Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197090277_197090280delinsAGAG | CA1143355784 | ASPM | n.3032_3035delinsCTCT c.9745_9748delinsCTCT (p.Leu3249=) c.9967_9970delinsCTCT (p.Leu3323=) c.9721_9724delinsCTCT (p.Leu3241=) c.4990_4993delinsCTCT (p.Leu1664=) c.2740_2743delinsCTCT (p.Leu914=) c.3703_3706delinsCTCT (p.Leu1235=) | |
1 | g.197090279_197090280del | CA342311 | ASPM | n.3034_3035del c.9747_9748del (p.Tyr3250GlnfsTer14) c.9969_9970del (p.Tyr3324GlnfsTer14) c.9723_9724del (p.Tyr3242GlnfsTer14) c.4992_4993del (p.Tyr1665GlnfsTer14) c.2742_2743del (p.Tyr915GlnfsTer14) c.3705_3706del (p.Tyr1236GlnfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090279A= | CA1217925222 | ASPM | n.3033T= c.9746T= (p.Leu3249=) c.9968T= (p.Leu3323=) c.9722T= (p.Leu3241=) c.4991T= (p.Leu1664=) c.2741T= (p.Leu914=) c.3704T= (p.Leu1235=) | |
1 | g.197090279A>C | CA344001783 | ASPM | n.3033T>G c.9746T>G (p.Leu3249Arg) c.9968T>G (p.Leu3323Arg) c.9722T>G (p.Leu3241Arg) c.4991T>G (p.Leu1664Arg) c.2741T>G (p.Leu914Arg) c.3704T>G (p.Leu1235Arg) | |
1 | g.197090279A>G | CA344001784 | ASPM | n.3033T>C c.9746T>C (p.Leu3249Pro) c.9968T>C (p.Leu3323Pro) c.9722T>C (p.Leu3241Pro) c.4991T>C (p.Leu1664Pro) c.2741T>C (p.Leu914Pro) c.3704T>C (p.Leu1235Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090279A>T | CA344001785 | ASPM | n.3033T>A c.9746T>A (p.Leu3249His) c.9968T>A (p.Leu3323His) c.9722T>A (p.Leu3241His) c.4991T>A (p.Leu1664His) c.2741T>A (p.Leu914His) c.3704T>A (p.Leu1235His) | |
1 | g.197090279_197090283delinsAGTTT | CA1217925219 | ASPM | n.3029_3033delinsAAACT c.9742_9746delinsAAACT (p.Lys3248=) c.9964_9968delinsAAACT (p.Lys3322=) c.9718_9722delinsAAACT (p.Lys3240=) c.4987_4991delinsAAACT (p.Lys1663=) c.2737_2741delinsAAACT (p.Lys913=) c.3700_3704delinsAAACT (p.Lys1234=) | |
1 | g.197090280G>A | CA344001786 | ASPM | n.3032C>T c.9745C>T (p.Leu3249Phe) c.9967C>T (p.Leu3323Phe) c.9721C>T (p.Leu3241Phe) c.4990C>T (p.Leu1664Phe) c.2740C>T (p.Leu914Phe) c.3703C>T (p.Leu1235Phe) | gnomAD v4 |
1 | g.197090280G>C | CA344001787 | ASPM | n.3032C>G c.9745C>G (p.Leu3249Val) c.9967C>G (p.Leu3323Val) c.9721C>G (p.Leu3241Val) c.4990C>G (p.Leu1664Val) c.2740C>G (p.Leu914Val) c.3703C>G (p.Leu1235Val) | dbSNP |
1 | g.197090280G= | CA1217925226 | ASPM | n.3032C= c.9745C= (p.Leu3249=) c.9967C= (p.Leu3323=) c.9721C= (p.Leu3241=) c.4990C= (p.Leu1664=) c.2740C= (p.Leu914=) c.3703C= (p.Leu1235=) | |
1 | g.197090280G>T | CA344001788 | ASPM | n.3032C>A c.9745C>A (p.Leu3249Ile) c.9967C>A (p.Leu3323Ile) c.9721C>A (p.Leu3241Ile) c.4990C>A (p.Leu1664Ile) c.2740C>A (p.Leu914Ile) c.3703C>A (p.Leu1235Ile) | |
1 | g.197090284_197090287del | CA1217925225 | ASPM | n.3029_3032del c.9742_9745del (p.Lys3248SerfsTer13) c.9964_9967del (p.Lys3322SerfsTer13) c.9718_9721del (p.Lys3240SerfsTer13) c.4987_4990del (p.Lys1663SerfsTer13) c.2737_2740del (p.Lys913SerfsTer13) c.3700_3703del (p.Lys1234SerfsTer13) | dbSNP |
1 | g.197090281T>A | CA344001789 | ASPM | n.3031A>T c.9744A>T (p.Lys3248Asn) c.9966A>T (p.Lys3322Asn) c.9720A>T (p.Lys3240Asn) c.4989A>T (p.Lys1663Asn) c.2739A>T (p.Lys913Asn) c.3702A>T (p.Lys1234Asn) | |
1 | g.197090281T>C | CA1308870 | ASPM | n.3031A>G c.9744A>G (p.Lys3248=) c.9966A>G (p.Lys3322=) c.9720A>G (p.Lys3240=) c.4989A>G (p.Lys1663=) c.2739A>G (p.Lys913=) c.3702A>G (p.Lys1234=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090281T>G | CA344001790 | ASPM | n.3031A>C c.9744A>C (p.Lys3248Asn) c.9966A>C (p.Lys3322Asn) c.9720A>C (p.Lys3240Asn) c.4989A>C (p.Lys1663Asn) c.2739A>C (p.Lys913Asn) c.3702A>C (p.Lys1234Asn) | |
1 | g.197090281T= | CA1148246952 | ASPM | n.3031A= c.9744A= (p.Lys3248=) c.9966A= (p.Lys3322=) c.9720A= (p.Lys3240=) c.4989A= (p.Lys1663=) c.2739A= (p.Lys913=) c.3702A= (p.Lys1234=) | |
1 | g.197090281_197090284delinsTTTG | CA1217925228 | ASPM | n.3028_3031delinsCAAA c.9741_9744delinsCAAA (p.Asn3247=) c.9963_9966delinsCAAA (p.Asn3321=) c.9717_9720delinsCAAA (p.Asn3239=) c.4986_4989delinsCAAA (p.Asn1662=) c.2736_2739delinsCAAA (p.Asn912=) c.3699_3702delinsCAAA (p.Asn1233=) | |
1 | g.197090282T>A | CA1308871 | ASPM | n.3030A>T c.9743A>T (p.Lys3248Ile) c.9965A>T (p.Lys3322Ile) c.9719A>T (p.Lys3240Ile) c.4988A>T (p.Lys1663Ile) c.2738A>T (p.Lys913Ile) c.3701A>T (p.Lys1234Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090282T>C | CA344001791 | ASPM | n.3030A>G c.9743A>G (p.Lys3248Arg) c.9965A>G (p.Lys3322Arg) c.9719A>G (p.Lys3240Arg) c.4988A>G (p.Lys1663Arg) c.2738A>G (p.Lys913Arg) c.3701A>G (p.Lys1234Arg) | |
1 | g.197090282T>G | CA344001792 | ASPM | n.3030A>C c.9743A>C (p.Lys3248Thr) c.9965A>C (p.Lys3322Thr) c.9719A>C (p.Lys3240Thr) c.4988A>C (p.Lys1663Thr) c.2738A>C (p.Lys913Thr) c.3701A>C (p.Lys1234Thr) | |
1 | g.197090282T= | CA1217925230 | ASPM | n.3030A= c.9743A= (p.Lys3248=) c.9965A= (p.Lys3322=) c.9719A= (p.Lys3240=) c.4988A= (p.Lys1663=) c.2738A= (p.Lys913=) c.3701A= (p.Lys1234=) | |
1 | g.197090284_197090286del | CA528534979 | ASPM | n.3028_3030del c.9741_9743del (p.Asn3247del) c.9963_9965del (p.Asn3321del) c.9717_9719del (p.Asn3239del) c.4986_4988del (p.Asn1662del) c.2736_2738del (p.Asn912del) c.3699_3701del (p.Asn1233del) | dbSNP gnomAD v2 |
1 | g.197090283T>A | CA344001793 | ASPM | n.3029A>T c.9742A>T (p.Lys3248Ter) c.9964A>T (p.Lys3322Ter) c.9718A>T (p.Lys3240Ter) c.4987A>T (p.Lys1663Ter) c.2737A>T (p.Lys913Ter) c.3700A>T (p.Lys1234Ter) | |
1 | g.197090283T>C | CA344001794 | ASPM | n.3029A>G c.9742A>G (p.Lys3248Glu) c.9964A>G (p.Lys3322Glu) c.9718A>G (p.Lys3240Glu) c.4987A>G (p.Lys1663Glu) c.2737A>G (p.Lys913Glu) c.3700A>G (p.Lys1234Glu) | gnomAD v4 |
1 | g.197090283T>G | CA344001795 | ASPM | n.3029A>C c.9742A>C (p.Lys3248Gln) c.9964A>C (p.Lys3322Gln) c.9718A>C (p.Lys3240Gln) c.4987A>C (p.Lys1663Gln) c.2737A>C (p.Lys913Gln) c.3700A>C (p.Lys1234Gln) | |
1 | g.197090284G>A | CA422805356 | ASPM | n.3028C>T c.9741C>T (p.Asn3247=) c.9963C>T (p.Asn3321=) c.9717C>T (p.Asn3239=) c.4986C>T (p.Asn1662=) c.2736C>T (p.Asn912=) c.3699C>T (p.Asn1233=) | |
1 | g.197090284G>C | CA344001797 | ASPM | n.3028C>G c.9741C>G (p.Asn3247Lys) c.9963C>G (p.Asn3321Lys) c.9717C>G (p.Asn3239Lys) c.4986C>G (p.Asn1662Lys) c.2736C>G (p.Asn912Lys) c.3699C>G (p.Asn1233Lys) | |
1 | g.197090284G>T | CA344001796 | ASPM | n.3028C>A c.9741C>A (p.Asn3247Lys) c.9963C>A (p.Asn3321Lys) c.9717C>A (p.Asn3239Lys) c.4986C>A (p.Asn1662Lys) c.2736C>A (p.Asn912Lys) c.3699C>A (p.Asn1233Lys) | |
1 | g.197090285T>A | CA344001798 | ASPM | n.3027A>T c.9740A>T (p.Asn3247Ile) c.9962A>T (p.Asn3321Ile) c.9716A>T (p.Asn3239Ile) c.4985A>T (p.Asn1662Ile) c.2735A>T (p.Asn912Ile) c.3698A>T (p.Asn1233Ile) | |
1 | g.197090285T>C | CA344001799 | ASPM | n.3027A>G c.9740A>G (p.Asn3247Ser) c.9962A>G (p.Asn3321Ser) c.9716A>G (p.Asn3239Ser) c.4985A>G (p.Asn1662Ser) c.2735A>G (p.Asn912Ser) c.3698A>G (p.Asn1233Ser) | |
1 | g.197090285T>G | CA344001800 | ASPM | n.3027A>C c.9740A>C (p.Asn3247Thr) c.9962A>C (p.Asn3321Thr) c.9716A>C (p.Asn3239Thr) c.4985A>C (p.Asn1662Thr) c.2735A>C (p.Asn912Thr) c.3698A>C (p.Asn1233Thr) | |
1 | g.197090286T>A | CA344001801 | ASPM | n.3026A>T c.9739A>T (p.Asn3247Tyr) c.9961A>T (p.Asn3321Tyr) c.9715A>T (p.Asn3239Tyr) c.4984A>T (p.Asn1662Tyr) c.2734A>T (p.Asn912Tyr) c.3697A>T (p.Asn1233Tyr) | |
1 | g.197090286T>C | CA344001802 | ASPM | n.3026A>G c.9739A>G (p.Asn3247Asp) c.9961A>G (p.Asn3321Asp) c.9715A>G (p.Asn3239Asp) c.4984A>G (p.Asn1662Asp) c.2734A>G (p.Asn912Asp) c.3697A>G (p.Asn1233Asp) | |
1 | g.197090286T>G | CA344001803 | ASPM | n.3026A>C c.9739A>C (p.Asn3247His) c.9961A>C (p.Asn3321His) c.9715A>C (p.Asn3239His) c.4984A>C (p.Asn1662His) c.2734A>C (p.Asn912His) c.3697A>C (p.Asn1233His) | |
1 | g.197090287T>A | CA344001804 | ASPM | n.3025A>T c.9738A>T (p.Glu3246Asp) c.9960A>T (p.Glu3320Asp) c.9714A>T (p.Glu3238Asp) c.4983A>T (p.Glu1661Asp) c.2733A>T (p.Glu911Asp) c.3696A>T (p.Glu1232Asp) | |
1 | g.197090287T>C | CA422805362 | ASPM | n.3025A>G c.9738A>G (p.Glu3246=) c.9960A>G (p.Glu3320=) c.9714A>G (p.Glu3238=) c.4983A>G (p.Glu1661=) c.2733A>G (p.Glu911=) c.3696A>G (p.Glu1232=) | |
1 | g.197090287T>G | CA344001805 | ASPM | n.3025A>C c.9738A>C (p.Glu3246Asp) c.9960A>C (p.Glu3320Asp) c.9714A>C (p.Glu3238Asp) c.4983A>C (p.Glu1661Asp) c.2733A>C (p.Glu911Asp) c.3696A>C (p.Glu1232Asp) | gnomAD v4 |
1 | g.197090288T>A | CA344001806 | ASPM | n.3024A>T c.9737A>T (p.Glu3246Val) c.9959A>T (p.Glu3320Val) c.9713A>T (p.Glu3238Val) c.4982A>T (p.Glu1661Val) c.2732A>T (p.Glu911Val) c.3695A>T (p.Glu1232Val) | |
1 | g.197090288T>C | CA344001807 | ASPM | n.3024A>G c.9737A>G (p.Glu3246Gly) c.9959A>G (p.Glu3320Gly) c.9713A>G (p.Glu3238Gly) c.4982A>G (p.Glu1661Gly) c.2732A>G (p.Glu911Gly) c.3695A>G (p.Glu1232Gly) | |
1 | g.197090288T>G | CA344001808 | ASPM | n.3024A>C c.9737A>C (p.Glu3246Ala) c.9959A>C (p.Glu3320Ala) c.9713A>C (p.Glu3238Ala) c.4982A>C (p.Glu1661Ala) c.2732A>C (p.Glu911Ala) c.3695A>C (p.Glu1232Ala) | |
1 | g.197090288T= | CA1217925235 | ASPM | n.3024A= c.9737A= (p.Glu3246=) c.9959A= (p.Glu3320=) c.9713A= (p.Glu3238=) c.4982A= (p.Glu1661=) c.2732A= (p.Glu911=) c.3695A= (p.Glu1232=) | |
1 | g.197090288_197090289insAA | CA1217925236 | ASPM | n.3023_3024insTT c.9736_9737insTT (p.Glu3246ValfsTer17) c.9958_9959insTT (p.Glu3320ValfsTer17) c.9712_9713insTT (p.Glu3238ValfsTer17) c.4981_4982insTT (p.Glu1661ValfsTer17) c.2731_2732insTT (p.Glu911ValfsTer17) c.3694_3695insTT (p.Glu1232ValfsTer17) | dbSNP |
1 | g.197090289C>A | CA344001809 | ASPM | n.3023G>T c.9736G>T (p.Glu3246Ter) c.9958G>T (p.Glu3320Ter) c.9712G>T (p.Glu3238Ter) c.4981G>T (p.Glu1661Ter) c.2731G>T (p.Glu911Ter) c.3694G>T (p.Glu1232Ter) | |
1 | g.197090289C= | CA1217925237 | ASPM | n.3023G= c.9736G= (p.Glu3246=) c.9958G= (p.Glu3320=) c.9712G= (p.Glu3238=) c.4981G= (p.Glu1661=) c.2731G= (p.Glu911=) c.3694G= (p.Glu1232=) | |
1 | g.197090289C>G | CA344001810 | ASPM | n.3023G>C c.9736G>C (p.Glu3246Gln) c.9958G>C (p.Glu3320Gln) c.9712G>C (p.Glu3238Gln) c.4981G>C (p.Glu1661Gln) c.2731G>C (p.Glu911Gln) c.3694G>C (p.Glu1232Gln) | |
1 | g.197090289C>T | CA344001811 | ASPM | n.3023G>A c.9736G>A (p.Glu3246Lys) c.9958G>A (p.Glu3320Lys) c.9712G>A (p.Glu3238Lys) c.4981G>A (p.Glu1661Lys) c.2731G>A (p.Glu911Lys) c.3694G>A (p.Glu1232Lys) | |
1 | g.197090289_197090290insATGTTTAAAGAATGATGTAATACTACATTA | CA1217925241 | ASPM | n.3022_3023insTAATGTAGTATTACATCATTCTTTAAACAT c.9735_9736insTAATGTAGTATTACATCATTCTTTAAACAT c.9957_9958insTAATGTAGTATTACATCATTCTTTAAACAT c.9711_9712insTAATGTAGTATTACATCATTCTTTAAACAT c.4980_4981insTAATGTAGTATTACATCATTCTTTAAACAT c.2730_2731insTAATGTAGTATTACATCATTCTTTAAACAT c.3693_3694insTAATGTAGTATTACATCATTCTTTAAACAT | dbSNP |
1 | g.197090290T>A | CA344001812 | ASPM | n.3022A>T c.9735A>T (p.Glu3245Asp) c.9957A>T (p.Glu3319Asp) c.9711A>T (p.Glu3237Asp) c.4980A>T (p.Glu1660Asp) c.2730A>T (p.Glu910Asp) c.3693A>T (p.Glu1231Asp) | |
1 | g.197090290T>C | CA422805367 | ASPM | n.3022A>G c.9735A>G (p.Glu3245=) c.9957A>G (p.Glu3319=) c.9711A>G (p.Glu3237=) c.4980A>G (p.Glu1660=) c.2730A>G (p.Glu910=) c.3693A>G (p.Glu1231=) | |
1 | g.197090290T>G | CA344001813 | ASPM | n.3022A>C c.9735A>C (p.Glu3245Asp) c.9957A>C (p.Glu3319Asp) c.9711A>C (p.Glu3237Asp) c.4980A>C (p.Glu1660Asp) c.2730A>C (p.Glu910Asp) c.3693A>C (p.Glu1231Asp) | |
1 | g.197090291T>A | CA344001814 | ASPM | n.3021A>T c.9734A>T (p.Glu3245Val) c.9956A>T (p.Glu3319Val) c.9710A>T (p.Glu3237Val) c.4979A>T (p.Glu1660Val) c.2729A>T (p.Glu910Val) c.3692A>T (p.Glu1231Val) | |
1 | g.197090291T>C | CA344001815 | ASPM | n.3021A>G c.9734A>G (p.Glu3245Gly) c.9956A>G (p.Glu3319Gly) c.9710A>G (p.Glu3237Gly) c.4979A>G (p.Glu1660Gly) c.2729A>G (p.Glu910Gly) c.3692A>G (p.Glu1231Gly) | |
1 | g.197090291T>G | CA344001816 | ASPM | n.3021A>C c.9734A>C (p.Glu3245Ala) c.9956A>C (p.Glu3319Ala) c.9710A>C (p.Glu3237Ala) c.4979A>C (p.Glu1660Ala) c.2729A>C (p.Glu910Ala) c.3692A>C (p.Glu1231Ala) | |
1 | g.197090292C>A | CA344001817 | ASPM | n.3020G>T c.9733G>T (p.Glu3245Ter) c.9955G>T (p.Glu3319Ter) c.9709G>T (p.Glu3237Ter) c.4978G>T (p.Glu1660Ter) c.2728G>T (p.Glu910Ter) c.3691G>T (p.Glu1231Ter) | |
1 | g.197090292C>G | CA344001818 | ASPM | n.3020G>C c.9733G>C (p.Glu3245Gln) c.9955G>C (p.Glu3319Gln) c.9709G>C (p.Glu3237Gln) c.4978G>C (p.Glu1660Gln) c.2728G>C (p.Glu910Gln) c.3691G>C (p.Glu1231Gln) | |
1 | g.197090292C>T | CA344001819 | ASPM | n.3020G>A c.9733G>A (p.Glu3245Lys) c.9955G>A (p.Glu3319Lys) c.9709G>A (p.Glu3237Lys) c.4978G>A (p.Glu1660Lys) c.2728G>A (p.Glu910Lys) c.3691G>A (p.Glu1231Lys) | |
1 | g.197090293T>A | CA422805376 | ASPM | n.3019A>T c.9732A>T (p.Arg3244=) c.9954A>T (p.Arg3318=) c.9708A>T (p.Arg3236=) c.4977A>T (p.Arg1659=) c.2727A>T (p.Arg909=) c.3690A>T (p.Arg1230=) | |
1 | g.197090293T>C | CA422805377 | ASPM | n.3019A>G c.9732A>G (p.Arg3244=) c.9954A>G (p.Arg3318=) c.9708A>G (p.Arg3236=) c.4977A>G (p.Arg1659=) c.2727A>G (p.Arg909=) c.3690A>G (p.Arg1230=) | |
1 | g.197090293T>G | CA422805378 | ASPM | n.3019A>C c.9732A>C (p.Arg3244=) c.9954A>C (p.Arg3318=) c.9708A>C (p.Arg3236=) c.4977A>C (p.Arg1659=) c.2727A>C (p.Arg909=) c.3690A>C (p.Arg1230=) | |
1 | g.197090294C>A | CA344001820 | ASPM | n.3018G>T c.9731G>T (p.Arg3244Leu) c.9953G>T (p.Arg3318Leu) c.9707G>T (p.Arg3236Leu) c.4976G>T (p.Arg1659Leu) c.2726G>T (p.Arg909Leu) c.3689G>T (p.Arg1230Leu) | |
1 | g.197090294C= | CA1217925244 | ASPM | n.3018G= c.9731G= (p.Arg3244=) c.9953G= (p.Arg3318=) c.9707G= (p.Arg3236=) c.4976G= (p.Arg1659=) c.2726G= (p.Arg909=) c.3689G= (p.Arg1230=) | |
1 | g.197090294C>G | CA344001821 | ASPM | n.3018G>C c.9731G>C (p.Arg3244Pro) c.9953G>C (p.Arg3318Pro) c.9707G>C (p.Arg3236Pro) c.4976G>C (p.Arg1659Pro) c.2726G>C (p.Arg909Pro) c.3689G>C (p.Arg1230Pro) | |
1 | g.197090294C>T | CA1308872 | ASPM | n.3018G>A c.9731G>A (p.Arg3244Gln) c.9953G>A (p.Arg3318Gln) c.9707G>A (p.Arg3236Gln) c.4976G>A (p.Arg1659Gln) c.2726G>A (p.Arg909Gln) c.3689G>A (p.Arg1230Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197090295G>A | CA342309 | ASPM | n.3017C>T c.9730C>T (p.Arg3244Ter) c.9952C>T (p.Arg3318Ter) c.9706C>T (p.Arg3236Ter) c.4975C>T (p.Arg1659Ter) c.2725C>T (p.Arg909Ter) c.3688C>T (p.Arg1230Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197090295G>C | CA344001822 | ASPM | n.3017C>G c.9730C>G (p.Arg3244Gly) c.9952C>G (p.Arg3318Gly) c.9706C>G (p.Arg3236Gly) c.4975C>G (p.Arg1659Gly) c.2725C>G (p.Arg909Gly) c.3688C>G (p.Arg1230Gly) | gnomAD v4 |
1 | g.197090295G= | CA1143355785 | ASPM | n.3017C= c.9730C= (p.Arg3244=) c.9952C= (p.Arg3318=) c.9706C= (p.Arg3236=) c.4975C= (p.Arg1659=) c.2725C= (p.Arg909=) c.3688C= (p.Arg1230=) | |
1 | g.197090295G>T | CA422805387 | ASPM | n.3017C>A c.9730C>A (p.Arg3244=) c.9952C>A (p.Arg3318=) c.9706C>A (p.Arg3236=) c.4975C>A (p.Arg1659=) c.2725C>A (p.Arg909=) c.3688C>A (p.Arg1230=) | |
1 | g.197090296A= | CA1217925250 | ASPM | n.3016T= c.9729T= (p.Ile3243=) c.9951T= (p.Ile3317=) c.9705T= (p.Ile3235=) c.4974T= (p.Ile1658=) c.2724T= (p.Ile908=) c.3687T= (p.Ile1229=) | |
1 | g.197090296A>C | CA35861990 | ASPM | n.3016T>G c.9729T>G (p.Ile3243Met) c.9951T>G (p.Ile3317Met) c.9705T>G (p.Ile3235Met) c.4974T>G (p.Ile1658Met) c.2724T>G (p.Ile908Met) c.3687T>G (p.Ile1229Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090296A>G | CA422805397 | ASPM | n.3016T>C c.9729T>C (p.Ile3243=) c.9951T>C (p.Ile3317=) c.9705T>C (p.Ile3235=) c.4974T>C (p.Ile1658=) c.2724T>C (p.Ile908=) c.3687T>C (p.Ile1229=) | |
1 | g.197090296A>T | CA422805398 | ASPM | n.3016T>A c.9729T>A (p.Ile3243=) c.9951T>A (p.Ile3317=) c.9705T>A (p.Ile3235=) c.4974T>A (p.Ile1658=) c.2724T>A (p.Ile908=) c.3687T>A (p.Ile1229=) | |
1 | g.197090297A= | CA1217925253 | ASPM | n.3015T= c.9728T= (p.Ile3243=) c.9950T= (p.Ile3317=) c.9704T= (p.Ile3235=) c.4973T= (p.Ile1658=) c.2723T= (p.Ile908=) c.3686T= (p.Ile1229=) | |
1 | g.197090297A>C | CA1308873 | ASPM | n.3015T>G c.9728T>G (p.Ile3243Ser) c.9950T>G (p.Ile3317Ser) c.9704T>G (p.Ile3235Ser) c.4973T>G (p.Ile1658Ser) c.2723T>G (p.Ile908Ser) c.3686T>G (p.Ile1229Ser) | dbSNP ExAC gnomAD v2 |
1 | g.197090297A>G | CA344001824 | ASPM | n.3015T>C c.9728T>C (p.Ile3243Thr) c.9950T>C (p.Ile3317Thr) c.9704T>C (p.Ile3235Thr) c.4973T>C (p.Ile1658Thr) c.2723T>C (p.Ile908Thr) c.3686T>C (p.Ile1229Thr) | |
1 | g.197090297A>T | CA344001823 | ASPM | n.3015T>A c.9728T>A (p.Ile3243Asn) c.9950T>A (p.Ile3317Asn) c.9704T>A (p.Ile3235Asn) c.4973T>A (p.Ile1658Asn) c.2723T>A (p.Ile908Asn) c.3686T>A (p.Ile1229Asn) | |
1 | g.197090298T>A | CA344001825 | ASPM | n.3014A>T c.9727A>T (p.Ile3243Phe) c.9949A>T (p.Ile3317Phe) c.9703A>T (p.Ile3235Phe) c.4972A>T (p.Ile1658Phe) c.2722A>T (p.Ile908Phe) c.3685A>T (p.Ile1229Phe) | |
1 | g.197090298T>C | CA344001827 | ASPM | n.3014A>G c.9727A>G (p.Ile3243Val) c.9949A>G (p.Ile3317Val) c.9703A>G (p.Ile3235Val) c.4972A>G (p.Ile1658Val) c.2722A>G (p.Ile908Val) c.3685A>G (p.Ile1229Val) | |
1 | g.197090298T>G | CA344001826 | ASPM | n.3014A>C c.9727A>C (p.Ile3243Leu) c.9949A>C (p.Ile3317Leu) c.9703A>C (p.Ile3235Leu) c.4972A>C (p.Ile1658Leu) c.2722A>C (p.Ile908Leu) c.3685A>C (p.Ile1229Leu) | |
1 | g.197090299C>A | CA344001828 | ASPM | n.3013G>T c.9726G>T (p.Glu3242Asp) c.9948G>T (p.Glu3316Asp) c.9702G>T (p.Glu3234Asp) c.4971G>T (p.Glu1657Asp) c.2721G>T (p.Glu907Asp) c.3684G>T (p.Glu1228Asp) | |
1 | g.197090299C= | CA1148224799 | ASPM | n.3013G= c.9726G= (p.Glu3242=) c.9948G= (p.Glu3316=) c.9702G= (p.Glu3234=) c.4971G= (p.Glu1657=) c.2721G= (p.Glu907=) c.3684G= (p.Glu1228=) | |
1 | g.197090299C>G | CA344001829 | ASPM | n.3013G>C c.9726G>C (p.Glu3242Asp) c.9948G>C (p.Glu3316Asp) c.9702G>C (p.Glu3234Asp) c.4971G>C (p.Glu1657Asp) c.2721G>C (p.Glu907Asp) c.3684G>C (p.Glu1228Asp) | |
1 | g.197090299C>T | CA271157 | ASPM | n.3013G>A c.9726G>A (p.Glu3242=) c.9948G>A (p.Glu3316=) c.9702G>A (p.Glu3234=) c.4971G>A (p.Glu1657=) c.2721G>A (p.Glu907=) c.3684G>A (p.Glu1228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090300T>A | CA344001830 | ASPM | n.3012A>T c.9725A>T (p.Glu3242Val) c.9947A>T (p.Glu3316Val) c.9701A>T (p.Glu3234Val) c.4970A>T (p.Glu1657Val) c.2720A>T (p.Glu907Val) c.3683A>T (p.Glu1228Val) | |
1 | g.197090300T>C | CA344001831 | ASPM | n.3012A>G c.9725A>G (p.Glu3242Gly) c.9947A>G (p.Glu3316Gly) c.9701A>G (p.Glu3234Gly) c.4970A>G (p.Glu1657Gly) c.2720A>G (p.Glu907Gly) c.3683A>G (p.Glu1228Gly) | gnomAD v4 |
1 | g.197090300T>G | CA344001832 | ASPM | n.3012A>C c.9725A>C (p.Glu3242Ala) c.9947A>C (p.Glu3316Ala) c.9701A>C (p.Glu3234Ala) c.4970A>C (p.Glu1657Ala) c.2720A>C (p.Glu907Ala) c.3683A>C (p.Glu1228Ala) | |
1 | g.197090301C>A | CA344001833 | ASPM | n.3011G>T c.9724G>T (p.Glu3242Ter) c.9946G>T (p.Glu3316Ter) c.9700G>T (p.Glu3234Ter) c.4969G>T (p.Glu1657Ter) c.2719G>T (p.Glu907Ter) c.3682G>T (p.Glu1228Ter) | |
1 | g.197090301C>G | CA344001834 | ASPM | n.3011G>C c.9724G>C (p.Glu3242Gln) c.9946G>C (p.Glu3316Gln) c.9700G>C (p.Glu3234Gln) c.4969G>C (p.Glu1657Gln) c.2719G>C (p.Glu907Gln) c.3682G>C (p.Glu1228Gln) | |
1 | g.197090301C>T | CA344001835 | ASPM | n.3011G>A c.9724G>A (p.Glu3242Lys) c.9946G>A (p.Glu3316Lys) c.9700G>A (p.Glu3234Lys) c.4969G>A (p.Glu1657Lys) c.2719G>A (p.Glu907Lys) c.3682G>A (p.Glu1228Lys) | |
1 | g.197090302C>A | CA344001836 | ASPM | n.3010G>T c.9723G>T (p.Arg3241Ser) c.9945G>T (p.Arg3315Ser) c.9699G>T (p.Arg3233Ser) c.4968G>T (p.Arg1656Ser) c.2718G>T (p.Arg906Ser) c.3681G>T (p.Arg1227Ser) | |
1 | g.197090302C>G | CA344001837 | ASPM | n.3010G>C c.9723G>C (p.Arg3241Ser) c.9945G>C (p.Arg3315Ser) c.9699G>C (p.Arg3233Ser) c.4968G>C (p.Arg1656Ser) c.2718G>C (p.Arg906Ser) c.3681G>C (p.Arg1227Ser) | |
1 | g.197090302C>T | CA422805424 | ASPM | n.3010G>A c.9723G>A (p.Arg3241=) c.9945G>A (p.Arg3315=) c.9699G>A (p.Arg3233=) c.4968G>A (p.Arg1656=) c.2718G>A (p.Arg906=) c.3681G>A (p.Arg1227=) | |
1 | g.197090303C>A | CA344001840 | ASPM | n.3009G>T c.9722G>T (p.Arg3241Met) c.9944G>T (p.Arg3315Met) c.9698G>T (p.Arg3233Met) c.4967G>T (p.Arg1656Met) c.2717G>T (p.Arg906Met) c.3680G>T (p.Arg1227Met) | gnomAD v4 |
1 | g.197090303C>G | CA344001838 | ASPM | n.3009G>C c.9722G>C (p.Arg3241Thr) c.9944G>C (p.Arg3315Thr) c.9698G>C (p.Arg3233Thr) c.4967G>C (p.Arg1656Thr) c.2717G>C (p.Arg906Thr) c.3680G>C (p.Arg1227Thr) | |
1 | g.197090303C>T | CA344001839 | ASPM | n.3009G>A c.9722G>A (p.Arg3241Lys) c.9944G>A (p.Arg3315Lys) c.9698G>A (p.Arg3233Lys) c.4967G>A (p.Arg1656Lys) c.2717G>A (p.Arg906Lys) c.3680G>A (p.Arg1227Lys) | gnomAD v4 |
1 | g.197090304T>A | CA344001841 | ASPM | n.3008A>T c.9721A>T (p.Arg3241Trp) c.9943A>T (p.Arg3315Trp) c.9697A>T (p.Arg3233Trp) c.4966A>T (p.Arg1656Trp) c.2716A>T (p.Arg906Trp) c.3679A>T (p.Arg1227Trp) | |
1 | g.197090304T>C | CA344001842 | ASPM | n.3008A>G c.9721A>G (p.Arg3241Gly) c.9943A>G (p.Arg3315Gly) c.9697A>G (p.Arg3233Gly) c.4966A>G (p.Arg1656Gly) c.2716A>G (p.Arg906Gly) c.3679A>G (p.Arg1227Gly) | |
1 | g.197090304T>G | CA422805442 | ASPM | n.3008A>C c.9721A>C (p.Arg3241=) c.9943A>C (p.Arg3315=) c.9697A>C (p.Arg3233=) c.4966A>C (p.Arg1656=) c.2716A>C (p.Arg906=) c.3679A>C (p.Arg1227=) | |
1 | g.197090305A= | CA1217925260 | ASPM | n.3007T= c.9720T= (p.Asn3240=) c.9942T= (p.Asn3314=) c.9696T= (p.Asn3232=) c.4965T= (p.Asn1655=) c.2715T= (p.Asn905=) c.3678T= (p.Asn1226=) | |
1 | g.197090305A>C | CA344001843 | ASPM | n.3007T>G c.9720T>G (p.Asn3240Lys) c.9942T>G (p.Asn3314Lys) c.9696T>G (p.Asn3232Lys) c.4965T>G (p.Asn1655Lys) c.2715T>G (p.Asn905Lys) c.3678T>G (p.Asn1226Lys) | gnomAD v4 |
1 | g.197090305A>G | CA1308874 | ASPM | n.3007T>C c.9720T>C (p.Asn3240=) c.9942T>C (p.Asn3314=) c.9696T>C (p.Asn3232=) c.4965T>C (p.Asn1655=) c.2715T>C (p.Asn905=) c.3678T>C (p.Asn1226=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090305A>T | CA344001844 | ASPM | n.3007T>A c.9720T>A (p.Asn3240Lys) c.9942T>A (p.Asn3314Lys) c.9696T>A (p.Asn3232Lys) c.4965T>A (p.Asn1655Lys) c.2715T>A (p.Asn905Lys) c.3678T>A (p.Asn1226Lys) | |
1 | g.197090306T>A | CA344001845 | ASPM | n.3006A>T c.9719A>T (p.Asn3240Ile) c.9941A>T (p.Asn3314Ile) c.9695A>T (p.Asn3232Ile) c.4964A>T (p.Asn1655Ile) c.2714A>T (p.Asn905Ile) c.3677A>T (p.Asn1226Ile) | |
1 | g.197090306T>C | CA344001846 | ASPM | n.3006A>G c.9719A>G (p.Asn3240Ser) c.9941A>G (p.Asn3314Ser) c.9695A>G (p.Asn3232Ser) c.4964A>G (p.Asn1655Ser) c.2714A>G (p.Asn905Ser) c.3677A>G (p.Asn1226Ser) | dbSNP |
1 | g.197090306T>G | CA344001847 | ASPM | n.3006A>C c.9719A>C (p.Asn3240Thr) c.9941A>C (p.Asn3314Thr) c.9695A>C (p.Asn3232Thr) c.4964A>C (p.Asn1655Thr) c.2714A>C (p.Asn905Thr) c.3677A>C (p.Asn1226Thr) | |
1 | g.197090306T= | CA1217925265 | ASPM | n.3006A= c.9719A= (p.Asn3240=) c.9941A= (p.Asn3314=) c.9695A= (p.Asn3232=) c.4964A= (p.Asn1655=) c.2714A= (p.Asn905=) c.3677A= (p.Asn1226=) | |
1 | g.197090307T>A | CA344001848 | ASPM | n.3005A>T c.9718A>T (p.Asn3240Tyr) c.9940A>T (p.Asn3314Tyr) c.9694A>T (p.Asn3232Tyr) c.4963A>T (p.Asn1655Tyr) c.2713A>T (p.Asn905Tyr) c.3676A>T (p.Asn1226Tyr) | |
1 | g.197090307T>C | CA344001849 | ASPM | n.3005A>G c.9718A>G (p.Asn3240Asp) c.9940A>G (p.Asn3314Asp) c.9694A>G (p.Asn3232Asp) c.4963A>G (p.Asn1655Asp) c.2713A>G (p.Asn905Asp) c.3676A>G (p.Asn1226Asp) | |
1 | g.197090307T>G | CA344001850 | ASPM | n.3005A>C c.9718A>C (p.Asn3240His) c.9940A>C (p.Asn3314His) c.9694A>C (p.Asn3232His) c.4963A>C (p.Asn1655His) c.2713A>C (p.Asn905His) c.3676A>C (p.Asn1226His) | |
1 | g.197090308A>C | CA422672300 | ASPM | n.3004T>G c.9717T>G (p.Val3239=) c.9939T>G (p.Val3313=) c.9693T>G (p.Val3231=) c.4962T>G (p.Val1654=) c.2712T>G (p.Val904=) c.3675T>G (p.Val1225=) | |
1 | g.197090308A>G | CA422672299 | ASPM | n.3004T>C c.9717T>C (p.Val3239=) c.9939T>C (p.Val3313=) c.9693T>C (p.Val3231=) c.4962T>C (p.Val1654=) c.2712T>C (p.Val904=) c.3675T>C (p.Val1225=) | |
1 | g.197090308A>T | CA422672298 | ASPM | n.3004T>A c.9717T>A (p.Val3239=) c.9939T>A (p.Val3313=) c.9693T>A (p.Val3231=) c.4962T>A (p.Val1654=) c.2712T>A (p.Val904=) c.3675T>A (p.Val1225=) | |
1 | g.197090311_197090313del | CA2649660640 | ASPM | n.3002_3004del c.9715_9717del (p.Val3239del) c.9937_9939del (p.Val3313del) c.9691_9693del (p.Val3231del) c.4960_4962del (p.Val1654del) c.2710_2712del (p.Val904del) c.3673_3675del (p.Val1225del) | gnomAD v4 |
1 | g.197090309A>C | CA344001852 | ASPM | n.3003T>G c.9716T>G (p.Val3239Gly) c.9938T>G (p.Val3313Gly) c.9692T>G (p.Val3231Gly) c.4961T>G (p.Val1654Gly) c.2711T>G (p.Val904Gly) c.3674T>G (p.Val1225Gly) | |
1 | g.197090309A>G | CA344001853 | ASPM | n.3003T>C c.9716T>C (p.Val3239Ala) c.9938T>C (p.Val3313Ala) c.9692T>C (p.Val3231Ala) c.4961T>C (p.Val1654Ala) c.2711T>C (p.Val904Ala) c.3674T>C (p.Val1225Ala) | |
1 | g.197090309A>T | CA344001851 | ASPM | n.3003T>A c.9716T>A (p.Val3239Asp) c.9938T>A (p.Val3313Asp) c.9692T>A (p.Val3231Asp) c.4961T>A (p.Val1654Asp) c.2711T>A (p.Val904Asp) c.3674T>A (p.Val1225Asp) | |
1 | g.197090310C>A | CA1308875 | ASPM | n.3002G>T c.9715G>T (p.Val3239Phe) c.9937G>T (p.Val3313Phe) c.9691G>T (p.Val3231Phe) c.4960G>T (p.Val1654Phe) c.2710G>T (p.Val904Phe) c.3673G>T (p.Val1225Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090310C= | CA1217925273 | ASPM | n.3002G= c.9715G= (p.Val3239=) c.9937G= (p.Val3313=) c.9691G= (p.Val3231=) c.4960G= (p.Val1654=) c.2710G= (p.Val904=) c.3673G= (p.Val1225=) | |
1 | g.197090310C>G | CA344001854 | ASPM | n.3002G>C c.9715G>C (p.Val3239Leu) c.9937G>C (p.Val3313Leu) c.9691G>C (p.Val3231Leu) c.4960G>C (p.Val1654Leu) c.2710G>C (p.Val904Leu) c.3673G>C (p.Val1225Leu) | |
1 | g.197090310C>T | CA344001855 | ASPM | n.3002G>A c.9715G>A (p.Val3239Ile) c.9937G>A (p.Val3313Ile) c.9691G>A (p.Val3231Ile) c.4960G>A (p.Val1654Ile) c.2710G>A (p.Val904Ile) c.3673G>A (p.Val1225Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090311A= | CA1217925275 | ASPM | n.3001T= c.9714T= (p.Val3238=) c.9936T= (p.Val3312=) c.9690T= (p.Val3230=) c.4959T= (p.Val1653=) c.2709T= (p.Val903=) c.3672T= (p.Val1224=) | |
1 | g.197090311A>C | CA422672304 | ASPM | n.3001T>G c.9714T>G (p.Val3238=) c.9936T>G (p.Val3312=) c.9690T>G (p.Val3230=) c.4959T>G (p.Val1653=) c.2709T>G (p.Val903=) c.3672T>G (p.Val1224=) | dbSNP gnomAD v2 |
1 | g.197090311A>G | CA422672306 | ASPM | n.3001T>C c.9714T>C (p.Val3238=) c.9936T>C (p.Val3312=) c.9690T>C (p.Val3230=) c.4959T>C (p.Val1653=) c.2709T>C (p.Val903=) c.3672T>C (p.Val1224=) | |
1 | g.197090311A>T | CA422672305 | ASPM | n.3001T>A c.9714T>A (p.Val3238=) c.9936T>A (p.Val3312=) c.9690T>A (p.Val3230=) c.4959T>A (p.Val1653=) c.2709T>A (p.Val903=) c.3672T>A (p.Val1224=) | |
1 | g.197090312A= | CA1145081847 | ASPM | n.3000T= c.9713T= (p.Val3238=) c.9935T= (p.Val3312=) c.9689T= (p.Val3230=) c.4958T= (p.Val1653=) c.2708T= (p.Val903=) c.3671T= (p.Val1224=) | |
1 | g.197090312A>C | CA344001856 | ASPM | n.3000T>G c.9713T>G (p.Val3238Gly) c.9935T>G (p.Val3312Gly) c.9689T>G (p.Val3230Gly) c.4958T>G (p.Val1653Gly) c.2708T>G (p.Val903Gly) c.3671T>G (p.Val1224Gly) | |
1 | g.197090312A>G | CA344001857 | ASPM | n.3000T>C c.9713T>C (p.Val3238Ala) c.9935T>C (p.Val3312Ala) c.9689T>C (p.Val3230Ala) c.4958T>C (p.Val1653Ala) c.2708T>C (p.Val903Ala) c.3671T>C (p.Val1224Ala) | |
1 | g.197090312A>T | CA1308876 | ASPM | n.3000T>A c.9713T>A (p.Val3238Asp) c.9935T>A (p.Val3312Asp) c.9689T>A (p.Val3230Asp) c.4958T>A (p.Val1653Asp) c.2708T>A (p.Val903Asp) c.3671T>A (p.Val1224Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090313C>A | CA344001858 | ASPM | n.2999G>T c.9712G>T (p.Val3238Phe) c.9934G>T (p.Val3312Phe) c.9688G>T (p.Val3230Phe) c.4957G>T (p.Val1653Phe) c.2707G>T (p.Val903Phe) c.3670G>T (p.Val1224Phe) | |
1 | g.197090313C>G | CA344001859 | ASPM | n.2999G>C c.9712G>C (p.Val3238Leu) c.9934G>C (p.Val3312Leu) c.9688G>C (p.Val3230Leu) c.4957G>C (p.Val1653Leu) c.2707G>C (p.Val903Leu) c.3670G>C (p.Val1224Leu) | |
1 | g.197090313C>T | CA344001860 | ASPM | n.2999G>A c.9712G>A (p.Val3238Ile) c.9934G>A (p.Val3312Ile) c.9688G>A (p.Val3230Ile) c.4957G>A (p.Val1653Ile) c.2707G>A (p.Val903Ile) c.3670G>A (p.Val1224Ile) | gnomAD v4 |
1 | g.197090314T>A | CA344001861 | ASPM | n.2998A>T c.9711A>T (p.Gln3237His) c.9933A>T (p.Gln3311His) c.9687A>T (p.Gln3229His) c.4956A>T (p.Gln1652His) c.2706A>T (p.Gln902His) c.3669A>T (p.Gln1223His) | gnomAD v4 |
1 | g.197090314T>C | CA1308877 | ASPM | n.2998A>G c.9711A>G (p.Gln3237=) c.9933A>G (p.Gln3311=) c.9687A>G (p.Gln3229=) c.4956A>G (p.Gln1652=) c.2706A>G (p.Gln902=) c.3669A>G (p.Gln1223=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090314T>G | CA344001862 | ASPM | n.2998A>C c.9711A>C (p.Gln3237His) c.9933A>C (p.Gln3311His) c.9687A>C (p.Gln3229His) c.4956A>C (p.Gln1652His) c.2706A>C (p.Gln902His) c.3669A>C (p.Gln1223His) | |
1 | g.197090314T= | CA1217925281 | ASPM | n.2998A= c.9711A= (p.Gln3237=) c.9933A= (p.Gln3311=) c.9687A= (p.Gln3229=) c.4956A= (p.Gln1652=) c.2706A= (p.Gln902=) c.3669A= (p.Gln1223=) | |
1 | g.197090315T>A | CA344001864 | ASPM | n.2997A>T c.9710A>T (p.Gln3237Leu) c.9932A>T (p.Gln3311Leu) c.9686A>T (p.Gln3229Leu) c.4955A>T (p.Gln1652Leu) c.2705A>T (p.Gln902Leu) c.3668A>T (p.Gln1223Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090315T>C | CA344001865 | ASPM | n.2997A>G c.9710A>G (p.Gln3237Arg) c.9932A>G (p.Gln3311Arg) c.9686A>G (p.Gln3229Arg) c.4955A>G (p.Gln1652Arg) c.2705A>G (p.Gln902Arg) c.3668A>G (p.Gln1223Arg) | gnomAD v4 |
1 | g.197090315T>G | CA344001863 | ASPM | n.2997A>C c.9710A>C (p.Gln3237Pro) c.9932A>C (p.Gln3311Pro) c.9686A>C (p.Gln3229Pro) c.4955A>C (p.Gln1652Pro) c.2705A>C (p.Gln902Pro) c.3668A>C (p.Gln1223Pro) | |
1 | g.197090315T= | CA1217925283 | ASPM | n.2997A= c.9710A= (p.Gln3237=) c.9932A= (p.Gln3311=) c.9686A= (p.Gln3229=) c.4955A= (p.Gln1652=) c.2705A= (p.Gln902=) c.3668A= (p.Gln1223=) | |
1 | g.197090316G>A | CA344001866 | ASPM | n.2996C>T c.9709C>T (p.Gln3237Ter) c.9931C>T (p.Gln3311Ter) c.9685C>T (p.Gln3229Ter) c.4954C>T (p.Gln1652Ter) c.2704C>T (p.Gln902Ter) c.3667C>T (p.Gln1223Ter) | |
1 | g.197090316G>C | CA344001867 | ASPM | n.2996C>G c.9709C>G (p.Gln3237Glu) c.9931C>G (p.Gln3311Glu) c.9685C>G (p.Gln3229Glu) c.4954C>G (p.Gln1652Glu) c.2704C>G (p.Gln902Glu) c.3667C>G (p.Gln1223Glu) | |
1 | g.197090316G>T | CA344001868 | ASPM | n.2996C>A c.9709C>A (p.Gln3237Lys) c.9931C>A (p.Gln3311Lys) c.9685C>A (p.Gln3229Lys) c.4954C>A (p.Gln1652Lys) c.2704C>A (p.Gln902Lys) c.3667C>A (p.Gln1223Lys) | |
1 | g.197090317A>C | CA422672311 | ASPM | n.2995T>G c.9708T>G (p.Leu3236=) c.9930T>G (p.Leu3310=) c.9684T>G (p.Leu3228=) c.4953T>G (p.Leu1651=) c.2703T>G (p.Leu901=) c.3666T>G (p.Leu1222=) | |
1 | g.197090317A>G | CA422672312 | ASPM | n.2995T>C c.9708T>C (p.Leu3236=) c.9930T>C (p.Leu3310=) c.9684T>C (p.Leu3228=) c.4953T>C (p.Leu1651=) c.2703T>C (p.Leu901=) c.3666T>C (p.Leu1222=) | |
1 | g.197090317A>T | CA422672313 | ASPM | n.2995T>A c.9708T>A (p.Leu3236=) c.9930T>A (p.Leu3310=) c.9684T>A (p.Leu3228=) c.4953T>A (p.Leu1651=) c.2703T>A (p.Leu901=) c.3666T>A (p.Leu1222=) | |
1 | g.197090318A>C | CA344001869 | ASPM | n.2994T>G c.9707T>G (p.Leu3236Arg) c.9929T>G (p.Leu3310Arg) c.9683T>G (p.Leu3228Arg) c.4952T>G (p.Leu1651Arg) c.2702T>G (p.Leu901Arg) c.3665T>G (p.Leu1222Arg) | |
1 | g.197090318A>G | CA344001870 | ASPM | n.2994T>C c.9707T>C (p.Leu3236Pro) c.9929T>C (p.Leu3310Pro) c.9683T>C (p.Leu3228Pro) c.4952T>C (p.Leu1651Pro) c.2702T>C (p.Leu901Pro) c.3665T>C (p.Leu1222Pro) | |
1 | g.197090318A>T | CA344001871 | ASPM | n.2994T>A c.9707T>A (p.Leu3236His) c.9929T>A (p.Leu3310His) c.9683T>A (p.Leu3228His) c.4952T>A (p.Leu1651His) c.2702T>A (p.Leu901His) c.3665T>A (p.Leu1222His) | |
1 | g.197090319G>A | CA344001874 | ASPM | n.2993C>T c.9706C>T (p.Leu3236Phe) c.9928C>T (p.Leu3310Phe) c.9682C>T (p.Leu3228Phe) c.4951C>T (p.Leu1651Phe) c.2701C>T (p.Leu901Phe) c.3664C>T (p.Leu1222Phe) | |
1 | g.197090319G>C | CA344001872 | ASPM | n.2993C>G c.9706C>G (p.Leu3236Val) c.9928C>G (p.Leu3310Val) c.9682C>G (p.Leu3228Val) c.4951C>G (p.Leu1651Val) c.2701C>G (p.Leu901Val) c.3664C>G (p.Leu1222Val) | gnomAD v4 |
1 | g.197090319G= | CA1217925285 | ASPM | n.2993C= c.9706C= (p.Leu3236=) c.9928C= (p.Leu3310=) c.9682C= (p.Leu3228=) c.4951C= (p.Leu1651=) c.2701C= (p.Leu901=) c.3664C= (p.Leu1222=) | |
1 | g.197090319G>T | CA344001873 | ASPM | n.2993C>A c.9706C>A (p.Leu3236Ile) c.9928C>A (p.Leu3310Ile) c.9682C>A (p.Leu3228Ile) c.4951C>A (p.Leu1651Ile) c.2701C>A (p.Leu901Ile) c.3664C>A (p.Leu1222Ile) | dbSNP |
1 | g.197090320A>C | CA344001875 | ASPM | n.2992T>G c.9705T>G (p.Ser3235Arg) c.9927T>G (p.Ser3309Arg) c.9681T>G (p.Ser3227Arg) c.4950T>G (p.Ser1650Arg) c.2700T>G (p.Ser900Arg) c.3663T>G (p.Ser1221Arg) | |
1 | g.197090320A>G | CA422672315 | ASPM | n.2992T>C c.9705T>C (p.Ser3235=) c.9927T>C (p.Ser3309=) c.9681T>C (p.Ser3227=) c.4950T>C (p.Ser1650=) c.2700T>C (p.Ser900=) c.3663T>C (p.Ser1221=) | |
1 | g.197090320A>T | CA344001876 | ASPM | n.2992T>A c.9705T>A (p.Ser3235Arg) c.9927T>A (p.Ser3309Arg) c.9681T>A (p.Ser3227Arg) c.4950T>A (p.Ser1650Arg) c.2700T>A (p.Ser900Arg) c.3663T>A (p.Ser1221Arg) | |
1 | g.197090321C>A | CA344001877 | ASPM | n.2991G>T c.9704G>T (p.Ser3235Ile) c.9926G>T (p.Ser3309Ile) c.9680G>T (p.Ser3227Ile) c.4949G>T (p.Ser1650Ile) c.2699G>T (p.Ser900Ile) c.3662G>T (p.Ser1221Ile) | COSMIC |
1 | g.197090321C>G | CA344001878 | ASPM | n.2991G>C c.9704G>C (p.Ser3235Thr) c.9926G>C (p.Ser3309Thr) c.9680G>C (p.Ser3227Thr) c.4949G>C (p.Ser1650Thr) c.2699G>C (p.Ser900Thr) c.3662G>C (p.Ser1221Thr) | |
1 | g.197090321C>T | CA344001879 | ASPM | n.2991G>A c.9704G>A (p.Ser3235Asn) c.9926G>A (p.Ser3309Asn) c.9680G>A (p.Ser3227Asn) c.4949G>A (p.Ser1650Asn) c.2699G>A (p.Ser900Asn) c.3662G>A (p.Ser1221Asn) | gnomAD v4 |
1 | g.197090322T>A | CA344001882 | ASPM | n.2990A>T c.9703A>T (p.Ser3235Cys) c.9925A>T (p.Ser3309Cys) c.9679A>T (p.Ser3227Cys) c.4948A>T (p.Ser1650Cys) c.2698A>T (p.Ser900Cys) c.3661A>T (p.Ser1221Cys) | |
1 | g.197090322T>C | CA344001880 | ASPM | n.2990A>G c.9703A>G (p.Ser3235Gly) c.9925A>G (p.Ser3309Gly) c.9679A>G (p.Ser3227Gly) c.4948A>G (p.Ser1650Gly) c.2698A>G (p.Ser900Gly) c.3661A>G (p.Ser1221Gly) | |
1 | g.197090322T>G | CA344001881 | ASPM | n.2990A>C c.9703A>C (p.Ser3235Arg) c.9925A>C (p.Ser3309Arg) c.9679A>C (p.Ser3227Arg) c.4948A>C (p.Ser1650Arg) c.2698A>C (p.Ser900Arg) c.3661A>C (p.Ser1221Arg) | |
1 | g.197090323T>A | CA422672316 | ASPM | n.2989A>T c.9702A>T (p.Leu3234=) c.9924A>T (p.Leu3308=) c.9678A>T (p.Leu3226=) c.4947A>T (p.Leu1649=) c.2697A>T (p.Leu899=) c.3660A>T (p.Leu1220=) | dbSNP |
1 | g.197090323T>C | CA1308878 | ASPM | n.2989A>G c.9702A>G (p.Leu3234=) c.9924A>G (p.Leu3308=) c.9678A>G (p.Leu3226=) c.4947A>G (p.Leu1649=) c.2697A>G (p.Leu899=) c.3660A>G (p.Leu1220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090323T>G | CA422672317 | ASPM | n.2989A>C c.9702A>C (p.Leu3234=) c.9924A>C (p.Leu3308=) c.9678A>C (p.Leu3226=) c.4947A>C (p.Leu1649=) c.2697A>C (p.Leu899=) c.3660A>C (p.Leu1220=) | |
1 | g.197090323T= | CA1217925286 | ASPM | n.2989A= c.9702A= (p.Leu3234=) c.9924A= (p.Leu3308=) c.9678A= (p.Leu3226=) c.4947A= (p.Leu1649=) c.2697A= (p.Leu899=) c.3660A= (p.Leu1220=) | |
1 | g.197090324A>C | CA344001883 | ASPM | n.2988T>G c.9701T>G (p.Leu3234Arg) c.9923T>G (p.Leu3308Arg) c.9677T>G (p.Leu3226Arg) c.4946T>G (p.Leu1649Arg) c.2696T>G (p.Leu899Arg) c.3659T>G (p.Leu1220Arg) | |
1 | g.197090324A>G | CA344001884 | ASPM | n.2988T>C c.9701T>C (p.Leu3234Pro) c.9923T>C (p.Leu3308Pro) c.9677T>C (p.Leu3226Pro) c.4946T>C (p.Leu1649Pro) c.2696T>C (p.Leu899Pro) c.3659T>C (p.Leu1220Pro) | |
1 | g.197090324A>T | CA344001885 | ASPM | n.2988T>A c.9701T>A (p.Leu3234Gln) c.9923T>A (p.Leu3308Gln) c.9677T>A (p.Leu3226Gln) c.4946T>A (p.Leu1649Gln) c.2696T>A (p.Leu899Gln) c.3659T>A (p.Leu1220Gln) | |
1 | g.197090324dup | CA2649660641 | ASPM | n.2988dup c.9701dup (p.Ser3235LysfsTer6) c.9923dup (p.Ser3309LysfsTer6) c.9677dup (p.Ser3227LysfsTer6) c.4946dup (p.Ser1650LysfsTer6) c.2696dup (p.Ser900LysfsTer6) c.3659dup (p.Ser1221LysfsTer6) | gnomAD v4 |
1 | g.197090325G>A | CA422672318 | ASPM | n.2987C>T c.9700C>T (p.Leu3234=) c.9922C>T (p.Leu3308=) c.9676C>T (p.Leu3226=) c.4945C>T (p.Leu1649=) c.2695C>T (p.Leu899=) c.3658C>T (p.Leu1220=) | |
1 | g.197090325G>C | CA344001886 | ASPM | n.2987C>G c.9700C>G (p.Leu3234Val) c.9922C>G (p.Leu3308Val) c.9676C>G (p.Leu3226Val) c.4945C>G (p.Leu1649Val) c.2695C>G (p.Leu899Val) c.3658C>G (p.Leu1220Val) | |
1 | g.197090325G>T | CA344001887 | ASPM | n.2987C>A c.9700C>A (p.Leu3234Ile) c.9922C>A (p.Leu3308Ile) c.9676C>A (p.Leu3226Ile) c.4945C>A (p.Leu1649Ile) c.2695C>A (p.Leu899Ile) c.3658C>A (p.Leu1220Ile) | |
1 | g.197090326T>A | CA422672322 | ASPM | n.2986A>T c.9699A>T (p.Arg3233=) c.9921A>T (p.Arg3307=) c.9675A>T (p.Arg3225=) c.4944A>T (p.Arg1648=) c.2694A>T (p.Arg898=) c.3657A>T (p.Arg1219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090326T>C | CA422672321 | ASPM | n.2986A>G c.9699A>G (p.Arg3233=) c.9921A>G (p.Arg3307=) c.9675A>G (p.Arg3225=) c.4944A>G (p.Arg1648=) c.2694A>G (p.Arg898=) c.3657A>G (p.Arg1219=) | |
1 | g.197090326T>G | CA422672319 | ASPM | n.2986A>C c.9699A>C (p.Arg3233=) c.9921A>C (p.Arg3307=) c.9675A>C (p.Arg3225=) c.4944A>C (p.Arg1648=) c.2694A>C (p.Arg898=) c.3657A>C (p.Arg1219=) | |
1 | g.197090326T= | CA1217925287 | ASPM | n.2986A= c.9699A= (p.Arg3233=) c.9921A= (p.Arg3307=) c.9675A= (p.Arg3225=) c.4944A= (p.Arg1648=) c.2694A= (p.Arg898=) c.3657A= (p.Arg1219=) | |
1 | g.197090327C>A | CA344001889 | ASPM | n.2985G>T c.9698G>T (p.Arg3233Leu) c.9920G>T (p.Arg3307Leu) c.9674G>T (p.Arg3225Leu) c.4943G>T (p.Arg1648Leu) c.2693G>T (p.Arg898Leu) c.3656G>T (p.Arg1219Leu) | gnomAD v4 |
1 | g.197090327C= | CA1217925291 | ASPM | n.2985G= c.9698G= (p.Arg3233=) c.9920G= (p.Arg3307=) c.9674G= (p.Arg3225=) c.4943G= (p.Arg1648=) c.2693G= (p.Arg898=) c.3656G= (p.Arg1219=) | |
1 | g.197090327C>G | CA344001888 | ASPM | n.2985G>C c.9698G>C (p.Arg3233Pro) c.9920G>C (p.Arg3307Pro) c.9674G>C (p.Arg3225Pro) c.4943G>C (p.Arg1648Pro) c.2693G>C (p.Arg898Pro) c.3656G>C (p.Arg1219Pro) | |
1 | g.197090327C>T | CA35862002 | ASPM | n.2985G>A c.9698G>A (p.Arg3233Gln) c.9920G>A (p.Arg3307Gln) c.9674G>A (p.Arg3225Gln) c.4943G>A (p.Arg1648Gln) c.2693G>A (p.Arg898Gln) c.3656G>A (p.Arg1219Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.197090328G>A | CA342307 | ASPM | n.2984C>T c.9697C>T (p.Arg3233Ter) c.9919C>T (p.Arg3307Ter) c.9673C>T (p.Arg3225Ter) c.4942C>T (p.Arg1648Ter) c.2692C>T (p.Arg898Ter) c.3655C>T (p.Arg1219Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090328G>C | CA344001890 | ASPM | n.2984C>G c.9697C>G (p.Arg3233Gly) c.9919C>G (p.Arg3307Gly) c.9673C>G (p.Arg3225Gly) c.4942C>G (p.Arg1648Gly) c.2692C>G (p.Arg898Gly) c.3655C>G (p.Arg1219Gly) | |
1 | g.197090328G= | CA1143355786 | ASPM | n.2984C= c.9697C= (p.Arg3233=) c.9919C= (p.Arg3307=) c.9673C= (p.Arg3225=) c.4942C= (p.Arg1648=) c.2692C= (p.Arg898=) c.3655C= (p.Arg1219=) | |
1 | g.197090328G>T | CA422672323 | ASPM | n.2984C>A c.9697C>A (p.Arg3233=) c.9919C>A (p.Arg3307=) c.9673C>A (p.Arg3225=) c.4942C>A (p.Arg1648=) c.2692C>A (p.Arg898=) c.3655C>A (p.Arg1219=) | gnomAD v4 |
1 | g.197090329T>A | CA422672325 | ASPM | n.2983A>T c.9696A>T (p.Ile3232=) c.9918A>T (p.Ile3306=) c.9672A>T (p.Ile3224=) c.4941A>T (p.Ile1647=) c.2691A>T (p.Ile897=) c.3654A>T (p.Ile1218=) | |
1 | g.197090329T>C | CA344001891 | ASPM | n.2983A>G c.9696A>G (p.Ile3232Met) c.9918A>G (p.Ile3306Met) c.9672A>G (p.Ile3224Met) c.4941A>G (p.Ile1647Met) c.2691A>G (p.Ile897Met) c.3654A>G (p.Ile1218Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090329T>G | CA422672327 | ASPM | n.2983A>C c.9696A>C (p.Ile3232=) c.9918A>C (p.Ile3306=) c.9672A>C (p.Ile3224=) c.4941A>C (p.Ile1647=) c.2691A>C (p.Ile897=) c.3654A>C (p.Ile1218=) | |
1 | g.197090329T= | CA1217925295 | ASPM | n.2983A= c.9696A= (p.Ile3232=) c.9918A= (p.Ile3306=) c.9672A= (p.Ile3224=) c.4941A= (p.Ile1647=) c.2691A= (p.Ile897=) c.3654A= (p.Ile1218=) | |
1 | g.197090330A= | CA1217925296 | ASPM | n.2982T= c.9695T= (p.Ile3232=) c.9917T= (p.Ile3306=) c.9671T= (p.Ile3224=) c.4940T= (p.Ile1647=) c.2690T= (p.Ile897=) c.3653T= (p.Ile1218=) | |
1 | g.197090330A>C | CA344001892 | ASPM | n.2982T>G c.9695T>G (p.Ile3232Arg) c.9917T>G (p.Ile3306Arg) c.9671T>G (p.Ile3224Arg) c.4940T>G (p.Ile1647Arg) c.2690T>G (p.Ile897Arg) c.3653T>G (p.Ile1218Arg) | |
1 | g.197090330A>G | CA1308879 | ASPM | n.2982T>C c.9695T>C (p.Ile3232Thr) c.9917T>C (p.Ile3306Thr) c.9671T>C (p.Ile3224Thr) c.4940T>C (p.Ile1647Thr) c.2690T>C (p.Ile897Thr) c.3653T>C (p.Ile1218Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090330A>T | CA344001893 | ASPM | n.2982T>A c.9695T>A (p.Ile3232Lys) c.9917T>A (p.Ile3306Lys) c.9671T>A (p.Ile3224Lys) c.4940T>A (p.Ile1647Lys) c.2690T>A (p.Ile897Lys) c.3653T>A (p.Ile1218Lys) | |
1 | g.197090331T>A | CA344001894 | ASPM | n.2981A>T c.9694A>T (p.Ile3232Leu) c.9916A>T (p.Ile3306Leu) c.9670A>T (p.Ile3224Leu) c.4939A>T (p.Ile1647Leu) c.2689A>T (p.Ile897Leu) c.3652A>T (p.Ile1218Leu) | |
1 | g.197090331T>C | CA1308880 | ASPM | n.2981A>G c.9694A>G (p.Ile3232Val) c.9916A>G (p.Ile3306Val) c.9670A>G (p.Ile3224Val) c.4939A>G (p.Ile1647Val) c.2689A>G (p.Ile897Val) c.3652A>G (p.Ile1218Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090331T>G | CA344001895 | ASPM | n.2981A>C c.9694A>C (p.Ile3232Leu) c.9916A>C (p.Ile3306Leu) c.9670A>C (p.Ile3224Leu) c.4939A>C (p.Ile1647Leu) c.2689A>C (p.Ile897Leu) c.3652A>C (p.Ile1218Leu) | |
1 | g.197090331T= | CA1217925297 | ASPM | n.2981A= c.9694A= (p.Ile3232=) c.9916A= (p.Ile3306=) c.9670A= (p.Ile3224=) c.4939A= (p.Ile1647=) c.2689A= (p.Ile897=) c.3652A= (p.Ile1218=) | |
1 | g.197090332A>C | CA422672329 | ASPM | n.2980T>G c.9693T>G (p.Ala3231=) c.9915T>G (p.Ala3305=) c.9669T>G (p.Ala3223=) c.4938T>G (p.Ala1646=) c.2688T>G (p.Ala896=) c.3651T>G (p.Ala1217=) | |
1 | g.197090332A>G | CA422672330 | ASPM | n.2980T>C c.9693T>C (p.Ala3231=) c.9915T>C (p.Ala3305=) c.9669T>C (p.Ala3223=) c.4938T>C (p.Ala1646=) c.2688T>C (p.Ala896=) c.3651T>C (p.Ala1217=) | gnomAD v4 |
1 | g.197090332A>T | CA422672331 | ASPM | n.2980T>A c.9693T>A (p.Ala3231=) c.9915T>A (p.Ala3305=) c.9669T>A (p.Ala3223=) c.4938T>A (p.Ala1646=) c.2688T>A (p.Ala896=) c.3651T>A (p.Ala1217=) | |
1 | g.197090333G>A | CA344001896 | ASPM | n.2979C>T c.9692C>T (p.Ala3231Val) c.9914C>T (p.Ala3305Val) c.9668C>T (p.Ala3223Val) c.4937C>T (p.Ala1646Val) c.2687C>T (p.Ala896Val) c.3650C>T (p.Ala1217Val) | |
1 | g.197090333G>C | CA344001897 | ASPM | n.2979C>G c.9692C>G (p.Ala3231Gly) c.9914C>G (p.Ala3305Gly) c.9668C>G (p.Ala3223Gly) c.4937C>G (p.Ala1646Gly) c.2687C>G (p.Ala896Gly) c.3650C>G (p.Ala1217Gly) | |
1 | g.197090333G>T | CA344001898 | ASPM | n.2979C>A c.9692C>A (p.Ala3231Asp) c.9914C>A (p.Ala3305Asp) c.9668C>A (p.Ala3223Asp) c.4937C>A (p.Ala1646Asp) c.2687C>A (p.Ala896Asp) c.3650C>A (p.Ala1217Asp) | |
1 | g.197090334C>A | CA344001899 | ASPM | n.2978G>T c.9691G>T (p.Ala3231Ser) c.9913G>T (p.Ala3305Ser) c.9667G>T (p.Ala3223Ser) c.4936G>T (p.Ala1646Ser) c.2686G>T (p.Ala896Ser) c.3649G>T (p.Ala1217Ser) | COSMIC |
1 | g.197090334C>G | CA344001900 | ASPM | n.2978G>C c.9691G>C (p.Ala3231Pro) c.9913G>C (p.Ala3305Pro) c.9667G>C (p.Ala3223Pro) c.4936G>C (p.Ala1646Pro) c.2686G>C (p.Ala896Pro) c.3649G>C (p.Ala1217Pro) | |
1 | g.197090334C>T | CA344001901 | ASPM | n.2978G>A c.9691G>A (p.Ala3231Thr) c.9913G>A (p.Ala3305Thr) c.9667G>A (p.Ala3223Thr) c.4936G>A (p.Ala1646Thr) c.2686G>A (p.Ala896Thr) c.3649G>A (p.Ala1217Thr) | |
1 | g.197090334_197090339delinsCTTTAA | CA1217925299 | ASPM | n.2973_2978delinsTTAAAG c.9686_9691delinsTTAAAG (p.Ile3229=) c.9908_9913delinsTTAAAG (p.Ile3303=) c.9662_9667delinsTTAAAG (p.Ile3221=) c.4931_4936delinsTTAAAG (p.Ile1644=) c.2681_2686delinsTTAAAG (p.Ile894=) c.3644_3649delinsTTAAAG (p.Ile1215=) | |
1 | g.197090335T>A | CA344001902 | ASPM | n.2977A>T c.9690A>T (p.Lys3230Asn) c.9912A>T (p.Lys3304Asn) c.9666A>T (p.Lys3222Asn) c.4935A>T (p.Lys1645Asn) c.2685A>T (p.Lys895Asn) c.3648A>T (p.Lys1216Asn) | |
1 | g.197090335T>C | CA422672332 | ASPM | n.2977A>G c.9690A>G (p.Lys3230=) c.9912A>G (p.Lys3304=) c.9666A>G (p.Lys3222=) c.4935A>G (p.Lys1645=) c.2685A>G (p.Lys895=) c.3648A>G (p.Lys1216=) | |
1 | g.197090335T>G | CA344001903 | ASPM | n.2977A>C c.9690A>C (p.Lys3230Asn) c.9912A>C (p.Lys3304Asn) c.9666A>C (p.Lys3222Asn) c.4935A>C (p.Lys1645Asn) c.2685A>C (p.Lys895Asn) c.3648A>C (p.Lys1216Asn) | |
1 | g.197090335_197090342delinsTTTAATTT | CA1143355787 | ASPM | n.2970_2977delinsAAATTAAA c.9683_9690delinsAAATTAAA (p.Lys3228=) c.9905_9912delinsAAATTAAA (p.Lys3302=) c.9659_9666delinsAAATTAAA (p.Lys3220=) c.4928_4935delinsAAATTAAA (p.Lys1643=) c.2678_2685delinsAAATTAAA (p.Lys893=) c.3641_3648delinsAAATTAAA (p.Lys1214=) | |
1 | g.197090338_197090342del | CA342306 | ASPM | n.2973_2977del c.9686_9690del (p.Ile3229SerfsTer10) c.9908_9912del (p.Ile3303SerfsTer10) c.9662_9666del (p.Ile3221SerfsTer10) c.4931_4935del (p.Ile1644SerfsTer10) c.2681_2685del (p.Ile894SerfsTer10) c.3644_3648del (p.Ile1215SerfsTer10) | ClinVar dbSNP gnomAD v4 |
1 | g.197090338_197090343dup | CA2649660642 | ASPM | n.2972_2977dup c.9685_9690dup (p.Lys3230_Ala3231insIleLys) c.9907_9912dup (p.Lys3304_Ala3305insIleLys) c.9661_9666dup (p.Lys3222_Ala3223insIleLys) c.4930_4935dup (p.Lys1645_Ala1646insIleLys) c.2680_2685dup (p.Lys895_Ala896insIleLys) c.3643_3648dup (p.Lys1216_Ala1217insIleLys) | gnomAD v4 |
1 | g.197090336T>A | CA344001904 | ASPM | n.2976A>T c.9689A>T (p.Lys3230Ile) c.9911A>T (p.Lys3304Ile) c.9665A>T (p.Lys3222Ile) c.4934A>T (p.Lys1645Ile) c.2684A>T (p.Lys895Ile) c.3647A>T (p.Lys1216Ile) | |
1 | g.197090336T>C | CA344001905 | ASPM | n.2976A>G c.9689A>G (p.Lys3230Arg) c.9911A>G (p.Lys3304Arg) c.9665A>G (p.Lys3222Arg) c.4934A>G (p.Lys1645Arg) c.2684A>G (p.Lys895Arg) c.3647A>G (p.Lys1216Arg) | |
1 | g.197090336T>G | CA344001906 | ASPM | n.2976A>C c.9689A>C (p.Lys3230Thr) c.9911A>C (p.Lys3304Thr) c.9665A>C (p.Lys3222Thr) c.4934A>C (p.Lys1645Thr) c.2684A>C (p.Lys895Thr) c.3647A>C (p.Lys1216Thr) | |
1 | g.197090337T>A | CA344001909 | ASPM | n.2975A>T c.9688A>T (p.Lys3230Ter) c.9910A>T (p.Lys3304Ter) c.9664A>T (p.Lys3222Ter) c.4933A>T (p.Lys1645Ter) c.2683A>T (p.Lys895Ter) c.3646A>T (p.Lys1216Ter) | |
1 | g.197090337T>C | CA344001907 | ASPM | n.2975A>G c.9688A>G (p.Lys3230Glu) c.9910A>G (p.Lys3304Glu) c.9664A>G (p.Lys3222Glu) c.4933A>G (p.Lys1645Glu) c.2683A>G (p.Lys895Glu) c.3646A>G (p.Lys1216Glu) | |
1 | g.197090337T>G | CA344001908 | ASPM | n.2975A>C c.9688A>C (p.Lys3230Gln) c.9910A>C (p.Lys3304Gln) c.9664A>C (p.Lys3222Gln) c.4933A>C (p.Lys1645Gln) c.2683A>C (p.Lys895Gln) c.3646A>C (p.Lys1216Gln) | |
1 | g.197090338A>C | CA344001910 | ASPM | n.2974T>G c.9687T>G (p.Ile3229Met) c.9909T>G (p.Ile3303Met) c.9663T>G (p.Ile3221Met) c.4932T>G (p.Ile1644Met) c.2682T>G (p.Ile894Met) c.3645T>G (p.Ile1215Met) | |
1 | g.197090338A>G | CA422672334 | ASPM | n.2974T>C c.9687T>C (p.Ile3229=) c.9909T>C (p.Ile3303=) c.9663T>C (p.Ile3221=) c.4932T>C (p.Ile1644=) c.2682T>C (p.Ile894=) c.3645T>C (p.Ile1215=) | |
1 | g.197090338A>T | CA422672335 | ASPM | n.2974T>A c.9687T>A (p.Ile3229=) c.9909T>A (p.Ile3303=) c.9663T>A (p.Ile3221=) c.4932T>A (p.Ile1644=) c.2682T>A (p.Ile894=) c.3645T>A (p.Ile1215=) | |
1 | g.197090339A= | CA1217925301 | ASPM | n.2973T= c.9686T= (p.Ile3229=) c.9908T= (p.Ile3303=) c.9662T= (p.Ile3221=) c.4931T= (p.Ile1644=) c.2681T= (p.Ile894=) c.3644T= (p.Ile1215=) | |
1 | g.197090339A>C | CA344001911 | ASPM | n.2973T>G c.9686T>G (p.Ile3229Ser) c.9908T>G (p.Ile3303Ser) c.9662T>G (p.Ile3221Ser) c.4931T>G (p.Ile1644Ser) c.2681T>G (p.Ile894Ser) c.3644T>G (p.Ile1215Ser) | |
1 | g.197090339A>G | CA344001912 | ASPM | n.2973T>C c.9686T>C (p.Ile3229Thr) c.9908T>C (p.Ile3303Thr) c.9662T>C (p.Ile3221Thr) c.4931T>C (p.Ile1644Thr) c.2681T>C (p.Ile894Thr) c.3644T>C (p.Ile1215Thr) | |
1 | g.197090339A>T | CA344001913 | ASPM | n.2973T>A c.9686T>A (p.Ile3229Asn) c.9908T>A (p.Ile3303Asn) c.9662T>A (p.Ile3221Asn) c.4931T>A (p.Ile1644Asn) c.2681T>A (p.Ile894Asn) c.3644T>A (p.Ile1215Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090339_197090340delinsAT | CA1217925302 | ASPM | n.2972_2973delinsAT c.9685_9686delinsAT (p.Ile3229=) c.9907_9908delinsAT (p.Ile3303=) c.9661_9662delinsAT (p.Ile3221=) c.4930_4931delinsAT (p.Ile1644=) c.2680_2681delinsAT (p.Ile894=) c.3643_3644delinsAT (p.Ile1215=) | |
1 | g.197090339_197090340insAACACCTAGGTTAG | CA1217925305 | ASPM | n.2972_2973insCTAACCTAGGTGTT c.9685_9686insCTAACCTAGGTGTT (p.Ile3229ThrfsTer11) c.9907_9908insCTAACCTAGGTGTT (p.Ile3303ThrfsTer11) c.9661_9662insCTAACCTAGGTGTT (p.Ile3221ThrfsTer11) c.4930_4931insCTAACCTAGGTGTT (p.Ile1644ThrfsTer11) c.2680_2681insCTAACCTAGGTGTT (p.Ile894ThrfsTer11) c.3643_3644insCTAACCTAGGTGTT (p.Ile1215ThrfsTer11) | dbSNP |
1 | g.197090340T>A | CA344001914 | ASPM | n.2972A>T c.9685A>T (p.Ile3229Phe) c.9907A>T (p.Ile3303Phe) c.9661A>T (p.Ile3221Phe) c.4930A>T (p.Ile1644Phe) c.2680A>T (p.Ile894Phe) c.3643A>T (p.Ile1215Phe) | |
1 | g.197090340T>C | CA344001915 | ASPM | n.2972A>G c.9685A>G (p.Ile3229Val) c.9907A>G (p.Ile3303Val) c.9661A>G (p.Ile3221Val) c.4930A>G (p.Ile1644Val) c.2680A>G (p.Ile894Val) c.3643A>G (p.Ile1215Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090340T>G | CA344001916 | ASPM | n.2972A>C c.9685A>C (p.Ile3229Leu) c.9907A>C (p.Ile3303Leu) c.9661A>C (p.Ile3221Leu) c.4930A>C (p.Ile1644Leu) c.2680A>C (p.Ile894Leu) c.3643A>C (p.Ile1215Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090340T= | CA1217925307 | ASPM | n.2972A= c.9685A= (p.Ile3229=) c.9907A= (p.Ile3303=) c.9661A= (p.Ile3221=) c.4930A= (p.Ile1644=) c.2680A= (p.Ile894=) c.3643A= (p.Ile1215=) | |
1 | g.197090340_197090344delinsTTTTT | CA1143355788 | ASPM | n.2968_2972delinsAAAAA c.9681_9685delinsAAAAA (p.Thr3227=) c.9903_9907delinsAAAAA (p.Thr3301=) c.9657_9661delinsAAAAA (p.Thr3219=) c.4926_4930delinsAAAAA (p.Thr1642=) c.2676_2680delinsAAAAA (p.Thr892=) c.3639_3643delinsAAAAA (p.Thr1213=) | |
1 | g.197090344del | CA342305 | ASPM | n.2972del c.9685del (p.Ile3229LeufsTer6) c.9907del (p.Ile3303LeufsTer6) c.9661del (p.Ile3221LeufsTer6) c.4930del (p.Ile1644LeufsTer6) c.2680del (p.Ile894LeufsTer6) c.3643del (p.Ile1215LeufsTer6) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.197090341T>A | CA344001917 | ASPM | n.2971A>T c.9684A>T (p.Lys3228Asn) c.9906A>T (p.Lys3302Asn) c.9660A>T (p.Lys3220Asn) c.4929A>T (p.Lys1643Asn) c.2679A>T (p.Lys893Asn) c.3642A>T (p.Lys1214Asn) | |
1 | g.197090341T>C | CA422672339 | ASPM | n.2971A>G c.9684A>G (p.Lys3228=) c.9906A>G (p.Lys3302=) c.9660A>G (p.Lys3220=) c.4929A>G (p.Lys1643=) c.2679A>G (p.Lys893=) c.3642A>G (p.Lys1214=) | |
1 | g.197090341T>G | CA344001918 | ASPM | n.2971A>C c.9684A>C (p.Lys3228Asn) c.9906A>C (p.Lys3302Asn) c.9660A>C (p.Lys3220Asn) c.4929A>C (p.Lys1643Asn) c.2679A>C (p.Lys893Asn) c.3642A>C (p.Lys1214Asn) | |
1 | g.197090342T>A | CA344001919 | ASPM | n.2970A>T c.9683A>T (p.Lys3228Ile) c.9905A>T (p.Lys3302Ile) c.9659A>T (p.Lys3220Ile) c.4928A>T (p.Lys1643Ile) c.2678A>T (p.Lys893Ile) c.3641A>T (p.Lys1214Ile) | |
1 | g.197090342T>C | CA344001920 | ASPM | n.2970A>G c.9683A>G (p.Lys3228Arg) c.9905A>G (p.Lys3302Arg) c.9659A>G (p.Lys3220Arg) c.4928A>G (p.Lys1643Arg) c.2678A>G (p.Lys893Arg) c.3641A>G (p.Lys1214Arg) | |
1 | g.197090342T>G | CA344001921 | ASPM | n.2970A>C c.9683A>C (p.Lys3228Thr) c.9905A>C (p.Lys3302Thr) c.9659A>C (p.Lys3220Thr) c.4928A>C (p.Lys1643Thr) c.2678A>C (p.Lys893Thr) c.3641A>C (p.Lys1214Thr) | |
1 | g.197090343T>A | CA344001925 | ASPM | n.2969A>T c.9682A>T (p.Lys3228Ter) c.9904A>T (p.Lys3302Ter) c.9658A>T (p.Lys3220Ter) c.4927A>T (p.Lys1643Ter) c.2677A>T (p.Lys893Ter) c.3640A>T (p.Lys1214Ter) | |
1 | g.197090343T>C | CA344001923 | ASPM | n.2969A>G c.9682A>G (p.Lys3228Glu) c.9904A>G (p.Lys3302Glu) c.9658A>G (p.Lys3220Glu) c.4927A>G (p.Lys1643Glu) c.2677A>G (p.Lys893Glu) c.3640A>G (p.Lys1214Glu) | ClinVar dbSNP |
1 | g.197090343T>G | CA344001922 | ASPM | n.2969A>C c.9682A>C (p.Lys3228Gln) c.9904A>C (p.Lys3302Gln) c.9658A>C (p.Lys3220Gln) c.4927A>C (p.Lys1643Gln) c.2677A>C (p.Lys893Gln) c.3640A>C (p.Lys1214Gln) | COSMIC |
1 | g.197090343T= | CA1217925311 | ASPM | n.2969A= c.9682A= (p.Lys3228=) c.9904A= (p.Lys3302=) c.9658A= (p.Lys3220=) c.4927A= (p.Lys1643=) c.2677A= (p.Lys893=) c.3640A= (p.Lys1214=) | |
1 | g.197090344T>A | CA422672340 | ASPM | n.2968A>T c.9681A>T (p.Thr3227=) c.9903A>T (p.Thr3301=) c.9657A>T (p.Thr3219=) c.4926A>T (p.Thr1642=) c.2676A>T (p.Thr892=) c.3639A>T (p.Thr1213=) | |
1 | g.197090344T>C | CA35862011 | ASPM | n.2968A>G c.9681A>G (p.Thr3227=) c.9903A>G (p.Thr3301=) c.9657A>G (p.Thr3219=) c.4926A>G (p.Thr1642=) c.2676A>G (p.Thr892=) c.3639A>G (p.Thr1213=) | dbSNP |
1 | g.197090344T>G | CA422672341 | ASPM | n.2968A>C c.9681A>C (p.Thr3227=) c.9903A>C (p.Thr3301=) c.9657A>C (p.Thr3219=) c.4926A>C (p.Thr1642=) c.2676A>C (p.Thr892=) c.3639A>C (p.Thr1213=) | |
1 | g.197090344T= | CA1217925313 | ASPM | n.2968A= c.9681A= (p.Thr3227=) c.9903A= (p.Thr3301=) c.9657A= (p.Thr3219=) c.4926A= (p.Thr1642=) c.2676A= (p.Thr892=) c.3639A= (p.Thr1213=) | |
1 | g.197090345G>A | CA344001926 | ASPM | n.2967C>T c.9680C>T (p.Thr3227Ile) c.9902C>T (p.Thr3301Ile) c.9656C>T (p.Thr3219Ile) c.4925C>T (p.Thr1642Ile) c.2675C>T (p.Thr892Ile) c.3638C>T (p.Thr1213Ile) | |
1 | g.197090345G>C | CA344001927 | ASPM | n.2967C>G c.9680C>G (p.Thr3227Arg) c.9902C>G (p.Thr3301Arg) c.9656C>G (p.Thr3219Arg) c.4925C>G (p.Thr1642Arg) c.2675C>G (p.Thr892Arg) c.3638C>G (p.Thr1213Arg) | |
1 | g.197090345G>T | CA344001928 | ASPM | n.2967C>A c.9680C>A (p.Thr3227Lys) c.9902C>A (p.Thr3301Lys) c.9656C>A (p.Thr3219Lys) c.4925C>A (p.Thr1642Lys) c.2675C>A (p.Thr892Lys) c.3638C>A (p.Thr1213Lys) | |
1 | g.197090345_197090346insATTTAGTTCTTCTATTGGTTCTAT | CA2525478832 | ASPM | n.2966_2967insATAGAACCAATAGAAGAACTAAAT c.9679_9680insATAGAACCAATAGAAGAACTAAAT (p.Thr3227delinsAsnArgThrAsnArgArgThrLysSer) c.9901_9902insATAGAACCAATAGAAGAACTAAAT (p.Thr3301delinsAsnArgThrAsnArgArgThrLysSer) c.9655_9656insATAGAACCAATAGAAGAACTAAAT (p.Thr3219delinsAsnArgThrAsnArgArgThrLysSer) c.4924_4925insATAGAACCAATAGAAGAACTAAAT (p.Thr1642delinsAsnArgThrAsnArgArgThrLysSer) c.2674_2675insATAGAACCAATAGAAGAACTAAAT (p.Thr892delinsAsnArgThrAsnArgArgThrLysSer) c.3637_3638insATAGAACCAATAGAAGAACTAAAT (p.Thr1213delinsAsnArgThrAsnArgArgThrLysSer) | |
1 | g.197090346T>A | CA344001929 | ASPM | n.2966A>T c.9679A>T (p.Thr3227Ser) c.9901A>T (p.Thr3301Ser) c.9655A>T (p.Thr3219Ser) c.4924A>T (p.Thr1642Ser) c.2674A>T (p.Thr892Ser) c.3637A>T (p.Thr1213Ser) | |
1 | g.197090346T>C | CA344001930 | ASPM | n.2966A>G c.9679A>G (p.Thr3227Ala) c.9901A>G (p.Thr3301Ala) c.9655A>G (p.Thr3219Ala) c.4924A>G (p.Thr1642Ala) c.2674A>G (p.Thr892Ala) c.3637A>G (p.Thr1213Ala) | gnomAD v4 |
1 | g.197090346T>G | CA35862017 | ASPM | n.2966A>C c.9679A>C (p.Thr3227Pro) c.9901A>C (p.Thr3301Pro) c.9655A>C (p.Thr3219Pro) c.4924A>C (p.Thr1642Pro) c.2674A>C (p.Thr892Pro) c.3637A>C (p.Thr1213Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090346T= | CA1217925315 | ASPM | n.2966A= c.9679A= (p.Thr3227=) c.9901A= (p.Thr3301=) c.9655A= (p.Thr3219=) c.4924A= (p.Thr1642=) c.2674A= (p.Thr892=) c.3637A= (p.Thr1213=) | |
1 | g.197090347A= | CA1217925317 | ASPM | n.2965T= c.9678T= (p.Cys3226=) c.9900T= (p.Cys3300=) c.9654T= (p.Cys3218=) c.4923T= (p.Cys1641=) c.2673T= (p.Cys891=) c.3636T= (p.Cys1212=) | |
1 | g.197090347A>C | CA344001931 | ASPM | n.2965T>G c.9678T>G (p.Cys3226Trp) c.9900T>G (p.Cys3300Trp) c.9654T>G (p.Cys3218Trp) c.4923T>G (p.Cys1641Trp) c.2673T>G (p.Cys891Trp) c.3636T>G (p.Cys1212Trp) | |
1 | g.197090347A>G | CA422672343 | ASPM | n.2965T>C c.9678T>C (p.Cys3226=) c.9900T>C (p.Cys3300=) c.9654T>C (p.Cys3218=) c.4923T>C (p.Cys1641=) c.2673T>C (p.Cys891=) c.3636T>C (p.Cys1212=) | gnomAD v4 |
1 | g.197090347A>T | CA344001932 | ASPM | n.2965T>A c.9678T>A (p.Cys3226Ter) c.9900T>A (p.Cys3300Ter) c.9654T>A (p.Cys3218Ter) c.4923T>A (p.Cys1641Ter) c.2673T>A (p.Cys891Ter) c.3636T>A (p.Cys1212Ter) | |
1 | g.197090348C>A | CA35862025 | ASPM | n.2964G>T c.9677G>T (p.Cys3226Phe) c.9899G>T (p.Cys3300Phe) c.9653G>T (p.Cys3218Phe) c.4922G>T (p.Cys1641Phe) c.2672G>T (p.Cys891Phe) c.3635G>T (p.Cys1212Phe) | dbSNP gnomAD v4 |
1 | g.197090348C= | CA1142364457 | ASPM | n.2964G= c.9677G= (p.Cys3226=) c.9899G= (p.Cys3300=) c.9653G= (p.Cys3218=) c.4922G= (p.Cys1641=) c.2672G= (p.Cys891=) c.3635G= (p.Cys1212=) | |
1 | g.197090348C>G | CA344001933 | ASPM | n.2964G>C c.9677G>C (p.Cys3226Ser) c.9899G>C (p.Cys3300Ser) c.9653G>C (p.Cys3218Ser) c.4922G>C (p.Cys1641Ser) c.2672G>C (p.Cys891Ser) c.3635G>C (p.Cys1212Ser) | |
1 | g.197090348C>T | CA344001934 | ASPM | n.2964G>A c.9677G>A (p.Cys3226Tyr) c.9899G>A (p.Cys3300Tyr) c.9653G>A (p.Cys3218Tyr) c.4922G>A (p.Cys1641Tyr) c.2672G>A (p.Cys891Tyr) c.3635G>A (p.Cys1212Tyr) | gnomAD v4 |
1 | g.197090348dup | CA342304 | ASPM | n.2964dup c.9677dup (p.Cys3226TrpfsTer5) c.9899dup (p.Cys3300TrpfsTer5) c.9653dup (p.Cys3218TrpfsTer5) c.4922dup (p.Cys1641TrpfsTer5) c.2672dup (p.Cys891TrpfsTer5) c.3635dup (p.Cys1212TrpfsTer5) | ClinVar dbSNP |
1 | g.197090350_197090353del | CA2649660643 | ASPM | n.2961_2964del c.9674_9677del (p.Asp3225ValfsTer9) c.9896_9899del (p.Asp3299ValfsTer9) c.9650_9653del (p.Asp3217ValfsTer9) c.4919_4922del (p.Asp1640ValfsTer9) c.2669_2672del (p.Asp890ValfsTer9) c.3632_3635del (p.Asp1211ValfsTer9) | gnomAD v4 |
1 | g.197090349A= | CA1141896007 | ASPM | n.2963T= c.9676T= (p.Cys3226=) c.9898T= (p.Cys3300=) c.9652T= (p.Cys3218=) c.4921T= (p.Cys1641=) c.2671T= (p.Cys891=) c.3634T= (p.Cys1212=) | |
1 | g.197090349A>C | CA1308881 | ASPM | n.2963T>G c.9676T>G (p.Cys3226Gly) c.9898T>G (p.Cys3300Gly) c.9652T>G (p.Cys3218Gly) c.4921T>G (p.Cys1641Gly) c.2671T>G (p.Cys891Gly) c.3634T>G (p.Cys1212Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090349A>G | CA344001935 | ASPM | n.2963T>C c.9676T>C (p.Cys3226Arg) c.9898T>C (p.Cys3300Arg) c.9652T>C (p.Cys3218Arg) c.4921T>C (p.Cys1641Arg) c.2671T>C (p.Cys891Arg) c.3634T>C (p.Cys1212Arg) | gnomAD v4 |
1 | g.197090349A>T | CA344001936 | ASPM | n.2963T>A c.9676T>A (p.Cys3226Ser) c.9898T>A (p.Cys3300Ser) c.9652T>A (p.Cys3218Ser) c.4921T>A (p.Cys1641Ser) c.2671T>A (p.Cys891Ser) c.3634T>A (p.Cys1212Ser) | |
1 | g.197090350A= | CA1148878277 | ASPM | n.2962T= c.9675T= (p.Asp3225=) c.9897T= (p.Asp3299=) c.9651T= (p.Asp3217=) c.4920T= (p.Asp1640=) c.2670T= (p.Asp890=) c.3633T= (p.Asp1211=) | |
1 | g.197090350A>C | CA344001937 | ASPM | n.2962T>G c.9675T>G (p.Asp3225Glu) c.9897T>G (p.Asp3299Glu) c.9651T>G (p.Asp3217Glu) c.4920T>G (p.Asp1640Glu) c.2670T>G (p.Asp890Glu) c.3633T>G (p.Asp1211Glu) | gnomAD v4 |
1 | g.197090350A>G | CA35862030 | ASPM | n.2962T>C c.9675T>C (p.Asp3225=) c.9897T>C (p.Asp3299=) c.9651T>C (p.Asp3217=) c.4920T>C (p.Asp1640=) c.2670T>C (p.Asp890=) c.3633T>C (p.Asp1211=) | ClinVar dbSNP gnomAD v4 |
1 | g.197090350A>T | CA1308882 | ASPM | n.2962T>A c.9675T>A (p.Asp3225Glu) c.9897T>A (p.Asp3299Glu) c.9651T>A (p.Asp3217Glu) c.4920T>A (p.Asp1640Glu) c.2670T>A (p.Asp890Glu) c.3633T>A (p.Asp1211Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090351T>A | CA344001940 | ASPM | n.2961A>T c.9674A>T (p.Asp3225Val) c.9896A>T (p.Asp3299Val) c.9650A>T (p.Asp3217Val) c.4919A>T (p.Asp1640Val) c.2669A>T (p.Asp890Val) c.3632A>T (p.Asp1211Val) | |
1 | g.197090351T>C | CA344001942 | ASPM | n.2961A>G c.9674A>G (p.Asp3225Gly) c.9896A>G (p.Asp3299Gly) c.9650A>G (p.Asp3217Gly) c.4919A>G (p.Asp1640Gly) c.2669A>G (p.Asp890Gly) c.3632A>G (p.Asp1211Gly) | gnomAD v4 |
1 | g.197090351T>G | CA344001943 | ASPM | n.2961A>C c.9674A>C (p.Asp3225Ala) c.9896A>C (p.Asp3299Ala) c.9650A>C (p.Asp3217Ala) c.4919A>C (p.Asp1640Ala) c.2669A>C (p.Asp890Ala) c.3632A>C (p.Asp1211Ala) | |
1 | g.197090352del | CA2515381945 | ASPM | n.2960del c.9673del (p.Asp3225IlefsTer10) c.9895del (p.Asp3299IlefsTer10) c.9649del (p.Asp3217IlefsTer10) c.4918del (p.Asp1640IlefsTer10) c.2668del (p.Asp890IlefsTer10) c.3631del (p.Asp1211IlefsTer10) | |
1 | g.197090352C>A | CA344001944 | ASPM | n.2960G>T c.9673G>T (p.Asp3225Tyr) c.9895G>T (p.Asp3299Tyr) c.9649G>T (p.Asp3217Tyr) c.4918G>T (p.Asp1640Tyr) c.2668G>T (p.Asp890Tyr) c.3631G>T (p.Asp1211Tyr) | dbSNP gnomAD v4 |
1 | g.197090352C= | CA1217925322 | ASPM | n.2960G= c.9673G= (p.Asp3225=) c.9895G= (p.Asp3299=) c.9649G= (p.Asp3217=) c.4918G= (p.Asp1640=) c.2668G= (p.Asp890=) c.3631G= (p.Asp1211=) | |
1 | g.197090352C>G | CA344001945 | ASPM | n.2960G>C c.9673G>C (p.Asp3225His) c.9895G>C (p.Asp3299His) c.9649G>C (p.Asp3217His) c.4918G>C (p.Asp1640His) c.2668G>C (p.Asp890His) c.3631G>C (p.Asp1211His) | |
1 | g.197090352C>T | CA344001947 | ASPM | n.2960G>A c.9673G>A (p.Asp3225Asn) c.9895G>A (p.Asp3299Asn) c.9649G>A (p.Asp3217Asn) c.4918G>A (p.Asp1640Asn) c.2668G>A (p.Asp890Asn) c.3631G>A (p.Asp1211Asn) | |
1 | g.197090353A>C | CA344001949 | ASPM | n.2959T>G c.9672T>G (p.Asn3224Lys) c.9894T>G (p.Asn3298Lys) c.9648T>G (p.Asn3216Lys) c.4917T>G (p.Asn1639Lys) c.2667T>G (p.Asn889Lys) c.3630T>G (p.Asn1210Lys) | |
1 | g.197090353A>G | CA422672347 | ASPM | n.2959T>C c.9672T>C (p.Asn3224=) c.9894T>C (p.Asn3298=) c.9648T>C (p.Asn3216=) c.4917T>C (p.Asn1639=) c.2667T>C (p.Asn889=) c.3630T>C (p.Asn1210=) | |
1 | g.197090353A>T | CA344001950 | ASPM | n.2959T>A c.9672T>A (p.Asn3224Lys) c.9894T>A (p.Asn3298Lys) c.9648T>A (p.Asn3216Lys) c.4917T>A (p.Asn1639Lys) c.2667T>A (p.Asn889Lys) c.3630T>A (p.Asn1210Lys) | |
1 | g.197090354T>A | CA344001953 | ASPM | n.2958A>T c.9671A>T (p.Asn3224Ile) c.9893A>T (p.Asn3298Ile) c.9647A>T (p.Asn3216Ile) c.4916A>T (p.Asn1639Ile) c.2666A>T (p.Asn889Ile) c.3629A>T (p.Asn1210Ile) | |
1 | g.197090354T>C | CA344001958 | ASPM | n.2958A>G c.9671A>G (p.Asn3224Ser) c.9893A>G (p.Asn3298Ser) c.9647A>G (p.Asn3216Ser) c.4916A>G (p.Asn1639Ser) c.2666A>G (p.Asn889Ser) c.3629A>G (p.Asn1210Ser) | |
1 | g.197090354T>G | CA344001959 | ASPM | n.2958A>C c.9671A>C (p.Asn3224Thr) c.9893A>C (p.Asn3298Thr) c.9647A>C (p.Asn3216Thr) c.4916A>C (p.Asn1639Thr) c.2666A>C (p.Asn889Thr) c.3629A>C (p.Asn1210Thr) | |
1 | g.197090355T>A | CA344001965 | ASPM | n.2957A>T c.9670A>T (p.Asn3224Tyr) c.9892A>T (p.Asn3298Tyr) c.9646A>T (p.Asn3216Tyr) c.4915A>T (p.Asn1639Tyr) c.2665A>T (p.Asn889Tyr) c.3628A>T (p.Asn1210Tyr) | |
1 | g.197090355T>C | CA344001963 | ASPM | n.2957A>G c.9670A>G (p.Asn3224Asp) c.9892A>G (p.Asn3298Asp) c.9646A>G (p.Asn3216Asp) c.4915A>G (p.Asn1639Asp) c.2665A>G (p.Asn889Asp) c.3628A>G (p.Asn1210Asp) | |
1 | g.197090355T>G | CA344001961 | ASPM | n.2957A>C c.9670A>C (p.Asn3224His) c.9892A>C (p.Asn3298His) c.9646A>C (p.Asn3216His) c.4915A>C (p.Asn1639His) c.2665A>C (p.Asn889His) c.3628A>C (p.Asn1210His) | |
1 | g.197090356T>A | CA344001968 | ASPM | n.2956A>T c.9669A>T (p.Lys3223Asn) c.9891A>T (p.Lys3297Asn) c.9645A>T (p.Lys3215Asn) c.4914A>T (p.Lys1638Asn) c.2664A>T (p.Lys888Asn) c.3627A>T (p.Lys1209Asn) | |
1 | g.197090356T>C | CA422672351 | ASPM | n.2956A>G c.9669A>G (p.Lys3223=) c.9891A>G (p.Lys3297=) c.9645A>G (p.Lys3215=) c.4914A>G (p.Lys1638=) c.2664A>G (p.Lys888=) c.3627A>G (p.Lys1209=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090356T>G | CA344001970 | ASPM | n.2956A>C c.9669A>C (p.Lys3223Asn) c.9891A>C (p.Lys3297Asn) c.9645A>C (p.Lys3215Asn) c.4914A>C (p.Lys1638Asn) c.2664A>C (p.Lys888Asn) c.3627A>C (p.Lys1209Asn) | |
1 | g.197090356T= | CA1217925323 | ASPM | n.2956A= c.9669A= (p.Lys3223=) c.9891A= (p.Lys3297=) c.9645A= (p.Lys3215=) c.4914A= (p.Lys1638=) c.2664A= (p.Lys888=) c.3627A= (p.Lys1209=) | |
1 | g.197090357T>A | CA344001990 | ASPM | n.2955A>T c.9668A>T (p.Lys3223Ile) c.9890A>T (p.Lys3297Ile) c.9644A>T (p.Lys3215Ile) c.4913A>T (p.Lys1638Ile) c.2663A>T (p.Lys888Ile) c.3626A>T (p.Lys1209Ile) | |
1 | g.197090357T>C | CA344001991 | ASPM | n.2955A>G c.9668A>G (p.Lys3223Arg) c.9890A>G (p.Lys3297Arg) c.9644A>G (p.Lys3215Arg) c.4913A>G (p.Lys1638Arg) c.2663A>G (p.Lys888Arg) c.3626A>G (p.Lys1209Arg) | dbSNP gnomAD v4 |
1 | g.197090357T>G | CA344001992 | ASPM | n.2955A>C c.9668A>C (p.Lys3223Thr) c.9890A>C (p.Lys3297Thr) c.9644A>C (p.Lys3215Thr) c.4913A>C (p.Lys1638Thr) c.2663A>C (p.Lys888Thr) c.3626A>C (p.Lys1209Thr) | |
1 | g.197090357T= | CA1217925324 | ASPM | n.2955A= c.9668A= (p.Lys3223=) c.9890A= (p.Lys3297=) c.9644A= (p.Lys3215=) c.4913A= (p.Lys1638=) c.2663A= (p.Lys888=) c.3626A= (p.Lys1209=) | |
1 | g.197090358T>A | CA344001995 | ASPM | n.2954A>T c.9667A>T (p.Lys3223Ter) c.9889A>T (p.Lys3297Ter) c.9643A>T (p.Lys3215Ter) c.4912A>T (p.Lys1638Ter) c.2662A>T (p.Lys888Ter) c.3625A>T (p.Lys1209Ter) | |
1 | g.197090358T>C | CA35862035 | ASPM | n.2954A>G c.9667A>G (p.Lys3223Glu) c.9889A>G (p.Lys3297Glu) c.9643A>G (p.Lys3215Glu) c.4912A>G (p.Lys1638Glu) c.2662A>G (p.Lys888Glu) c.3625A>G (p.Lys1209Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090358T>G | CA344001999 | ASPM | n.2954A>C c.9667A>C (p.Lys3223Gln) c.9889A>C (p.Lys3297Gln) c.9643A>C (p.Lys3215Gln) c.4912A>C (p.Lys1638Gln) c.2662A>C (p.Lys888Gln) c.3625A>C (p.Lys1209Gln) | |
1 | g.197090358T= | CA1217925327 | ASPM | n.2954A= c.9667A= (p.Lys3223=) c.9889A= (p.Lys3297=) c.9643A= (p.Lys3215=) c.4912A= (p.Lys1638=) c.2662A= (p.Lys888=) c.3625A= (p.Lys1209=) | |
1 | g.197090359del | CA2537186780 | ASPM | n.2953del c.9666del (p.Asn3224MetfsTer11) c.9888del (p.Asn3298MetfsTer11) c.9642del (p.Asn3216MetfsTer11) c.4911del (p.Asn1639MetfsTer11) c.2661del (p.Asn889MetfsTer11) c.3624del (p.Asn1210MetfsTer11) | |
1 | g.197090359C>A | CA344002001 | ASPM | n.2953G>T c.9666G>T (p.Lys3222Asn) c.9888G>T (p.Lys3296Asn) c.9642G>T (p.Lys3214Asn) c.4911G>T (p.Lys1637Asn) c.2661G>T (p.Lys887Asn) c.3624G>T (p.Lys1208Asn) | |
1 | g.197090359C= | CA1217925328 | ASPM | n.2953G= c.9666G= (p.Lys3222=) c.9888G= (p.Lys3296=) c.9642G= (p.Lys3214=) c.4911G= (p.Lys1637=) c.2661G= (p.Lys887=) c.3624G= (p.Lys1208=) | |
1 | g.197090359C>G | CA344002003 | ASPM | n.2953G>C c.9666G>C (p.Lys3222Asn) c.9888G>C (p.Lys3296Asn) c.9642G>C (p.Lys3214Asn) c.4911G>C (p.Lys1637Asn) c.2661G>C (p.Lys887Asn) c.3624G>C (p.Lys1208Asn) | |
1 | g.197090359C>T | CA35862038 | ASPM | n.2953G>A c.9666G>A (p.Lys3222=) c.9888G>A (p.Lys3296=) c.9642G>A (p.Lys3214=) c.4911G>A (p.Lys1637=) c.2661G>A (p.Lys887=) c.3624G>A (p.Lys1208=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090360T>A | CA344002006 | ASPM | n.2952A>T c.9665A>T (p.Lys3222Met) c.9887A>T (p.Lys3296Met) c.9641A>T (p.Lys3214Met) c.4910A>T (p.Lys1637Met) c.2660A>T (p.Lys887Met) c.3623A>T (p.Lys1208Met) | |
1 | g.197090360T>C | CA344002008 | ASPM | n.2952A>G c.9665A>G (p.Lys3222Arg) c.9887A>G (p.Lys3296Arg) c.9641A>G (p.Lys3214Arg) c.4910A>G (p.Lys1637Arg) c.2660A>G (p.Lys887Arg) c.3623A>G (p.Lys1208Arg) | |
1 | g.197090360T>G | CA344002011 | ASPM | n.2952A>C c.9665A>C (p.Lys3222Thr) c.9887A>C (p.Lys3296Thr) c.9641A>C (p.Lys3214Thr) c.4910A>C (p.Lys1637Thr) c.2660A>C (p.Lys887Thr) c.3623A>C (p.Lys1208Thr) | |
1 | g.197090360_197090363delinsTTCC | CA1217925329 | ASPM | n.2949_2952delinsGGAA c.9662_9665delinsGGAA (p.Arg3221=) c.9884_9887delinsGGAA (p.Arg3295=) c.9638_9641delinsGGAA (p.Arg3213=) c.4907_4910delinsGGAA (p.Arg1636=) c.2657_2660delinsGGAA (p.Arg886=) c.3620_3623delinsGGAA (p.Arg1207=) | |
1 | g.197090360_197090361insAAATA | CA2560292154 | ASPM | n.2951_2952insTATTT c.9664_9665insTATTT (p.Lys3222IlefsTer15) c.9886_9887insTATTT (p.Lys3296IlefsTer15) c.9640_9641insTATTT (p.Lys3214IlefsTer15) c.4909_4910insTATTT (p.Lys1637IlefsTer15) c.2659_2660insTATTT (p.Lys887IlefsTer15) c.3622_3623insTATTT (p.Lys1208IlefsTer15) | |
1 | g.197090361T>A | CA344002020 | ASPM | n.2951A>T c.9664A>T (p.Lys3222Ter) c.9886A>T (p.Lys3296Ter) c.9640A>T (p.Lys3214Ter) c.4909A>T (p.Lys1637Ter) c.2659A>T (p.Lys887Ter) c.3622A>T (p.Lys1208Ter) | |
1 | g.197090361T>C | CA344002018 | ASPM | n.2951A>G c.9664A>G (p.Lys3222Glu) c.9886A>G (p.Lys3296Glu) c.9640A>G (p.Lys3214Glu) c.4909A>G (p.Lys1637Glu) c.2659A>G (p.Lys887Glu) c.3622A>G (p.Lys1208Glu) | gnomAD v4 |
1 | g.197090361T>G | CA344002016 | ASPM | n.2951A>C c.9664A>C (p.Lys3222Gln) c.9886A>C (p.Lys3296Gln) c.9640A>C (p.Lys3214Gln) c.4909A>C (p.Lys1637Gln) c.2659A>C (p.Lys887Gln) c.3622A>C (p.Lys1208Gln) | |
1 | g.197090364_197090366del | CA1308883 | ASPM | n.2949_2951del c.9662_9664del (p.Arg3221del) c.9884_9886del (p.Arg3295del) c.9638_9640del (p.Arg3213del) c.4907_4909del (p.Arg1636del) c.2657_2659del (p.Arg886del) c.3620_3622del (p.Arg1207del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090362C>A | CA344002023 | ASPM | n.2950G>T c.9663G>T (p.Arg3221Ser) c.9885G>T (p.Arg3295Ser) c.9639G>T (p.Arg3213Ser) c.4908G>T (p.Arg1636Ser) c.2658G>T (p.Arg886Ser) c.3621G>T (p.Arg1207Ser) | |
1 | g.197090362C>G | CA344002025 | ASPM | n.2950G>C c.9663G>C (p.Arg3221Ser) c.9885G>C (p.Arg3295Ser) c.9639G>C (p.Arg3213Ser) c.4908G>C (p.Arg1636Ser) c.2658G>C (p.Arg886Ser) c.3621G>C (p.Arg1207Ser) | |
1 | g.197090362C>T | CA422672355 | ASPM | n.2950G>A c.9663G>A (p.Arg3221=) c.9885G>A (p.Arg3295=) c.9639G>A (p.Arg3213=) c.4908G>A (p.Arg1636=) c.2658G>A (p.Arg886=) c.3621G>A (p.Arg1207=) | gnomAD v4 |
1 | g.197090363C>A | CA344002027 | ASPM | n.2949G>T c.9662G>T (p.Arg3221Met) c.9884G>T (p.Arg3295Met) c.9638G>T (p.Arg3213Met) c.4907G>T (p.Arg1636Met) c.2657G>T (p.Arg886Met) c.3620G>T (p.Arg1207Met) | |
1 | g.197090363C= | CA1148224800 | ASPM | n.2949G= c.9662G= (p.Arg3221=) c.9884G= (p.Arg3295=) c.9638G= (p.Arg3213=) c.4907G= (p.Arg1636=) c.2657G= (p.Arg886=) c.3620G= (p.Arg1207=) | |
1 | g.197090363C>G | CA344002029 | ASPM | n.2949G>C c.9662G>C (p.Arg3221Thr) c.9884G>C (p.Arg3295Thr) c.9638G>C (p.Arg3213Thr) c.4907G>C (p.Arg1636Thr) c.2657G>C (p.Arg886Thr) c.3620G>C (p.Arg1207Thr) | |
1 | g.197090363C>T | CA271155 | ASPM | n.2949G>A c.9662G>A (p.Arg3221Lys) c.9884G>A (p.Arg3295Lys) c.9638G>A (p.Arg3213Lys) c.4907G>A (p.Arg1636Lys) c.2657G>A (p.Arg886Lys) c.3620G>A (p.Arg1207Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.197090364T>A | CA344002036 | ASPM | n.2948A>T c.9661A>T (p.Arg3221Trp) c.9883A>T (p.Arg3295Trp) c.9637A>T (p.Arg3213Trp) c.4906A>T (p.Arg1636Trp) c.2656A>T (p.Arg886Trp) c.3619A>T (p.Arg1207Trp) | |
1 | g.197090364T>C | CA344002034 | ASPM | n.2948A>G c.9661A>G (p.Arg3221Gly) c.9883A>G (p.Arg3295Gly) c.9637A>G (p.Arg3213Gly) c.4906A>G (p.Arg1636Gly) c.2656A>G (p.Arg886Gly) c.3619A>G (p.Arg1207Gly) | |
1 | g.197090364T>G | CA422672359 | ASPM | n.2948A>C c.9661A>C (p.Arg3221=) c.9883A>C (p.Arg3295=) c.9637A>C (p.Arg3213=) c.4906A>C (p.Arg1636=) c.2656A>C (p.Arg886=) c.3619A>C (p.Arg1207=) | |
1 | g.197090365C>A | CA344002039 | ASPM | n.2947G>T c.9660G>T (p.Trp3220Cys) c.9882G>T (p.Trp3294Cys) c.9636G>T (p.Trp3212Cys) c.4905G>T (p.Trp1635Cys) c.2655G>T (p.Trp885Cys) c.3618G>T (p.Trp1206Cys) | COSMIC |
1 | g.197090365C>G | CA344002041 | ASPM | n.2947G>C c.9660G>C (p.Trp3220Cys) c.9882G>C (p.Trp3294Cys) c.9636G>C (p.Trp3212Cys) c.4905G>C (p.Trp1635Cys) c.2655G>C (p.Trp885Cys) c.3618G>C (p.Trp1206Cys) | |
1 | g.197090365C>T | CA344002043 | ASPM | n.2947G>A c.9660G>A (p.Trp3220Ter) c.9882G>A (p.Trp3294Ter) c.9636G>A (p.Trp3212Ter) c.4905G>A (p.Trp1635Ter) c.2655G>A (p.Trp885Ter) c.3618G>A (p.Trp1206Ter) | |
1 | g.197090366C>A | CA35862040 | ASPM | n.2946G>T c.9659G>T (p.Trp3220Leu) c.9881G>T (p.Trp3294Leu) c.9635G>T (p.Trp3212Leu) c.4904G>T (p.Trp1635Leu) c.2654G>T (p.Trp885Leu) c.3617G>T (p.Trp1206Leu) | dbSNP |
1 | g.197090366C= | CA1141042162 | ASPM | n.2946G= c.9659G= (p.Trp3220=) c.9881G= (p.Trp3294=) c.9635G= (p.Trp3212=) c.4904G= (p.Trp1635=) c.2654G= (p.Trp885=) c.3617G= (p.Trp1206=) | |
1 | g.197090366C>G | CA344002044 | ASPM | n.2946G>C c.9659G>C (p.Trp3220Ser) c.9881G>C (p.Trp3294Ser) c.9635G>C (p.Trp3212Ser) c.4904G>C (p.Trp1635Ser) c.2654G>C (p.Trp885Ser) c.3617G>C (p.Trp1206Ser) | |
1 | g.197090366C>T | CA1308884 | ASPM | n.2946G>A c.9659G>A (p.Trp3220Ter) c.9881G>A (p.Trp3294Ter) c.9635G>A (p.Trp3212Ter) c.4904G>A (p.Trp1635Ter) c.2654G>A (p.Trp885Ter) c.3617G>A (p.Trp1206Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090367A>C | CA344002053 | ASPM | n.2945T>G c.9658T>G (p.Trp3220Gly) c.9880T>G (p.Trp3294Gly) c.9634T>G (p.Trp3212Gly) c.4903T>G (p.Trp1635Gly) c.2653T>G (p.Trp885Gly) c.3616T>G (p.Trp1206Gly) | |
1 | g.197090367A>G | CA344002048 | ASPM | n.2945T>C c.9658T>C (p.Trp3220Arg) c.9880T>C (p.Trp3294Arg) c.9634T>C (p.Trp3212Arg) c.4903T>C (p.Trp1635Arg) c.2653T>C (p.Trp885Arg) c.3616T>C (p.Trp1206Arg) | |
1 | g.197090367A>T | CA344002052 | ASPM | n.2945T>A c.9658T>A (p.Trp3220Arg) c.9880T>A (p.Trp3294Arg) c.9634T>A (p.Trp3212Arg) c.4903T>A (p.Trp1635Arg) c.2653T>A (p.Trp885Arg) c.3616T>A (p.Trp1206Arg) | |
1 | g.197090368A= | CA1217925335 | ASPM | n.2944T= c.9657T= (p.Ser3219=) c.9879T= (p.Ser3293=) c.9633T= (p.Ser3211=) c.4902T= (p.Ser1634=) c.2652T= (p.Ser884=) c.3615T= (p.Ser1205=) | |
1 | g.197090368A>C | CA1308885 | ASPM | n.2944T>G c.9657T>G (p.Ser3219=) c.9879T>G (p.Ser3293=) c.9633T>G (p.Ser3211=) c.4902T>G (p.Ser1634=) c.2652T>G (p.Ser884=) c.3615T>G (p.Ser1205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090368A>G | CA422672362 | ASPM | n.2944T>C c.9657T>C (p.Ser3219=) c.9879T>C (p.Ser3293=) c.9633T>C (p.Ser3211=) c.4902T>C (p.Ser1634=) c.2652T>C (p.Ser884=) c.3615T>C (p.Ser1205=) | |
1 | g.197090368A>T | CA422672361 | ASPM | n.2944T>A c.9657T>A (p.Ser3219=) c.9879T>A (p.Ser3293=) c.9633T>A (p.Ser3211=) c.4902T>A (p.Ser1634=) c.2652T>A (p.Ser884=) c.3615T>A (p.Ser1205=) | |
1 | g.197090369G>A | CA344002056 | ASPM | n.2943C>T c.9656C>T (p.Ser3219Phe) c.9878C>T (p.Ser3293Phe) c.9632C>T (p.Ser3211Phe) c.4901C>T (p.Ser1634Phe) c.2651C>T (p.Ser884Phe) c.3614C>T (p.Ser1205Phe) | |
1 | g.197090369G>C | CA344002057 | ASPM | n.2943C>G c.9656C>G (p.Ser3219Cys) c.9878C>G (p.Ser3293Cys) c.9632C>G (p.Ser3211Cys) c.4901C>G (p.Ser1634Cys) c.2651C>G (p.Ser884Cys) c.3614C>G (p.Ser1205Cys) | |
1 | g.197090369G>T | CA344002060 | ASPM | n.2943C>A c.9656C>A (p.Ser3219Tyr) c.9878C>A (p.Ser3293Tyr) c.9632C>A (p.Ser3211Tyr) c.4901C>A (p.Ser1634Tyr) c.2651C>A (p.Ser884Tyr) c.3614C>A (p.Ser1205Tyr) | |
1 | g.197090370A>C | CA344002063 | ASPM | n.2942T>G c.9655T>G (p.Ser3219Ala) c.9877T>G (p.Ser3293Ala) c.9631T>G (p.Ser3211Ala) c.4900T>G (p.Ser1634Ala) c.2650T>G (p.Ser884Ala) c.3613T>G (p.Ser1205Ala) | |
1 | g.197090370A>G | CA344002066 | ASPM | n.2942T>C c.9655T>C (p.Ser3219Pro) c.9877T>C (p.Ser3293Pro) c.9631T>C (p.Ser3211Pro) c.4900T>C (p.Ser1634Pro) c.2650T>C (p.Ser884Pro) c.3613T>C (p.Ser1205Pro) | |
1 | g.197090370A>T | CA344002071 | ASPM | n.2942T>A c.9655T>A (p.Ser3219Thr) c.9877T>A (p.Ser3293Thr) c.9631T>A (p.Ser3211Thr) c.4900T>A (p.Ser1634Thr) c.2650T>A (p.Ser884Thr) c.3613T>A (p.Ser1205Thr) | |
1 | g.197090371A>C | CA344002074 | ASPM | n.2941T>G c.9654T>G (p.Tyr3218Ter) c.9876T>G (p.Tyr3292Ter) c.9630T>G (p.Tyr3210Ter) c.4899T>G (p.Tyr1633Ter) c.2649T>G (p.Tyr883Ter) c.3612T>G (p.Tyr1204Ter) | |
1 | g.197090371A>G | CA422672364 | ASPM | n.2941T>C c.9654T>C (p.Tyr3218=) c.9876T>C (p.Tyr3292=) c.9630T>C (p.Tyr3210=) c.4899T>C (p.Tyr1633=) c.2649T>C (p.Tyr883=) c.3612T>C (p.Tyr1204=) | |
1 | g.197090371A>T | CA344002076 | ASPM | n.2941T>A c.9654T>A (p.Tyr3218Ter) c.9876T>A (p.Tyr3292Ter) c.9630T>A (p.Tyr3210Ter) c.4899T>A (p.Tyr1633Ter) c.2649T>A (p.Tyr883Ter) c.3612T>A (p.Tyr1204Ter) | |
1 | g.197090372T>A | CA344002079 | ASPM | n.2940A>T c.9653A>T (p.Tyr3218Phe) c.9875A>T (p.Tyr3292Phe) c.9629A>T (p.Tyr3210Phe) c.4898A>T (p.Tyr1633Phe) c.2648A>T (p.Tyr883Phe) c.3611A>T (p.Tyr1204Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090372T>C | CA344002082 | ASPM | n.2940A>G c.9653A>G (p.Tyr3218Cys) c.9875A>G (p.Tyr3292Cys) c.9629A>G (p.Tyr3210Cys) c.4898A>G (p.Tyr1633Cys) c.2648A>G (p.Tyr883Cys) c.3611A>G (p.Tyr1204Cys) | |
1 | g.197090372T>G | CA344002085 | ASPM | n.2940A>C c.9653A>C (p.Tyr3218Ser) c.9875A>C (p.Tyr3292Ser) c.9629A>C (p.Tyr3210Ser) c.4898A>C (p.Tyr1633Ser) c.2648A>C (p.Tyr883Ser) c.3611A>C (p.Tyr1204Ser) | |
1 | g.197090372T= | CA1217925337 | ASPM | n.2940A= c.9653A= (p.Tyr3218=) c.9875A= (p.Tyr3292=) c.9629A= (p.Tyr3210=) c.4898A= (p.Tyr1633=) c.2648A= (p.Tyr883=) c.3611A= (p.Tyr1204=) | |
1 | g.197090373A= | CA1148255483 | ASPM | n.2939T= c.9652T= (p.Tyr3218=) c.9874T= (p.Tyr3292=) c.9628T= (p.Tyr3210=) c.4897T= (p.Tyr1633=) c.2647T= (p.Tyr883=) c.3610T= (p.Tyr1204=) | |
1 | g.197090373A>C | CA344002092 | ASPM | n.2939T>G c.9652T>G (p.Tyr3218Asp) c.9874T>G (p.Tyr3292Asp) c.9628T>G (p.Tyr3210Asp) c.4897T>G (p.Tyr1633Asp) c.2647T>G (p.Tyr883Asp) c.3610T>G (p.Tyr1204Asp) | |
1 | g.197090373A>G | CA1308886 | ASPM | n.2939T>C c.9652T>C (p.Tyr3218His) c.9874T>C (p.Tyr3292His) c.9628T>C (p.Tyr3210His) c.4897T>C (p.Tyr1633His) c.2647T>C (p.Tyr883His) c.3610T>C (p.Tyr1204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090373A>T | CA344002089 | ASPM | n.2939T>A c.9652T>A (p.Tyr3218Asn) c.9874T>A (p.Tyr3292Asn) c.9628T>A (p.Tyr3210Asn) c.4897T>A (p.Tyr1633Asn) c.2647T>A (p.Tyr883Asn) c.3610T>A (p.Tyr1204Asn) | |
1 | g.197090373_197090374insTCTT | CA2570154967 | ASPM | n.2938_2939insAAGA c.9651_9652insAAGA (p.Tyr3218LysfsTer9) c.9873_9874insAAGA (p.Tyr3292LysfsTer9) c.9627_9628insAAGA (p.Tyr3210LysfsTer9) c.4896_4897insAAGA (p.Tyr1633LysfsTer9) c.2646_2647insAAGA (p.Tyr883LysfsTer9) c.3609_3610insAAGA (p.Tyr1204LysfsTer9) | |
1 | g.197090374G>A | CA422672368 | ASPM | n.2938C>T c.9651C>T (p.Gly3217=) c.9873C>T (p.Gly3291=) c.9627C>T (p.Gly3209=) c.4896C>T (p.Gly1632=) c.2646C>T (p.Gly882=) c.3609C>T (p.Gly1203=) | |
1 | g.197090374G>C | CA422672367 | ASPM | n.2938C>G c.9651C>G (p.Gly3217=) c.9873C>G (p.Gly3291=) c.9627C>G (p.Gly3209=) c.4896C>G (p.Gly1632=) c.2646C>G (p.Gly882=) c.3609C>G (p.Gly1203=) | |
1 | g.197090374G= | CA1217925338 | ASPM | n.2938C= c.9651C= (p.Gly3217=) c.9873C= (p.Gly3291=) c.9627C= (p.Gly3209=) c.4896C= (p.Gly1632=) c.2646C= (p.Gly882=) c.3609C= (p.Gly1203=) | |
1 | g.197090374G>T | CA422672366 | ASPM | n.2938C>A c.9651C>A (p.Gly3217=) c.9873C>A (p.Gly3291=) c.9627C>A (p.Gly3209=) c.4896C>A (p.Gly1632=) c.2646C>A (p.Gly882=) c.3609C>A (p.Gly1203=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090374_197090375insTACACTA | CA2536796341 | ASPM | n.2937_2938insTAGTGTA c.9650_9651insTAGTGTA (p.Tyr3218SerfsTer10) c.9872_9873insTAGTGTA (p.Tyr3292SerfsTer10) c.9626_9627insTAGTGTA (p.Tyr3210SerfsTer10) c.4895_4896insTAGTGTA (p.Tyr1633SerfsTer10) c.2645_2646insTAGTGTA (p.Tyr883SerfsTer10) c.3608_3609insTAGTGTA (p.Tyr1204SerfsTer10) | |
1 | g.197090375C>A | CA344002095 | ASPM | n.2937G>T c.9650G>T (p.Gly3217Val) c.9872G>T (p.Gly3291Val) c.9626G>T (p.Gly3209Val) c.4895G>T (p.Gly1632Val) c.2645G>T (p.Gly882Val) c.3608G>T (p.Gly1203Val) | |
1 | g.197090375C= | CA1217925340 | ASPM | n.2937G= c.9650G= (p.Gly3217=) c.9872G= (p.Gly3291=) c.9626G= (p.Gly3209=) c.4895G= (p.Gly1632=) c.2645G= (p.Gly882=) c.3608G= (p.Gly1203=) | |
1 | g.197090375C>G | CA344002098 | ASPM | n.2937G>C c.9650G>C (p.Gly3217Ala) c.9872G>C (p.Gly3291Ala) c.9626G>C (p.Gly3209Ala) c.4895G>C (p.Gly1632Ala) c.2645G>C (p.Gly882Ala) c.3608G>C (p.Gly1203Ala) | |
1 | g.197090375C>T | CA344002097 | ASPM | n.2937G>A c.9650G>A (p.Gly3217Asp) c.9872G>A (p.Gly3291Asp) c.9626G>A (p.Gly3209Asp) c.4895G>A (p.Gly1632Asp) c.2645G>A (p.Gly882Asp) c.3608G>A (p.Gly1203Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090376C>A | CA344002101 | ASPM | n.2936G>T c.9649G>T (p.Gly3217Cys) c.9871G>T (p.Gly3291Cys) c.9625G>T (p.Gly3209Cys) c.4894G>T (p.Gly1632Cys) c.2644G>T (p.Gly882Cys) c.3607G>T (p.Gly1203Cys) | |
1 | g.197090376C>G | CA344002104 | ASPM | n.2936G>C c.9649G>C (p.Gly3217Arg) c.9871G>C (p.Gly3291Arg) c.9625G>C (p.Gly3209Arg) c.4894G>C (p.Gly1632Arg) c.2644G>C (p.Gly882Arg) c.3607G>C (p.Gly1203Arg) | |
1 | g.197090376C>T | CA344002103 | ASPM | n.2936G>A c.9649G>A (p.Gly3217Ser) c.9871G>A (p.Gly3291Ser) c.9625G>A (p.Gly3209Ser) c.4894G>A (p.Gly1632Ser) c.2644G>A (p.Gly882Ser) c.3607G>A (p.Gly1203Ser) | |
1 | g.197090377T>A | CA344002105 | ASPM | n.2935A>T c.9648A>T (p.Arg3216Ser) c.9870A>T (p.Arg3290Ser) c.9624A>T (p.Arg3208Ser) c.4893A>T (p.Arg1631Ser) c.2643A>T (p.Arg881Ser) c.3606A>T (p.Arg1202Ser) | |
1 | g.197090377T>C | CA422672371 | ASPM | n.2935A>G c.9648A>G (p.Arg3216=) c.9870A>G (p.Arg3290=) c.9624A>G (p.Arg3208=) c.4893A>G (p.Arg1631=) c.2643A>G (p.Arg881=) c.3606A>G (p.Arg1202=) | gnomAD v4 |
1 | g.197090377T>G | CA344002106 | ASPM | n.2935A>C c.9648A>C (p.Arg3216Ser) c.9870A>C (p.Arg3290Ser) c.9624A>C (p.Arg3208Ser) c.4893A>C (p.Arg1631Ser) c.2643A>C (p.Arg881Ser) c.3606A>C (p.Arg1202Ser) | |
1 | g.197090377_197090378insAAA | CA2519024568 | ASPM | n.2934_2935insTTT c.9647_9648insTTT (p.Arg3216delinsSerLeu) c.9869_9870insTTT (p.Arg3290delinsSerLeu) c.9623_9624insTTT (p.Arg3208delinsSerLeu) c.4892_4893insTTT (p.Arg1631delinsSerLeu) c.2642_2643insTTT (p.Arg881delinsSerLeu) c.3605_3606insTTT (p.Arg1202delinsSerLeu) | |
1 | g.197090378C>A | CA344002108 | ASPM | n.2934G>T c.9647G>T (p.Arg3216Ile) c.9869G>T (p.Arg3290Ile) c.9623G>T (p.Arg3208Ile) c.4892G>T (p.Arg1631Ile) c.2642G>T (p.Arg881Ile) c.3605G>T (p.Arg1202Ile) | dbSNP |
1 | g.197090378C= | CA1144133353 | ASPM | n.2934G= c.9647G= (p.Arg3216=) c.9869G= (p.Arg3290=) c.9623G= (p.Arg3208=) c.4892G= (p.Arg1631=) c.2642G= (p.Arg881=) c.3605G= (p.Arg1202=) | |
1 | g.197090378C>G | CA344002110 | ASPM | n.2934G>C c.9647G>C (p.Arg3216Thr) c.9869G>C (p.Arg3290Thr) c.9623G>C (p.Arg3208Thr) c.4892G>C (p.Arg1631Thr) c.2642G>C (p.Arg881Thr) c.3605G>C (p.Arg1202Thr) | |
1 | g.197090378C>T | CA1308887 | ASPM | n.2934G>A c.9647G>A (p.Arg3216Lys) c.9869G>A (p.Arg3290Lys) c.9623G>A (p.Arg3208Lys) c.4892G>A (p.Arg1631Lys) c.2642G>A (p.Arg881Lys) c.3605G>A (p.Arg1202Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090379T>A | CA344002112 | ASPM | n.2933A>T c.9646A>T (p.Arg3216Ter) c.9868A>T (p.Arg3290Ter) c.9622A>T (p.Arg3208Ter) c.4891A>T (p.Arg1631Ter) c.2641A>T (p.Arg881Ter) c.3604A>T (p.Arg1202Ter) | |
1 | g.197090379T>C | CA344002113 | ASPM | n.2933A>G c.9646A>G (p.Arg3216Gly) c.9868A>G (p.Arg3290Gly) c.9622A>G (p.Arg3208Gly) c.4891A>G (p.Arg1631Gly) c.2641A>G (p.Arg881Gly) c.3604A>G (p.Arg1202Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.197090379T>G | CA422672372 | ASPM | n.2933A>C c.9646A>C (p.Arg3216=) c.9868A>C (p.Arg3290=) c.9622A>C (p.Arg3208=) c.4891A>C (p.Arg1631=) c.2641A>C (p.Arg881=) c.3604A>C (p.Arg1202=) | |
1 | g.197090379T= | CA1217925343 | ASPM | n.2933A= c.9646A= (p.Arg3216=) c.9868A= (p.Arg3290=) c.9622A= (p.Arg3208=) c.4891A= (p.Arg1631=) c.2641A= (p.Arg881=) c.3604A= (p.Arg1202=) |