C (p.Cys261Arg) c.883T>C (p.Cys295Arg) | |
2 | g.149570084A>T | CA348869173 | MMADHC | c.781T>A (p.Cys261Ser) c.883T>A (p.Cys295Ser) | |
2 | g.149570085T>A | CA429405916 | MMADHC | c.780A>T (p.Gly260=) c.882A>T (p.Gly294=) | dbSNP |
2 | g.149570085T>C | CA429405917 | MMADHC | c.780A>G (p.Gly260=) c.882A>G (p.Gly294=) | |
2 | g.149570085T>G | CA429405918 | MMADHC | c.780A>C (p.Gly260=) c.882A>C (p.Gly294=) | |
2 | g.149570085T= | CA1297264310 | MMADHC | c.780A= (p.Gly260=) c.882A= (p.Gly294=) | |
2 | g.149570086C>A | CA348869178 | MMADHC | c.779G>T (p.Gly260Val) c.881G>T (p.Gly294Val) | |
2 | g.149570086C>G | CA348869180 | MMADHC | c.779G>C (p.Gly260Ala) c.881G>C (p.Gly294Ala) | |
2 | g.149570086C>T | CA348869175 | MMADHC | c.779G>A (p.Gly260Glu) c.881G>A (p.Gly294Glu) | |
2 | g.149570087C>A | CA348869182 | MMADHC | c.778G>T (p.Gly260Ter) c.880G>T (p.Gly294Ter) | |
2 | g.149570087C>G | CA348869184 | MMADHC | c.778G>C (p.Gly260Arg) c.880G>C (p.Gly294Arg) | COSMIC |
2 | g.149570087C>T | CA348869186 | MMADHC | c.778G>A (p.Gly260Arg) c.880G>A (p.Gly294Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570088A>C | CA429405919 | MMADHC | c.777T>G (p.Leu259=) c.879T>G (p.Leu293=) | |
2 | g.149570088A>G | CA429405920 | MMADHC | c.777T>C (p.Leu259=) c.879T>C (p.Leu293=) | |
2 | g.149570088A>T | CA429405921 | MMADHC | c.777T>A (p.Leu259=) c.879T>A (p.Leu293=) | |
2 | g.149570089A= | CA1297264311 | MMADHC | c.776T= (p.Leu259=) c.878T= (p.Leu293=) | |
2 | g.149570089A>C | CA348869189 | MMADHC | c.776T>G (p.Leu259Arg) c.878T>G (p.Leu293Arg) | |
2 | g.149570089A>G | CA114486 | MMADHC | c.776T>C (p.Leu259Pro) c.878T>C (p.Leu293Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570089A>T | CA348869193 | MMADHC | c.776T>A (p.Leu259His) c.878T>A (p.Leu293His) | |
2 | g.149570090G>A | CA1902263 | MMADHC | c.775C>T (p.Leu259Phe) c.877C>T (p.Leu293Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570090G>C | CA1902264 | MMADHC | c.775C>G (p.Leu259Val) c.877C>G (p.Leu293Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.149570090G= | CA1297264312 | MMADHC | c.775C= (p.Leu259=) c.877C= (p.Leu293=) | |
2 | g.149570090G>T | CA348869197 | MMADHC | c.775C>A (p.Leu259Ile) c.877C>A (p.Leu293Ile) | |
2 | g.149570091G>A | CA429405922 | MMADHC | c.774C>T (p.Asp258=) c.876C>T (p.Asp292=) | |
2 | g.149570091G>C | CA348869201 | MMADHC | c.774C>G (p.Asp258Glu) c.876C>G (p.Asp292Glu) | |
2 | g.149570091G= | CA1297264313 | MMADHC | c.774C= (p.Asp258=) c.876C= (p.Asp292=) | |
2 | g.149570091G>T | CA58332357 | MMADHC | c.774C>A (p.Asp258Glu) c.876C>A (p.Asp292Glu) | dbSNP |
2 | g.149570091_149570106del | CA2752638764 | MMADHC | c.759_774del (p.Phe254LeufsTer6) c.861_876del (p.Phe288LeufsTer6) | |
2 | g.149570092T>A | CA348869205 | MMADHC | c.773A>T (p.Asp258Val) c.875A>T (p.Asp292Val) | |
2 | g.149570092T>C | CA348869207 | MMADHC | c.773A>G (p.Asp258Gly) c.875A>G (p.Asp292Gly) | |
2 | g.149570092T>G | CA348869210 | MMADHC | c.773A>C (p.Asp258Ala) c.875A>C (p.Asp292Ala) | |
2 | g.149570093C>A | CA348869213 | MMADHC | c.772G>T (p.Asp258Tyr) c.874G>T (p.Asp292Tyr) | |
2 | g.149570093C>G | CA348869216 | MMADHC | c.772G>C (p.Asp258His) c.874G>C (p.Asp292His) | |
2 | g.149570093C>T | CA348869212 | MMADHC | c.772G>A (p.Asp258Asn) c.874G>A (p.Asp292Asn) | |
2 | g.149570094A>C | CA348869218 | MMADHC | c.771T>G (p.Asp257Glu) c.873T>G (p.Asp291Glu) | |
2 | g.149570094A>G | CA429405923 | MMADHC | c.771T>C (p.Asp257=) c.873T>C (p.Asp291=) | |
2 | g.149570094A>T | CA348869220 | MMADHC | c.771T>A (p.Asp257Glu) c.873T>A (p.Asp291Glu) | |
2 | g.149570095T>A | CA348869222 | MMADHC | c.770A>T (p.Asp257Val) c.872A>T (p.Asp291Val) | |
2 | g.149570095T>C | CA348869224 | MMADHC | c.770A>G (p.Asp257Gly) c.872A>G (p.Asp291Gly) | gnomAD v4 |
2 | g.149570095T>G | CA348869227 | MMADHC | c.770A>C (p.Asp257Ala) c.872A>C (p.Asp291Ala) | |
2 | g.149570096C>A | CA1902265 | MMADHC | c.769G>T (p.Asp257Tyr) c.871G>T (p.Asp291Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570096C= | CA1297264314 | MMADHC | c.769G= (p.Asp257=) c.871G= (p.Asp291=) | |
2 | g.149570096C>G | CA58332358 | MMADHC | c.769G>C (p.Asp257His) c.871G>C (p.Asp291His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570096C>T | CA348869229 | MMADHC | c.769G>A (p.Asp257Asn) c.871G>A (p.Asp291Asn) | |
2 | g.149570097A>C | CA429405924 | MMADHC | c.768T>G (p.Val256=) c.870T>G (p.Val290=) | |
2 | g.149570097A>G | CA429405925 | MMADHC | c.768T>C (p.Val256=) c.870T>C (p.Val290=) | |
2 | g.149570097A>T | CA429405926 | MMADHC | c.768T>A (p.Val256=) c.870T>A (p.Val290=) | |
2 | g.149570098A= | CA1297264315 | MMADHC | c.767T= (p.Val256=) c.869T= (p.Val290=) | |
2 | g.149570098A>C | CA348869233 | MMADHC | c.767T>G (p.Val256Gly) c.869T>G (p.Val290Gly) | |
2 | g.149570098A>G | CA348869235 | MMADHC | c.767T>C (p.Val256Ala) c.869T>C (p.Val290Ala) | dbSNP |
2 | g.149570098A>T | CA348869237 | MMADHC | c.767T>A (p.Val256Asp) c.869T>A (p.Val290Asp) | |
2 | g.149570099C>A | CA348869239 | MMADHC | c.766G>T (p.Val256Phe) c.868G>T (p.Val290Phe) | |
2 | g.149570099C= | CA1297264316 | MMADHC | c.766G= (p.Val256=) c.868G= (p.Val290=) | |
2 | g.149570099C>G | CA348869241 | MMADHC | c.766G>C (p.Val256Leu) c.868G>C (p.Val290Leu) | ClinVar gnomAD v4 |
2 | g.149570099C>T | CA1902266 | MMADHC | c.766G>A (p.Val256Ile) c.868G>A (p.Val290Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570100A= | CA1297264317 | MMADHC | c.765T= (p.Ser255=) c.867T= (p.Ser289=) | |
2 | g.149570100A>C | CA429405927 | MMADHC | c.765T>G (p.Ser255=) c.867T>G (p.Ser289=) | |
2 | g.149570100A>G | CA1902267 | MMADHC | c.765T>C (p.Ser255=) c.867T>C (p.Ser289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570100A>T | CA429405928 | MMADHC | c.765T>A (p.Ser255=) c.867T>A (p.Ser289=) | |
2 | g.149570103_149570104del | CA2580611694 | MMADHC | c.764_765del (p.Ser255CysfsTer2) c.866_867del (p.Ser289CysfsTer2) | ClinVar dbSNP |
2 | g.149570101G>A | CA348869246 | MMADHC | c.764C>T (p.Ser255Phe) c.866C>T (p.Ser289Phe) | |
2 | g.149570101G>C | CA1902268 | MMADHC | c.764C>G (p.Ser255Cys) c.866C>G (p.Ser289Cys) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.149570101G= | CA1297264318 | MMADHC | c.764C= (p.Ser255=) c.866C= (p.Ser289=) | |
2 | g.149570101G>T | CA348869248 | MMADHC | c.764C>A (p.Ser255Tyr) c.866C>A (p.Ser289Tyr) | |
2 | g.149570102A>C | CA348869251 | MMADHC | c.763T>G (p.Ser255Ala) c.865T>G (p.Ser289Ala) | |
2 | g.149570102A>G | CA348869252 | MMADHC | c.763T>C (p.Ser255Pro) c.865T>C (p.Ser289Pro) | |
2 | g.149570102A>T | CA348869255 | MMADHC | c.763T>A (p.Ser255Thr) c.865T>A (p.Ser289Thr) | |
2 | g.149570103G>A | CA429405929 | MMADHC | c.762C>T (p.Phe254=) c.864C>T (p.Phe288=) | |
2 | g.149570103G>C | CA348869257 | MMADHC | c.762C>G (p.Phe254Leu) c.864C>G (p.Phe288Leu) | gnomAD v4 |
2 | g.149570103G= | CA1297264319 | MMADHC | c.762C= (p.Phe254=) c.864C= (p.Phe288=) | |
2 | g.149570103G>T | CA1902269 | MMADHC | c.762C>A (p.Phe254Leu) c.864C>A (p.Phe288Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570104A= | CA1297264320 | MMADHC | c.761T= (p.Phe254=) c.863T= (p.Phe288=) | |
2 | g.149570104A>C | CA348869261 | MMADHC | c.761T>G (p.Phe254Cys) c.863T>G (p.Phe288Cys) | dbSNP gnomAD v4 |
2 | g.149570104A>G | CA348869263 | MMADHC | c.761T>C (p.Phe254Ser) c.863T>C (p.Phe288Ser) | |
2 | g.149570104A>T | CA348869266 | MMADHC | c.761T>A (p.Phe254Tyr) c.863T>A (p.Phe288Tyr) | gnomAD v4 |
2 | g.149570105A>C | CA348869268 | MMADHC | c.760T>G (p.Phe254Val) c.862T>G (p.Phe288Val) | |
2 | g.149570105A>G | CA348869270 | MMADHC | c.760T>C (p.Phe254Leu) c.862T>C (p.Phe288Leu) | |
2 | g.149570105A>T | CA348869273 | MMADHC | c.760T>A (p.Phe254Ile) c.862T>A (p.Phe288Ile) | |
2 | g.149570106T>A | CA10611311 | MMADHC | c.759A>T (p.Gly253=) c.861A>T (p.Gly287=) | ClinVar dbSNP gnomAD v2 |
2 | g.149570106T>C | CA429405930 | MMADHC | c.759A>G (p.Gly253=) c.861A>G (p.Gly287=) | COSMIC |
2 | g.149570106T>G | CA429405931 | MMADHC | c.759A>C (p.Gly253=) c.861A>C (p.Gly287=) | |
2 | g.149570106T= | CA1297264321 | MMADHC | c.759A= (p.Gly253=) c.861A= (p.Gly287=) | |
2 | g.149570107C>A | CA348869276 | MMADHC | c.758G>T (p.Gly253Val) c.860G>T (p.Gly287Val) | |
2 | g.149570107C>G | CA348869280 | MMADHC | c.758G>C (p.Gly253Ala) c.860G>C (p.Gly287Ala) | |
2 | g.149570107C>T | CA348869278 | MMADHC | c.758G>A (p.Gly253Glu) c.860G>A (p.Gly287Glu) | |
2 | g.149570108C>A | CA348869281 | MMADHC | c.757G>T (p.Gly253Ter) c.859G>T (p.Gly287Ter) | |
2 | g.149570108C= | CA1297264322 | MMADHC | c.757G= (p.Gly253=) c.859G= (p.Gly287=) | |
2 | g.149570108C>G | CA348869283 | MMADHC | c.757G>C (p.Gly253Arg) c.859G>C (p.Gly287Arg) | gnomAD v4 |
2 | g.149570108C>T | CA1902270 | MMADHC | c.757G>A (p.Gly253Arg) c.859G>A (p.Gly287Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570109T>A | CA348869286 | MMADHC | c.756A>T (p.Leu252Phe) c.858A>T (p.Leu286Phe) | |
2 | g.149570109T>C | CA429405933 | MMADHC | c.756A>G (p.Leu252=) c.858A>G (p.Leu286=) | |
2 | g.149570109T>G | CA1902271 | MMADHC | c.756A>C (p.Leu252Phe) c.858A>C (p.Leu286Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570109T= | CA1297264323 | MMADHC | c.756A= (p.Leu252=) c.858A= (p.Leu286=) | |
2 | g.149570110A= | CA1297264324 | MMADHC | c.755T= (p.Leu252=) c.857T= (p.Leu286=) | |
2 | g.149570110A>C | CA348869290 | MMADHC | c.755T>G (p.Leu252Ter) c.857T>G (p.Leu286Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570110A>G | CA348869291 | MMADHC | c.755T>C (p.Leu252Ser) c.857T>C (p.Leu286Ser) | |
2 | g.149570110A>T | CA348869294 | MMADHC | c.755T>A (p.Leu252Ter) c.857T>A (p.Leu286Ter) | |
2 | g.149570111A>C | CA348869296 | MMADHC | c.754T>G (p.Leu252Val) c.856T>G (p.Leu286Val) | |
2 | g.149570111A>G | CA429405934 | MMADHC | c.754T>C (p.Leu252=) c.856T>C (p.Leu286=) | |
2 | g.149570111A>T | CA348869298 | MMADHC | c.754T>A (p.Leu252Ile) c.856T>A (p.Leu286Ile) | |
2 | g.149570112A>C | CA348869300 | MMADHC | c.753T>G (p.His251Gln) c.855T>G (p.His285Gln) | |
2 | g.149570112A>G | CA429405935 | MMADHC | c.753T>C (p.His251=) c.855T>C (p.His285=) | gnomAD v4 |
2 | g.149570112A>T | CA348869302 | MMADHC | c.753T>A (p.His251Gln) c.855T>A (p.His285Gln) | |
2 | g.149570113T>A | CA348869308 | MMADHC | c.752A>T (p.His251Leu) c.854A>T (p.His285Leu) | |
2 | g.149570113T>C | CA348869307 | MMADHC | c.752A>G (p.His251Arg) c.854A>G (p.His285Arg) | gnomAD v4 |
2 | g.149570113T>G | CA348869304 | MMADHC | c.752A>C (p.His251Pro) c.854A>C (p.His285Pro) | |
2 | g.149570114G>A | CA348869310 | MMADHC | c.751C>T (p.His251Tyr) c.853C>T (p.His285Tyr) | COSMIC |
2 | g.149570114G>C | CA348869312 | MMADHC | c.751C>G (p.His251Asp) c.853C>G (p.His285Asp) | |
2 | g.149570114G>T | CA348869319 | MMADHC | c.751C>A (p.His251Asn) c.853C>A (p.His285Asn) | |
2 | g.149570115T>A | CA429405936 | MMADHC | c.750A>T (p.Arg250=) c.852A>T (p.Arg284=) | |
2 | g.149570115T>C | CA429405937 | MMADHC | c.750A>G (p.Arg250=) c.852A>G (p.Arg284=) | |
2 | g.149570115T>G | CA429405938 | MMADHC | c.750A>C (p.Arg250=) c.852A>C (p.Arg284=) | |
2 | g.149570116C>A | CA348869322 | MMADHC | c.749G>T (p.Arg250Leu) c.851G>T (p.Arg284Leu) | |
2 | g.149570116C= | CA1297264325 | MMADHC | c.749G= (p.Arg250=) c.851G= (p.Arg284=) | |
2 | g.149570116C>G | CA348869324 | MMADHC | c.749G>C (p.Arg250Pro) c.851G>C (p.Arg284Pro) | |
2 | g.149570116C>T | CA1902272 | MMADHC | c.749G>A (p.Arg250Gln) c.851G>A (p.Arg284Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570117G>A | CA251599 | MMADHC | c.748C>T (p.Arg250Ter) c.850C>T (p.Arg284Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.149570117G>C | CA348869329 | MMADHC | c.748C>G (p.Arg250Gly) c.850C>G (p.Arg284Gly) | |
2 | g.149570117G= | CA1297264326 | MMADHC | c.748C= (p.Arg250=) c.850C= (p.Arg284=) | |
2 | g.149570117G>T | CA429405939 | MMADHC | c.748C>A (p.Arg250=) c.850C>A (p.Arg284=) | |
2 | g.149570118G>A | CA429405940 | MMADHC | c.747C>T (p.Tyr249=) c.849C>T (p.Tyr283=) | |
2 | g.149570118G>C | CA348869331 | MMADHC | c.747C>G (p.Tyr249Ter) c.849C>G (p.Tyr283Ter) | |
2 | g.149570118G>T | CA348869333 | MMADHC | c.747C>A (p.Tyr249Ter) c.849C>A (p.Tyr283Ter) | |
2 | g.149570119T>A | CA348869336 | MMADHC | c.746A>T (p.Tyr249Phe) c.848A>T (p.Tyr283Phe) | gnomAD v4 |
2 | g.149570119T>C | CA114488 | MMADHC | c.746A>G (p.Tyr249Cys) c.848A>G (p.Tyr283Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570119T>G | CA348869340 | MMADHC | c.746A>C (p.Tyr249Ser) c.848A>C (p.Tyr283Ser) | |
2 | g.149570119T= | CA1297264327 | MMADHC | c.746A= (p.Tyr249=) c.848A= (p.Tyr283=) | |
2 | g.149570120A= | CA1297264328 | MMADHC | c.745T= (p.Tyr249=) c.847T= (p.Tyr283=) | |
2 | g.149570120A>C | CA58332359 | MMADHC | c.745T>G (p.Tyr249Asp) c.847T>G (p.Tyr283Asp) | dbSNP gnomAD v4 |
2 | g.149570120A>G | CA1902273 | MMADHC | c.745T>C (p.Tyr249His) c.847T>C (p.Tyr283His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570120A>T | CA348869342 | MMADHC | c.745T>A (p.Tyr249Asn) c.847T>A (p.Tyr283Asn) | |
2 | g.149570121G>A | CA429405941 | MMADHC | c.744C>T (p.Arg248=) c.846C>T (p.Arg282=) | |
2 | g.149570121G>C | CA429405942 | MMADHC | c.744C>G (p.Arg248=) c.846C>G (p.Arg282=) | |
2 | g.149570121G>T | CA429405943 | MMADHC | c.744C>A (p.Arg248=) c.846C>A (p.Arg282=) | |
2 | g.149570122C>A | CA348869348 | MMADHC | c.743G>T (p.Arg248Leu) c.845G>T (p.Arg282Leu) | |
2 | g.149570122C= | CA1297264329 | MMADHC | c.743G= (p.Arg248=) c.845G= (p.Arg282=) | |
2 | g.149570122C>G | CA348869346 | MMADHC | c.743G>C (p.Arg248Pro) c.845G>C (p.Arg282Pro) | |
2 | g.149570122C>T | CA1902274 | MMADHC | c.743G>A (p.Arg248His) c.845G>A (p.Arg282His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570123G>A | CA1902275 | MMADHC | c.742C>T (p.Arg248Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570123G>C | CA348869355 | MMADHC | c.742C>G (p.Arg248Gly) c.844C>G (p.Arg282Gly) | |
2 | g.149570123G= | CA1297264330 | MMADHC | c.742C= (p.Arg248=) c.844C= (p.Arg282=) | |
2 | g.149570123G>T | CA348869352 | MMADHC | c.742C>A (p.Arg248Ser) c.844C>A (p.Arg282Ser) | |
2 | g.149570124T>A | CA348869357 | MMADHC | c.741A>T (p.Glu247Asp) c.843A>T (p.Glu281Asp) | |
2 | g.149570124T>C | CA1902276 | MMADHC | c.741A>G (p.Glu247=) c.843A>G (p.Glu281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570124T>G | CA348869360 | MMADHC | c.741A>C (p.Glu247Asp) c.843A>C (p.Glu281Asp) | |
2 | g.149570124T= | CA1297264331 | MMADHC | c.741A= (p.Glu247=) c.843A= (p.Glu281=) | |
2 | g.149570125T>A | CA348869364 | MMADHC | c.740A>T (p.Glu247Val) c.842A>T (p.Glu281Val) | |
2 | g.149570125T>C | CA348869366 | MMADHC | c.740A>G (p.Glu247Gly) c.842A>G (p.Glu281Gly) | |
2 | g.149570125T>G | CA348869368 | MMADHC | c.740A>C (p.Glu247Ala) c.842A>C (p.Glu281Ala) | |
2 | g.149570126C>A | CA348869370 | MMADHC | c.739G>T (p.Glu247Ter) c.841G>T (p.Glu281Ter) | ClinVar |
2 | g.149570126C>G | CA348869372 | MMADHC | c.739G>C (p.Glu247Gln) c.841G>C (p.Glu281Gln) | |
2 | g.149570126C>T | CA348869374 | MMADHC | c.739G>A (p.Glu247Lys) c.841G>A (p.Glu281Lys) | gnomAD v4 |
2 | g.149570127A>C | CA348869378 | MMADHC | c.738T>G (p.Asp246Glu) c.840T>G (p.Asp280Glu) | |
2 | g.149570127A>G | CA429405944 | MMADHC | c.738T>C (p.Asp246=) c.840T>C (p.Asp280=) | |
2 | g.149570127A>T | CA348869380 | MMADHC | c.738T>A (p.Asp246Glu) c.840T>A (p.Asp280Glu) | |
2 | g.149570128T>A | CA348869382 | MMADHC | c.737A>T (p.Asp246Val) c.839A>T (p.Asp280Val) | dbSNP |
2 | g.149570128T>C | CA348869383 | MMADHC | c.737A>G (p.Asp246Gly) c.839A>G (p.Asp280Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570128T>G | CA348869384 | MMADHC | c.737A>C (p.Asp246Ala) c.839A>C (p.Asp280Ala) | |
2 | g.149570128T= | CA1297264332 | MMADHC | c.737A= (p.Asp246=) c.839A= (p.Asp280=) | |
2 | g.149570129C>A | CA348869385 | MMADHC | c.736G>T (p.Asp246Tyr) c.838G>T (p.Asp280Tyr) | |
2 | g.149570129C= | CA1297264333 | MMADHC | c.736G= (p.Asp246=) c.838G= (p.Asp280=) | |
2 | g.149570129C>G | CA348869386 | MMADHC | c.736G>C (p.Asp246His) c.838G>C (p.Asp280His) | |
2 | g.149570129C>T | CA1902277 | MMADHC | c.736G>A (p.Asp246Asn) c.838G>A (p.Asp280Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570130A= | CA1297264334 | MMADHC | c.735T= (p.Thr245=) c.837T= (p.Thr279=) | |
2 | g.149570130A>C | CA1902278 | MMADHC | c.735T>G (p.Thr245=) c.837T>G (p.Thr279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570130A>G | CA429405946 | MMADHC | c.735T>C (p.Thr245=) c.837T>C (p.Thr279=) | |
2 | g.149570130A>T | CA429405945 | MMADHC | c.735T>A (p.Thr245=) c.837T>A (p.Thr279=) | |
2 | g.149570131G>A | CA348869387 | MMADHC | c.734C>T (p.Thr245Ile) c.836C>T (p.Thr279Ile) | |
2 | g.149570131G>C | CA348869388 | MMADHC | c.734C>G (p.Thr245Ser) c.836C>G (p.Thr279Ser) | gnomAD v4 |
2 | g.149570131G>T | CA348869389 | MMADHC | c.734C>A (p.Thr245Asn) c.836C>A (p.Thr279Asn) | |
2 | g.149570132T>A | CA348869390 | MMADHC | c.733A>T (p.Thr245Ser) c.835A>T (p.Thr279Ser) | |
2 | g.149570132T>C | CA348869391 | MMADHC | c.733A>G (p.Thr245Ala) c.835A>G (p.Thr279Ala) | |
2 | g.149570132T>G | CA348869392 | MMADHC | c.733A>C (p.Thr245Pro) c.835A>C (p.Thr279Pro) | |
2 | g.149570133T>A | CA348869393 | MMADHC | c.732A>T (p.Glu244Asp) c.834A>T (p.Glu278Asp) | |
2 | g.149570133T>C | CA429405947 | MMADHC | c.732A>G (p.Glu244=) c.834A>G (p.Glu278=) | |
2 | g.149570133T>G | CA348869394 | MMADHC | c.732A>C (p.Glu244Asp) c.834A>C (p.Glu278Asp) | |
2 | g.149570134T>A | CA348869396 | MMADHC | c.731A>T (p.Glu244Val) c.833A>T (p.Glu278Val) | |
2 | g.149570134T>C | CA348869397 | MMADHC | c.731A>G (p.Glu244Gly) c.833A>G (p.Glu278Gly) | |
2 | g.149570134T>G | CA348869395 | MMADHC | c.731A>C (p.Glu244Ala) c.833A>C (p.Glu278Ala) | |
2 | g.149570135C>A | CA348869398 | MMADHC | c.730G>T (p.Glu244Ter) c.832G>T (p.Glu278Ter) | |
2 | g.149570135C= | CA1297264335 | MMADHC | c.730G= (p.Glu244=) c.832G= (p.Glu278=) | |
2 | g.149570135C>G | CA348869399 | MMADHC | c.730G>C (p.Glu244Gln) c.832G>C (p.Glu278Gln) | dbSNP |
2 | g.149570135C>T | CA348869400 | MMADHC | c.730G>A (p.Glu244Lys) c.832G>A (p.Glu278Lys) | |
2 | g.149570135_149570137delinsCAA | CA1297264336 | MMADHC | c.728_730delinsTTG (p.Phe243=) c.830_832delinsTTG (p.Phe277=) | |
2 | g.149570136A>C | CA348869401 | MMADHC | c.729T>G (p.Phe243Leu) c.831T>G (p.Phe277Leu) | |
2 | g.149570136A>G | CA429405948 | MMADHC | c.729T>C (p.Phe243=) c.831T>C (p.Phe277=) | |
2 | g.149570136A>T | CA348869402 | MMADHC | c.729T>A (p.Phe243Leu) c.831T>A (p.Phe277Leu) | |
2 | g.149570140del | CA2661422183 | MMADHC | c.729del (p.Phe243LeufsTer10) c.831del (p.Phe277LeufsTer10) | gnomAD v4 |
2 | g.149570139_149570140del | CA1297264337 | MMADHC | c.728_729del (p.Phe243Ter) c.830_831del (p.Phe277Ter) | ClinVar dbSNP |
2 | g.149570137A>C | CA348869403 | MMADHC | c.728T>G (p.Phe243Cys) c.830T>G (p.Phe277Cys) | |
2 | g.149570137A>G | CA348869404 | MMADHC | c.728T>C (p.Phe243Ser) c.830T>C (p.Phe277Ser) | |
2 | g.149570137A>T | CA348869405 | MMADHC | c.728T>A (p.Phe243Tyr) c.830T>A (p.Phe277Tyr) | |
2 | g.149570138A= | CA1297264338 | MMADHC | c.727T= (p.Phe243=) c.829T= (p.Phe277=) | |
2 | g.149570138A>C | CA348869406 | MMADHC | c.727T>G (p.Phe243Val) c.829T>G (p.Phe277Val) | |
2 | g.149570138A>G | CA348869407 | MMADHC | c.727T>C (p.Phe243Leu) c.829T>C (p.Phe277Leu) | dbSNP |
2 | g.149570138A>T | CA348869408 | MMADHC | c.727T>A (p.Phe243Ile) c.829T>A (p.Phe277Ile) | |
2 | g.149570139A>C | CA429405949 | MMADHC | c.726T>G (p.Leu242=) c.828T>G (p.Leu276=) | |
2 | g.149570139A>G | CA429405950 | MMADHC | c.726T>C (p.Leu242=) c.828T>C (p.Leu276=) | |
2 | g.149570139A>T | CA429405951 | MMADHC | c.726T>A (p.Leu242=) c.828T>A (p.Leu276=) | |
2 | g.149570140A>C | CA348869410 | MMADHC | c.725T>G (p.Leu242Arg) c.827T>G (p.Leu276Arg) | |
2 | g.149570140A>G | CA348869411 | MMADHC | c.725T>C (p.Leu242Pro) c.827T>C (p.Leu276Pro) | |
2 | g.149570140A>T | CA348869409 | MMADHC | c.725T>A (p.Leu242His) c.827T>A (p.Leu276His) | gnomAD v4 |
2 | g.149570141G>A | CA348869412 | MMADHC | c.724C>T (p.Leu242Phe) c.826C>T (p.Leu276Phe) | gnomAD v4 |
2 | g.149570141G>C | CA1902279 | MMADHC | c.724C>G (p.Leu242Val) c.826C>G (p.Leu276Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570141G= | CA1297264339 | MMADHC | c.724C= (p.Leu242=) c.826C= (p.Leu276=) | |
2 | g.149570141G>T | CA348869413 | MMADHC | c.724C>A (p.Leu242Ile) c.826C>A (p.Leu276Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570142A>C | CA429405952 | MMADHC | c.723T>G (p.Thr241=) c.825T>G (p.Thr275=) | ClinVar |
2 | g.149570142A>G | CA429405953 | MMADHC | c.723T>C (p.Thr241=) c.825T>C (p.Thr275=) | |
2 | g.149570142A>T | CA429405954 | MMADHC | c.723T>A (p.Thr241=) c.825T>A (p.Thr275=) | |
2 | g.149570143G>A | CA348869414 | MMADHC | c.722C>T (p.Thr241Ile) c.824C>T (p.Thr275Ile) | |
2 | g.149570143G>C | CA348869415 | MMADHC | c.722C>G (p.Thr241Ser) c.824C>G (p.Thr275Ser) | |
2 | g.149570143G>T | CA348869416 | MMADHC | c.722C>A (p.Thr241Asn) c.824C>A (p.Thr275Asn) | |
2 | g.149570144T>A | CA348869417 | MMADHC | c.721A>T (p.Thr241Ser) c.823A>T (p.Thr275Ser) | |
2 | g.149570144T>C | CA348869419 | MMADHC | c.721A>G (p.Thr241Ala) c.823A>G (p.Thr275Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570144T>G | CA348869418 | MMADHC | c.721A>C (p.Thr241Pro) c.823A>C (p.Thr275Pro) | |
2 | g.149570144T= | CA1297264340 | MMADHC | c.721A= (p.Thr241=) c.823A= (p.Thr275=) | |
2 | g.149570145G>A | CA429405955 | MMADHC | c.720C>T (p.Asn240=) c.822C>T (p.Asn274=) | |
2 | g.149570145G>C | CA348869420 | MMADHC | c.720C>G (p.Asn240Lys) c.822C>G (p.Asn274Lys) | |
2 | g.149570145G>T | CA348869421 | MMADHC | c.720C>A (p.Asn240Lys) c.822C>A (p.Asn274Lys) | |
2 | g.149570145_149570146delinsGT | CA1297264341 | MMADHC | c.719_720delinsAC (p.Asn240=) c.821_822delinsAC (p.Asn274=) | |
2 | g.149570146T>A | CA348869422 | MMADHC | c.719A>T (p.Asn240Ile) c.821A>T (p.Asn274Ile) | |
2 | g.149570146T>C | CA348869423 | MMADHC | c.719A>G (p.Asn240Ser) c.821A>G (p.Asn274Ser) | gnomAD v4 |
2 | g.149570146T>G | CA348869424 | MMADHC | c.719A>C (p.Asn240Thr) c.821A>C (p.Asn274Thr) | |
2 | g.149570147del | CA758703413 | MMADHC | c.719del (p.Asn240ThrfsTer13) c.821del (p.Asn274ThrfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570150_149570153dup | CA2661422184 | MMADHC | c.716_719dup (p.Asn240LysfsTer6) c.818_821dup (p.Asn274LysfsTer6) | gnomAD v4 |
2 | g.149570147T>A | CA348869426 | MMADHC | c.718A>T (p.Asn240Tyr) c.820A>T (p.Asn274Tyr) | |
2 | g.149570147T>C | CA1902280 | MMADHC | c.718A>G (p.Asn240Asp) c.820A>G (p.Asn274Asp) | dbSNP ExAC |
2 | g.149570147T>G | CA348869425 | MMADHC | c.718A>C (p.Asn240His) c.820A>C (p.Asn274His) | gnomAD v4 |
2 | g.149570147T= | CA1297264342 | MMADHC | c.718A= (p.Asn240=) c.820A= (p.Asn274=) | |
2 | g.149570148G>A | CA429405956 | MMADHC | c.717C>T (p.Asn239=) c.819C>T (p.Asn273=) | |
2 | g.149570148G>C | CA348869428 | MMADHC | c.717C>G (p.Asn239Lys) c.819C>G (p.Asn273Lys) | COSMIC |
2 | g.149570148G>T | CA348869427 | MMADHC | c.717C>A (p.Asn239Lys) c.819C>A (p.Asn273Lys) | |
2 | g.149570149T>A | CA348869429 | MMADHC | c.716A>T (p.Asn239Ile) c.818A>T (p.Asn273Ile) | |
2 | g.149570149T>C | CA348869430 | MMADHC | c.716A>G (p.Asn239Ser) c.818A>G (p.Asn273Ser) | |
2 | g.149570149T>G | CA348869431 | MMADHC | c.716A>C (p.Asn239Thr) c.818A>C (p.Asn273Thr) | |
2 | g.149570150T>A | CA348869432 | MMADHC | c.715A>T (p.Asn239Tyr) c.817A>T (p.Asn273Tyr) | |
2 | g.149570150T>C | CA348869433 | MMADHC | c.715A>G (p.Asn239Asp) c.817A>G (p.Asn273Asp) | |
2 | g.149570150T>G | CA348869434 | MMADHC | c.715A>C (p.Asn239His) c.817A>C (p.Asn273His) | |
2 | g.149570151T>A | CA429405959 | MMADHC | c.714A>T (p.Thr238=) c.816A>T (p.Thr272=) | |
2 | g.149570151T>C | CA429405958 | MMADHC | c.714A>G (p.Thr238=) c.816A>G (p.Thr272=) | |
2 | g.149570151T>G | CA429405957 | MMADHC | c.714A>C (p.Thr238=) c.816A>C (p.Thr272=) | ClinVar dbSNP |
2 | g.149570152G>A | CA348869435 | MMADHC | c.713C>T (p.Thr238Ile) c.815C>T (p.Thr272Ile) | |
2 | g.149570152G>C | CA348869436 | MMADHC | c.713C>G (p.Thr238Arg) c.815C>G (p.Thr272Arg) | gnomAD v4 COSMIC |
2 | g.149570152G>T | CA348869437 | MMADHC | c.713C>A (p.Thr238Lys) c.815C>A (p.Thr272Lys) | |
2 | g.149570153T>A | CA348869438 | MMADHC | c.712A>T (p.Thr238Ser) c.814A>T (p.Thr272Ser) | |
2 | g.149570153T>C | CA348869439 | MMADHC | c.712A>G (p.Thr238Ala) c.814A>G (p.Thr272Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570153T>G | CA348869440 | MMADHC | c.712A>C (p.Thr238Pro) c.814A>C (p.Thr272Pro) | |
2 | g.149570153T= | CA1297264343 | MMADHC | c.712A= (p.Thr238=) c.814A= (p.Thr272=) | |
2 | g.149570154A= | CA1297264344 | MMADHC | c.711T= (p.Tyr237=) c.813T= (p.Tyr271=) | |
2 | g.149570154A>C | CA348869442 | MMADHC | c.711T>G (p.Tyr237Ter) c.813T>G (p.Tyr271Ter) | |
2 | g.149570154A>G | CA429405960 | MMADHC | c.711T>C (p.Tyr237=) c.813T>C (p.Tyr271=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570154A>T | CA348869441 | MMADHC | c.711T>A (p.Tyr237Ter) c.813T>A (p.Tyr271Ter) | |
2 | g.149570155T>A | CA348869443 | MMADHC | c.710A>T (p.Tyr237Phe) c.812A>T (p.Tyr271Phe) | |
2 | g.149570155T>C | CA348869444 | MMADHC | c.710A>G (p.Tyr237Cys) c.812A>G (p.Tyr271Cys) | gnomAD v4 |
2 | g.149570155T>G | CA348869445 | MMADHC | c.710A>C (p.Tyr237Ser) c.812A>C (p.Tyr271Ser) | |
2 | g.149570156del | CA2661422185 | MMADHC | c.709del (p.Tyr237IlefsTer16) c.811del (p.Tyr271IlefsTer16) | gnomAD v4 |
2 | g.149570156A>C | CA348869446 | MMADHC | c.709T>G (p.Tyr237Asp) c.811T>G (p.Tyr271Asp) | |
2 | g.149570156A>G | CA348869447 | MMADHC | c.709T>C (p.Tyr237His) c.811T>C (p.Tyr271His) | |
2 | g.149570156A>T | CA348869448 | MMADHC | c.709T>A (p.Tyr237Asn) c.811T>A (p.Tyr271Asn) | |
2 | g.149570157T>A | CA429405961 | MMADHC | c.708A>T (p.Pro236=) c.810A>T (p.Pro270=) | |
2 | g.149570157T>C | CA1902281 | MMADHC | c.708A>G (p.Pro236=) c.810A>G (p.Pro270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570157T>G | CA429405962 | MMADHC | c.708A>C (p.Pro236=) c.810A>C (p.Pro270=) | |
2 | g.149570157T= | CA1297264345 | MMADHC | c.708A= (p.Pro236=) c.810A= (p.Pro270=) | |
2 | g.149570158G>A | CA1902282 | MMADHC | c.707C>T (p.Pro236Leu) c.809C>T (p.Pro270Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570158G>C | CA348869449 | MMADHC | c.707C>G (p.Pro236Arg) c.809C>G (p.Pro270Arg) | |
2 | g.149570158G= | CA1297264346 | MMADHC | c.707C= (p.Pro236=) c.809C= (p.Pro270=) | |
2 | g.149570158G>T | CA348869450 | MMADHC | c.707C>A (p.Pro236Gln) c.809C>A (p.Pro270Gln) | |
2 | g.149570159G>A | CA348869451 | MMADHC | c.706C>T (p.Pro236Ser) c.808C>T (p.Pro270Ser) | |
2 | g.149570159G>C | CA348869452 | MMADHC | c.706C>G (p.Pro236Ala) c.808C>G (p.Pro270Ala) | |
2 | g.149570159G>T | CA348869453 | MMADHC | c.706C>A (p.Pro236Thr) c.808C>A (p.Pro270Thr) | |
2 | g.149570160T>A | CA429405963 | MMADHC | c.705A>T (p.Gly235=) c.807A>T (p.Gly269=) | |
2 | g.149570160T>C | CA429405964 | MMADHC | c.705A>G (p.Gly235=) c.807A>G (p.Gly269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570160T>G | CA429405965 | MMADHC | c.705A>C (p.Gly235=) c.807A>C (p.Gly269=) | |
2 | g.149570160T= | CA1297264347 | MMADHC | c.705A= (p.Gly235=) c.807A= (p.Gly269=) | |
2 | g.149570161C>A | CA348869456 | MMADHC | c.704G>T (p.Gly235Val) c.806G>T (p.Gly269Val) | gnomAD v4 |
2 | g.149570161C= | CA1297264348 | MMADHC | c.704G= (p.Gly235=) c.806G= (p.Gly269=) | |
2 | g.149570161C>G | CA348869455 | MMADHC | c.704G>C (p.Gly235Ala) c.806G>C (p.Gly269Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570161C>T | CA348869454 | MMADHC | c.704G>A (p.Gly235Glu) c.806G>A (p.Gly269Glu) | gnomAD v4 |
2 | g.149570162C>A | CA348869457 | MMADHC | c.703G>T (p.Gly235Ter) c.805G>T (p.Gly269Ter) | |
2 | g.149570162C= | CA1297264349 | MMADHC | c.703G= (p.Gly235=) c.805G= (p.Gly269=) | |
2 | g.149570162C>G | CA348869458 | MMADHC | c.703G>C (p.Gly235Arg) c.805G>C (p.Gly269Arg) | |
2 | g.149570162C>T | CA348869459 | MMADHC | c.703G>A (p.Gly235Arg) c.805G>A (p.Gly269Arg) | |
2 | g.149570163A>C | CA348869460 | MMADHC | c.702T>G (p.Phe234Leu) c.804T>G (p.Phe268Leu) | |
2 | g.149570163A>G | CA429405966 | MMADHC | c.702T>C (p.Phe234=) c.804T>C (p.Phe268=) | |
2 | g.149570163A>T | CA348869461 | MMADHC | c.702T>A (p.Phe234Leu) c.804T>A (p.Phe268Leu) | |
2 | g.149570168dup | CA1139657224 | MMADHC | c.702dup (p.Gly235TrpfsTer10) c.804dup (p.Gly269TrpfsTer10) | ClinVar dbSNP |
2 | g.149570168del | CA2661422186 | MMADHC | c.702del (p.Phe234LeufsTer19) c.804del (p.Phe268LeufsTer19) | gnomAD v4 |
2 | g.149570164A>C | CA348869462 | MMADHC | c.701T>G (p.Phe234Cys) c.803T>G (p.Phe268Cys) | |
2 | g.149570164A>G | CA348869463 | MMADHC | c.701T>C (p.Phe234Ser) c.803T>C (p.Phe268Ser) | |
2 | g.149570164A>T | CA348869464 | MMADHC | c.701T>A (p.Phe234Tyr) c.803T>A (p.Phe268Tyr) | |
2 | g.149570165A>C | CA348869465 | MMADHC | c.700T>G (p.Phe234Val) c.802T>G (p.Phe268Val) | |
2 | g.149570165A>G | CA348869466 | MMADHC | c.700T>C (p.Phe234Leu) c.802T>C (p.Phe268Leu) | |
2 | g.149570165A>T | CA348869467 | MMADHC | c.700T>A (p.Phe234Ile) c.802T>A (p.Phe268Ile) | |
2 | g.149570166A= | CA1297264350 | MMADHC | c.699T= (p.Phe233=) c.801T= (p.Phe267=) | |
2 | g.149570166A>C | CA348869468 | MMADHC | c.699T>G (p.Phe233Leu) c.801T>G (p.Phe267Leu) | |
2 | g.149570166A>G | CA429405967 | MMADHC | c.699T>C (p.Phe233=) c.801T>C (p.Phe267=) | ClinVar dbSNP |
2 | g.149570166A>T | CA348869469 | MMADHC | c.699T>A (p.Phe233Leu) c.801T>A (p.Phe267Leu) | |
2 | g.149570167A>C | CA348869472 | MMADHC | c.698T>G (p.Phe233Cys) c.800T>G (p.Phe267Cys) | |
2 | g.149570167A>G | CA348869470 | MMADHC | c.698T>C (p.Phe233Ser) c.800T>C (p.Phe267Ser) | |
2 | g.149570167A>T | CA348869471 | MMADHC | c.698T>A (p.Phe233Tyr) c.800T>A (p.Phe267Tyr) | |
2 | g.149570168A= | CA1297264351 | MMADHC | c.697T= (p.Phe233=) c.799T= (p.Phe267=) | |
2 | g.149570168A>C | CA348869473 | MMADHC | c.697T>G (p.Phe233Val) c.799T>G (p.Phe267Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570168A>G | CA348869474 | MMADHC | c.697T>C (p.Phe233Leu) c.799T>C (p.Phe267Leu) | |
2 | g.149570168A>T | CA348869475 | MMADHC | c.697T>A (p.Phe233Ile) c.799T>A (p.Phe267Ile) | |
2 | g.149570168_149570169insTGCCAAACCAGATGATGGGTCAATAAAGTCAGCCCAATAACCCTCAG | CA2661422187 | MMADHC | c.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA (n.697-1_697insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA) c.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA (n.799-1_799insCTGAGGGTTATTGGGCTGACTTTATTGACCCATCATCTGGTTTGGCA) | gnomAD v4 |
2 | g.149570169C>A | CA348869476 | MMADHC | c.697-1G>T (n.697-1G>T) c.799-1G>T (n.799-1G>T) | |
2 | g.149570169C>G | CA348869477 | MMADHC | c.697-1G>C (n.697-1G>C) c.799-1G>C (n.799-1G>C) | |
2 | g.149570169C>T | CA348869478 | MMADHC | c.697-1G>A (n.697-1G>A) c.799-1G>A (n.799-1G>A) | |
2 | g.149570170T>A | CA348869479 | MMADHC | c.697-2A>T (n.697-2A>T) c.799-2A>T (n.799-2A>T) | |
2 | g.149570170T>C | CA348869480 | MMADHC | c.697-2A>G (n.697-2A>G) c.799-2A>G (n.799-2A>G) | dbSNP |
2 | g.149570170T>G | CA348869481 | MMADHC | c.697-2A>C (n.697-2A>C) c.799-2A>C (n.799-2A>C) | |
2 | g.149570170T= | CA1297264352 | MMADHC | c.697-2A= (n.697-2A=) c.799-2A= (n.799-2A=) | |
2 | g.149570170_149570171del | CA2661422188 | MMADHC | c.697-3_697-2del (n.697-3_697-2del) c.799-3_799-2del (n.799-3_799-2del) | gnomAD v4 |
2 | g.149570171G>A | CA1902283 | MMADHC | c.697-3C>T (n.697-3C>T) c.799-3C>T (n.799-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570171G= | CA1297264353 | MMADHC | c.697-3C= (n.697-3C=) c.799-3C= (n.799-3C=) | |
2 | g.149570172A= | CA1297264354 | MMADHC | c.697-4T= (n.697-4T=) c.799-4T= (n.799-4T=) | |
2 | g.149570172A>G | CA1902284 | MMADHC | c.697-4T>C (n.697-4T>C) c.799-4T>C (n.799-4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570173G>A | CA537032347 | MMADHC | c.697-5C>T (n.697-5C>T) c.799-5C>T (n.799-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570173G= | CA1297264355 | MMADHC | c.697-5C= (n.697-5C=) c.799-5C= (n.799-5C=) | |
2 | g.149570173G>T | CA2533726285 | MMADHC | c.697-5C>A (n.697-5C>A) c.799-5C>A (n.799-5C>A) | |
2 | g.149570174G>T | CA2661422189 | MMADHC | c.697-6C>A (n.697-6C>A) c.799-6C>A (n.799-6C>A) | gnomAD v4 |