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.197143952A= | CA1217946789 | ASPM | c.441+5T= (n.441+5T=) n.658+5T= | |
| 1 | g.197143952A>C | CA528535241 | ASPM | c.441+5T>G (n.441+5T>G) n.658+5T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143952A>T | CA1217946790 | ASPM | c.441+5T>A (n.441+5T>A) n.658+5T>A | dbSNP |
| 1 | g.197143953T>C | CA1310883 | ASPM | c.441+4A>G (n.441+4A>G) n.658+4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143953T= | CA1217946791 | ASPM | c.441+4A= (n.441+4A=) n.658+4A= | |
| 1 | g.197143954dup | CA2649664369 | ASPM | c.441+4dup (n.441+4dup) n.658+4dup | gnomAD v4 |
| 1 | g.197143954del | CA2649664370 | ASPM | c.441+4del (n.441+4del) n.658+4del | gnomAD v4 |
| 1 | g.197143955del | CA2747232282 | ASPM | c.441+2del (n.441+2del) n.658+2del | |
| 1 | g.197143955A>C | CA344020833 | ASPM | c.441+2T>G (n.441+2T>G) n.658+2T>G | |
| 1 | g.197143955A>G | CA344020835 | ASPM | c.441+2T>C (n.441+2T>C) n.658+2T>C | |
| 1 | g.197143955A>T | CA344020837 | ASPM | c.441+2T>A (n.441+2T>A) n.658+2T>A | |
| 1 | g.197143956C>A | CA344020840 | ASPM | c.441+1G>T (n.441+1G>T) n.658+1G>T | |
| 1 | g.197143956C= | CA1217946792 | ASPM | c.441+1G= (n.441+1G=) n.658+1G= | |
| 1 | g.197143956C>G | CA344020842 | ASPM | c.441+1G>C (n.441+1G>C) n.658+1G>C | |
| 1 | g.197143956C>T | CA1310884 | ASPM | c.441+1G>A (n.441+1G>A) n.658+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143957C>A | CA344020845 | ASPM | c.441G>T (p.Lys147Asn) n.658G>T | |
| 1 | g.197143957C>G | CA344020847 | ASPM | c.441G>C (p.Lys147Asn) n.658G>C | |
| 1 | g.197143957C>T | CA422804269 | ASPM | c.441G>A (p.Lys147=) n.658G>A | |
| 1 | g.197143957_197143958delinsCT | CA1217946793 | ASPM | c.440_441delinsAG (p.Lys147=) n.657_658delinsAG | |
| 1 | g.197143965_197143970del | CA2549185048 | ASPM | c.436_441del (p.Lys146_Lys147del) n.653_658del | |
| 1 | g.197143958T>A | CA344020853 | ASPM | c.440A>T (p.Lys147Met) n.657A>T | dbSNP gnomAD v2 |
| 1 | g.197143958T>C | CA344020856 | ASPM | c.440A>G (p.Lys147Arg) n.657A>G | dbSNP |
| 1 | g.197143958T>G | CA344020851 | ASPM | c.440A>C (p.Lys147Thr) n.657A>C | |
| 1 | g.197143958T= | CA1217946794 | ASPM | c.440A= (p.Lys147=) n.657A= | |
| 1 | g.197143958_197143962delinsTTTTT | CA1143355895 | ASPM | c.436_440delinsAAAAA (p.Lys146=) n.653_657delinsAAAAA | |
| 1 | g.197143962del | CA342254 | ASPM | c.440del (p.Lys147ArgfsTer?) n.657del | ClinVar dbSNP gnomAD v4 |
| 1 | g.197143959T>A | CA344020859 | ASPM | c.439A>T (p.Lys147Ter) n.656A>T | |
| 1 | g.197143959T>C | CA344020861 | ASPM | c.439A>G (p.Lys147Glu) n.656A>G | gnomAD v4 |
| 1 | g.197143959T>G | CA344020863 | ASPM | c.439A>C (p.Lys147Gln) n.656A>C | |
| 1 | g.197143960T>A | CA344020866 | ASPM | c.438A>T (p.Lys146Asn) n.655A>T | |
| 1 | g.197143960T>C | CA422804272 | ASPM | c.438A>G (p.Lys146=) n.655A>G | |
| 1 | g.197143960T>G | CA344020867 | ASPM | c.438A>C (p.Lys146Asn) n.655A>C | |
| 1 | g.197143961T>A | CA344020875 | ASPM | c.437A>T (p.Lys146Ile) n.654A>T | |
| 1 | g.197143961T>C | CA344020869 | ASPM | c.437A>G (p.Lys146Arg) n.654A>G | |
| 1 | g.197143961T>G | CA344020872 | ASPM | c.437A>C (p.Lys146Thr) n.654A>C | |
| 1 | g.197143962T>A | CA344020877 | ASPM | c.436A>T (p.Lys146Ter) n.653A>T | |
| 1 | g.197143962T>C | CA344020879 | ASPM | c.436A>G (p.Lys146Glu) n.653A>G | gnomAD v4 |
| 1 | g.197143962T>G | CA344020881 | ASPM | c.436A>C (p.Lys146Gln) n.653A>C | |
| 1 | g.197143963C>A | CA344020883 | ASPM | c.435G>T (p.Lys145Asn) n.652G>T | |
| 1 | g.197143963C= | CA1217946795 | ASPM | c.435G= (p.Lys145=) n.652G= | |
| 1 | g.197143963C>G | CA344020884 | ASPM | c.435G>C (p.Lys145Asn) n.652G>C | |
| 1 | g.197143963C>T | CA422804276 | ASPM | c.435G>A (p.Lys145=) n.652G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143964T>A | CA344020887 | ASPM | c.434A>T (p.Lys145Met) n.651A>T | |
| 1 | g.197143964T>C | CA344020890 | ASPM | c.434A>G (p.Lys145Arg) n.651A>G | |
| 1 | g.197143964T>G | CA344020889 | ASPM | c.434A>C (p.Lys145Thr) n.651A>C | |
| 1 | g.197143968del | CA2573051456 | ASPM | c.434del (p.Lys145ArgfsTer?) n.651del | ClinVar dbSNP gnomAD v4 |
| 1 | g.197143965T>A | CA344020893 | ASPM | c.433A>T (p.Lys145Ter) n.650A>T | |
| 1 | g.197143965T>C | CA344020897 | ASPM | c.433A>G (p.Lys145Glu) n.650A>G | |
| 1 | g.197143965T>G | CA344020895 | ASPM | c.433A>C (p.Lys145Gln) n.650A>C | gnomAD v4 |
| 1 | g.197143966T>A | CA344020899 | ASPM | c.432A>T (p.Lys144Asn) n.649A>T | |
| 1 | g.197143966T>C | CA422804286 | ASPM | c.432A>G (p.Lys144=) n.649A>G | |
| 1 | g.197143966T>G | CA344020901 | ASPM | c.432A>C (p.Lys144Asn) n.649A>C | |
| 1 | g.197143967T>A | CA1310885 | ASPM | c.431A>T (p.Lys144Ile) n.648A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143967T>C | CA344020905 | ASPM | c.431A>G (p.Lys144Arg) n.648A>G | |
| 1 | g.197143967T>G | CA344020908 | ASPM | c.431A>C (p.Lys144Thr) n.648A>C | |
| 1 | g.197143967T= | CA1149064130 | ASPM | c.431A= (p.Lys144=) n.648A= | |
| 1 | g.197143968T>A | CA1310886 | ASPM | c.430A>T (p.Lys144Ter) n.647A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143968T>C | CA344020911 | ASPM | c.430A>G (p.Lys144Glu) n.647A>G | |
| 1 | g.197143968T>G | CA344020914 | ASPM | c.430A>C (p.Lys144Gln) n.647A>C | |
| 1 | g.197143968T= | CA1217946796 | ASPM | c.430A= (p.Lys144=) n.647A= | |
| 1 | g.197143969C>A | CA344020919 | ASPM | c.429G>T (p.Gln143His) n.646G>T | |
| 1 | g.197143969C= | CA1217946797 | ASPM | c.429G= (p.Gln143=) n.646G= | |
| 1 | g.197143969C>G | CA344020920 | ASPM | c.429G>C (p.Gln143His) n.646G>C | |
| 1 | g.197143969C>T | CA422804297 | ASPM | c.429G>A (p.Gln143=) n.646G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143970T>A | CA344020923 | ASPM | c.428A>T (p.Gln143Leu) n.645A>T | |
| 1 | g.197143970T>C | CA344020922 | ASPM | c.428A>G (p.Gln143Arg) n.645A>G | |
| 1 | g.197143970T>G | CA344020921 | ASPM | c.428A>C (p.Gln143Pro) n.645A>C | |
| 1 | g.197143971G>A | CA344020924 | ASPM | c.427C>T (p.Gln143Ter) n.644C>T | gnomAD v4 COSMIC |
| 1 | g.197143971G>C | CA344020925 | ASPM | c.427C>G (p.Gln143Glu) n.644C>G | |
| 1 | g.197143971G= | CA1217946798 | ASPM | c.427C= (p.Gln143=) n.644C= | |
| 1 | g.197143971G>T | CA344020926 | ASPM | c.427C>A (p.Gln143Lys) n.644C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143972C>A | CA344020927 | ASPM | c.426G>T (p.Glu142Asp) n.643G>T | |
| 1 | g.197143972C= | CA1217946799 | ASPM | c.426G= (p.Glu142=) n.643G= | |
| 1 | g.197143972C>G | CA344020929 | ASPM | c.426G>C (p.Glu142Asp) n.643G>C | |
| 1 | g.197143972C>T | CA1310887 | ASPM | c.426G>A (p.Glu142=) n.643G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143973T>A | CA344020933 | ASPM | c.425A>T (p.Glu142Val) n.642A>T | |
| 1 | g.197143973T>C | CA344020935 | ASPM | c.425A>G (p.Glu142Gly) n.642A>G | |
| 1 | g.197143973T>G | CA344020936 | ASPM | c.425A>C (p.Glu142Ala) n.642A>C | |
| 1 | g.197143973_197143974insTTTTTTTTTTT | CA2747232288 | ASPM | c.425_426insAAAAAAAAAAA (p.Gln143LysfsTer?) n.642_643insAAAAAAAAAAA | |
| 1 | g.197143974C>A | CA344020940 | ASPM | c.424G>T (p.Glu142Ter) n.641G>T | |
| 1 | g.197143974C>G | CA344020941 | ASPM | c.424G>C (p.Glu142Gln) n.641G>C | |
| 1 | g.197143974C>T | CA344020942 | ASPM | c.424G>A (p.Glu142Lys) n.641G>A | gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197143975T>A | CA344020944 | ASPM | c.423A>T (p.Glu141Asp) n.640A>T | |
| 1 | g.197143975T>C | CA422804313 | ASPM | c.423A>G (p.Glu141=) n.640A>G | |
| 1 | g.197143975T>G | CA344020943 | ASPM | c.423A>C (p.Glu141Asp) n.640A>C | |
| 1 | g.197143976T>A | CA344020946 | ASPM | c.422A>T (p.Glu141Val) n.639A>T | |
| 1 | g.197143976T>C | CA344020948 | ASPM | c.422A>G (p.Glu141Gly) n.639A>G | |
| 1 | g.197143976T>G | CA344020950 | ASPM | c.422A>C (p.Glu141Ala) n.639A>C | |
| 1 | g.197143977C>A | CA344020952 | ASPM | c.421G>T (p.Glu141Ter) n.638G>T | |
| 1 | g.197143977C>G | CA344020954 | ASPM | c.421G>C (p.Glu141Gln) n.638G>C | |
| 1 | g.197143977C>T | CA344020955 | ASPM | c.421G>A (p.Glu141Lys) n.638G>A | gnomAD v4 |
| 1 | g.197143978T>A | CA422804321 | ASPM | c.420A>T (p.Ala140=) n.637A>T | |
| 1 | g.197143978T>C | CA422804324 | ASPM | c.420A>G (p.Ala140=) n.637A>G | dbSNP |
| 1 | g.197143978T>G | CA422804328 | ASPM | c.420A>C (p.Ala140=) n.637A>C | ClinVar dbSNP |
| 1 | g.197143978T= | CA1217946800 | ASPM | c.420A= (p.Ala140=) n.637A= | |
| 1 | g.197143979G>A | CA344020961 | ASPM | c.419C>T (p.Ala140Val) n.636C>T | |
| 1 | g.197143979G>C | CA344020958 | ASPM | c.419C>G (p.Ala140Gly) n.636C>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143979G= | CA1217946801 | ASPM | c.419C= (p.Ala140=) n.636C= | |
| 1 | g.197143979G>T | CA344020960 | ASPM | c.419C>A (p.Ala140Glu) n.636C>A | gnomAD v3 gnomAD v4 |
| 1 | g.197143980C>A | CA344020964 | ASPM | c.418G>T (p.Ala140Ser) n.635G>T | |
| 1 | g.197143980C= | CA1146769196 | ASPM | c.418G= (p.Ala140=) n.635G= | |
| 1 | g.197143980C>G | CA344020966 | ASPM | c.418G>C (p.Ala140Pro) n.635G>C | |
| 1 | g.197143980C>T | CA1310888 | ASPM | c.418G>A (p.Ala140Thr) n.635G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143981A= | CA1217946802 | ASPM | c.417T= (p.Asn139=) n.634T= | |
| 1 | g.197143981A>C | CA344020970 | ASPM | c.417T>G (p.Asn139Lys) n.634T>G | |
| 1 | g.197143981A>G | CA422804338 | ASPM | c.417T>C (p.Asn139=) n.634T>C | dbSNP gnomAD v4 |
| 1 | g.197143981A>T | CA1310889 | ASPM | c.417T>A (p.Asn139Lys) n.634T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197143982T>A | CA344020972 | ASPM | c.416A>T (p.Asn139Ile) n.633A>T | |
| 1 | g.197143982T>C | CA344020976 | ASPM | c.416A>G (p.Asn139Ser) n.633A>G | |
| 1 | g.197143982T>G | CA344020974 | ASPM | c.416A>C (p.Asn139Thr) n.633A>C | |
| 1 | g.197143983T>A | CA344020977 | ASPM | c.415A>T (p.Asn139Tyr) n.632A>T | |
| 1 | g.197143983T>C | CA344020979 | ASPM | c.415A>G (p.Asn139Asp) n.632A>G | |
| 1 | g.197143983T>G | CA344020981 | ASPM | c.415A>C (p.Asn139His) n.632A>C | COSMIC |
| 1 | g.197143984T>A | CA422804350 | ASPM | c.414A>T (p.Gly138=) n.631A>T | |
| 1 | g.197143984T>C | CA422804351 | ASPM | c.414A>G (p.Gly138=) n.631A>G | gnomAD v4 |
| 1 | g.197143984T>G | CA422804354 | ASPM | c.414A>C (p.Gly138=) n.631A>C | |
| 1 | g.197143985C>A | CA344020983 | ASPM | c.413G>T (p.Gly138Val) n.630G>T | |
| 1 | g.197143985C>G | CA344020984 | ASPM | c.413G>C (p.Gly138Ala) n.630G>C | |
| 1 | g.197143985C>T | CA344020985 | ASPM | c.413G>A (p.Gly138Glu) n.630G>A | COSMIC |
| 1 | g.197143986C>A | CA344020989 | ASPM | c.412G>T (p.Gly138Ter) n.629G>T | |
| 1 | g.197143986C>G | CA344020991 | ASPM | c.412G>C (p.Gly138Arg) n.629G>C | |
| 1 | g.197143986C>T | CA344020994 | ASPM | c.412G>A (p.Gly138Arg) n.629G>A | |
| 1 | g.197143987T>A | CA422804359 | ASPM | c.411A>T (p.Leu137=) n.628A>T | |
| 1 | g.197143987T>C | CA422804360 | ASPM | c.411A>G (p.Leu137=) n.628A>G | |
| 1 | g.197143987T>G | CA422804362 | ASPM | c.411A>C (p.Leu137=) n.628A>C | |
| 1 | g.197143988A>C | CA344020996 | ASPM | c.410T>G (p.Leu137Arg) n.627T>G | |
| 1 | g.197143988A>G | CA344020998 | ASPM | c.410T>C (p.Leu137Pro) n.627T>C | |
| 1 | g.197143988A>T | CA344021000 | ASPM | c.410T>A (p.Leu137Gln) n.627T>A | |
| 1 | g.197143989G>A | CA422804366 | ASPM | c.409C>T (p.Leu137=) n.626C>T | |
| 1 | g.197143989G>C | CA344021004 | ASPM | c.409C>G (p.Leu137Val) n.626C>G | dbSNP gnomAD v4 |
| 1 | g.197143989G= | CA1217946803 | ASPM | c.409C= (p.Leu137=) n.626C= | |
| 1 | g.197143989G>T | CA344021002 | ASPM | c.409C>A (p.Leu137Ile) n.626C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143990T>A | CA344021007 | ASPM | c.408A>T (p.Leu136Phe) n.625A>T | |
| 1 | g.197143990T>C | CA422804374 | ASPM | c.408A>G (p.Leu136=) n.625A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197143990T>G | CA344021009 | ASPM | c.408A>C (p.Leu136Phe) n.625A>C | |
| 1 | g.197143990T= | CA1217946804 | ASPM | c.408A= (p.Leu136=) n.625A= | |
| 1 | g.197143991A>C | CA344021012 | ASPM | c.407T>G (p.Leu136Ter) n.624T>G | |
| 1 | g.197143991A>G | CA344021016 | ASPM | c.407T>C (p.Leu136Ser) n.624T>C | |
| 1 | g.197143991A>T | CA344021014 | ASPM | c.407T>A (p.Leu136Ter) n.624T>A | |
| 1 | g.197143992A= | CA1217946805 | ASPM | c.406T= (p.Leu136=) n.623T= | |
| 1 | g.197143992A>C | CA344021019 | ASPM | c.406T>G (p.Leu136Val) n.623T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143992A>G | CA422804379 | ASPM | c.406T>C (p.Leu136=) n.623T>C | |
| 1 | g.197143992A>T | CA344021021 | ASPM | c.406T>A (p.Leu136Ile) n.623T>A | |
| 1 | g.197143993T>A | CA422804387 | ASPM | c.405A>T (p.Ile135=) n.622A>T | |
| 1 | g.197143993T>C | CA344021024 | ASPM | c.405A>G (p.Ile135Met) n.622A>G | dbSNP gnomAD v4 |
| 1 | g.197143993T>G | CA422804383 | ASPM | c.405A>C (p.Ile135=) n.622A>C | |
| 1 | g.197143993T= | CA1217946806 | ASPM | c.405A= (p.Ile135=) n.622A= | |
| 1 | g.197143994A>C | CA344021027 | ASPM | c.404T>G (p.Ile135Arg) n.621T>G | |
| 1 | g.197143994A>G | CA344021028 | ASPM | c.404T>C (p.Ile135Thr) n.621T>C | |
| 1 | g.197143994A>T | CA344021030 | ASPM | c.404T>A (p.Ile135Lys) n.621T>A | |
| 1 | g.197143995T>A | CA344021033 | ASPM | c.403A>T (p.Ile135Leu) n.620A>T | gnomAD v4 |
| 1 | g.197143995T>C | CA344021034 | ASPM | c.403A>G (p.Ile135Val) n.620A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143995T>G | CA344021037 | ASPM | c.403A>C (p.Ile135Leu) n.620A>C | |
| 1 | g.197143995T= | CA1217946807 | ASPM | c.403A= (p.Ile135=) n.620A= | |
| 1 | g.197143996A= | CA1217946808 | ASPM | c.402T= (p.Ala134=) n.619T= | |
| 1 | g.197143996A>C | CA422804396 | ASPM | c.402T>G (p.Ala134=) n.619T>G | |
| 1 | g.197143996A>G | CA422804394 | ASPM | c.402T>C (p.Ala134=) n.619T>C | dbSNP |
| 1 | g.197143996A>T | CA422804393 | ASPM | c.402T>A (p.Ala134=) n.619T>A | |
| 1 | g.197143997G>A | CA344021039 | ASPM | c.401C>T (p.Ala134Val) n.618C>T | |
| 1 | g.197143997G>C | CA344021042 | ASPM | c.401C>G (p.Ala134Gly) n.618C>G | |
| 1 | g.197143997G>T | CA344021045 | ASPM | c.401C>A (p.Ala134Asp) n.618C>A | |
| 1 | g.197143998C>A | CA344021048 | ASPM | c.400G>T (p.Ala134Ser) n.617G>T | |
| 1 | g.197143998C= | CA1217946809 | ASPM | c.400G= (p.Ala134=) n.617G= | |
| 1 | g.197143998C>G | CA344021052 | ASPM | c.400G>C (p.Ala134Pro) n.617G>C | |
| 1 | g.197143998C>T | CA344021050 | ASPM | c.400G>A (p.Ala134Thr) n.617G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197143999T>A | CA344021053 | ASPM | c.399A>T (p.Gln133His) n.616A>T | |
| 1 | g.197143999T>C | CA422804404 | ASPM | c.399A>G (p.Gln133=) n.616A>G | |
| 1 | g.197143999T>G | CA344021055 | ASPM | c.399A>C (p.Gln133His) n.616A>C | |
| 1 | g.197144000T>A | CA344021059 | ASPM | c.398A>T (p.Gln133Leu) n.615A>T | |
| 1 | g.197144000T>C | CA344021060 | ASPM | c.398A>G (p.Gln133Arg) n.615A>G | COSMIC |
| 1 | g.197144000T>G | CA344021062 | ASPM | c.398A>C (p.Gln133Pro) n.615A>C | |
| 1 | g.197144001G>A | CA344021065 | ASPM | c.397C>T (p.Gln133Ter) n.614C>T | COSMIC |
| 1 | g.197144001G>C | CA1310890 | ASPM | c.397C>G (p.Gln133Glu) n.614C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197144001G= | CA1217946810 | ASPM | c.397C= (p.Gln133=) n.614C= | |
| 1 | g.197144001G>T | CA344021067 | ASPM | c.397C>A (p.Gln133Lys) n.614C>A | |
| 1 | g.197144002G>A | CA422804412 | ASPM | c.396C>T (p.His132=) n.613C>T | dbSNP gnomAD v4 |
| 1 | g.197144002G>C | CA1310891 | ASPM | c.396C>G (p.His132Gln) n.613C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144002G= | CA1217946811 | ASPM | c.396C= (p.His132=) n.613C= | |
| 1 | g.197144002G>T | CA344021070 | ASPM | c.396C>A (p.His132Gln) n.613C>A | |
| 1 | g.197144003T>A | CA344021075 | ASPM | c.395A>T (p.His132Leu) n.612A>T | |
| 1 | g.197144003T>C | CA344021077 | ASPM | c.395A>G (p.His132Arg) n.612A>G | |
| 1 | g.197144003T>G | CA344021074 | ASPM | c.395A>C (p.His132Pro) n.612A>C | |
| 1 | g.197144004G>A | CA344021081 | ASPM | c.394C>T (p.His132Tyr) n.611C>T | gnomAD v4 |
| 1 | g.197144004G>C | CA344021082 | ASPM | c.394C>G (p.His132Asp) n.611C>G | |
| 1 | g.197144004G>T | CA344021085 | ASPM | c.394C>A (p.His132Asn) n.611C>A | |
| 1 | g.197144005T>A | CA344021089 | ASPM | c.393A>T (p.Lys131Asn) n.610A>T | |
| 1 | g.197144005T>C | CA422804417 | ASPM | c.393A>G (p.Lys131=) n.610A>G | |
| 1 | g.197144005T>G | CA344021090 | ASPM | c.393A>C (p.Lys131Asn) n.610A>C | |
| 1 | g.197144006T>A | CA344021092 | ASPM | c.392A>T (p.Lys131Ile) n.609A>T | |
| 1 | g.197144006T>C | CA344021094 | ASPM | c.392A>G (p.Lys131Arg) n.609A>G | |
| 1 | g.197144006T>G | CA344021096 | ASPM | c.392A>C (p.Lys131Thr) n.609A>C | |
| 1 | g.197144007T>A | CA344021098 | ASPM | c.391A>T (p.Lys131Ter) n.608A>T | |
| 1 | g.197144007T>C | CA344021099 | ASPM | c.391A>G (p.Lys131Glu) n.608A>G | |
| 1 | g.197144007T>G | CA344021101 | ASPM | c.391A>C (p.Lys131Gln) n.608A>C | |
| 1 | g.197144008C>A | CA422804428 | ASPM | c.390G>T (p.Leu130=) n.607G>T | |
| 1 | g.197144008C>G | CA422804429 | ASPM | c.390G>C (p.Leu130=) n.607G>C | |
| 1 | g.197144008C>T | CA422804430 | ASPM | c.390G>A (p.Leu130=) n.607G>A | |
| 1 | g.197144009A>C | CA344021103 | ASPM | c.389T>G (p.Leu130Arg) n.606T>G | |
| 1 | g.197144009A>G | CA344021105 | ASPM | c.389T>C (p.Leu130Pro) n.606T>C | |
| 1 | g.197144009A>T | CA344021107 | ASPM | c.389T>A (p.Leu130Gln) n.606T>A | |
| 1 | g.197144010G>A | CA422804434 | ASPM | c.388C>T (p.Leu130=) n.605C>T | |
| 1 | g.197144010G>C | CA344021109 | ASPM | c.388C>G (p.Leu130Val) n.605C>G | |
| 1 | g.197144010G>T | CA344021111 | ASPM | c.388C>A (p.Leu130Met) n.605C>A | |
| 1 | g.197144011A= | CA1217946812 | ASPM | c.387T= (p.Val129=) n.604T= | |
| 1 | g.197144011A>C | CA422804437 | ASPM | c.387T>G (p.Val129=) n.604T>G | |
| 1 | g.197144011A>G | CA422804441 | ASPM | c.387T>C (p.Val129=) n.604T>C | |
| 1 | g.197144011A>T | CA35862072 | ASPM | c.387T>A (p.Val129=) n.604T>A | dbSNP |
| 1 | g.197144012A>C | CA344021114 | ASPM | c.386T>G (p.Val129Gly) n.603T>G | |
| 1 | g.197144012A>G | CA344021116 | ASPM | c.386T>C (p.Val129Ala) n.603T>C | |
| 1 | g.197144012A>T | CA344021118 | ASPM | c.386T>A (p.Val129Asp) n.603T>A | |
| 1 | g.197144013C>A | CA1310892 | ASPM | c.385G>T (p.Val129Phe) n.602G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144013C= | CA1217946813 | ASPM | c.385G= (p.Val129=) n.602G= | |
| 1 | g.197144013C>G | CA344021123 | ASPM | c.385G>C (p.Val129Leu) n.602G>C | |
| 1 | g.197144013C>T | CA1310893 | ASPM | c.385G>A (p.Val129Ile) n.602G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197144014A= | CA1217946814 | ASPM | c.384T= (p.Asp128=) n.601T= | |
| 1 | g.197144014A>C | CA344021126 | ASPM | c.384T>G (p.Asp128Glu) n.601T>G | |
| 1 | g.197144014A>G | CA422804448 | ASPM | c.384T>C (p.Asp128=) n.601T>C | |
| 1 | g.197144014A>T | CA35862079 | ASPM | c.384T>A (p.Asp128Glu) n.601T>A | dbSNP |
| 1 | g.197144015T>A | CA344021129 | ASPM | c.383A>T (p.Asp128Val) n.600A>T | |
| 1 | g.197144015T>C | CA344021132 | ASPM | c.383A>G (p.Asp128Gly) n.600A>G | |
| 1 | g.197144015T>G | CA344021134 | ASPM | c.383A>C (p.Asp128Ala) n.600A>C | |
| 1 | g.197144016C>A | CA344021137 | ASPM | c.382G>T (p.Asp128Tyr) n.599G>T | |
| 1 | g.197144016C>G | CA344021139 | ASPM | c.382G>C (p.Asp128His) n.599G>C | |
| 1 | g.197144016C>T | CA344021141 | ASPM | c.382G>A (p.Asp128Asn) n.599G>A | gnomAD v4 |
| 1 | g.197144017A>C | CA344021143 | ASPM | c.381T>G (p.Asn127Lys) n.598T>G | |
| 1 | g.197144017A>G | CA422804452 | ASPM | c.381T>C (p.Asn127=) n.598T>C | |
| 1 | g.197144017A>T | CA344021145 | ASPM | c.381T>A (p.Asn127Lys) n.598T>A | |
| 1 | g.197144018T>A | CA1310895 | ASPM | c.380A>T (p.Asn127Ile) n.597A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144018T>C | CA1310894 | ASPM | c.380A>G (p.Asn127Ser) n.597A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144018T>G | CA344021149 | ASPM | c.380A>C (p.Asn127Thr) n.597A>C | |
| 1 | g.197144018T= | CA1217946815 | ASPM | c.380A= (p.Asn127=) n.597A= | |
| 1 | g.197144019T>A | CA344021153 | ASPM | c.379A>T (p.Asn127Tyr) n.596A>T | |
| 1 | g.197144019T>C | CA344021156 | ASPM | c.379A>G (p.Asn127Asp) n.596A>G | |
| 1 | g.197144019T>G | CA344021158 | ASPM | c.379A>C (p.Asn127His) n.596A>C | |
| 1 | g.197144020T>A | CA422804457 | ASPM | c.378A>T (p.Val126=) n.595A>T | |
| 1 | g.197144020T>C | CA422804456 | ASPM | c.378A>G (p.Val126=) n.595A>G | |
| 1 | g.197144020T>G | CA422804455 | ASPM | c.378A>C (p.Val126=) n.595A>C | |
| 1 | g.197144021A>C | CA344021161 | ASPM | c.377T>G (p.Val126Gly) n.594T>G | |
| 1 | g.197144021A>G | CA344021163 | ASPM | c.377T>C (p.Val126Ala) n.594T>C | |
| 1 | g.197144021A>T | CA344021165 | ASPM | c.377T>A (p.Val126Glu) n.594T>A | |
| 1 | g.197144022C>A | CA344021168 | ASPM | c.376G>T (p.Val126Leu) n.593G>T | |
| 1 | g.197144022C= | CA1217946816 | ASPM | c.376G= (p.Val126=) n.593G= | |
| 1 | g.197144022C>G | CA344021170 | ASPM | c.376G>C (p.Val126Leu) n.593G>C | |
| 1 | g.197144022C>T | CA1310896 | ASPM | c.376G>A (p.Val126Ile) n.593G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144023A= | CA1217946817 | ASPM | c.375T= (p.Leu125=) n.592T= | |
| 1 | g.197144023A>C | CA422804459 | ASPM | c.375T>G (p.Leu125=) n.592T>G | |
| 1 | g.197144023A>G | CA422804460 | ASPM | c.375T>C (p.Leu125=) n.592T>C | |
| 1 | g.197144023A>T | CA1310897 | ASPM | c.375T>A (p.Leu125=) n.592T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144024A>C | CA344021180 | ASPM | c.374T>G (p.Leu125Arg) n.591T>G | |
| 1 | g.197144024A>G | CA344021178 | ASPM | c.374T>C (p.Leu125Pro) n.591T>C | gnomAD v4 |
| 1 | g.197144024A>T | CA344021176 | ASPM | c.374T>A (p.Leu125His) n.591T>A | |
| 1 | g.197144025G>A | CA344021181 | ASPM | c.373C>T (p.Leu125Phe) n.590C>T | |
| 1 | g.197144025G>C | CA344021182 | ASPM | c.373C>G (p.Leu125Val) n.590C>G | |
| 1 | g.197144025G>T | CA344021184 | ASPM | c.373C>A (p.Leu125Ile) n.590C>A | |
| 1 | g.197144026A>C | CA344021186 | ASPM | c.372T>G (p.Phe124Leu) n.589T>G | |
| 1 | g.197144026A>G | CA422804467 | ASPM | c.372T>C (p.Phe124=) n.589T>C | |
| 1 | g.197144026A>T | CA344021187 | ASPM | c.372T>A (p.Phe124Leu) n.589T>A | |
| 1 | g.197144027A>C | CA344021190 | ASPM | c.371T>G (p.Phe124Cys) n.588T>G | |
| 1 | g.197144027A>G | CA344021191 | ASPM | c.371T>C (p.Phe124Ser) n.588T>C | |
| 1 | g.197144027A>T | CA344021194 | ASPM | c.371T>A (p.Phe124Tyr) n.588T>A | |
| 1 | g.197144028A= | CA1217946818 | ASPM | c.370T= (p.Phe124=) n.587T= | |
| 1 | g.197144028A>C | CA1310898 | ASPM | c.370T>G (p.Phe124Val) n.587T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144028A>G | CA344021198 | ASPM | c.370T>C (p.Phe124Leu) n.587T>C | ClinVar dbSNP |
| 1 | g.197144028A>T | CA344021200 | ASPM | c.370T>A (p.Phe124Ile) n.587T>A | |
| 1 | g.197144029T>A | CA422804472 | ASPM | c.369A>T (p.Thr123=) n.586A>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197144029T>C | CA1310899 | ASPM | c.369A>G (p.Thr123=) n.586A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144029T>G | CA422804473 | ASPM | c.369A>C (p.Thr123=) n.586A>C | |
| 1 | g.197144029T= | CA1217946819 | ASPM | c.369A= (p.Thr123=) n.586A= | |
| 1 | g.197144030G>A | CA344021207 | ASPM | c.368C>T (p.Thr123Ile) n.585C>T | |
| 1 | g.197144030G>C | CA344021208 | ASPM | c.368C>G (p.Thr123Arg) n.585C>G | |
| 1 | g.197144030G>T | CA344021205 | ASPM | c.368C>A (p.Thr123Lys) n.585C>A | |
| 1 | g.197144031T>A | CA344021210 | ASPM | c.367A>T (p.Thr123Ser) n.584A>T | |
| 1 | g.197144031T>C | CA344021211 | ASPM | c.367A>G (p.Thr123Ala) n.584A>G | gnomAD v4 |
| 1 | g.197144031T>G | CA344021214 | ASPM | c.367A>C (p.Thr123Pro) n.584A>C | |
| 1 | g.197144032C>A | CA344021216 | ASPM | c.366G>T (p.Met122Ile) n.583G>T | |
| 1 | g.197144032C>G | CA344021218 | ASPM | c.366G>C (p.Met122Ile) n.583G>C | |
| 1 | g.197144032C>T | CA344021220 | ASPM | c.366G>A (p.Met122Ile) n.583G>A | |
| 1 | g.197144033A>C | CA344021223 | ASPM | c.365T>G (p.Met122Arg) n.582T>G | |
| 1 | g.197144033A>G | CA344021225 | ASPM | c.365T>C (p.Met122Thr) n.582T>C | |
| 1 | g.197144033A>T | CA344021226 | ASPM | c.365T>A (p.Met122Lys) n.582T>A | |
| 1 | g.197144034T>A | CA344021229 | ASPM | c.364A>T (p.Met122Leu) n.581A>T | |
| 1 | g.197144034T>C | CA344021231 | ASPM | c.364A>G (p.Met122Val) n.581A>G | |
| 1 | g.197144034T>G | CA344021233 | ASPM | c.364A>C (p.Met122Leu) n.581A>C | |
| 1 | g.197144035A>C | CA344021234 | ASPM | c.363T>G (p.Ile121Met) n.580T>G | gnomAD v4 |
| 1 | g.197144035A>G | CA422804481 | ASPM | c.363T>C (p.Ile121=) n.580T>C | |
| 1 | g.197144035A>T | CA422804482 | ASPM | c.363T>A (p.Ile121=) n.580T>A | |
| 1 | g.197144036A>C | CA344021239 | ASPM | c.362T>G (p.Ile121Ser) n.579T>G | |
| 1 | g.197144036A>G | CA344021237 | ASPM | c.362T>C (p.Ile121Thr) n.579T>C | |
| 1 | g.197144036A>T | CA344021235 | ASPM | c.362T>A (p.Ile121Asn) n.579T>A | |
| 1 | g.197144037T>A | CA344021241 | ASPM | c.361A>T (p.Ile121Phe) n.578A>T | COSMIC |
| 1 | g.197144037T>C | CA344021243 | ASPM | c.361A>G (p.Ile121Val) n.578A>G | gnomAD v4 |
| 1 | g.197144037T>G | CA344021245 | ASPM | c.361A>C (p.Ile121Leu) n.578A>C | |
| 1 | g.197144038C>A | CA344021247 | ASPM | c.360G>T (p.Glu120Asp) n.577G>T | |
| 1 | g.197144038C= | CA1144277485 | ASPM | c.360G= (p.Glu120=) n.577G= | |
| 1 | g.197144038C>G | CA1310900 | ASPM | c.360G>C (p.Glu120Asp) n.577G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197144038C>T | CA422804483 | ASPM | c.360G>A (p.Glu120=) n.577G>A | gnomAD v4 |
| 1 | g.197144039T>A | CA344021253 | ASPM | c.359A>T (p.Glu120Val) n.576A>T | |
| 1 | g.197144039T>C | CA344021255 | ASPM | c.359A>G (p.Glu120Gly) n.576A>G | |
| 1 | g.197144039T>G | CA344021257 | ASPM | c.359A>C (p.Glu120Ala) n.576A>C | gnomAD v4 |
| 1 | g.197144040C>A | CA344021258 | ASPM | c.358G>T (p.Glu120Ter) n.575G>T | |
| 1 | g.197144040C>G | CA344021259 | ASPM | c.358G>C (p.Glu120Gln) n.575G>C | gnomAD v4 |
| 1 | g.197144040C>T | CA344021260 | ASPM | c.358G>A (p.Glu120Lys) n.575G>A | ClinVar |
| 1 | g.197144041T>A | CA344021261 | ASPM | c.357A>T (p.Arg119Ser) n.574A>T | |
| 1 | g.197144041T>C | CA422804487 | ASPM | c.357A>G (p.Arg119=) n.574A>G | |
| 1 | g.197144041T>G | CA344021262 | ASPM | c.357A>C (p.Arg119Ser) n.574A>C | |
| 1 | g.197144042C>A | CA344021264 | ASPM | c.356G>T (p.Arg119Ile) n.573G>T | |
| 1 | g.197144042C= | CA1217946820 | ASPM | c.356G= (p.Arg119=) n.573G= | |
| 1 | g.197144042C>G | CA1310901 | ASPM | c.356G>C (p.Arg119Thr) n.573G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197144042C>T | CA344021267 | ASPM | c.356G>A (p.Arg119Lys) n.573G>A | |
| 1 | g.197144043T>A | CA344021269 | ASPM | c.355A>T (p.Arg119Ter) n.572A>T | |
| 1 | g.197144043T>C | CA344021271 | ASPM | c.355A>G (p.Arg119Gly) n.572A>G | |
| 1 | g.197144043T>G | CA35862106 | ASPM | c.355A>C (p.Arg119=) n.572A>C | dbSNP gnomAD v4 |
| 1 | g.197144043T= | CA1217946821 | ASPM | c.355A= (p.Arg119=) n.572A= | |
| 1 | g.197144044T>A | CA422804489 | ASPM | c.354A>T (p.Val118=) n.571A>T | |
| 1 | g.197144044T>C | CA422804490 | ASPM | c.354A>G (p.Val118=) n.571A>G | gnomAD v4 |
| 1 | g.197144044T>G | CA422804491 | ASPM | c.354A>C (p.Val118=) n.571A>C | |
| 1 | g.197144045A>C | CA344021272 | ASPM | c.353T>G (p.Val118Gly) n.570T>G | |
| 1 | g.197144045A>G | CA344021274 | ASPM | c.353T>C (p.Val118Ala) n.570T>C | |
| 1 | g.197144045A>T | CA344021275 | ASPM | c.353T>A (p.Val118Glu) n.570T>A | |
| 1 | g.197144046C>A | CA344021279 | ASPM | c.352G>T (p.Val118Leu) n.569G>T | |
| 1 | g.197144046C>G | CA344021280 | ASPM | c.352G>C (p.Val118Leu) n.569G>C | |
| 1 | g.197144046C>T | CA344021283 | ASPM | c.352G>A (p.Val118Ile) n.569G>A | gnomAD v4 |
| 1 | g.197144047T>A | CA422804492 | ASPM | c.351A>T (p.Arg117=) n.568A>T | |
| 1 | g.197144047T>C | CA422804493 | ASPM | c.351A>G (p.Arg117=) n.568A>G | gnomAD v4 |
| 1 | g.197144047T>G | CA422804494 | ASPM | c.351A>C (p.Arg117=) n.568A>C | |
| 1 | g.197144048C>A | CA344021288 | ASPM | c.350G>T (p.Arg117Leu) n.567G>T | |
| 1 | g.197144048C= | CA1142178054 | ASPM | c.350G= (p.Arg117=) n.567G= | |
| 1 | g.197144048C>G | CA344021285 | ASPM | c.350G>C (p.Arg117Pro) n.567G>C | |
| 1 | g.197144048C>T | CA1310902 | ASPM | c.350G>A (p.Arg117Gln) n.567G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197144049G>A | CA340329 | ASPM | c.349C>T (p.Arg117Ter) n.566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.197144049G>C | CA344021291 | ASPM | c.349C>G (p.Arg117Gly) n.566C>G | |
| 1 | g.197144049G= | CA1141581335 | ASPM | c.349C= (p.Arg117=) n.566C= | |
| 1 | g.197144049G>T | CA422804495 | ASPM | c.349C>A (p.Arg117=) n.566C>A | |
| 1 | g.197144050G>A | CA422804496 | ASPM | c.348C>T (p.Gly116=) n.565C>T | |
| 1 | g.197144050G>C | CA422804497 | ASPM | c.348C>G (p.Gly116=) n.565C>G | dbSNP |
| 1 | g.197144050G= | CA1217946822 | ASPM | c.348C= (p.Gly116=) n.565C= | |
| 1 | g.197144050G>T | CA422804498 | ASPM | c.348C>A (p.Gly116=) n.565C>A | |
| 1 | g.197144051C>A | CA344021293 | ASPM | c.347G>T (p.Gly116Val) n.564G>T | dbSNP gnomAD v4 |
| 1 | g.197144051C= | CA1217946823 | ASPM | c.347G= (p.Gly116=) n.564G= | |
| 1 | g.197144051C>G | CA344021295 | ASPM | c.347G>C (p.Gly116Ala) n.564G>C | |
| 1 | g.197144051C>T | CA344021297 | ASPM | c.347G>A (p.Gly116Asp) n.564G>A | |
| 1 | g.197144052C>A | CA344021303 | ASPM | c.346G>T (p.Gly116Cys) n.563G>T | |
| 1 | g.197144052C= | CA1217946824 | ASPM | c.346G= (p.Gly116=) n.563G= | |
| 1 | g.197144052C>G | CA344021300 | ASPM | c.346G>C (p.Gly116Arg) n.563G>C | |
| 1 | g.197144052C>T | CA344021302 | ASPM | c.346G>A (p.Gly116Ser) n.563G>A | dbSNP gnomAD v3 gnomAD v4 |