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 |
|---|---|---|---|---|---|
| 1 | g.197143676T>A | CA422804484 | ASPM | c.576A>T (p.Leu192=) n.793A>T c.561+15A>T (n.561+15A>T) | |
| 1 | g.197143676T>C | CA1310850 | ASPM | c.576A>G (p.Leu192=) n.793A>G c.561+15A>G (n.561+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143676T>G | CA422804485 | ASPM | c.576A>C (p.Leu192=) n.793A>C c.561+15A>C (n.561+15A>C) | |
| 1 | g.197143676T= | CA1141985124 | ASPM | c.576A= (p.Leu192=) n.793A= c.561+15A= (n.561+15A=) | |
| 1 | g.197143677A= | CA1141819458 | ASPM | c.575T= (p.Leu192=) n.792T= c.561+14T= (n.561+14T=) | |
| 1 | g.197143677A>C | CA1310851 | ASPM | c.575T>G (p.Leu192Arg) n.792T>G c.561+14T>G (n.561+14T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143677A>G | CA344020129 | ASPM | c.575T>C (p.Leu192Pro) n.792T>C c.561+14T>C (n.561+14T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143677A>T | CA344020131 | ASPM | c.575T>A (p.Leu192Gln) n.792T>A c.561+14T>A (n.561+14T>A) | |
| 1 | g.197143678G>A | CA1310852 | ASPM | c.574C>T (p.Leu192=) n.791C>T c.561+13C>T (n.561+13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143678G>C | CA344020137 | ASPM | c.574C>G (p.Leu192Val) n.791C>G c.561+13C>G (n.561+13C>G) | |
| 1 | g.197143678G= | CA1217946689 | ASPM | c.574C= (p.Leu192=) n.791C= c.561+13C= (n.561+13C=) | |
| 1 | g.197143678G>T | CA344020134 | ASPM | c.574C>A (p.Leu192Ile) n.791C>A c.561+13C>A (n.561+13C>A) | |
| 1 | g.197143679T>A | CA422804486 | ASPM | c.573A>T (p.Pro191=) n.790A>T c.561+12A>T (n.561+12A>T) | |
| 1 | g.197143679T>C | CA1310853 | ASPM | c.573A>G (p.Pro191=) n.790A>G c.561+12A>G (n.561+12A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143679T>G | CA422804488 | ASPM | c.573A>C (p.Pro191=) n.790A>C c.561+12A>C (n.561+12A>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197143679T= | CA1217946690 | ASPM | c.573A= (p.Pro191=) n.790A= c.561+12A= (n.561+12A=) | |
| 1 | g.197143680G>A | CA35861917 | ASPM | c.572C>T (p.Pro191Leu) n.789C>T c.561+11C>T (n.561+11C>T) | dbSNP |
| 1 | g.197143680G>C | CA344020142 | ASPM | c.572C>G (p.Pro191Arg) n.789C>G c.561+11C>G (n.561+11C>G) | |
| 1 | g.197143680G= | CA1143537113 | ASPM | c.572C= (p.Pro191=) n.789C= c.561+11C= (n.561+11C=) | |
| 1 | g.197143680G>T | CA344020143 | ASPM | c.572C>A (p.Pro191Gln) n.789C>A c.561+11C>A (n.561+11C>A) | |
| 1 | g.197143681G>A | CA344020148 | ASPM | c.571C>T (p.Pro191Ser) n.788C>T c.561+10C>T (n.561+10C>T) | gnomAD v4 COSMIC |
| 1 | g.197143681G>C | CA344020146 | ASPM | c.571C>G (p.Pro191Ala) n.788C>G c.561+10C>G (n.561+10C>G) | |
| 1 | g.197143681G>T | CA344020144 | ASPM | c.571C>A (p.Pro191Thr) n.788C>A c.561+10C>A (n.561+10C>A) | |
| 1 | g.197143682G>A | CA422804577 | ASPM | c.570C>T (p.Ser190=) n.787C>T c.561+9C>T (n.561+9C>T) | COSMIC |
| 1 | g.197143682G>C | CA344020150 | ASPM | c.570C>G (p.Ser190Arg) n.787C>G c.561+9C>G (n.561+9C>G) | |
| 1 | g.197143682G>T | CA344020153 | ASPM | c.570C>A (p.Ser190Arg) n.787C>A c.561+9C>A (n.561+9C>A) | gnomAD v4 |
| 1 | g.197143682_197143685delinsGCTC | CA1217946691 | ASPM | c.567_570delinsGAGC (p.Arg189=) n.784_787delinsGAGC c.561+6_561+9delinsGAGC (n.561+6_561+9delinsGAGC) | |
| 1 | g.197143683C>A | CA344020156 | ASPM | c.569G>T (p.Ser190Ile) n.786G>T c.561+8G>T (n.561+8G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197143683C= | CA1217946692 | ASPM | c.569G= (p.Ser190=) n.786G= c.561+8G= (n.561+8G=) | |
| 1 | g.197143683C>G | CA344020157 | ASPM | c.569G>C (p.Ser190Thr) n.786G>C c.561+8G>C (n.561+8G>C) | |
| 1 | g.197143683C>T | CA344020160 | ASPM | c.569G>A (p.Ser190Asn) n.786G>A c.561+8G>A (n.561+8G>A) | |
| 1 | g.197143683_197143687delinsCTCCT | CA1148875272 | ASPM | c.565_569delinsAGGAG (p.Arg189=) n.782_786delinsAGGAG c.561+4_561+8delinsAGGAG (n.561+4_561+8delinsAGGAG) | |
| 1 | g.197143685_197143687del | CA1310854 | ASPM | c.567_569del (p.Arg189del) n.784_786del c.561+6_561+8del (n.561+6_561+8del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143684T>A | CA344020166 | ASPM | c.568A>T (p.Ser190Cys) n.785A>T c.561+7A>T (n.561+7A>T) | |
| 1 | g.197143684T>C | CA344020165 | ASPM | c.568A>G (p.Ser190Gly) n.785A>G c.561+7A>G (n.561+7A>G) | |
| 1 | g.197143684T>G | CA344020163 | ASPM | c.568A>C (p.Ser190Arg) n.785A>C c.561+7A>C (n.561+7A>C) | |
| 1 | g.197143685C>A | CA344020168 | ASPM | c.567G>T (p.Arg189Ser) n.784G>T c.561+6G>T (n.561+6G>T) | |
| 1 | g.197143685C= | CA1217946693 | ASPM | c.567G= (p.Arg189=) n.784G= c.561+6G= (n.561+6G=) | |
| 1 | g.197143685C>G | CA344020170 | ASPM | c.567G>C (p.Arg189Ser) n.784G>C c.561+6G>C (n.561+6G>C) | |
| 1 | g.197143685C>T | CA1310855 | ASPM | c.567G>A (p.Arg189=) n.784G>A c.561+6G>A (n.561+6G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143686C>A | CA344020175 | ASPM | c.566G>T (p.Arg189Met) n.783G>T c.561+5G>T (n.561+5G>T) | |
| 1 | g.197143686C>G | CA344020176 | ASPM | c.566G>C (p.Arg189Thr) n.783G>C c.561+5G>C (n.561+5G>C) | |
| 1 | g.197143686C>T | CA344020178 | ASPM | c.566G>A (p.Arg189Lys) n.783G>A c.561+5G>A (n.561+5G>A) | |
| 1 | g.197143687T>A | CA344020181 | ASPM | c.565A>T (p.Arg189Trp) n.782A>T c.561+4A>T (n.561+4A>T) | |
| 1 | g.197143687T>C | CA344020182 | ASPM | c.565A>G (p.Arg189Gly) n.782A>G c.561+4A>G (n.561+4A>G) | |
| 1 | g.197143687T>G | CA422804587 | ASPM | c.565A>C (p.Arg189=) n.782A>C c.561+4A>C (n.561+4A>C) | |
| 1 | g.197143688A>C | CA422804588 | ASPM | c.564T>G (p.Val188=) n.781T>G c.561+3T>G (n.561+3T>G) | |
| 1 | g.197143688A>G | CA422804589 | ASPM | c.564T>C (p.Val188=) n.781T>C c.561+3T>C (n.561+3T>C) | |
| 1 | g.197143688A>T | CA422804590 | ASPM | c.564T>A (p.Val188=) n.781T>A c.561+3T>A (n.561+3T>A) | |
| 1 | g.197143689A>C | CA344020185 | ASPM | c.563T>G (p.Val188Gly) n.780T>G c.561+2T>G (n.561+2T>G) | |
| 1 | g.197143689A>G | CA344020186 | ASPM | c.563T>C (p.Val188Ala) n.780T>C c.561+2T>C (n.561+2T>C) | |
| 1 | g.197143689A>T | CA344020188 | ASPM | c.563T>A (p.Val188Asp) n.780T>A c.561+2T>A (n.561+2T>A) | |
| 1 | g.197143689_197143691delinsACT | CA1217946694 | ASPM | c.561_563delinsAGT (p.Arg187=) n.778_780delinsAGT c.561_561+2delinsAGT | |
| 1 | g.197143690C>A | CA344020190 | ASPM | c.562G>T (p.Val188Phe) n.779G>T c.561+1G>T (n.561+1G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143690C= | CA1148224872 | ASPM | c.562G= (p.Val188=) n.779G= c.561+1G= (n.561+1G=) | |
| 1 | g.197143690C>G | CA271065 | ASPM | c.562G>C (p.Val188Leu) n.779G>C c.561+1G>C (n.561+1G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197143690C>T | CA344020194 | ASPM | c.562G>A (p.Val188Ile) n.779G>A c.561+1G>A (n.561+1G>A) | gnomAD v4 |
| 1 | g.197143692_197143693del | CA528535244 | ASPM | c.561_562del (p.Arg187SerfsTer2) n.778_779del c.561_561+1del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143691_197143696del | CA2563865468 | ASPM | c.557_562del (p.Asp186_Arg187del) n.774_779del c.557_561+1del | |
| 1 | g.197143691T>A | CA344020195 | ASPM | c.561A>T (p.Arg187Ser) n.778A>T | |
| 1 | g.197143691T>C | CA422804595 | ASPM | c.561A>G (p.Arg187=) n.778A>G | |
| 1 | g.197143691T>G | CA344020197 | ASPM | c.561A>C (p.Arg187Ser) n.778A>C | |
| 1 | g.197143691_197143692insTTTA | CA2649664229 | ASPM | c.560_561insTAAA (p.Arg187SerfsTer4) n.777_778insTAAA c.560_561insTAAA (p.Arg187SerfsTer11) | gnomAD v4 |
| 1 | g.197143692C>A | CA344020200 | ASPM | c.560G>T (p.Arg187Ile) n.777G>T | |
| 1 | g.197143692C= | CA1217946695 | ASPM | c.560G= (p.Arg187=) n.777G= | |
| 1 | g.197143692C>G | CA344020202 | ASPM | c.560G>C (p.Arg187Thr) n.777G>C | |
| 1 | g.197143692C>T | CA344020203 | ASPM | c.560G>A (p.Arg187Lys) n.777G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143693T>A | CA344020205 | ASPM | c.559A>T (p.Arg187Ter) n.776A>T | |
| 1 | g.197143693T>C | CA1310856 | ASPM | c.559A>G (p.Arg187Gly) n.776A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143693T>G | CA422804598 | ASPM | c.559A>C (p.Arg187=) n.776A>C | |
| 1 | g.197143693T= | CA1143475752 | ASPM | c.559A= (p.Arg187=) n.776A= | |
| 1 | g.197143693dup | CA528535245 | ASPM | c.559dup (p.Arg187LysfsTer3) n.776dup c.559dup (p.Arg187LysfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143694G>A | CA422804599 | ASPM | c.558C>T (p.Asp186=) n.775C>T | |
| 1 | g.197143694G>C | CA35861928 | ASPM | c.558C>G (p.Asp186Glu) n.775C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143694G= | CA1217946696 | ASPM | c.558C= (p.Asp186=) n.775C= | |
| 1 | g.197143694G>T | CA344020208 | ASPM | c.558C>A (p.Asp186Glu) n.775C>A | |
| 1 | g.197143695T>A | CA344020211 | ASPM | c.557A>T (p.Asp186Val) n.774A>T | gnomAD v4 |
| 1 | g.197143695T>C | CA344020213 | ASPM | c.557A>G (p.Asp186Gly) n.774A>G | |
| 1 | g.197143695T>G | CA344020215 | ASPM | c.557A>C (p.Asp186Ala) n.774A>C | |
| 1 | g.197143696C>A | CA344020217 | ASPM | c.556G>T (p.Asp186Tyr) n.773G>T | |
| 1 | g.197143696C>G | CA344020219 | ASPM | c.556G>C (p.Asp186His) n.773G>C | |
| 1 | g.197143696C>T | CA344020221 | ASPM | c.556G>A (p.Asp186Asn) n.773G>A | |
| 1 | g.197143697A>C | CA422804606 | ASPM | c.555T>G (p.Val185=) n.772T>G | |
| 1 | g.197143697A>G | CA422804607 | ASPM | c.555T>C (p.Val185=) n.772T>C | |
| 1 | g.197143697A>T | CA422804609 | ASPM | c.555T>A (p.Val185=) n.772T>A | |
| 1 | g.197143698A= | CA1217946697 | ASPM | c.554T= (p.Val185=) n.771T= | |
| 1 | g.197143698A>C | CA344020225 | ASPM | c.554T>G (p.Val185Gly) n.771T>G | |
| 1 | g.197143698A>G | CA35861931 | ASPM | c.554T>C (p.Val185Ala) n.771T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143698A>T | CA344020223 | ASPM | c.554T>A (p.Val185Asp) n.771T>A | |
| 1 | g.197143698_197143705del | CA2505827866 | ASPM | c.547_554del (p.Gln183Ter) n.764_771del | |
| 1 | g.197143699C>A | CA344020228 | ASPM | c.553G>T (p.Val185Phe) n.770G>T | dbSNP gnomAD v4 |
| 1 | g.197143699C= | CA1217946698 | ASPM | c.553G= (p.Val185=) n.770G= | |
| 1 | g.197143699C>G | CA344020232 | ASPM | c.553G>C (p.Val185Leu) n.770G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143699C>T | CA344020230 | ASPM | c.553G>A (p.Val185Ile) n.770G>A | gnomAD v4 |
| 1 | g.197143699_197143700delinsCT | CA1217946699 | ASPM | c.552_553delinsAG (p.Lys184=) n.769_770delinsAG | |
| 1 | g.197143700T>A | CA344020239 | ASPM | c.552A>T (p.Lys184Asn) n.769A>T | |
| 1 | g.197143700T>C | CA422804616 | ASPM | c.552A>G (p.Lys184=) n.769A>G | |
| 1 | g.197143700T>G | CA344020241 | ASPM | c.552A>C (p.Lys184Asn) n.769A>C | |
| 1 | g.197143704del | CA729724564 | ASPM | c.552del (p.Val185LeufsTer16) n.769del c.552del (p.Val185LeufsTer14) | dbSNP |
| 1 | g.197143701T>A | CA344020244 | ASPM | c.551A>T (p.Lys184Ile) n.768A>T | |
| 1 | g.197143701T>C | CA344020248 | ASPM | c.551A>G (p.Lys184Arg) n.768A>G | |
| 1 | g.197143701T>G | CA344020246 | ASPM | c.551A>C (p.Lys184Thr) n.768A>C | |
| 1 | g.197143702T>A | CA35861932 | ASPM | c.550A>T (p.Lys184Ter) n.767A>T | dbSNP |
| 1 | g.197143702T>C | CA344020252 | ASPM | c.550A>G (p.Lys184Glu) n.767A>G | |
| 1 | g.197143702T>G | CA344020254 | ASPM | c.550A>C (p.Lys184Gln) n.767A>C | |
| 1 | g.197143702T= | CA1217946700 | ASPM | c.550A= (p.Lys184=) n.767A= | |
| 1 | g.197143703T>A | CA344020256 | ASPM | c.549A>T (p.Gln183His) n.766A>T | |
| 1 | g.197143703T>C | CA422804620 | ASPM | c.549A>G (p.Gln183=) n.766A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143703T>G | CA344020258 | ASPM | c.549A>C (p.Gln183His) n.766A>C | |
| 1 | g.197143703T= | CA1217946701 | ASPM | c.549A= (p.Gln183=) n.766A= | |
| 1 | g.197143704T>A | CA344020261 | ASPM | c.548A>T (p.Gln183Leu) n.765A>T | |
| 1 | g.197143704T>C | CA344020262 | ASPM | c.548A>G (p.Gln183Arg) n.765A>G | |
| 1 | g.197143704T>G | CA344020265 | ASPM | c.548A>C (p.Gln183Pro) n.765A>C | |
| 1 | g.197143705G>A | CA344020269 | ASPM | c.547C>T (p.Gln183Ter) n.764C>T | |
| 1 | g.197143705G>C | CA1310857 | ASPM | c.547C>G (p.Gln183Glu) n.764C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143705G= | CA1217946702 | ASPM | c.547C= (p.Gln183=) n.764C= | |
| 1 | g.197143705G>T | CA344020272 | ASPM | c.547C>A (p.Gln183Lys) n.764C>A | |
| 1 | g.197143706G>A | CA422804625 | ASPM | c.546C>T (p.Ser182=) n.763C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197143706G>C | CA422804626 | ASPM | c.546C>G (p.Ser182=) n.763C>G | |
| 1 | g.197143706G= | CA1217946703 | ASPM | c.546C= (p.Ser182=) n.763C= | |
| 1 | g.197143706G>T | CA422804627 | ASPM | c.546C>A (p.Ser182=) n.763C>A | |
| 1 | g.197143707G>A | CA35861933 | ASPM | c.545C>T (p.Ser182Phe) n.762C>T | dbSNP gnomAD v4 COSMIC |
| 1 | g.197143707G>C | CA344020277 | ASPM | c.545C>G (p.Ser182Cys) n.762C>G | |
| 1 | g.197143707G= | CA1217946704 | ASPM | c.545C= (p.Ser182=) n.762C= | |
| 1 | g.197143707G>T | CA344020274 | ASPM | c.545C>A (p.Ser182Tyr) n.762C>A | |
| 1 | g.197143708A= | CA1217946705 | ASPM | c.544T= (p.Ser182=) n.761T= | |
| 1 | g.197143708A>C | CA344020279 | ASPM | c.544T>G (p.Ser182Ala) n.761T>G | |
| 1 | g.197143708A>G | CA344020280 | ASPM | c.544T>C (p.Ser182Pro) n.761T>C | dbSNP |
| 1 | g.197143708A>T | CA344020283 | ASPM | c.544T>A (p.Ser182Thr) n.761T>A | |
| 1 | g.197143709A>C | CA422804634 | ASPM | c.543T>G (p.Val181=) n.760T>G | |
| 1 | g.197143709A>G | CA422804635 | ASPM | c.543T>C (p.Val181=) n.760T>C | |
| 1 | g.197143709A>T | CA422804633 | ASPM | c.543T>A (p.Val181=) n.760T>A | |
| 1 | g.197143710A>C | CA344020286 | ASPM | c.542T>G (p.Val181Gly) n.759T>G | |
| 1 | g.197143710A>G | CA344020288 | ASPM | c.542T>C (p.Val181Ala) n.759T>C | |
| 1 | g.197143710A>T | CA344020290 | ASPM | c.542T>A (p.Val181Asp) n.759T>A | |
| 1 | g.197143711C>A | CA344020293 | ASPM | c.541G>T (p.Val181Phe) n.758G>T | |
| 1 | g.197143711C>G | CA344020294 | ASPM | c.541G>C (p.Val181Leu) n.758G>C | |
| 1 | g.197143711C>T | CA344020296 | ASPM | c.541G>A (p.Val181Ile) n.758G>A | |
| 1 | g.197143712A>C | CA344020298 | ASPM | c.540T>G (p.Ser180Arg) n.757T>G | |
| 1 | g.197143712A>G | CA422804643 | ASPM | c.540T>C (p.Ser180=) n.757T>C | |
| 1 | g.197143712A>T | CA344020300 | ASPM | c.540T>A (p.Ser180Arg) n.757T>A | |
| 1 | g.197143713C>A | CA344020307 | ASPM | c.539G>T (p.Ser180Ile) n.756G>T | |
| 1 | g.197143713C>G | CA344020304 | ASPM | c.539G>C (p.Ser180Thr) n.756G>C | |
| 1 | g.197143713C>T | CA344020303 | ASPM | c.539G>A (p.Ser180Asn) n.756G>A | |
| 1 | g.197143714T>A | CA344020308 | ASPM | c.538A>T (p.Ser180Cys) n.755A>T | |
| 1 | g.197143714T>C | CA344020309 | ASPM | c.538A>G (p.Ser180Gly) n.755A>G | |
| 1 | g.197143714T>G | CA344020311 | ASPM | c.538A>C (p.Ser180Arg) n.755A>C | |
| 1 | g.197143715A>C | CA344020312 | ASPM | c.537T>G (p.Phe179Leu) n.754T>G | |
| 1 | g.197143715A>G | CA422804646 | ASPM | c.537T>C (p.Phe179=) n.754T>C | |
| 1 | g.197143715A>T | CA344020314 | ASPM | c.537T>A (p.Phe179Leu) n.754T>A | |
| 1 | g.197143716A= | CA1217946706 | ASPM | c.536T= (p.Phe179=) n.753T= | |
| 1 | g.197143716A>C | CA344020320 | ASPM | c.536T>G (p.Phe179Cys) n.753T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143716A>G | CA344020319 | ASPM | c.536T>C (p.Phe179Ser) n.753T>C | |
| 1 | g.197143716A>T | CA344020317 | ASPM | c.536T>A (p.Phe179Tyr) n.753T>A | |
| 1 | g.197143717A>C | CA344020322 | ASPM | c.535T>G (p.Phe179Val) n.752T>G | |
| 1 | g.197143717A>G | CA344020324 | ASPM | c.535T>C (p.Phe179Leu) n.752T>C | |
| 1 | g.197143717A>T | CA344020326 | ASPM | c.535T>A (p.Phe179Ile) n.752T>A | |
| 1 | g.197143718T>A | CA422804649 | ASPM | c.534A>T (p.Thr178=) n.751A>T | |
| 1 | g.197143718T>C | CA422804650 | ASPM | c.534A>G (p.Thr178=) n.751A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143718T>G | CA422804651 | ASPM | c.534A>C (p.Thr178=) n.751A>C | |
| 1 | g.197143718T= | CA1217946707 | ASPM | c.534A= (p.Thr178=) n.751A= | |
| 1 | g.197143719G>A | CA344020329 | ASPM | c.533C>T (p.Thr178Ile) n.750C>T | dbSNP gnomAD v4 |
| 1 | g.197143719G>C | CA344020331 | ASPM | c.533C>G (p.Thr178Arg) n.750C>G | |
| 1 | g.197143719G= | CA1217946708 | ASPM | c.533C= (p.Thr178=) n.750C= | |
| 1 | g.197143719G>T | CA344020333 | ASPM | c.533C>A (p.Thr178Lys) n.750C>A | |
| 1 | g.197143720T>A | CA344020336 | ASPM | c.532A>T (p.Thr178Ser) n.749A>T | |
| 1 | g.197143720T>C | CA35861935 | ASPM | c.532A>G (p.Thr178Ala) n.749A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197143720T>G | CA344020339 | ASPM | c.532A>C (p.Thr178Pro) n.749A>C | |
| 1 | g.197143720T= | CA1145140477 | ASPM | c.532A= (p.Thr178=) n.749A= | |
| 1 | g.197143723del | CA2580061806 | ASPM | c.532del (p.Thr178HisfsTer23) n.749del c.532del (p.Thr178HisfsTer21) | ClinVar |
| 1 | g.197143721T>A | CA344020342 | ASPM | c.531A>T (p.Lys177Asn) n.748A>T | |
| 1 | g.197143721T>C | CA422804659 | ASPM | c.531A>G (p.Lys177=) n.748A>G | gnomAD v4 |
| 1 | g.197143721T>G | CA344020344 | ASPM | c.531A>C (p.Lys177Asn) n.748A>C | |
| 1 | g.197143722T>A | CA344020346 | ASPM | c.530A>T (p.Lys177Ile) n.747A>T | |
| 1 | g.197143722T>C | CA344020348 | ASPM | c.530A>G (p.Lys177Arg) n.747A>G | gnomAD v4 |
| 1 | g.197143722T>G | CA344020349 | ASPM | c.530A>C (p.Lys177Thr) n.747A>C | gnomAD v4 |
| 1 | g.197143723T>A | CA344020351 | ASPM | c.529A>T (p.Lys177Ter) n.746A>T | COSMIC |
| 1 | g.197143723T>C | CA344020353 | ASPM | c.529A>G (p.Lys177Glu) n.746A>G | |
| 1 | g.197143723T>G | CA344020355 | ASPM | c.529A>C (p.Lys177Gln) n.746A>C | |
| 1 | g.197143724A>C | CA344020358 | ASPM | c.528T>G (p.Asn176Lys) n.745T>G | |
| 1 | g.197143724A>G | CA422804662 | ASPM | c.528T>C (p.Asn176=) n.745T>C | |
| 1 | g.197143724A>T | CA344020360 | ASPM | c.528T>A (p.Asn176Lys) n.745T>A | |
| 1 | g.197143725T>A | CA344020367 | ASPM | c.527A>T (p.Asn176Ile) n.744A>T | |
| 1 | g.197143725T>C | CA344020365 | ASPM | c.527A>G (p.Asn176Ser) n.744A>G | |
| 1 | g.197143725T>G | CA344020363 | ASPM | c.527A>C (p.Asn176Thr) n.744A>C | |
| 1 | g.197143726T>A | CA344020369 | ASPM | c.526A>T (p.Asn176Tyr) n.743A>T | |
| 1 | g.197143726T>C | CA344020371 | ASPM | c.526A>G (p.Asn176Asp) n.743A>G | |
| 1 | g.197143726T>G | CA344020374 | ASPM | c.526A>C (p.Asn176His) n.743A>C | |
| 1 | g.197143727A= | CA1217946709 | ASPM | c.525T= (p.Val175=) n.742T= | |
| 1 | g.197143727A>C | CA422804665 | ASPM | c.525T>G (p.Val175=) n.742T>G | |
| 1 | g.197143727A>G | CA422804666 | ASPM | c.525T>C (p.Val175=) n.742T>C | |
| 1 | g.197143727A>T | CA422804667 | ASPM | c.525T>A (p.Val175=) n.742T>A | |
| 1 | g.197143728A>C | CA344020376 | ASPM | c.524T>G (p.Val175Gly) n.741T>G | |
| 1 | g.197143728A>G | CA344020378 | ASPM | c.524T>C (p.Val175Ala) n.741T>C | |
| 1 | g.197143728A>T | CA344020379 | ASPM | c.524T>A (p.Val175Asp) n.741T>A | |
| 1 | g.197143729_197143730dup | CA658795578 | ASPM | c.523_524dup (p.Asn176LeufsTer26) n.740_741dup c.523_524dup (p.Asn176LeufsTer24) | ClinVar dbSNP |
| 1 | g.197143729C>A | CA344020385 | ASPM | c.523G>T (p.Val175Phe) n.740G>T | |
| 1 | g.197143729C= | CA1143515748 | ASPM | c.523G= (p.Val175=) n.740G= | |
| 1 | g.197143729C>G | CA344020382 | ASPM | c.523G>C (p.Val175Leu) n.740G>C | |
| 1 | g.197143729C>T | CA1310858 | ASPM | c.523G>A (p.Val175Ile) n.740G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143730A= | CA1217946710 | ASPM | c.522T= (p.Asn174=) n.739T= | |
| 1 | g.197143730A>C | CA344020387 | ASPM | c.522T>G (p.Asn174Lys) n.739T>G | |
| 1 | g.197143730A>G | CA422804671 | ASPM | c.522T>C (p.Asn174=) n.739T>C | gnomAD v4 |
| 1 | g.197143730A>T | CA344020389 | ASPM | c.522T>A (p.Asn174Lys) n.739T>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197143731T>A | CA35861942 | ASPM | c.521A>T (p.Asn174Ile) n.738A>T | dbSNP |
| 1 | g.197143731T>C | CA344020394 | ASPM | c.521A>G (p.Asn174Ser) n.738A>G | |
| 1 | g.197143731T>G | CA344020395 | ASPM | c.521A>C (p.Asn174Thr) n.738A>C | |
| 1 | g.197143731T= | CA1217946711 | ASPM | c.521A= (p.Asn174=) n.738A= | |
| 1 | g.197143732T>A | CA344020401 | ASPM | c.520A>T (p.Asn174Tyr) n.737A>T | |
| 1 | g.197143732T>C | CA344020398 | ASPM | c.520A>G (p.Asn174Asp) n.737A>G | gnomAD v4 |
| 1 | g.197143732T>G | CA344020399 | ASPM | c.520A>C (p.Asn174His) n.737A>C | |
| 1 | g.197143733C>A | CA344020403 | ASPM | c.519G>T (p.Gln173His) n.736G>T | gnomAD v4 |
| 1 | g.197143733C>G | CA344020404 | ASPM | c.519G>C (p.Gln173His) n.736G>C | |
| 1 | g.197143733C>T | CA422804676 | ASPM | c.519G>A (p.Gln173=) n.736G>A | |
| 1 | g.197143734T>A | CA344020405 | ASPM | c.518A>T (p.Gln173Leu) n.735A>T | dbSNP gnomAD v4 |
| 1 | g.197143734T>C | CA344020407 | ASPM | c.518A>G (p.Gln173Arg) n.735A>G | |
| 1 | g.197143734T>G | CA344020408 | ASPM | c.518A>C (p.Gln173Pro) n.735A>C | gnomAD v4 |
| 1 | g.197143734T= | CA1217946712 | ASPM | c.518A= (p.Gln173=) n.735A= | |
| 1 | g.197143735G>A | CA344020410 | ASPM | c.517C>T (p.Gln173Ter) n.734C>T | |
| 1 | g.197143735G>C | CA344020411 | ASPM | c.517C>G (p.Gln173Glu) n.734C>G | |
| 1 | g.197143735G>T | CA344020413 | ASPM | c.517C>A (p.Gln173Lys) n.734C>A | |
| 1 | g.197143736A= | CA1217946713 | ASPM | c.516T= (p.Ile172=) n.733T= | |
| 1 | g.197143736A>C | CA344020415 | ASPM | c.516T>G (p.Ile172Met) n.733T>G | |
| 1 | g.197143736A>G | CA422804680 | ASPM | c.516T>C (p.Ile172=) n.733T>C | |
| 1 | g.197143736A>T | CA35861952 | ASPM | c.516T>A (p.Ile172=) n.733T>A | dbSNP |
| 1 | g.197143737A= | CA1217946714 | ASPM | c.515T= (p.Ile172=) n.732T= | |
| 1 | g.197143737A>C | CA1310859 | ASPM | c.515T>G (p.Ile172Ser) n.732T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143737A>G | CA344020420 | ASPM | c.515T>C (p.Ile172Thr) n.732T>C | gnomAD v4 |
| 1 | g.197143737A>T | CA344020422 | ASPM | c.515T>A (p.Ile172Asn) n.732T>A | gnomAD v4 |
| 1 | g.197143738T>A | CA344020425 | ASPM | c.514A>T (p.Ile172Phe) n.731A>T | |
| 1 | g.197143738T>C | CA344020429 | ASPM | c.514A>G (p.Ile172Val) n.731A>G | |
| 1 | g.197143738T>G | CA344020427 | ASPM | c.514A>C (p.Ile172Leu) n.731A>C | gnomAD v4 |
| 1 | g.197143739A>C | CA344020431 | ASPM | c.513T>G (p.Asn171Lys) n.730T>G | |
| 1 | g.197143739A>G | CA422804682 | ASPM | c.513T>C (p.Asn171=) n.730T>C | |
| 1 | g.197143739A>T | CA344020433 | ASPM | c.513T>A (p.Asn171Lys) n.730T>A | |
| 1 | g.197143740T>A | CA344020435 | ASPM | c.512A>T (p.Asn171Ile) n.729A>T | |
| 1 | g.197143740T>C | CA344020436 | ASPM | c.512A>G (p.Asn171Ser) n.729A>G | |
| 1 | g.197143740T>G | CA344020438 | ASPM | c.512A>C (p.Asn171Thr) n.729A>C | |
| 1 | g.197143741T>A | CA344020440 | ASPM | c.511A>T (p.Asn171Tyr) n.728A>T | |
| 1 | g.197143741T>C | CA344020442 | ASPM | c.511A>G (p.Asn171Asp) n.728A>G | dbSNP |
| 1 | g.197143741T>G | CA344020444 | ASPM | c.511A>C (p.Asn171His) n.728A>C | |
| 1 | g.197143742T>A | CA422804686 | ASPM | c.510A>T (p.Ser170=) n.727A>T | |
| 1 | g.197143742T>C | CA422804687 | ASPM | c.510A>G (p.Ser170=) n.727A>G | |
| 1 | g.197143742T>G | CA422804688 | ASPM | c.510A>C (p.Ser170=) n.727A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143742T= | CA1217946715 | ASPM | c.510A= (p.Ser170=) n.727A= | |
| 1 | g.197143743G>A | CA344020447 | ASPM | c.509C>T (p.Ser170Leu) n.726C>T | |
| 1 | g.197143743G>C | CA344020449 | ASPM | c.509C>G (p.Ser170Ter) n.726C>G | |
| 1 | g.197143743G>T | CA344020450 | ASPM | c.509C>A (p.Ser170Ter) n.726C>A | |
| 1 | g.197143744A>C | CA344020457 | ASPM | c.508T>G (p.Ser170Ala) n.725T>G | |
| 1 | g.197143744A>G | CA344020455 | ASPM | c.508T>C (p.Ser170Pro) n.725T>C | |
| 1 | g.197143744A>T | CA344020453 | ASPM | c.508T>A (p.Ser170Thr) n.725T>A | |
| 1 | g.197143745A= | CA1217946716 | ASPM | c.507T= (p.Val169=) n.724T= | |
| 1 | g.197143745A>C | CA422804690 | ASPM | c.507T>G (p.Val169=) n.724T>G | |
| 1 | g.197143745A>G | CA422804691 | ASPM | c.507T>C (p.Val169=) n.724T>C | |
| 1 | g.197143745A>T | CA422804692 | ASPM | c.507T>A (p.Val169=) n.724T>A | |
| 1 | g.197143745_197143746insGAAAATAAAAT | CA528535246 | ASPM | c.506_507insATTTTATTTTC (p.Ser170PhefsTer?) n.723_724insATTTTATTTTC c.506_507insATTTTATTTTC (p.Ser170PhefsTer33) | dbSNP gnomAD v2 |
| 1 | g.197143745_197143746insGAAAATAAAATACCCATATC | CA1217946717 | ASPM | c.506_507insGATATGGGTATTTTATTTTC (p.Ser170IlefsTer?) n.723_724insGATATGGGTATTTTATTTTC c.506_507insGATATGGGTATTTTATTTTC (p.Ser170IlefsTer36) | dbSNP |
| 1 | g.197143746A>C | CA344020460 | ASPM | c.506T>G (p.Val169Gly) n.723T>G | |
| 1 | g.197143746A>G | CA344020462 | ASPM | c.506T>C (p.Val169Ala) n.723T>C | |
| 1 | g.197143746A>T | CA344020464 | ASPM | c.506T>A (p.Val169Asp) n.723T>A | |
| 1 | g.197143747C>A | CA344020467 | ASPM | c.505G>T (p.Val169Phe) n.722G>T | gnomAD v4 |
| 1 | g.197143747C= | CA1217946718 | ASPM | c.505G= (p.Val169=) n.722G= | |
| 1 | g.197143747C>G | CA344020469 | ASPM | c.505G>C (p.Val169Leu) n.722G>C | gnomAD v4 |
| 1 | g.197143747C>T | CA344020471 | ASPM | c.505G>A (p.Val169Ile) n.722G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.197143748C>A | CA344020473 | ASPM | c.504G>T (p.Arg168Ser) n.721G>T | |
| 1 | g.197143748C= | CA1217946719 | ASPM | c.504G= (p.Arg168=) n.721G= | |
| 1 | g.197143748C>G | CA344020475 | ASPM | c.504G>C (p.Arg168Ser) n.721G>C | |
| 1 | g.197143748C>T | CA1310860 | ASPM | c.504G>A (p.Arg168=) n.721G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143749C>A | CA344020477 | ASPM | c.503G>T (p.Arg168Met) n.720G>T | |
| 1 | g.197143749C>G | CA344020479 | ASPM | c.503G>C (p.Arg168Thr) n.720G>C | |
| 1 | g.197143749C>T | CA344020481 | ASPM | c.503G>A (p.Arg168Lys) n.720G>A | gnomAD v4 |
| 1 | g.197143750T>A | CA344020487 | ASPM | c.502A>T (p.Arg168Trp) n.719A>T | |
| 1 | g.197143750T>C | CA344020485 | ASPM | c.502A>G (p.Arg168Gly) n.719A>G | |
| 1 | g.197143750T>G | CA1310861 | ASPM | c.502A>C (p.Arg168=) n.719A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143750T= | CA1142183845 | ASPM | c.502A= (p.Arg168=) n.719A= | |
| 1 | g.197143751T>A | CA344020490 | ASPM | c.501A>T (p.Arg167Ser) n.718A>T | |
| 1 | g.197143751T>C | CA422804696 | ASPM | c.501A>G (p.Arg167=) n.718A>G | dbSNP |
| 1 | g.197143751T>G | CA344020492 | ASPM | c.501A>C (p.Arg167Ser) n.718A>C | |
| 1 | g.197143751T= | CA1217946720 | ASPM | c.501A= (p.Arg167=) n.718A= | |
| 1 | g.197143752C>A | CA344020494 | ASPM | c.500G>T (p.Arg167Ile) n.717G>T | |
| 1 | g.197143752C>G | CA344020499 | ASPM | c.500G>C (p.Arg167Thr) n.717G>C | gnomAD v4 |
| 1 | g.197143752C>T | CA344020496 | ASPM | c.500G>A (p.Arg167Lys) n.717G>A | gnomAD v4 |
| 1 | g.197143753T>A | CA344020501 | ASPM | c.499A>T (p.Arg167Ter) n.716A>T | |
| 1 | g.197143753T>C | CA344020503 | ASPM | c.499A>G (p.Arg167Gly) n.716A>G | COSMIC |
| 1 | g.197143753T>G | CA422804698 | ASPM | c.499A>C (p.Arg167=) n.716A>C | |
| 1 | g.197143754G>A | CA1310862 | ASPM | c.498C>T (p.Asn166=) n.715C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143754G>C | CA344020507 | ASPM | c.498C>G (p.Asn166Lys) n.715C>G | |
| 1 | g.197143754G= | CA1217946721 | ASPM | c.498C= (p.Asn166=) n.715C= | |
| 1 | g.197143754G>T | CA344020508 | ASPM | c.498C>A (p.Asn166Lys) n.715C>A | gnomAD v4 |
| 1 | g.197143755T>A | CA344020511 | ASPM | c.497A>T (p.Asn166Ile) n.714A>T | |
| 1 | g.197143755T>C | CA1310863 | ASPM | c.497A>G (p.Asn166Ser) n.714A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143755T>G | CA344020515 | ASPM | c.497A>C (p.Asn166Thr) n.714A>C | |
| 1 | g.197143755T= | CA1143357533 | ASPM | c.497A= (p.Asn166=) n.714A= | |
| 1 | g.197143756T>A | CA344020517 | ASPM | c.496A>T (p.Asn166Tyr) n.713A>T | gnomAD v4 |
| 1 | g.197143756T>C | CA344020519 | ASPM | c.496A>G (p.Asn166Asp) n.713A>G | |
| 1 | g.197143756T>G | CA344020521 | ASPM | c.496A>C (p.Asn166His) n.713A>C | |
| 1 | g.197143757G>A | CA422804702 | ASPM | c.495C>T (p.His165=) n.712C>T | gnomAD v4 |
| 1 | g.197143757G>C | CA344020523 | ASPM | c.495C>G (p.His165Gln) n.712C>G | |
| 1 | g.197143757G>T | CA344020525 | ASPM | c.495C>A (p.His165Gln) n.712C>A | gnomAD v4 |
| 1 | g.197143758T>A | CA344020528 | ASPM | c.494A>T (p.His165Leu) n.711A>T | |
| 1 | g.197143758T>C | CA344020531 | ASPM | c.494A>G (p.His165Arg) n.711A>G | gnomAD v4 |
| 1 | g.197143758T>G | CA344020530 | ASPM | c.494A>C (p.His165Pro) n.711A>C | |
| 1 | g.197143759G>A | CA344020535 | ASPM | c.493C>T (p.His165Tyr) n.710C>T | |
| 1 | g.197143759G>C | CA344020536 | ASPM | c.493C>G (p.His165Asp) n.710C>G | |
| 1 | g.197143759G>T | CA344020538 | ASPM | c.493C>A (p.His165Asn) n.710C>A | |
| 1 | g.197143760A>C | CA344020540 | ASPM | c.492T>G (p.Ser164Arg) n.709T>G | |
| 1 | g.197143760A>G | CA422804706 | ASPM | c.492T>C (p.Ser164=) n.709T>C | |
| 1 | g.197143760A>T | CA344020543 | ASPM | c.492T>A (p.Ser164Arg) n.709T>A | |
| 1 | g.197143761C>A | CA1310864 | ASPM | c.491G>T (p.Ser164Ile) n.708G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143761C= | CA1148731997 | ASPM | c.491G= (p.Ser164=) n.708G= | |
| 1 | g.197143761C>G | CA344020547 | ASPM | c.491G>C (p.Ser164Thr) n.708G>C | |
| 1 | g.197143761C>T | CA344020550 | ASPM | c.491G>A (p.Ser164Asn) n.708G>A | |
| 1 | g.197143762T>A | CA344020551 | ASPM | c.490A>T (p.Ser164Cys) n.707A>T | gnomAD v4 |
| 1 | g.197143762T>C | CA344020553 | ASPM | c.490A>G (p.Ser164Gly) n.707A>G | |
| 1 | g.197143762T>G | CA344020555 | ASPM | c.490A>C (p.Ser164Arg) n.707A>C | |
| 1 | g.197143763T>A | CA422804709 | ASPM | c.489A>T (p.Thr163=) n.706A>T | |
| 1 | g.197143763T>C | CA1310865 | ASPM | c.489A>G (p.Thr163=) n.706A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143763T>G | CA422804710 | ASPM | c.489A>C (p.Thr163=) n.706A>C | |
| 1 | g.197143763T= | CA1143857735 | ASPM | c.489A= (p.Thr163=) n.706A= | |
| 1 | g.197143764G>A | CA1310866 | ASPM | c.488C>T (p.Thr163Ile) n.705C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143764G>C | CA344020559 | ASPM | c.488C>G (p.Thr163Arg) n.705C>G | |
| 1 | g.197143764G= | CA1217946722 | ASPM | c.488C= (p.Thr163=) n.705C= | |
| 1 | g.197143764G>T | CA344020560 | ASPM | c.488C>A (p.Thr163Lys) n.705C>A | |
| 1 | g.197143765T>A | CA344020564 | ASPM | c.487A>T (p.Thr163Ser) n.704A>T | dbSNP gnomAD v4 |
| 1 | g.197143765T>C | CA344020566 | ASPM | c.487A>G (p.Thr163Ala) n.704A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143765T>G | CA344020568 | ASPM | c.487A>C (p.Thr163Pro) n.704A>C | |
| 1 | g.197143765T= | CA1217946723 | ASPM | c.487A= (p.Thr163=) n.704A= | |
| 1 | g.197143766A>C | CA422804714 | ASPM | c.486T>G (p.Ser162=) n.703T>G | |
| 1 | g.197143766A>G | CA422804713 | ASPM | c.486T>C (p.Ser162=) n.703T>C | |
| 1 | g.197143766A>T | CA422804712 | ASPM | c.486T>A (p.Ser162=) n.703T>A | gnomAD v4 |
| 1 | g.197143767G>A | CA344020574 | ASPM | c.485C>T (p.Ser162Phe) n.702C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143767G>C | CA344020572 | ASPM | c.485C>G (p.Ser162Cys) n.702C>G | |
| 1 | g.197143767G= | CA1217946724 | ASPM | c.485C= (p.Ser162=) n.702C= | |
| 1 | g.197143767G>T | CA344020571 | ASPM | c.485C>A (p.Ser162Tyr) n.702C>A | |
| 1 | g.197143768A= | CA1148247625 | ASPM | c.484T= (p.Ser162=) n.701T= | |
| 1 | g.197143768A>C | CA1310867 | ASPM | c.484T>G (p.Ser162Ala) n.701T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143768A>G | CA344020575 | ASPM | c.484T>C (p.Ser162Pro) n.701T>C | |
| 1 | g.197143768A>T | CA344020577 | ASPM | c.484T>A (p.Ser162Thr) n.701T>A | |
| 1 | g.197143769G>A | CA422804716 | ASPM | c.483C>T (p.Ala161=) n.700C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143769G>C | CA422804718 | ASPM | c.483C>G (p.Ala161=) n.700C>G | |
| 1 | g.197143769G= | CA1217946725 | ASPM | c.483C= (p.Ala161=) n.700C= | |
| 1 | g.197143769G>T | CA422804717 | ASPM | c.483C>A (p.Ala161=) n.700C>A | |
| 1 | g.197143770G>A | CA344020578 | ASPM | c.482C>T (p.Ala161Val) n.699C>T | |
| 1 | g.197143770G>C | CA344020579 | ASPM | c.482C>G (p.Ala161Gly) n.699C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197143770G= | CA1217946726 | ASPM | c.482C= (p.Ala161=) n.699C= | |
| 1 | g.197143770G>T | CA344020580 | ASPM | c.482C>A (p.Ala161Asp) n.699C>A | |
| 1 | g.197143771C>A | CA344020583 | ASPM | c.481G>T (p.Ala161Ser) n.698G>T | |
| 1 | g.197143771C>G | CA344020586 | ASPM | c.481G>C (p.Ala161Pro) n.698G>C | |
| 1 | g.197143771C>T | CA344020585 | ASPM | c.481G>A (p.Ala161Thr) n.698G>A | |
| 1 | g.197143772T>A | CA422804720 | ASPM | c.480A>T (p.Ser160=) n.697A>T | |
| 1 | g.197143772T>C | CA422804721 | ASPM | c.480A>G (p.Ser160=) n.697A>G | gnomAD v4 |
| 1 | g.197143772T>G | CA422804722 | ASPM | c.480A>C (p.Ser160=) n.697A>C | |
| 1 | g.197143773G>A | CA344020590 | ASPM | c.479C>T (p.Ser160Leu) n.696C>T | gnomAD v4 |
| 1 | g.197143773G>C | CA344020592 | ASPM | c.479C>G (p.Ser160Ter) n.696C>G | |
| 1 | g.197143773G>T | CA344020594 | ASPM | c.479C>A (p.Ser160Ter) n.696C>A | gnomAD v4 |
| 1 | g.197143774A>C | CA344020596 | ASPM | c.478T>G (p.Ser160Ala) n.695T>G | |
| 1 | g.197143774A>G | CA344020599 | ASPM | c.478T>C (p.Ser160Pro) n.695T>C | gnomAD v4 |
| 1 | g.197143774A>T | CA344020600 | ASPM | c.478T>A (p.Ser160Thr) n.695T>A | |
| 1 | g.197143775A>C | CA344020601 | ASPM | c.477T>G (p.Ile159Met) n.694T>G | |
| 1 | g.197143775A>G | CA422804726 | ASPM | c.477T>C (p.Ile159=) n.694T>C | |
| 1 | g.197143775A>T | CA422804727 | ASPM | c.477T>A (p.Ile159=) n.694T>A | |
| 1 | g.197143776A>C | CA344020605 | ASPM | c.476T>G (p.Ile159Ser) n.693T>G | |
| 1 | g.197143776A>G | CA344020607 | ASPM | c.476T>C (p.Ile159Thr) n.693T>C | |
| 1 | g.197143776A>T | CA344020609 | ASPM | c.476T>A (p.Ile159Asn) n.693T>A |