Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197088299_197088301del | CA528535060 | ASPM | n.3408_3410del c.10121_10123del (p.Cys3374del) c.10343_10345del (p.Cys3448del) c.10097_10099del (p.Cys3366del) c.5366_5368del (p.Cys1789del) c.3116_3118del (p.Cys1039del) c.4079_4081del (p.Cys1360del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088299C>A | CA343997601 | ASPM | n.3405G>T c.10118G>T (p.Cys3373Phe) c.10340G>T (p.Cys3447Phe) c.10094G>T (p.Cys3365Phe) c.5363G>T (p.Cys1788Phe) c.3113G>T (p.Cys1038Phe) c.4076G>T (p.Cys1359Phe) | |
1 | g.197088299C= | CA1217923497 | ASPM | n.3405G= c.10118G= (p.Cys3373=) c.10340G= (p.Cys3447=) c.10094G= (p.Cys3365=) c.5363G= (p.Cys1788=) c.3113G= (p.Cys1038=) c.4076G= (p.Cys1359=) | |
1 | g.197088299C>G | CA343997613 | ASPM | n.3405G>C c.10118G>C (p.Cys3373Ser) c.10340G>C (p.Cys3447Ser) c.10094G>C (p.Cys3365Ser) c.5363G>C (p.Cys1788Ser) c.3113G>C (p.Cys1038Ser) c.4076G>C (p.Cys1359Ser) | |
1 | g.197088299C>T | CA343997622 | ASPM | n.3405G>A c.10118G>A (p.Cys3373Tyr) c.10340G>A (p.Cys3447Tyr) c.10094G>A (p.Cys3365Tyr) c.5363G>A (p.Cys1788Tyr) c.3113G>A (p.Cys1038Tyr) c.4076G>A (p.Cys1359Tyr) | ClinVar dbSNP |
1 | g.197088300A>C | CA343997655 | ASPM | n.3404T>G c.10117T>G (p.Cys3373Gly) c.10339T>G (p.Cys3447Gly) c.10093T>G (p.Cys3365Gly) c.5362T>G (p.Cys1788Gly) c.3112T>G (p.Cys1038Gly) c.4075T>G (p.Cys1359Gly) | COSMIC |
1 | g.197088300A>G | CA343997645 | ASPM | n.3404T>C c.10117T>C (p.Cys3373Arg) c.10339T>C (p.Cys3447Arg) c.10093T>C (p.Cys3365Arg) c.5362T>C (p.Cys1788Arg) c.3112T>C (p.Cys1038Arg) c.4075T>C (p.Cys1359Arg) | |
1 | g.197088300A>T | CA343997643 | ASPM | n.3404T>A c.10117T>A (p.Cys3373Ser) c.10339T>A (p.Cys3447Ser) c.10093T>A (p.Cys3365Ser) c.5362T>A (p.Cys1788Ser) c.3112T>A (p.Cys1038Ser) c.4075T>A (p.Cys1359Ser) | |
1 | g.197088301A>C | CA422672169 | ASPM | n.3403T>G c.10116T>G (p.Thr3372=) c.10338T>G (p.Thr3446=) c.10092T>G (p.Thr3364=) c.5361T>G (p.Thr1787=) c.3111T>G (p.Thr1037=) c.4074T>G (p.Thr1358=) | |
1 | g.197088301A>G | CA422672170 | ASPM | n.3403T>C c.10116T>C (p.Thr3372=) c.10338T>C (p.Thr3446=) c.10092T>C (p.Thr3364=) c.5361T>C (p.Thr1787=) c.3111T>C (p.Thr1037=) c.4074T>C (p.Thr1358=) | |
1 | g.197088301A>T | CA422672171 | ASPM | n.3403T>A c.10116T>A (p.Thr3372=) c.10338T>A (p.Thr3446=) c.10092T>A (p.Thr3364=) c.5361T>A (p.Thr1787=) c.3111T>A (p.Thr1037=) c.4074T>A (p.Thr1358=) | |
1 | g.197088302G>A | CA343997658 | ASPM | n.3402C>T c.10115C>T (p.Thr3372Ile) c.10337C>T (p.Thr3446Ile) c.10091C>T (p.Thr3364Ile) c.5360C>T (p.Thr1787Ile) c.3110C>T (p.Thr1037Ile) c.4073C>T (p.Thr1358Ile) | COSMIC |
1 | g.197088302G>C | CA343997663 | ASPM | n.3402C>G c.10115C>G (p.Thr3372Ser) c.10337C>G (p.Thr3446Ser) c.10091C>G (p.Thr3364Ser) c.5360C>G (p.Thr1787Ser) c.3110C>G (p.Thr1037Ser) c.4073C>G (p.Thr1358Ser) | |
1 | g.197088302G>T | CA343997667 | ASPM | n.3402C>A c.10115C>A (p.Thr3372Asn) c.10337C>A (p.Thr3446Asn) c.10091C>A (p.Thr3364Asn) c.5360C>A (p.Thr1787Asn) c.3110C>A (p.Thr1037Asn) c.4073C>A (p.Thr1358Asn) | |
1 | g.197088303T>A | CA343997673 | ASPM | n.3401A>T c.10114A>T (p.Thr3372Ser) c.10336A>T (p.Thr3446Ser) c.10090A>T (p.Thr3364Ser) c.5359A>T (p.Thr1787Ser) c.3109A>T (p.Thr1037Ser) c.4072A>T (p.Thr1358Ser) | |
1 | g.197088303T>C | CA343997675 | ASPM | n.3401A>G c.10114A>G (p.Thr3372Ala) c.10336A>G (p.Thr3446Ala) c.10090A>G (p.Thr3364Ala) c.5359A>G (p.Thr1787Ala) c.3109A>G (p.Thr1037Ala) c.4072A>G (p.Thr1358Ala) | dbSNP gnomAD v4 |
1 | g.197088303T>G | CA343997677 | ASPM | n.3401A>C c.10114A>C (p.Thr3372Pro) c.10336A>C (p.Thr3446Pro) c.10090A>C (p.Thr3364Pro) c.5359A>C (p.Thr1787Pro) c.3109A>C (p.Thr1037Pro) c.4072A>C (p.Thr1358Pro) | |
1 | g.197088303T= | CA1217923499 | ASPM | n.3401A= c.10114A= (p.Thr3372=) c.10336A= (p.Thr3446=) c.10090A= (p.Thr3364=) c.5359A= (p.Thr1787=) c.3109A= (p.Thr1037=) c.4072A= (p.Thr1358=) | |
1 | g.197088304T>A | CA343997682 | ASPM | n.3400A>T c.10113A>T (p.Lys3371Asn) c.10335A>T (p.Lys3445Asn) c.10089A>T (p.Lys3363Asn) c.5358A>T (p.Lys1786Asn) c.3108A>T (p.Lys1036Asn) c.4071A>T (p.Lys1357Asn) | |
1 | g.197088304T>C | CA422672172 | ASPM | n.3400A>G c.10113A>G (p.Lys3371=) c.10335A>G (p.Lys3445=) c.10089A>G (p.Lys3363=) c.5358A>G (p.Lys1786=) c.3108A>G (p.Lys1036=) c.4071A>G (p.Lys1357=) | |
1 | g.197088304T>G | CA1308794 | ASPM | n.3400A>C c.10113A>C (p.Lys3371Asn) c.10335A>C (p.Lys3445Asn) c.10089A>C (p.Lys3363Asn) c.5358A>C (p.Lys1786Asn) c.3108A>C (p.Lys1036Asn) c.4071A>C (p.Lys1357Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088304T= | CA1217923504 | ASPM | n.3400A= c.10113A= (p.Lys3371=) c.10335A= (p.Lys3445=) c.10089A= (p.Lys3363=) c.5358A= (p.Lys1786=) c.3108A= (p.Lys1036=) c.4071A= (p.Lys1357=) | |
1 | g.197088305T>A | CA343997683 | ASPM | n.3399A>T c.10112A>T (p.Lys3371Ile) c.10334A>T (p.Lys3445Ile) c.10088A>T (p.Lys3363Ile) c.5357A>T (p.Lys1786Ile) c.3107A>T (p.Lys1036Ile) c.4070A>T (p.Lys1357Ile) | |
1 | g.197088305T>C | CA343997685 | ASPM | n.3399A>G c.10112A>G (p.Lys3371Arg) c.10334A>G (p.Lys3445Arg) c.10088A>G (p.Lys3363Arg) c.5357A>G (p.Lys1786Arg) c.3107A>G (p.Lys1036Arg) c.4070A>G (p.Lys1357Arg) | |
1 | g.197088305T>G | CA343997688 | ASPM | n.3399A>C c.10112A>C (p.Lys3371Thr) c.10334A>C (p.Lys3445Thr) c.10088A>C (p.Lys3363Thr) c.5357A>C (p.Lys1786Thr) c.3107A>C (p.Lys1036Thr) c.4070A>C (p.Lys1357Thr) | COSMIC |
1 | g.197088306T>A | CA343997696 | ASPM | n.3398A>T c.10111A>T (p.Lys3371Ter) c.10333A>T (p.Lys3445Ter) c.10087A>T (p.Lys3363Ter) c.5356A>T (p.Lys1786Ter) c.3106A>T (p.Lys1036Ter) c.4069A>T (p.Lys1357Ter) | |
1 | g.197088306T>C | CA343997699 | ASPM | n.3398A>G c.10111A>G (p.Lys3371Glu) c.10333A>G (p.Lys3445Glu) c.10087A>G (p.Lys3363Glu) c.5356A>G (p.Lys1786Glu) c.3106A>G (p.Lys1036Glu) c.4069A>G (p.Lys1357Glu) | dbSNP |
1 | g.197088306T>G | CA343997711 | ASPM | n.3398A>C c.10111A>C (p.Lys3371Gln) c.10333A>C (p.Lys3445Gln) c.10087A>C (p.Lys3363Gln) c.5356A>C (p.Lys1786Gln) c.3106A>C (p.Lys1036Gln) c.4069A>C (p.Lys1357Gln) | |
1 | g.197088306T= | CA1217923511 | ASPM | n.3398A= c.10111A= (p.Lys3371=) c.10333A= (p.Lys3445=) c.10087A= (p.Lys3363=) c.5356A= (p.Lys1786=) c.3106A= (p.Lys1036=) c.4069A= (p.Lys1357=) | |
1 | g.197088307T>A | CA422672173 | ASPM | n.3397A>T c.10110A>T (p.Thr3370=) c.10332A>T (p.Thr3444=) c.10086A>T (p.Thr3362=) c.5355A>T (p.Thr1785=) c.3105A>T (p.Thr1035=) c.4068A>T (p.Thr1356=) | |
1 | g.197088307T>C | CA422672174 | ASPM | n.3397A>G c.10110A>G (p.Thr3370=) c.10332A>G (p.Thr3444=) c.10086A>G (p.Thr3362=) c.5355A>G (p.Thr1785=) c.3105A>G (p.Thr1035=) c.4068A>G (p.Thr1356=) | |
1 | g.197088307T>G | CA422672175 | ASPM | n.3397A>C c.10110A>C (p.Thr3370=) c.10332A>C (p.Thr3444=) c.10086A>C (p.Thr3362=) c.5355A>C (p.Thr1785=) c.3105A>C (p.Thr1035=) c.4068A>C (p.Thr1356=) | |
1 | g.197088308G>A | CA343997712 | ASPM | n.3396C>T c.10109C>T (p.Thr3370Ile) c.10331C>T (p.Thr3444Ile) c.10085C>T (p.Thr3362Ile) c.5354C>T (p.Thr1785Ile) c.3104C>T (p.Thr1035Ile) c.4067C>T (p.Thr1356Ile) | gnomAD v4 |
1 | g.197088308G>C | CA270991 | ASPM | n.3396C>G c.10109C>G (p.Thr3370Arg) c.10331C>G (p.Thr3444Arg) c.10085C>G (p.Thr3362Arg) c.5354C>G (p.Thr1785Arg) c.3104C>G (p.Thr1035Arg) c.4067C>G (p.Thr1356Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088308G= | CA1148224795 | ASPM | n.3396C= c.10109C= (p.Thr3370=) c.10331C= (p.Thr3444=) c.10085C= (p.Thr3362=) c.5354C= (p.Thr1785=) c.3104C= (p.Thr1035=) c.4067C= (p.Thr1356=) | |
1 | g.197088308G>T | CA343997713 | ASPM | n.3396C>A c.10109C>A (p.Thr3370Lys) c.10331C>A (p.Thr3444Lys) c.10085C>A (p.Thr3362Lys) c.5354C>A (p.Thr1785Lys) c.3104C>A (p.Thr1035Lys) c.4067C>A (p.Thr1356Lys) | |
1 | g.197088309T>A | CA343997719 | ASPM | n.3395A>T c.10108A>T (p.Thr3370Ser) c.10330A>T (p.Thr3444Ser) c.10084A>T (p.Thr3362Ser) c.5353A>T (p.Thr1785Ser) c.3103A>T (p.Thr1035Ser) c.4066A>T (p.Thr1356Ser) | |
1 | g.197088309T>C | CA343997720 | ASPM | n.3395A>G c.10108A>G (p.Thr3370Ala) c.10330A>G (p.Thr3444Ala) c.10084A>G (p.Thr3362Ala) c.5353A>G (p.Thr1785Ala) c.3103A>G (p.Thr1035Ala) c.4066A>G (p.Thr1356Ala) | gnomAD v4 |
1 | g.197088309T>G | CA343997723 | ASPM | n.3395A>C c.10108A>C (p.Thr3370Pro) c.10330A>C (p.Thr3444Pro) c.10084A>C (p.Thr3362Pro) c.5353A>C (p.Thr1785Pro) c.3103A>C (p.Thr1035Pro) c.4066A>C (p.Thr1356Pro) | |
1 | g.197088310A= | CA1217923516 | ASPM | n.3394T= c.10107T= (p.Phe3369=) c.10329T= (p.Phe3443=) c.10083T= (p.Phe3361=) c.5352T= (p.Phe1784=) c.3102T= (p.Phe1034=) c.4065T= (p.Phe1355=) | |
1 | g.197088310A>C | CA343997727 | ASPM | n.3394T>G c.10107T>G (p.Phe3369Leu) c.10329T>G (p.Phe3443Leu) c.10083T>G (p.Phe3361Leu) c.5352T>G (p.Phe1784Leu) c.3102T>G (p.Phe1034Leu) c.4065T>G (p.Phe1355Leu) | |
1 | g.197088310A>G | CA422672176 | ASPM | n.3394T>C c.10107T>C (p.Phe3369=) c.10329T>C (p.Phe3443=) c.10083T>C (p.Phe3361=) c.5352T>C (p.Phe1784=) c.3102T>C (p.Phe1034=) c.4065T>C (p.Phe1355=) | dbSNP |
1 | g.197088310A>T | CA343997728 | ASPM | n.3394T>A c.10107T>A (p.Phe3369Leu) c.10329T>A (p.Phe3443Leu) c.10083T>A (p.Phe3361Leu) c.5352T>A (p.Phe1784Leu) c.3102T>A (p.Phe1034Leu) c.4065T>A (p.Phe1355Leu) | |
1 | g.197088314dup | CA2649660431 | ASPM | n.3394dup c.10107dup (p.Thr3370TyrfsTer16) c.10329dup (p.Thr3444TyrfsTer16) c.10083dup (p.Thr3362TyrfsTer16) c.5352dup (p.Thr1785TyrfsTer16) c.3102dup (p.Thr1035TyrfsTer16) c.4065dup (p.Thr1356TyrfsTer16) | gnomAD v4 |
1 | g.197088311A= | CA1217923517 | ASPM | n.3393T= c.10106T= (p.Phe3369=) c.10328T= (p.Phe3443=) c.10082T= (p.Phe3361=) c.5351T= (p.Phe1784=) c.3101T= (p.Phe1034=) c.4064T= (p.Phe1355=) | |
1 | g.197088311A>C | CA343997732 | ASPM | n.3393T>G c.10106T>G (p.Phe3369Cys) c.10328T>G (p.Phe3443Cys) c.10082T>G (p.Phe3361Cys) c.5351T>G (p.Phe1784Cys) c.3101T>G (p.Phe1034Cys) c.4064T>G (p.Phe1355Cys) | |
1 | g.197088311A>G | CA343997733 | ASPM | n.3393T>C c.10106T>C (p.Phe3369Ser) c.10328T>C (p.Phe3443Ser) c.10082T>C (p.Phe3361Ser) c.5351T>C (p.Phe1784Ser) c.3101T>C (p.Phe1034Ser) c.4064T>C (p.Phe1355Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088311A>T | CA343997734 | ASPM | n.3393T>A c.10106T>A (p.Phe3369Tyr) c.10328T>A (p.Phe3443Tyr) c.10082T>A (p.Phe3361Tyr) c.5351T>A (p.Phe1784Tyr) c.3101T>A (p.Phe1034Tyr) c.4064T>A (p.Phe1355Tyr) | gnomAD v4 |
1 | g.197088312A>C | CA343997735 | ASPM | n.3392T>G c.10105T>G (p.Phe3369Val) c.10327T>G (p.Phe3443Val) c.10081T>G (p.Phe3361Val) c.5350T>G (p.Phe1784Val) c.3100T>G (p.Phe1034Val) c.4063T>G (p.Phe1355Val) | |
1 | g.197088312A>G | CA343997737 | ASPM | n.3392T>C c.10105T>C (p.Phe3369Leu) c.10327T>C (p.Phe3443Leu) c.10081T>C (p.Phe3361Leu) c.5350T>C (p.Phe1784Leu) c.3100T>C (p.Phe1034Leu) c.4063T>C (p.Phe1355Leu) | |
1 | g.197088312A>T | CA343997738 | ASPM | n.3392T>A c.10105T>A (p.Phe3369Ile) c.10327T>A (p.Phe3443Ile) c.10081T>A (p.Phe3361Ile) c.5350T>A (p.Phe1784Ile) c.3100T>A (p.Phe1034Ile) c.4063T>A (p.Phe1355Ile) | |
1 | g.197088313A>C | CA343997739 | ASPM | n.3391T>G c.10104T>G (p.Ile3368Met) c.10326T>G (p.Ile3442Met) c.10080T>G (p.Ile3360Met) c.5349T>G (p.Ile1783Met) c.3099T>G (p.Ile1033Met) c.4062T>G (p.Ile1354Met) | |
1 | g.197088313A>G | CA422672177 | ASPM | n.3391T>C c.10104T>C (p.Ile3368=) c.10326T>C (p.Ile3442=) c.10080T>C (p.Ile3360=) c.5349T>C (p.Ile1783=) c.3099T>C (p.Ile1033=) c.4062T>C (p.Ile1354=) | |
1 | g.197088313A>T | CA422672178 | ASPM | n.3391T>A c.10104T>A (p.Ile3368=) c.10326T>A (p.Ile3442=) c.10080T>A (p.Ile3360=) c.5349T>A (p.Ile1783=) c.3099T>A (p.Ile1033=) c.4062T>A (p.Ile1354=) | |
1 | g.197088314A>C | CA343997747 | ASPM | n.3390T>G c.10103T>G (p.Ile3368Ser) c.10325T>G (p.Ile3442Ser) c.10079T>G (p.Ile3360Ser) c.5348T>G (p.Ile1783Ser) c.3098T>G (p.Ile1033Ser) c.4061T>G (p.Ile1354Ser) | |
1 | g.197088314A>G | CA343997742 | ASPM | n.3390T>C c.10103T>C (p.Ile3368Thr) c.10325T>C (p.Ile3442Thr) c.10079T>C (p.Ile3360Thr) c.5348T>C (p.Ile1783Thr) c.3098T>C (p.Ile1033Thr) c.4061T>C (p.Ile1354Thr) | |
1 | g.197088314A>T | CA343997749 | ASPM | n.3390T>A c.10103T>A (p.Ile3368Asn) c.10325T>A (p.Ile3442Asn) c.10079T>A (p.Ile3360Asn) c.5348T>A (p.Ile1783Asn) c.3098T>A (p.Ile1033Asn) c.4061T>A (p.Ile1354Asn) | |
1 | g.197088315T>A | CA343997755 | ASPM | n.3389A>T c.10102A>T (p.Ile3368Phe) c.10324A>T (p.Ile3442Phe) c.10078A>T (p.Ile3360Phe) c.5347A>T (p.Ile1783Phe) c.3097A>T (p.Ile1033Phe) c.4060A>T (p.Ile1354Phe) | dbSNP |
1 | g.197088315T>C | CA343997786 | ASPM | n.3389A>G c.10102A>G (p.Ile3368Val) c.10324A>G (p.Ile3442Val) c.10078A>G (p.Ile3360Val) c.5347A>G (p.Ile1783Val) c.3097A>G (p.Ile1033Val) c.4060A>G (p.Ile1354Val) | |
1 | g.197088315T>G | CA343997788 | ASPM | n.3389A>C c.10102A>C (p.Ile3368Leu) c.10324A>C (p.Ile3442Leu) c.10078A>C (p.Ile3360Leu) c.5347A>C (p.Ile1783Leu) c.3097A>C (p.Ile1033Leu) c.4060A>C (p.Ile1354Leu) | |
1 | g.197088315T= | CA1217923520 | ASPM | n.3389A= c.10102A= (p.Ile3368=) c.10324A= (p.Ile3442=) c.10078A= (p.Ile3360=) c.5347A= (p.Ile1783=) c.3097A= (p.Ile1033=) c.4060A= (p.Ile1354=) | |
1 | g.197088316G>A | CA422672179 | ASPM | n.3388C>T c.10101C>T (p.Ser3367=) c.10323C>T (p.Ser3441=) c.10077C>T (p.Ser3359=) c.5346C>T (p.Ser1782=) c.3096C>T (p.Ser1032=) c.4059C>T (p.Ser1353=) | |
1 | g.197088316G>C | CA343997795 | ASPM | n.3388C>G c.10101C>G (p.Ser3367Arg) c.10323C>G (p.Ser3441Arg) c.10077C>G (p.Ser3359Arg) c.5346C>G (p.Ser1782Arg) c.3096C>G (p.Ser1032Arg) c.4059C>G (p.Ser1353Arg) | |
1 | g.197088316G>T | CA343997813 | ASPM | n.3388C>A c.10101C>A (p.Ser3367Arg) c.10323C>A (p.Ser3441Arg) c.10077C>A (p.Ser3359Arg) c.5346C>A (p.Ser1782Arg) c.3096C>A (p.Ser1032Arg) c.4059C>A (p.Ser1353Arg) | |
1 | g.197088317C>A | CA343997831 | ASPM | n.3387G>T c.10100G>T (p.Ser3367Ile) c.10322G>T (p.Ser3441Ile) c.10076G>T (p.Ser3359Ile) c.5345G>T (p.Ser1782Ile) c.3095G>T (p.Ser1032Ile) c.4058G>T (p.Ser1353Ile) | |
1 | g.197088317C= | CA1148224797 | ASPM | n.3387G= c.10100G= (p.Ser3367=) c.10322G= (p.Ser3441=) c.10076G= (p.Ser3359=) c.5345G= (p.Ser1782=) c.3095G= (p.Ser1032=) c.4058G= (p.Ser1353=) | |
1 | g.197088317C>G | CA343997832 | ASPM | n.3387G>C c.10100G>C (p.Ser3367Thr) c.10322G>C (p.Ser3441Thr) c.10076G>C (p.Ser3359Thr) c.5345G>C (p.Ser1782Thr) c.3095G>C (p.Ser1032Thr) c.4058G>C (p.Ser1353Thr) | |
1 | g.197088317C>T | CA270989 | ASPM | n.3387G>A c.10100G>A (p.Ser3367Asn) c.10322G>A (p.Ser3441Asn) c.10076G>A (p.Ser3359Asn) c.5345G>A (p.Ser1782Asn) c.3095G>A (p.Ser1032Asn) c.4058G>A (p.Ser1353Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.197088318T>A | CA343997838 | ASPM | n.3386A>T c.10099A>T (p.Ser3367Cys) c.10321A>T (p.Ser3441Cys) c.10075A>T (p.Ser3359Cys) c.5344A>T (p.Ser1782Cys) c.3094A>T (p.Ser1032Cys) c.4057A>T (p.Ser1353Cys) | |
1 | g.197088318T>C | CA35861056 | ASPM | n.3386A>G c.10099A>G (p.Ser3367Gly) c.10321A>G (p.Ser3441Gly) c.10075A>G (p.Ser3359Gly) c.5344A>G (p.Ser1782Gly) c.3094A>G (p.Ser1032Gly) c.4057A>G (p.Ser1353Gly) | dbSNP |
1 | g.197088318T>G | CA343997841 | ASPM | n.3386A>C c.10099A>C (p.Ser3367Arg) c.10321A>C (p.Ser3441Arg) c.10075A>C (p.Ser3359Arg) c.5344A>C (p.Ser1782Arg) c.3094A>C (p.Ser1032Arg) c.4057A>C (p.Ser1353Arg) | |
1 | g.197088318T= | CA1217923529 | ASPM | n.3386A= c.10099A= (p.Ser3367=) c.10321A= (p.Ser3441=) c.10075A= (p.Ser3359=) c.5344A= (p.Ser1782=) c.3094A= (p.Ser1032=) c.4057A= (p.Ser1353=) | |
1 | g.197088319T>A | CA422672180 | ASPM | n.3385A>T c.10098A>T (p.Gly3366=) c.10320A>T (p.Gly3440=) c.10074A>T (p.Gly3358=) c.5343A>T (p.Gly1781=) c.3093A>T (p.Gly1031=) c.4056A>T (p.Gly1352=) | gnomAD v4 |
1 | g.197088319T>C | CA422672181 | ASPM | n.3385A>G c.10098A>G (p.Gly3366=) c.10320A>G (p.Gly3440=) c.10074A>G (p.Gly3358=) c.5343A>G (p.Gly1781=) c.3093A>G (p.Gly1031=) c.4056A>G (p.Gly1352=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197088319T>G | CA422672182 | ASPM | n.3385A>C c.10098A>C (p.Gly3366=) c.10320A>C (p.Gly3440=) c.10074A>C (p.Gly3358=) c.5343A>C (p.Gly1781=) c.3093A>C (p.Gly1031=) c.4056A>C (p.Gly1352=) | |
1 | g.197088319T= | CA1217923531 | ASPM | n.3385A= c.10098A= (p.Gly3366=) c.10320A= (p.Gly3440=) c.10074A= (p.Gly3358=) c.5343A= (p.Gly1781=) c.3093A= (p.Gly1031=) c.4056A= (p.Gly1352=) | |
1 | g.197088319_197088320del | CA2586967834 | ASPM | n.3384_3385del c.10097_10098del (p.Gly3366GlufsTer19) c.10319_10320del (p.Gly3440GlufsTer19) c.10073_10074del (p.Gly3358GlufsTer19) c.5342_5343del (p.Gly1781GlufsTer19) c.3092_3093del (p.Gly1031GlufsTer19) c.4055_4056del (p.Gly1352GlufsTer19) | |
1 | g.197088320C>A | CA343997846 | ASPM | n.3384G>T c.10097G>T (p.Gly3366Val) c.10319G>T (p.Gly3440Val) c.10073G>T (p.Gly3358Val) c.5342G>T (p.Gly1781Val) c.3092G>T (p.Gly1031Val) c.4055G>T (p.Gly1352Val) | |
1 | g.197088320C>G | CA343997845 | ASPM | n.3384G>C c.10097G>C (p.Gly3366Ala) c.10319G>C (p.Gly3440Ala) c.10073G>C (p.Gly3358Ala) c.5342G>C (p.Gly1781Ala) c.3092G>C (p.Gly1031Ala) c.4055G>C (p.Gly1352Ala) | |
1 | g.197088320C>T | CA343997842 | ASPM | n.3384G>A c.10097G>A (p.Gly3366Glu) c.10319G>A (p.Gly3440Glu) c.10073G>A (p.Gly3358Glu) c.5342G>A (p.Gly1781Glu) c.3092G>A (p.Gly1031Glu) c.4055G>A (p.Gly1352Glu) | |
1 | g.197088321C>A | CA343997847 | ASPM | n.3383G>T c.10096G>T (p.Gly3366Ter) c.10318G>T (p.Gly3440Ter) c.10072G>T (p.Gly3358Ter) c.5341G>T (p.Gly1781Ter) c.3091G>T (p.Gly1031Ter) c.4054G>T (p.Gly1352Ter) | |
1 | g.197088321C= | CA1143498565 | ASPM | n.3383G= c.10096G= (p.Gly3366=) c.10318G= (p.Gly3440=) c.10072G= (p.Gly3358=) c.5341G= (p.Gly1781=) c.3091G= (p.Gly1031=) c.4054G= (p.Gly1352=) | |
1 | g.197088321C>G | CA343997849 | ASPM | n.3383G>C c.10096G>C (p.Gly3366Arg) c.10318G>C (p.Gly3440Arg) c.10072G>C (p.Gly3358Arg) c.5341G>C (p.Gly1781Arg) c.3091G>C (p.Gly1031Arg) c.4054G>C (p.Gly1352Arg) | |
1 | g.197088321C>T | CA1308795 | ASPM | n.3383G>A c.10096G>A (p.Gly3366Arg) c.10318G>A (p.Gly3440Arg) c.10072G>A (p.Gly3358Arg) c.5341G>A (p.Gly1781Arg) c.3091G>A (p.Gly1031Arg) c.4054G>A (p.Gly1352Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088322G>A | CA10608698 | ASPM | n.3382C>T c.10095C>T (p.Gly3365=) c.10317C>T (p.Gly3439=) c.10071C>T (p.Gly3357=) c.5340C>T (p.Gly1780=) c.3090C>T (p.Gly1030=) c.4053C>T (p.Gly1351=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197088322G>C | CA422672183 | ASPM | n.3382C>G c.10095C>G (p.Gly3365=) c.10317C>G (p.Gly3439=) c.10071C>G (p.Gly3357=) c.5340C>G (p.Gly1780=) c.3090C>G (p.Gly1030=) c.4053C>G (p.Gly1351=) | |
1 | g.197088322G= | CA1217923540 | ASPM | n.3382C= c.10095C= (p.Gly3365=) c.10317C= (p.Gly3439=) c.10071C= (p.Gly3357=) c.5340C= (p.Gly1780=) c.3090C= (p.Gly1030=) c.4053C= (p.Gly1351=) | |
1 | g.197088322G>T | CA422672184 | ASPM | n.3382C>A c.10095C>A (p.Gly3365=) c.10317C>A (p.Gly3439=) c.10071C>A (p.Gly3357=) c.5340C>A (p.Gly1780=) c.3090C>A (p.Gly1030=) c.4053C>A (p.Gly1351=) | |
1 | g.197088323C>A | CA343997873 | ASPM | n.3381G>T c.10094G>T (p.Gly3365Val) c.10316G>T (p.Gly3439Val) c.10070G>T (p.Gly3357Val) c.5339G>T (p.Gly1780Val) c.3089G>T (p.Gly1030Val) c.4052G>T (p.Gly1351Val) | |
1 | g.197088323C= | CA1217923542 | ASPM | n.3381G= c.10094G= (p.Gly3365=) c.10316G= (p.Gly3439=) c.10070G= (p.Gly3357=) c.5339G= (p.Gly1780=) c.3089G= (p.Gly1030=) c.4052G= (p.Gly1351=) | |
1 | g.197088323C>G | CA343997874 | ASPM | n.3381G>C c.10094G>C (p.Gly3365Ala) c.10316G>C (p.Gly3439Ala) c.10070G>C (p.Gly3357Ala) c.5339G>C (p.Gly1780Ala) c.3089G>C (p.Gly1030Ala) c.4052G>C (p.Gly1351Ala) | |
1 | g.197088323C>T | CA1308796 | ASPM | n.3381G>A c.10094G>A (p.Gly3365Asp) c.10316G>A (p.Gly3439Asp) c.10070G>A (p.Gly3357Asp) c.5339G>A (p.Gly1780Asp) c.3089G>A (p.Gly1030Asp) c.4052G>A (p.Gly1351Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088324C>A | CA343997877 | ASPM | n.3380G>T c.10093G>T (p.Gly3365Cys) c.10315G>T (p.Gly3439Cys) c.10069G>T (p.Gly3357Cys) c.5338G>T (p.Gly1780Cys) c.3088G>T (p.Gly1030Cys) c.4051G>T (p.Gly1351Cys) | |
1 | g.197088324C>G | CA343997899 | ASPM | n.3380G>C c.10093G>C (p.Gly3365Arg) c.10315G>C (p.Gly3439Arg) c.10069G>C (p.Gly3357Arg) c.5338G>C (p.Gly1780Arg) c.3088G>C (p.Gly1030Arg) c.4051G>C (p.Gly1351Arg) | |
1 | g.197088324C>T | CA343997904 | ASPM | n.3380G>A c.10093G>A (p.Gly3365Ser) c.10315G>A (p.Gly3439Ser) c.10069G>A (p.Gly3357Ser) c.5338G>A (p.Gly1780Ser) c.3088G>A (p.Gly1030Ser) c.4051G>A (p.Gly1351Ser) | gnomAD v4 |
1 | g.197088325T>A | CA343997919 | ASPM | n.3379A>T c.10092A>T (p.Lys3364Asn) c.10314A>T (p.Lys3438Asn) c.10068A>T (p.Lys3356Asn) c.5337A>T (p.Lys1779Asn) c.3087A>T (p.Lys1029Asn) c.4050A>T (p.Lys1350Asn) | |
1 | g.197088325T>C | CA422672185 | ASPM | n.3379A>G c.10092A>G (p.Lys3364=) c.10314A>G (p.Lys3438=) c.10068A>G (p.Lys3356=) c.5337A>G (p.Lys1779=) c.3087A>G (p.Lys1029=) c.4050A>G (p.Lys1350=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088325T>G | CA343997921 | ASPM | n.3379A>C c.10092A>C (p.Lys3364Asn) c.10314A>C (p.Lys3438Asn) c.10068A>C (p.Lys3356Asn) c.5337A>C (p.Lys1779Asn) c.3087A>C (p.Lys1029Asn) c.4050A>C (p.Lys1350Asn) | |
1 | g.197088325T= | CA1217923544 | ASPM | n.3379A= c.10092A= (p.Lys3364=) c.10314A= (p.Lys3438=) c.10068A= (p.Lys3356=) c.5337A= (p.Lys1779=) c.3087A= (p.Lys1029=) c.4050A= (p.Lys1350=) | |
1 | g.197088326T>A | CA343997941 | ASPM | n.3378A>T c.10091A>T (p.Lys3364Ile) c.10313A>T (p.Lys3438Ile) c.10067A>T (p.Lys3356Ile) c.5336A>T (p.Lys1779Ile) c.3086A>T (p.Lys1029Ile) c.4049A>T (p.Lys1350Ile) | |
1 | g.197088326T>C | CA343997944 | ASPM | n.3378A>G c.10091A>G (p.Lys3364Arg) c.10313A>G (p.Lys3438Arg) c.10067A>G (p.Lys3356Arg) c.5336A>G (p.Lys1779Arg) c.3086A>G (p.Lys1029Arg) c.4049A>G (p.Lys1350Arg) | |
1 | g.197088326T>G | CA343997924 | ASPM | n.3378A>C c.10091A>C (p.Lys3364Thr) c.10313A>C (p.Lys3438Thr) c.10067A>C (p.Lys3356Thr) c.5336A>C (p.Lys1779Thr) c.3086A>C (p.Lys1029Thr) c.4049A>C (p.Lys1350Thr) | |
1 | g.197088327T>A | CA343997949 | ASPM | n.3377A>T c.10090A>T (p.Lys3364Ter) c.10312A>T (p.Lys3438Ter) c.10066A>T (p.Lys3356Ter) c.5335A>T (p.Lys1779Ter) c.3085A>T (p.Lys1029Ter) c.4048A>T (p.Lys1350Ter) | |
1 | g.197088327T>C | CA1308797 | ASPM | n.3377A>G c.10090A>G (p.Lys3364Glu) c.10312A>G (p.Lys3438Glu) c.10066A>G (p.Lys3356Glu) c.5335A>G (p.Lys1779Glu) c.3085A>G (p.Lys1029Glu) c.4048A>G (p.Lys1350Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088327T>G | CA343997955 | ASPM | n.3377A>C c.10090A>C (p.Lys3364Gln) c.10312A>C (p.Lys3438Gln) c.10066A>C (p.Lys3356Gln) c.5335A>C (p.Lys1779Gln) c.3085A>C (p.Lys1029Gln) c.4048A>C (p.Lys1350Gln) | gnomAD v4 |
1 | g.197088327T= | CA1149061114 | ASPM | n.3377A= c.10090A= (p.Lys3364=) c.10312A= (p.Lys3438=) c.10066A= (p.Lys3356=) c.5335A= (p.Lys1779=) c.3085A= (p.Lys1029=) c.4048A= (p.Lys1350=) | |
1 | g.197088328G>A | CA422672186 | ASPM | n.3376C>T c.10089C>T (p.Asp3363=) c.10311C>T (p.Asp3437=) c.10065C>T (p.Asp3355=) c.5334C>T (p.Asp1778=) c.3084C>T (p.Asp1028=) c.4047C>T (p.Asp1349=) | |
1 | g.197088328G>C | CA343997956 | ASPM | n.3376C>G c.10089C>G (p.Asp3363Glu) c.10311C>G (p.Asp3437Glu) c.10065C>G (p.Asp3355Glu) c.5334C>G (p.Asp1778Glu) c.3084C>G (p.Asp1028Glu) c.4047C>G (p.Asp1349Glu) | |
1 | g.197088328G>T | CA343997957 | ASPM | n.3376C>A c.10089C>A (p.Asp3363Glu) c.10311C>A (p.Asp3437Glu) c.10065C>A (p.Asp3355Glu) c.5334C>A (p.Asp1778Glu) c.3084C>A (p.Asp1028Glu) c.4047C>A (p.Asp1349Glu) | gnomAD v4 |
1 | g.197088329T>A | CA343997978 | ASPM | n.3375A>T c.10088A>T (p.Asp3363Val) c.10310A>T (p.Asp3437Val) c.10064A>T (p.Asp3355Val) c.5333A>T (p.Asp1778Val) c.3083A>T (p.Asp1028Val) c.4046A>T (p.Asp1349Val) | |
1 | g.197088329T>C | CA343997967 | ASPM | n.3375A>G c.10088A>G (p.Asp3363Gly) c.10310A>G (p.Asp3437Gly) c.10064A>G (p.Asp3355Gly) c.5333A>G (p.Asp1778Gly) c.3083A>G (p.Asp1028Gly) c.4046A>G (p.Asp1349Gly) | |
1 | g.197088329T>G | CA343997961 | ASPM | n.3375A>C c.10088A>C (p.Asp3363Ala) c.10310A>C (p.Asp3437Ala) c.10064A>C (p.Asp3355Ala) c.5333A>C (p.Asp1778Ala) c.3083A>C (p.Asp1028Ala) c.4046A>C (p.Asp1349Ala) | |
1 | g.197088330C>A | CA343997988 | ASPM | n.3374G>T c.10087G>T (p.Asp3363Tyr) c.10309G>T (p.Asp3437Tyr) c.10063G>T (p.Asp3355Tyr) c.5332G>T (p.Asp1778Tyr) c.3082G>T (p.Asp1028Tyr) c.4045G>T (p.Asp1349Tyr) | gnomAD v4 |
1 | g.197088330C>G | CA343997989 | ASPM | n.3374G>C c.10087G>C (p.Asp3363His) c.10309G>C (p.Asp3437His) c.10063G>C (p.Asp3355His) c.5332G>C (p.Asp1778His) c.3082G>C (p.Asp1028His) c.4045G>C (p.Asp1349His) | |
1 | g.197088330C>T | CA343997990 | ASPM | n.3374G>A c.10087G>A (p.Asp3363Asn) c.10309G>A (p.Asp3437Asn) c.10063G>A (p.Asp3355Asn) c.5332G>A (p.Asp1778Asn) c.3082G>A (p.Asp1028Asn) c.4045G>A (p.Asp1349Asn) | |
1 | g.197088331T>A | CA422672187 | ASPM | n.3373A>T c.10086A>T (p.Ala3362=) c.10308A>T (p.Ala3436=) c.10062A>T (p.Ala3354=) c.5331A>T (p.Ala1777=) c.3081A>T (p.Ala1027=) c.4044A>T (p.Ala1348=) | |
1 | g.197088331T>C | CA422672188 | ASPM | n.3373A>G c.10086A>G (p.Ala3362=) c.10308A>G (p.Ala3436=) c.10062A>G (p.Ala3354=) c.5331A>G (p.Ala1777=) c.3081A>G (p.Ala1027=) c.4044A>G (p.Ala1348=) | |
1 | g.197088331T>G | CA422672189 | ASPM | n.3373A>C c.10086A>C (p.Ala3362=) c.10308A>C (p.Ala3436=) c.10062A>C (p.Ala3354=) c.5331A>C (p.Ala1777=) c.3081A>C (p.Ala1027=) c.4044A>C (p.Ala1348=) | dbSNP gnomAD v4 |
1 | g.197088331T= | CA1217923547 | ASPM | n.3373A= c.10086A= (p.Ala3362=) c.10308A= (p.Ala3436=) c.10062A= (p.Ala3354=) c.5331A= (p.Ala1777=) c.3081A= (p.Ala1027=) c.4044A= (p.Ala1348=) | |
1 | g.197088332G>A | CA343997991 | ASPM | n.3372C>T c.10085C>T (p.Ala3362Val) c.10307C>T (p.Ala3436Val) c.10061C>T (p.Ala3354Val) c.5330C>T (p.Ala1777Val) c.3080C>T (p.Ala1027Val) c.4043C>T (p.Ala1348Val) | |
1 | g.197088332G>C | CA343997996 | ASPM | n.3372C>G c.10085C>G (p.Ala3362Gly) c.10307C>G (p.Ala3436Gly) c.10061C>G (p.Ala3354Gly) c.5330C>G (p.Ala1777Gly) c.3080C>G (p.Ala1027Gly) c.4043C>G (p.Ala1348Gly) | |
1 | g.197088332G>T | CA343997999 | ASPM | n.3372C>A c.10085C>A (p.Ala3362Glu) c.10307C>A (p.Ala3436Glu) c.10061C>A (p.Ala3354Glu) c.5330C>A (p.Ala1777Glu) c.3080C>A (p.Ala1027Glu) c.4043C>A (p.Ala1348Glu) | |
1 | g.197088332_197088344delinsGCAACTTTATTAC | CA1217923549 | ASPM | n.3360_3372delinsGTAATAAAGTTGC c.10073_10085delinsGTAATAAAGTTGC (p.Gly3358=) c.10295_10307delinsGTAATAAAGTTGC (p.Gly3432=) c.10049_10061delinsGTAATAAAGTTGC (p.Gly3350=) c.5318_5330delinsGTAATAAAGTTGC (p.Gly1773=) c.3068_3080delinsGTAATAAAGTTGC (p.Gly1023=) c.4031_4043delinsGTAATAAAGTTGC (p.Gly1344=) | |
1 | g.197088333C>A | CA343998004 | ASPM | n.3371G>T c.10084G>T (p.Ala3362Ser) c.10306G>T (p.Ala3436Ser) c.10060G>T (p.Ala3354Ser) c.5329G>T (p.Ala1777Ser) c.3079G>T (p.Ala1027Ser) c.4042G>T (p.Ala1348Ser) | |
1 | g.197088333C>G | CA343998008 | ASPM | n.3371G>C c.10084G>C (p.Ala3362Pro) c.10306G>C (p.Ala3436Pro) c.10060G>C (p.Ala3354Pro) c.5329G>C (p.Ala1777Pro) c.3079G>C (p.Ala1027Pro) c.4042G>C (p.Ala1348Pro) | |
1 | g.197088333C>T | CA343998005 | ASPM | n.3371G>A c.10084G>A (p.Ala3362Thr) c.10306G>A (p.Ala3436Thr) c.10060G>A (p.Ala3354Thr) c.5329G>A (p.Ala1777Thr) c.3079G>A (p.Ala1027Thr) c.4042G>A (p.Ala1348Thr) | gnomAD v4 |
1 | g.197088335_197088346del | CA528535061 | ASPM | n.3360_3371del c.10073_10084del (p.Gly3358_Val3361del) c.10295_10306del (p.Gly3432_Val3435del) c.10049_10060del (p.Gly3350_Val3353del) c.5318_5329del (p.Gly1773_Val1776del) c.3068_3079del (p.Gly1023_Val1026del) c.4031_4042del (p.Gly1344_Val1347del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088334A= | CA1217923551 | ASPM | n.3370T= c.10083T= (p.Val3361=) c.10305T= (p.Val3435=) c.10059T= (p.Val3353=) c.5328T= (p.Val1776=) c.3078T= (p.Val1026=) c.4041T= (p.Val1347=) | |
1 | g.197088334A>C | CA422672190 | ASPM | n.3370T>G c.10083T>G (p.Val3361=) c.10305T>G (p.Val3435=) c.10059T>G (p.Val3353=) c.5328T>G (p.Val1776=) c.3078T>G (p.Val1026=) c.4041T>G (p.Val1347=) | |
1 | g.197088334A>G | CA1308798 | ASPM | n.3370T>C c.10083T>C (p.Val3361=) c.10305T>C (p.Val3435=) c.10059T>C (p.Val3353=) c.5328T>C (p.Val1776=) c.3078T>C (p.Val1026=) c.4041T>C (p.Val1347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088334A>T | CA422672191 | ASPM | n.3370T>A c.10083T>A (p.Val3361=) c.10305T>A (p.Val3435=) c.10059T>A (p.Val3353=) c.5328T>A (p.Val1776=) c.3078T>A (p.Val1026=) c.4041T>A (p.Val1347=) | |
1 | g.197088335A>C | CA343998016 | ASPM | n.3369T>G c.10082T>G (p.Val3361Gly) c.10304T>G (p.Val3435Gly) c.10058T>G (p.Val3353Gly) c.5327T>G (p.Val1776Gly) c.3077T>G (p.Val1026Gly) c.4040T>G (p.Val1347Gly) | |
1 | g.197088335A>G | CA343998022 | ASPM | n.3369T>C c.10082T>C (p.Val3361Ala) c.10304T>C (p.Val3435Ala) c.10058T>C (p.Val3353Ala) c.5327T>C (p.Val1776Ala) c.3077T>C (p.Val1026Ala) c.4040T>C (p.Val1347Ala) | |
1 | g.197088335A>T | CA343998032 | ASPM | n.3369T>A c.10082T>A (p.Val3361Asp) c.10304T>A (p.Val3435Asp) c.10058T>A (p.Val3353Asp) c.5327T>A (p.Val1776Asp) c.3077T>A (p.Val1026Asp) c.4040T>A (p.Val1347Asp) | |
1 | g.197088336C>A | CA343998036 | ASPM | n.3368G>T c.10081G>T (p.Val3361Phe) c.10303G>T (p.Val3435Phe) c.10057G>T (p.Val3353Phe) c.5326G>T (p.Val1776Phe) c.3076G>T (p.Val1026Phe) c.4039G>T (p.Val1347Phe) | |
1 | g.197088336C>G | CA343998039 | ASPM | n.3368G>C c.10081G>C (p.Val3361Leu) c.10303G>C (p.Val3435Leu) c.10057G>C (p.Val3353Leu) c.5326G>C (p.Val1776Leu) c.3076G>C (p.Val1026Leu) c.4039G>C (p.Val1347Leu) | |
1 | g.197088336C>T | CA343998047 | ASPM | n.3368G>A c.10081G>A (p.Val3361Ile) c.10303G>A (p.Val3435Ile) c.10057G>A (p.Val3353Ile) c.5326G>A (p.Val1776Ile) c.3076G>A (p.Val1026Ile) c.4039G>A (p.Val1347Ile) | |
1 | g.197088337T>A | CA343998057 | ASPM | n.3367A>T c.10080A>T (p.Lys3360Asn) c.10302A>T (p.Lys3434Asn) c.10056A>T (p.Lys3352Asn) c.5325A>T (p.Lys1775Asn) c.3075A>T (p.Lys1025Asn) c.4038A>T (p.Lys1346Asn) | |
1 | g.197088337T>C | CA422672192 | ASPM | n.3367A>G c.10080A>G (p.Lys3360=) c.10302A>G (p.Lys3434=) c.10056A>G (p.Lys3352=) c.5325A>G (p.Lys1775=) c.3075A>G (p.Lys1025=) c.4038A>G (p.Lys1346=) | |
1 | g.197088337T>G | CA343998059 | ASPM | n.3367A>C c.10080A>C (p.Lys3360Asn) c.10302A>C (p.Lys3434Asn) c.10056A>C (p.Lys3352Asn) c.5325A>C (p.Lys1775Asn) c.3075A>C (p.Lys1025Asn) c.4038A>C (p.Lys1346Asn) | |
1 | g.197088339del | CA2573629508 | ASPM | n.3367del c.10080del (p.Val3361LeufsTer20) c.10302del (p.Val3435LeufsTer20) c.10056del (p.Val3353LeufsTer20) c.5325del (p.Val1776LeufsTer20) c.3075del (p.Val1026LeufsTer20) c.4038del (p.Val1347LeufsTer20) | |
1 | g.197088338T>A | CA343998063 | ASPM | n.3366A>T c.10079A>T (p.Lys3360Ile) c.10301A>T (p.Lys3434Ile) c.10055A>T (p.Lys3352Ile) c.5324A>T (p.Lys1775Ile) c.3074A>T (p.Lys1025Ile) c.4037A>T (p.Lys1346Ile) | gnomAD v4 COSMIC |
1 | g.197088338T>C | CA343998066 | ASPM | n.3366A>G c.10079A>G (p.Lys3360Arg) c.10301A>G (p.Lys3434Arg) c.10055A>G (p.Lys3352Arg) c.5324A>G (p.Lys1775Arg) c.3074A>G (p.Lys1025Arg) c.4037A>G (p.Lys1346Arg) | |
1 | g.197088338T>G | CA343998071 | ASPM | n.3366A>C c.10079A>C (p.Lys3360Thr) c.10301A>C (p.Lys3434Thr) c.10055A>C (p.Lys3352Thr) c.5324A>C (p.Lys1775Thr) c.3074A>C (p.Lys1025Thr) c.4037A>C (p.Lys1346Thr) | |
1 | g.197088339T>A | CA343998074 | ASPM | n.3365A>T c.10078A>T (p.Lys3360Ter) c.10300A>T (p.Lys3434Ter) c.10054A>T (p.Lys3352Ter) c.5323A>T (p.Lys1775Ter) c.3073A>T (p.Lys1025Ter) c.4036A>T (p.Lys1346Ter) | gnomAD v4 |
1 | g.197088339T>C | CA343998080 | ASPM | n.3365A>G c.10078A>G (p.Lys3360Glu) c.10300A>G (p.Lys3434Glu) c.10054A>G (p.Lys3352Glu) c.5323A>G (p.Lys1775Glu) c.3073A>G (p.Lys1025Glu) c.4036A>G (p.Lys1346Glu) | |
1 | g.197088339T>G | CA343998077 | ASPM | n.3365A>C c.10078A>C (p.Lys3360Gln) c.10300A>C (p.Lys3434Gln) c.10054A>C (p.Lys3352Gln) c.5323A>C (p.Lys1775Gln) c.3073A>C (p.Lys1025Gln) c.4036A>C (p.Lys1346Gln) | |
1 | g.197088340A>C | CA343998085 | ASPM | n.3364T>G c.10077T>G (p.Asn3359Lys) c.10299T>G (p.Asn3433Lys) c.10053T>G (p.Asn3351Lys) c.5322T>G (p.Asn1774Lys) c.3072T>G (p.Asn1024Lys) c.4035T>G (p.Asn1345Lys) | |
1 | g.197088340A>G | CA422672193 | ASPM | n.3364T>C c.10077T>C (p.Asn3359=) c.10299T>C (p.Asn3433=) c.10053T>C (p.Asn3351=) c.5322T>C (p.Asn1774=) c.3072T>C (p.Asn1024=) c.4035T>C (p.Asn1345=) | |
1 | g.197088340A>T | CA343998088 | ASPM | n.3364T>A c.10077T>A (p.Asn3359Lys) c.10299T>A (p.Asn3433Lys) c.10053T>A (p.Asn3351Lys) c.5322T>A (p.Asn1774Lys) c.3072T>A (p.Asn1024Lys) c.4035T>A (p.Asn1345Lys) | |
1 | g.197088341T>A | CA343998095 | ASPM | n.3363A>T c.10076A>T (p.Asn3359Ile) c.10298A>T (p.Asn3433Ile) c.10052A>T (p.Asn3351Ile) c.5321A>T (p.Asn1774Ile) c.3071A>T (p.Asn1024Ile) c.4034A>T (p.Asn1345Ile) | |
1 | g.197088341T>C | CA343998103 | ASPM | n.3363A>G c.10076A>G (p.Asn3359Ser) c.10298A>G (p.Asn3433Ser) c.10052A>G (p.Asn3351Ser) c.5321A>G (p.Asn1774Ser) c.3071A>G (p.Asn1024Ser) c.4034A>G (p.Asn1345Ser) | |
1 | g.197088341T>G | CA343998099 | ASPM | n.3363A>C c.10076A>C (p.Asn3359Thr) c.10298A>C (p.Asn3433Thr) c.10052A>C (p.Asn3351Thr) c.5321A>C (p.Asn1774Thr) c.3071A>C (p.Asn1024Thr) c.4034A>C (p.Asn1345Thr) | |
1 | g.197088342T>A | CA343998110 | ASPM | n.3362A>T c.10075A>T (p.Asn3359Tyr) c.10297A>T (p.Asn3433Tyr) c.10051A>T (p.Asn3351Tyr) c.5320A>T (p.Asn1774Tyr) c.3070A>T (p.Asn1024Tyr) c.4033A>T (p.Asn1345Tyr) | |
1 | g.197088342T>C | CA343998122 | ASPM | n.3362A>G c.10075A>G (p.Asn3359Asp) c.10297A>G (p.Asn3433Asp) c.10051A>G (p.Asn3351Asp) c.5320A>G (p.Asn1774Asp) c.3070A>G (p.Asn1024Asp) c.4033A>G (p.Asn1345Asp) | COSMIC |
1 | g.197088342T>G | CA343998116 | ASPM | n.3362A>C c.10075A>C (p.Asn3359His) c.10297A>C (p.Asn3433His) c.10051A>C (p.Asn3351His) c.5320A>C (p.Asn1774His) c.3070A>C (p.Asn1024His) c.4033A>C (p.Asn1345His) | |
1 | g.197088343A>C | CA422672194 | ASPM | n.3361T>G c.10074T>G (p.Gly3358=) c.10296T>G (p.Gly3432=) c.10050T>G (p.Gly3350=) c.5319T>G (p.Gly1773=) c.3069T>G (p.Gly1023=) c.4032T>G (p.Gly1344=) | |
1 | g.197088343A>G | CA422672195 | ASPM | n.3361T>C c.10074T>C (p.Gly3358=) c.10296T>C (p.Gly3432=) c.10050T>C (p.Gly3350=) c.5319T>C (p.Gly1773=) c.3069T>C (p.Gly1023=) c.4032T>C (p.Gly1344=) | gnomAD v4 |
1 | g.197088343A>T | CA422672196 | ASPM | n.3361T>A c.10074T>A (p.Gly3358=) c.10296T>A (p.Gly3432=) c.10050T>A (p.Gly3350=) c.5319T>A (p.Gly1773=) c.3069T>A (p.Gly1023=) c.4032T>A (p.Gly1344=) | |
1 | g.197088344C>A | CA343998128 | ASPM | n.3360G>T c.10073G>T (p.Gly3358Val) c.10295G>T (p.Gly3432Val) c.10049G>T (p.Gly3350Val) c.5318G>T (p.Gly1773Val) c.3068G>T (p.Gly1023Val) c.4031G>T (p.Gly1344Val) | |
1 | g.197088344C>G | CA343998130 | ASPM | n.3360G>C c.10073G>C (p.Gly3358Ala) c.10295G>C (p.Gly3432Ala) c.10049G>C (p.Gly3350Ala) c.5318G>C (p.Gly1773Ala) c.3068G>C (p.Gly1023Ala) c.4031G>C (p.Gly1344Ala) | |
1 | g.197088344C>T | CA343998133 | ASPM | n.3360G>A c.10073G>A (p.Gly3358Asp) c.10295G>A (p.Gly3432Asp) c.10049G>A (p.Gly3350Asp) c.5318G>A (p.Gly1773Asp) c.3068G>A (p.Gly1023Asp) c.4031G>A (p.Gly1344Asp) | gnomAD v4 |
1 | g.197088345C>A | CA343998137 | ASPM | n.3359G>T c.10072G>T (p.Gly3358Cys) c.10294G>T (p.Gly3432Cys) c.10048G>T (p.Gly3350Cys) c.5317G>T (p.Gly1773Cys) c.3067G>T (p.Gly1023Cys) c.4030G>T (p.Gly1344Cys) | |
1 | g.197088345C>G | CA343998147 | ASPM | n.3359G>C c.10072G>C (p.Gly3358Arg) c.10294G>C (p.Gly3432Arg) c.10048G>C (p.Gly3350Arg) c.5317G>C (p.Gly1773Arg) c.3067G>C (p.Gly1023Arg) c.4030G>C (p.Gly1344Arg) | |
1 | g.197088345C>T | CA343998151 | ASPM | n.3359G>A c.10072G>A (p.Gly3358Ser) c.10294G>A (p.Gly3432Ser) c.10048G>A (p.Gly3350Ser) c.5317G>A (p.Gly1773Ser) c.3067G>A (p.Gly1023Ser) c.4030G>A (p.Gly1344Ser) | |
1 | g.197088346A>C | CA422672199 | ASPM | n.3358T>G c.10071T>G (p.Pro3357=) c.10293T>G (p.Pro3431=) c.10047T>G (p.Pro3349=) c.5316T>G (p.Pro1772=) c.3066T>G (p.Pro1022=) c.4029T>G (p.Pro1343=) | |
1 | g.197088346A>G | CA422672198 | ASPM | n.3358T>C c.10071T>C (p.Pro3357=) c.10293T>C (p.Pro3431=) c.10047T>C (p.Pro3349=) c.5316T>C (p.Pro1772=) c.3066T>C (p.Pro1022=) c.4029T>C (p.Pro1343=) | |
1 | g.197088346A>T | CA422672197 | ASPM | n.3358T>A c.10071T>A (p.Pro3357=) c.10293T>A (p.Pro3431=) c.10047T>A (p.Pro3349=) c.5316T>A (p.Pro1772=) c.3066T>A (p.Pro1022=) c.4029T>A (p.Pro1343=) | |
1 | g.197088347G>A | CA343998153 | ASPM | n.3357C>T c.10070C>T (p.Pro3357Leu) c.10292C>T (p.Pro3431Leu) c.10046C>T (p.Pro3349Leu) c.5315C>T (p.Pro1772Leu) c.3065C>T (p.Pro1022Leu) c.4028C>T (p.Pro1343Leu) | |
1 | g.197088347G>C | CA343998156 | ASPM | n.3357C>G c.10070C>G (p.Pro3357Arg) c.10292C>G (p.Pro3431Arg) c.10046C>G (p.Pro3349Arg) c.5315C>G (p.Pro1772Arg) c.3065C>G (p.Pro1022Arg) c.4028C>G (p.Pro1343Arg) | |
1 | g.197088347G>T | CA343998160 | ASPM | n.3357C>A c.10070C>A (p.Pro3357His) c.10292C>A (p.Pro3431His) c.10046C>A (p.Pro3349His) c.5315C>A (p.Pro1772His) c.3065C>A (p.Pro1022His) c.4028C>A (p.Pro1343His) | |
1 | g.197088348G>A | CA343998164 | ASPM | n.3356C>T c.10069C>T (p.Pro3357Ser) c.10291C>T (p.Pro3431Ser) c.10045C>T (p.Pro3349Ser) c.5314C>T (p.Pro1772Ser) c.3064C>T (p.Pro1022Ser) c.4027C>T (p.Pro1343Ser) | dbSNP |
1 | g.197088348G>C | CA343998167 | ASPM | n.3356C>G c.10069C>G (p.Pro3357Ala) c.10291C>G (p.Pro3431Ala) c.10045C>G (p.Pro3349Ala) c.5314C>G (p.Pro1772Ala) c.3064C>G (p.Pro1022Ala) c.4027C>G (p.Pro1343Ala) | |
1 | g.197088348G= | CA1217923552 | ASPM | n.3356C= c.10069C= (p.Pro3357=) c.10291C= (p.Pro3431=) c.10045C= (p.Pro3349=) c.5314C= (p.Pro1772=) c.3064C= (p.Pro1022=) c.4027C= (p.Pro1343=) | |
1 | g.197088348G>T | CA343998175 | ASPM | n.3356C>A c.10069C>A (p.Pro3357Thr) c.10291C>A (p.Pro3431Thr) c.10045C>A (p.Pro3349Thr) c.5314C>A (p.Pro1772Thr) c.3064C>A (p.Pro1022Thr) c.4027C>A (p.Pro1343Thr) | gnomAD v4 |
1 | g.197088349C>A | CA343998181 | ASPM | n.3355G>T c.10068G>T (p.Lys3356Asn) c.10290G>T (p.Lys3430Asn) c.10044G>T (p.Lys3348Asn) c.5313G>T (p.Lys1771Asn) c.3063G>T (p.Lys1021Asn) c.4026G>T (p.Lys1342Asn) | |
1 | g.197088349C>G | CA343998178 | ASPM | n.3355G>C c.10068G>C (p.Lys3356Asn) c.10290G>C (p.Lys3430Asn) c.10044G>C (p.Lys3348Asn) c.5313G>C (p.Lys1771Asn) c.3063G>C (p.Lys1021Asn) c.4026G>C (p.Lys1342Asn) | |
1 | g.197088349C>T | CA422672200 | ASPM | n.3355G>A c.10068G>A (p.Lys3356=) c.10290G>A (p.Lys3430=) c.10044G>A (p.Lys3348=) c.5313G>A (p.Lys1771=) c.3063G>A (p.Lys1021=) c.4026G>A (p.Lys1342=) | |
1 | g.197088350T>A | CA343998185 | ASPM | n.3354A>T c.10067A>T (p.Lys3356Met) c.10289A>T (p.Lys3430Met) c.10043A>T (p.Lys3348Met) c.5312A>T (p.Lys1771Met) c.3062A>T (p.Lys1021Met) c.4025A>T (p.Lys1342Met) | |
1 | g.197088350T>C | CA343998186 | ASPM | n.3354A>G c.10067A>G (p.Lys3356Arg) c.10289A>G (p.Lys3430Arg) c.10043A>G (p.Lys3348Arg) c.5312A>G (p.Lys1771Arg) c.3062A>G (p.Lys1021Arg) c.4025A>G (p.Lys1342Arg) | |
1 | g.197088350T>G | CA343998187 | ASPM | n.3354A>C c.10067A>C (p.Lys3356Thr) c.10289A>C (p.Lys3430Thr) c.10043A>C (p.Lys3348Thr) c.5312A>C (p.Lys1771Thr) c.3062A>C (p.Lys1021Thr) c.4025A>C (p.Lys1342Thr) | |
1 | g.197088351T>A | CA343998190 | ASPM | n.3353A>T c.10066A>T (p.Lys3356Ter) c.10288A>T (p.Lys3430Ter) c.10042A>T (p.Lys3348Ter) c.5311A>T (p.Lys1771Ter) c.3061A>T (p.Lys1021Ter) c.4024A>T (p.Lys1342Ter) | |
1 | g.197088351T>C | CA343998192 | ASPM | n.3353A>G c.10066A>G (p.Lys3356Glu) c.10288A>G (p.Lys3430Glu) c.10042A>G (p.Lys3348Glu) c.5311A>G (p.Lys1771Glu) c.3061A>G (p.Lys1021Glu) c.4024A>G (p.Lys1342Glu) | |
1 | g.197088351T>G | CA343998202 | ASPM | n.3353A>C c.10066A>C (p.Lys3356Gln) c.10288A>C (p.Lys3430Gln) c.10042A>C (p.Lys3348Gln) c.5311A>C (p.Lys1771Gln) c.3061A>C (p.Lys1021Gln) c.4024A>C (p.Lys1342Gln) | |
1 | g.197088352T>A | CA343998210 | ASPM | n.3352A>T c.10065A>T (p.Glu3355Asp) c.10287A>T (p.Glu3429Asp) c.10041A>T (p.Glu3347Asp) c.5310A>T (p.Glu1770Asp) c.3060A>T (p.Glu1020Asp) c.4023A>T (p.Glu1341Asp) | |
1 | g.197088352T>C | CA422672201 | ASPM | n.3352A>G c.10065A>G (p.Glu3355=) c.10287A>G (p.Glu3429=) c.10041A>G (p.Glu3347=) c.5310A>G (p.Glu1770=) c.3060A>G (p.Glu1020=) c.4023A>G (p.Glu1341=) | |
1 | g.197088352T>G | CA343998213 | ASPM | n.3352A>C c.10065A>C (p.Glu3355Asp) c.10287A>C (p.Glu3429Asp) c.10041A>C (p.Glu3347Asp) c.5310A>C (p.Glu1770Asp) c.3060A>C (p.Glu1020Asp) c.4023A>C (p.Glu1341Asp) | |
1 | g.197088353T>A | CA343998217 | ASPM | n.3351A>T c.10064A>T (p.Glu3355Val) c.10286A>T (p.Glu3429Val) c.10040A>T (p.Glu3347Val) c.5309A>T (p.Glu1770Val) c.3059A>T (p.Glu1020Val) c.4022A>T (p.Glu1341Val) | |
1 | g.197088353T>C | CA343998233 | ASPM | n.3351A>G c.10064A>G (p.Glu3355Gly) c.10286A>G (p.Glu3429Gly) c.10040A>G (p.Glu3347Gly) c.5309A>G (p.Glu1770Gly) c.3059A>G (p.Glu1020Gly) c.4022A>G (p.Glu1341Gly) | |
1 | g.197088353T>G | CA343998235 | ASPM | n.3351A>C c.10064A>C (p.Glu3355Ala) c.10286A>C (p.Glu3429Ala) c.10040A>C (p.Glu3347Ala) c.5309A>C (p.Glu1770Ala) c.3059A>C (p.Glu1020Ala) c.4022A>C (p.Glu1341Ala) | |
1 | g.197088354C>A | CA343998250 | ASPM | n.3350G>T c.10063G>T (p.Glu3355Ter) c.10285G>T (p.Glu3429Ter) c.10039G>T (p.Glu3347Ter) c.5308G>T (p.Glu1770Ter) c.3058G>T (p.Glu1020Ter) c.4021G>T (p.Glu1341Ter) | gnomAD v4 |
1 | g.197088354C>G | CA343998242 | ASPM | n.3350G>C c.10063G>C (p.Glu3355Gln) c.10285G>C (p.Glu3429Gln) c.10039G>C (p.Glu3347Gln) c.5308G>C (p.Glu1770Gln) c.3058G>C (p.Glu1020Gln) c.4021G>C (p.Glu1341Gln) | dbSNP |
1 | g.197088354C>T | CA343998240 | ASPM | n.3350G>A c.10063G>A (p.Glu3355Lys) c.10285G>A (p.Glu3429Lys) c.10039G>A (p.Glu3347Lys) c.5308G>A (p.Glu1770Lys) c.3058G>A (p.Glu1020Lys) c.4021G>A (p.Glu1341Lys) | |
1 | g.197088355T>A | CA422672202 | ASPM | n.3349A>T c.10062A>T (p.Arg3354=) c.10284A>T (p.Arg3428=) c.10038A>T (p.Arg3346=) c.5307A>T (p.Arg1769=) c.3057A>T (p.Arg1019=) c.4020A>T (p.Arg1340=) | |
1 | g.197088355T>C | CA422672203 | ASPM | n.3349A>G c.10062A>G (p.Arg3354=) c.10284A>G (p.Arg3428=) c.10038A>G (p.Arg3346=) c.5307A>G (p.Arg1769=) c.3057A>G (p.Arg1019=) c.4020A>G (p.Arg1340=) | |
1 | g.197088355T>G | CA422672204 | ASPM | n.3349A>C c.10062A>C (p.Arg3354=) c.10284A>C (p.Arg3428=) c.10038A>C (p.Arg3346=) c.5307A>C (p.Arg1769=) c.3057A>C (p.Arg1019=) c.4020A>C (p.Arg1340=) | dbSNP |
1 | g.197088355T= | CA1217923553 | ASPM | n.3349A= c.10062A= (p.Arg3354=) c.10284A= (p.Arg3428=) c.10038A= (p.Arg3346=) c.5307A= (p.Arg1769=) c.3057A= (p.Arg1019=) c.4020A= (p.Arg1340=) | |
1 | g.197088356C>A | CA343998253 | ASPM | n.3348G>T c.10061G>T (p.Arg3354Leu) c.10283G>T (p.Arg3428Leu) c.10037G>T (p.Arg3346Leu) c.5306G>T (p.Arg1769Leu) c.3056G>T (p.Arg1019Leu) c.4019G>T (p.Arg1340Leu) | |
1 | g.197088356C= | CA1145048603 | ASPM | n.3348G= c.10061G= (p.Arg3354=) c.10283G= (p.Arg3428=) c.10037G= (p.Arg3346=) c.5306G= (p.Arg1769=) c.3056G= (p.Arg1019=) c.4019G= (p.Arg1340=) | |
1 | g.197088356C>G | CA343998258 | ASPM | n.3348G>C c.10061G>C (p.Arg3354Pro) c.10283G>C (p.Arg3428Pro) c.10037G>C (p.Arg3346Pro) c.5306G>C (p.Arg1769Pro) c.3056G>C (p.Arg1019Pro) c.4019G>C (p.Arg1340Pro) | |
1 | g.197088356C>T | CA1308799 | ASPM | n.3348G>A c.10061G>A (p.Arg3354Gln) c.10283G>A (p.Arg3428Gln) c.10037G>A (p.Arg3346Gln) c.5306G>A (p.Arg1769Gln) c.3056G>A (p.Arg1019Gln) c.4019G>A (p.Arg1340Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088357G>A | CA277313 | ASPM | n.3347C>T c.10060C>T (p.Arg3354Ter) c.10282C>T (p.Arg3428Ter) c.10036C>T (p.Arg3346Ter) c.5305C>T (p.Arg1769Ter) c.3055C>T (p.Arg1019Ter) c.4018C>T (p.Arg1340Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088357G>C | CA343998266 | ASPM | n.3347C>G c.10060C>G (p.Arg3354Gly) c.10282C>G (p.Arg3428Gly) c.10036C>G (p.Arg3346Gly) c.5305C>G (p.Arg1769Gly) c.3055C>G (p.Arg1019Gly) c.4018C>G (p.Arg1340Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088357G= | CA1148890069 | ASPM | n.3347C= c.10060C= (p.Arg3354=) c.10282C= (p.Arg3428=) c.10036C= (p.Arg3346=) c.5305C= (p.Arg1769=) c.3055C= (p.Arg1019=) c.4018C= (p.Arg1340=) | |
1 | g.197088357G>T | CA422672205 | ASPM | n.3347C>A c.10060C>A (p.Arg3354=) c.10282C>A (p.Arg3428=) c.10036C>A (p.Arg3346=) c.5305C>A (p.Arg1769=) c.3055C>A (p.Arg1019=) c.4018C>A (p.Arg1340=) | |
1 | g.197088358G>A | CA422672206 | ASPM | n.3346C>T c.10059C>T (p.Tyr3353=) c.10281C>T (p.Tyr3427=) c.10035C>T (p.Tyr3345=) c.5304C>T (p.Tyr1768=) c.3054C>T (p.Tyr1018=) c.4017C>T (p.Tyr1339=) | |
1 | g.197088358G>C | CA343998269 | ASPM | n.3346C>G c.10059C>G (p.Tyr3353Ter) c.10281C>G (p.Tyr3427Ter) c.10035C>G (p.Tyr3345Ter) c.5304C>G (p.Tyr1768Ter) c.3054C>G (p.Tyr1018Ter) c.4017C>G (p.Tyr1339Ter) | |
1 | g.197088358G= | CA1143355779 | ASPM | n.3346C= c.10059C= (p.Tyr3353=) c.10281C= (p.Tyr3427=) c.10035C= (p.Tyr3345=) c.5304C= (p.Tyr1768=) c.3054C= (p.Tyr1018=) c.4017C= (p.Tyr1339=) | |
1 | g.197088358G>T | CA342211 | ASPM | n.3346C>A c.10059C>A (p.Tyr3353Ter) c.10281C>A (p.Tyr3427Ter) c.10035C>A (p.Tyr3345Ter) c.5304C>A (p.Tyr1768Ter) c.3054C>A (p.Tyr1018Ter) c.4017C>A (p.Tyr1339Ter) | ClinVar dbSNP |
1 | g.197088359T>A | CA343998277 | ASPM | n.3345A>T c.10058A>T (p.Tyr3353Phe) c.10280A>T (p.Tyr3427Phe) c.10034A>T (p.Tyr3345Phe) c.5303A>T (p.Tyr1768Phe) c.3053A>T (p.Tyr1018Phe) c.4016A>T (p.Tyr1339Phe) | |
1 | g.197088359T>C | CA343998285 | ASPM | n.3345A>G c.10058A>G (p.Tyr3353Cys) c.10280A>G (p.Tyr3427Cys) c.10034A>G (p.Tyr3345Cys) c.5303A>G (p.Tyr1768Cys) c.3053A>G (p.Tyr1018Cys) c.4016A>G (p.Tyr1339Cys) | |
1 | g.197088359T>G | CA343998282 | ASPM | n.3345A>C c.10058A>C (p.Tyr3353Ser) c.10280A>C (p.Tyr3427Ser) c.10034A>C (p.Tyr3345Ser) c.5303A>C (p.Tyr1768Ser) c.3053A>C (p.Tyr1018Ser) c.4016A>C (p.Tyr1339Ser) | |
1 | g.197088362_197088363del | CA2649660432 | ASPM | n.3344_3345del c.10057_10058del (p.Tyr3353ProfsTer6) c.10279_10280del (p.Tyr3427ProfsTer6) c.10033_10034del (p.Tyr3345ProfsTer6) c.5302_5303del (p.Tyr1768ProfsTer6) c.3052_3053del (p.Tyr1018ProfsTer6) c.4015_4016del (p.Tyr1339ProfsTer6) | gnomAD v4 |
1 | g.197088360A= | CA1141792598 | ASPM | n.3344T= c.10057T= (p.Tyr3353=) c.10279T= (p.Tyr3427=) c.10033T= (p.Tyr3345=) c.5302T= (p.Tyr1768=) c.3052T= (p.Tyr1018=) c.4015T= (p.Tyr1339=) | |
1 | g.197088360A>C | CA343998288 | ASPM | n.3344T>G c.10057T>G (p.Tyr3353Asp) c.10279T>G (p.Tyr3427Asp) c.10033T>G (p.Tyr3345Asp) c.5302T>G (p.Tyr1768Asp) c.3052T>G (p.Tyr1018Asp) c.4015T>G (p.Tyr1339Asp) | |
1 | g.197088360A>G | CA1308800 | ASPM | n.3344T>C c.10057T>C (p.Tyr3353His) c.10279T>C (p.Tyr3427His) c.10033T>C (p.Tyr3345His) c.5302T>C (p.Tyr1768His) c.3052T>C (p.Tyr1018His) c.4015T>C (p.Tyr1339His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088360A>T | CA343998293 | ASPM | n.3344T>A c.10057T>A (p.Tyr3353Asn) c.10279T>A (p.Tyr3427Asn) c.10033T>A (p.Tyr3345Asn) c.5302T>A (p.Tyr1768Asn) c.3052T>A (p.Tyr1018Asn) c.4015T>A (p.Tyr1339Asn) | |
1 | g.197088361T>A | CA422672208 | ASPM | n.3343A>T c.10056A>T (p.Ile3352=) c.10278A>T (p.Ile3426=) c.10032A>T (p.Ile3344=) c.5301A>T (p.Ile1767=) c.3051A>T (p.Ile1017=) c.4014A>T (p.Ile1338=) | |
1 | g.197088361T>C | CA1308801 | ASPM | n.3343A>G c.10056A>G (p.Ile3352Met) c.10278A>G (p.Ile3426Met) c.10032A>G (p.Ile3344Met) c.5301A>G (p.Ile1767Met) c.3051A>G (p.Ile1017Met) c.4014A>G (p.Ile1338Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088361T>G | CA422672207 | ASPM | n.3343A>C c.10056A>C (p.Ile3352=) c.10278A>C (p.Ile3426=) c.10032A>C (p.Ile3344=) c.5301A>C (p.Ile1767=) c.3051A>C (p.Ile1017=) c.4014A>C (p.Ile1338=) | |
1 | g.197088361T= | CA1217923561 | ASPM | n.3343A= c.10056A= (p.Ile3352=) c.10278A= (p.Ile3426=) c.10032A= (p.Ile3344=) c.5301A= (p.Ile1767=) c.3051A= (p.Ile1017=) c.4014A= (p.Ile1338=) | |
1 | g.197088361_197088362insCC | CA1308802 | ASPM | n.3342_3343insGG c.10055_10056insGG (p.Ile3352MetfsTer30) c.10277_10278insGG (p.Ile3426MetfsTer30) c.10031_10032insGG (p.Ile3344MetfsTer30) c.5300_5301insGG (p.Ile1767MetfsTer30) c.3050_3051insGG (p.Ile1017MetfsTer30) c.4013_4014insGG (p.Ile1338MetfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088362A>C | CA343998313 | ASPM | n.3342T>G c.10055T>G (p.Ile3352Arg) c.10277T>G (p.Ile3426Arg) c.10031T>G (p.Ile3344Arg) c.5300T>G (p.Ile1767Arg) c.3050T>G (p.Ile1017Arg) c.4013T>G (p.Ile1338Arg) | |
1 | g.197088362A>G | CA343998310 | ASPM | n.3342T>C c.10055T>C (p.Ile3352Thr) c.10277T>C (p.Ile3426Thr) c.10031T>C (p.Ile3344Thr) c.5300T>C (p.Ile1767Thr) c.3050T>C (p.Ile1017Thr) c.4013T>C (p.Ile1338Thr) | |
1 | g.197088362A>T | CA343998303 | ASPM | n.3342T>A c.10055T>A (p.Ile3352Lys) c.10277T>A (p.Ile3426Lys) c.10031T>A (p.Ile3344Lys) c.5300T>A (p.Ile1767Lys) c.3050T>A (p.Ile1017Lys) c.4013T>A (p.Ile1338Lys) | |
1 | g.197088363T>A | CA343998318 | ASPM | n.3341A>T c.10054A>T (p.Ile3352Leu) c.10276A>T (p.Ile3426Leu) c.10030A>T (p.Ile3344Leu) c.5299A>T (p.Ile1767Leu) c.3049A>T (p.Ile1017Leu) c.4012A>T (p.Ile1338Leu) | |
1 | g.197088363T>C | CA343998320 | ASPM | n.3341A>G c.10054A>G (p.Ile3352Val) c.10276A>G (p.Ile3426Val) c.10030A>G (p.Ile3344Val) c.5299A>G (p.Ile1767Val) c.3049A>G (p.Ile1017Val) c.4012A>G (p.Ile1338Val) | gnomAD v4 |
1 | g.197088363T>G | CA343998323 | ASPM | n.3341A>C c.10054A>C (p.Ile3352Leu) c.10276A>C (p.Ile3426Leu) c.10030A>C (p.Ile3344Leu) c.5299A>C (p.Ile1767Leu) c.3049A>C (p.Ile1017Leu) c.4012A>C (p.Ile1338Leu) | |
1 | g.197088364C>A | CA343998328 | ASPM | n.3340G>T c.10053G>T (p.Gln3351His) c.10275G>T (p.Gln3425His) c.10029G>T (p.Gln3343His) c.5298G>T (p.Gln1766His) c.3048G>T (p.Gln1016His) c.4011G>T (p.Gln1337His) | |
1 | g.197088364C= | CA1148465974 | ASPM | n.3340G= c.10053G= (p.Gln3351=) c.10275G= (p.Gln3425=) c.10029G= (p.Gln3343=) c.5298G= (p.Gln1766=) c.3048G= (p.Gln1016=) c.4011G= (p.Gln1337=) | |
1 | g.197088364C>G | CA343998332 | ASPM | n.3340G>C c.10053G>C (p.Gln3351His) c.10275G>C (p.Gln3425His) c.10029G>C (p.Gln3343His) c.5298G>C (p.Gln1766His) c.3048G>C (p.Gln1016His) c.4011G>C (p.Gln1337His) | COSMIC |
1 | g.197088364C>T | CA1308803 | ASPM | n.3340G>A c.10053G>A (p.Gln3351=) c.10275G>A (p.Gln3425=) c.10029G>A (p.Gln3343=) c.5298G>A (p.Gln1766=) c.3048G>A (p.Gln1016=) c.4011G>A (p.Gln1337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088365T>A | CA343998333 | ASPM | n.3339A>T c.10052A>T (p.Gln3351Leu) c.10274A>T (p.Gln3425Leu) c.10028A>T (p.Gln3343Leu) c.5297A>T (p.Gln1766Leu) c.3047A>T (p.Gln1016Leu) c.4010A>T (p.Gln1337Leu) | |
1 | g.197088365T>C | CA343998335 | ASPM | n.3339A>G c.10052A>G (p.Gln3351Arg) c.10274A>G (p.Gln3425Arg) c.10028A>G (p.Gln3343Arg) c.5297A>G (p.Gln1766Arg) c.3047A>G (p.Gln1016Arg) c.4010A>G (p.Gln1337Arg) | |
1 | g.197088365T>G | CA343998339 | ASPM | n.3339A>C c.10052A>C (p.Gln3351Pro) c.10274A>C (p.Gln3425Pro) c.10028A>C (p.Gln3343Pro) c.5297A>C (p.Gln1766Pro) c.3047A>C (p.Gln1016Pro) c.4010A>C (p.Gln1337Pro) | |
1 | g.197088366G>A | CA343998352 | ASPM | n.3338C>T c.10051C>T (p.Gln3351Ter) c.10273C>T (p.Gln3425Ter) c.10027C>T (p.Gln3343Ter) c.5296C>T (p.Gln1766Ter) c.3046C>T (p.Gln1016Ter) c.4009C>T (p.Gln1337Ter) | |
1 | g.197088366G>C | CA343998347 | ASPM | n.3338C>G c.10051C>G (p.Gln3351Glu) c.10273C>G (p.Gln3425Glu) c.10027C>G (p.Gln3343Glu) c.5296C>G (p.Gln1766Glu) c.3046C>G (p.Gln1016Glu) c.4009C>G (p.Gln1337Glu) | |
1 | g.197088366G>T | CA343998344 | ASPM | n.3338C>A c.10051C>A (p.Gln3351Lys) c.10273C>A (p.Gln3425Lys) c.10027C>A (p.Gln3343Lys) c.5296C>A (p.Gln1766Lys) c.3046C>A (p.Gln1016Lys) c.4009C>A (p.Gln1337Lys) | |
1 | g.197088367C>A | CA343998354 | ASPM | n.3337G>T c.10050G>T (p.Leu3350Phe) c.10272G>T (p.Leu3424Phe) c.10026G>T (p.Leu3342Phe) c.5295G>T (p.Leu1765Phe) c.3045G>T (p.Leu1015Phe) c.4008G>T (p.Leu1336Phe) | |
1 | g.197088367C= | CA1217923566 | ASPM | n.3337G= c.10050G= (p.Leu3350=) c.10272G= (p.Leu3424=) c.10026G= (p.Leu3342=) c.5295G= (p.Leu1765=) c.3045G= (p.Leu1015=) c.4008G= (p.Leu1336=) | |
1 | g.197088367C>G | CA343998357 | ASPM | n.3337G>C c.10050G>C (p.Leu3350Phe) c.10272G>C (p.Leu3424Phe) c.10026G>C (p.Leu3342Phe) c.5295G>C (p.Leu1765Phe) c.3045G>C (p.Leu1015Phe) c.4008G>C (p.Leu1336Phe) | |
1 | g.197088367C>T | CA35861089 | ASPM | n.3337G>A c.10050G>A (p.Leu3350=) c.10272G>A (p.Leu3424=) c.10026G>A (p.Leu3342=) c.5295G>A (p.Leu1765=) c.3045G>A (p.Leu1015=) c.4008G>A (p.Leu1336=) | dbSNP |
1 | g.197088368A>C | CA343998362 | ASPM | n.3336T>G c.10049T>G (p.Leu3350Trp) c.10271T>G (p.Leu3424Trp) c.10025T>G (p.Leu3342Trp) c.5294T>G (p.Leu1765Trp) c.3044T>G (p.Leu1015Trp) c.4007T>G (p.Leu1336Trp) | |
1 | g.197088368A>G | CA343998373 | ASPM | n.3336T>C c.10049T>C (p.Leu3350Ser) c.10271T>C (p.Leu3424Ser) c.10025T>C (p.Leu3342Ser) c.5294T>C (p.Leu1765Ser) c.3044T>C (p.Leu1015Ser) c.4007T>C (p.Leu1336Ser) | |
1 | g.197088368A>T | CA343998386 | ASPM | n.3336T>A c.10049T>A (p.Leu3350Ter) c.10271T>A (p.Leu3424Ter) c.10025T>A (p.Leu3342Ter) c.5294T>A (p.Leu1765Ter) c.3044T>A (p.Leu1015Ter) c.4007T>A (p.Leu1336Ter) | |
1 | g.197088371del | CA2649660433 | ASPM | n.3336del c.10049del (p.Leu3350CysfsTer?) c.10271del (p.Leu3424CysfsTer?) c.10025del (p.Leu3342CysfsTer?) c.5294del (p.Leu1765CysfsTer?) c.3044del (p.Leu1015CysfsTer?) c.4007del (p.Leu1336CysfsTer?) | gnomAD v4 |
1 | g.197088369A>C | CA343998397 | ASPM | n.3335T>G c.10048T>G (p.Leu3350Val) c.10270T>G (p.Leu3424Val) c.10024T>G (p.Leu3342Val) c.5293T>G (p.Leu1765Val) c.3043T>G (p.Leu1015Val) c.4006T>G (p.Leu1336Val) | |
1 | g.197088369A>G | CA422672209 | ASPM | n.3335T>C c.10048T>C (p.Leu3350=) c.10270T>C (p.Leu3424=) c.10024T>C (p.Leu3342=) c.5293T>C (p.Leu1765=) c.3043T>C (p.Leu1015=) c.4006T>C (p.Leu1336=) | |
1 | g.197088369A>T | CA343998399 | ASPM | n.3335T>A c.10048T>A (p.Leu3350Met) c.10270T>A (p.Leu3424Met) c.10024T>A (p.Leu3342Met) c.5293T>A (p.Leu1765Met) c.3043T>A (p.Leu1015Met) c.4006T>A (p.Leu1336Met) | |
1 | g.197088370A>C | CA422672210 | ASPM | n.3334T>G c.10047T>G (p.Leu3349=) c.10269T>G (p.Leu3423=) c.10023T>G (p.Leu3341=) c.5292T>G (p.Leu1764=) c.3042T>G (p.Leu1014=) c.4005T>G (p.Leu1335=) | |
1 | g.197088370A>G | CA422672211 | ASPM | n.3334T>C c.10047T>C (p.Leu3349=) c.10269T>C (p.Leu3423=) c.10023T>C (p.Leu3341=) c.5292T>C (p.Leu1764=) c.3042T>C (p.Leu1014=) c.4005T>C (p.Leu1335=) | |
1 | g.197088370A>T | CA422672212 | ASPM | n.3334T>A c.10047T>A (p.Leu3349=) c.10269T>A (p.Leu3423=) c.10023T>A (p.Leu3341=) c.5292T>A (p.Leu1764=) c.3042T>A (p.Leu1014=) c.4005T>A (p.Leu1335=) | |
1 | g.197088371A>C | CA343998409 | ASPM | n.3333T>G c.10046T>G (p.Leu3349Arg) c.10268T>G (p.Leu3423Arg) c.10022T>G (p.Leu3341Arg) c.5291T>G (p.Leu1764Arg) c.3041T>G (p.Leu1014Arg) c.4004T>G (p.Leu1335Arg) | |
1 | g.197088371A>G | CA343998407 | ASPM | n.3333T>C c.10046T>C (p.Leu3349Pro) c.10268T>C (p.Leu3423Pro) c.10022T>C (p.Leu3341Pro) c.5291T>C (p.Leu1764Pro) c.3041T>C (p.Leu1014Pro) c.4004T>C (p.Leu1335Pro) | |
1 | g.197088371A>T | CA343998408 | ASPM | n.3333T>A c.10046T>A (p.Leu3349His) c.10268T>A (p.Leu3423His) c.10022T>A (p.Leu3341His) c.5291T>A (p.Leu1764His) c.3041T>A (p.Leu1014His) c.4004T>A (p.Leu1335His) | |
1 | g.197088372G>A | CA343998410 | ASPM | n.3332C>T c.10045C>T (p.Leu3349Phe) c.10267C>T (p.Leu3423Phe) c.10021C>T (p.Leu3341Phe) c.5290C>T (p.Leu1764Phe) c.3040C>T (p.Leu1014Phe) c.4003C>T (p.Leu1335Phe) | |
1 | g.197088372G>C | CA343998411 | ASPM | n.3332C>G c.10045C>G (p.Leu3349Val) c.10267C>G (p.Leu3423Val) c.10021C>G (p.Leu3341Val) c.5290C>G (p.Leu1764Val) c.3040C>G (p.Leu1014Val) c.4003C>G (p.Leu1335Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088372G= | CA1217923568 | ASPM | n.3332C= c.10045C= (p.Leu3349=) c.10267C= (p.Leu3423=) c.10021C= (p.Leu3341=) c.5290C= (p.Leu1764=) c.3040C= (p.Leu1014=) c.4003C= (p.Leu1335=) | |
1 | g.197088372G>T | CA343998414 | ASPM | n.3332C>A c.10045C>A (p.Leu3349Ile) c.10267C>A (p.Leu3423Ile) c.10021C>A (p.Leu3341Ile) c.5290C>A (p.Leu1764Ile) c.3040C>A (p.Leu1014Ile) c.4003C>A (p.Leu1335Ile) | |
1 | g.197088373C>A | CA343998418 | ASPM | n.3331G>T c.10044G>T (p.Glu3348Asp) c.10266G>T (p.Glu3422Asp) c.10020G>T (p.Glu3340Asp) c.5289G>T (p.Glu1763Asp) c.3039G>T (p.Glu1013Asp) c.4002G>T (p.Glu1334Asp) | dbSNP |
1 | g.197088373C= | CA1217923570 | ASPM | n.3331G= c.10044G= (p.Glu3348=) c.10266G= (p.Glu3422=) c.10020G= (p.Glu3340=) c.5289G= (p.Glu1763=) c.3039G= (p.Glu1013=) c.4002G= (p.Glu1334=) | |
1 | g.197088373C>G | CA343998420 | ASPM | n.3331G>C c.10044G>C (p.Glu3348Asp) c.10266G>C (p.Glu3422Asp) c.10020G>C (p.Glu3340Asp) c.5289G>C (p.Glu1763Asp) c.3039G>C (p.Glu1013Asp) c.4002G>C (p.Glu1334Asp) | |
1 | g.197088373C>T | CA422672213 | ASPM | n.3331G>A c.10044G>A (p.Glu3348=) c.10266G>A (p.Glu3422=) c.10020G>A (p.Glu3340=) c.5289G>A (p.Glu1763=) c.3039G>A (p.Glu1013=) c.4002G>A (p.Glu1334=) | |
1 | g.197088374T>A | CA343998423 | ASPM | n.3330A>T c.10043A>T (p.Glu3348Val) c.10265A>T (p.Glu3422Val) c.10019A>T (p.Glu3340Val) c.5288A>T (p.Glu1763Val) c.3038A>T (p.Glu1013Val) c.4001A>T (p.Glu1334Val) | |
1 | g.197088374T>C | CA343998432 | ASPM | n.3330A>G c.10043A>G (p.Glu3348Gly) c.10265A>G (p.Glu3422Gly) c.10019A>G (p.Glu3340Gly) c.5288A>G (p.Glu1763Gly) c.3038A>G (p.Glu1013Gly) c.4001A>G (p.Glu1334Gly) | gnomAD v4 |
1 | g.197088374T>G | CA343998428 | ASPM | n.3330A>C c.10043A>C (p.Glu3348Ala) c.10265A>C (p.Glu3422Ala) c.10019A>C (p.Glu3340Ala) c.5288A>C (p.Glu1763Ala) c.3038A>C (p.Glu1013Ala) c.4001A>C (p.Glu1334Ala) | |
1 | g.197088375C>A | CA343998436 | ASPM | n.3329G>T c.10042G>T (p.Glu3348Ter) c.10264G>T (p.Glu3422Ter) c.10018G>T (p.Glu3340Ter) c.5287G>T (p.Glu1763Ter) c.3037G>T (p.Glu1013Ter) c.4000G>T (p.Glu1334Ter) | |
1 | g.197088375C>G | CA343998439 | ASPM | n.3329G>C c.10042G>C (p.Glu3348Gln) c.10264G>C (p.Glu3422Gln) c.10018G>C (p.Glu3340Gln) c.5287G>C (p.Glu1763Gln) c.3037G>C (p.Glu1013Gln) c.4000G>C (p.Glu1334Gln) | |
1 | g.197088375C>T | CA343998443 | ASPM | n.3329G>A c.10042G>A (p.Glu3348Lys) c.10264G>A (p.Glu3422Lys) c.10018G>A (p.Glu3340Lys) c.5287G>A (p.Glu1763Lys) c.3037G>A (p.Glu1013Lys) c.4000G>A (p.Glu1334Lys) | |
1 | g.197088376C>A | CA343998446 | ASPM | n.3328G>T c.10041G>T (p.Leu3347Phe) c.10263G>T (p.Leu3421Phe) c.10017G>T (p.Leu3339Phe) c.5286G>T (p.Leu1762Phe) c.3036G>T (p.Leu1012Phe) c.3999G>T (p.Leu1333Phe) | |
1 | g.197088376C= | CA1143210877 | ASPM | n.3328G= c.10041G= (p.Leu3347=) c.10263G= (p.Leu3421=) c.10017G= (p.Leu3339=) c.5286G= (p.Leu1762=) c.3036G= (p.Leu1012=) c.3999G= (p.Leu1333=) | |
1 | g.197088376C>G | CA343998449 | ASPM | n.3328G>C c.10041G>C (p.Leu3347Phe) c.10263G>C (p.Leu3421Phe) c.10017G>C (p.Leu3339Phe) c.5286G>C (p.Leu1762Phe) c.3036G>C (p.Leu1012Phe) c.3999G>C (p.Leu1333Phe) | |
1 | g.197088376C>T | CA1308804 | ASPM | n.3328G>A c.10041G>A (p.Leu3347=) c.10263G>A (p.Leu3421=) c.10017G>A (p.Leu3339=) c.5286G>A (p.Leu1762=) c.3036G>A (p.Leu1012=) c.3999G>A (p.Leu1333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088377A>C | CA343998463 | ASPM | n.3327T>G c.10040T>G (p.Leu3347Trp) c.10262T>G (p.Leu3421Trp) c.10016T>G (p.Leu3339Trp) c.5285T>G (p.Leu1762Trp) c.3035T>G (p.Leu1012Trp) c.3998T>G (p.Leu1333Trp) | |
1 | g.197088377A>G | CA343998484 | ASPM | n.3327T>C c.10040T>C (p.Leu3347Ser) c.10262T>C (p.Leu3421Ser) c.10016T>C (p.Leu3339Ser) c.5285T>C (p.Leu1762Ser) c.3035T>C (p.Leu1012Ser) c.3998T>C (p.Leu1333Ser) | gnomAD v4 |
1 | g.197088377A>T | CA343998491 | ASPM | n.3327T>A c.10040T>A (p.Leu3347Ter) c.10262T>A (p.Leu3421Ter) c.10016T>A (p.Leu3339Ter) c.5285T>A (p.Leu1762Ter) c.3035T>A (p.Leu1012Ter) c.3998T>A (p.Leu1333Ter) | |
1 | g.197088378A= | CA1217923574 | ASPM | n.3326T= c.10039T= (p.Leu3347=) c.10261T= (p.Leu3421=) c.10015T= (p.Leu3339=) c.5284T= (p.Leu1762=) c.3034T= (p.Leu1012=) c.3997T= (p.Leu1333=) | |
1 | g.197088378A>C | CA343998495 | ASPM | n.3326T>G c.10039T>G (p.Leu3347Val) c.10261T>G (p.Leu3421Val) c.10015T>G (p.Leu3339Val) c.5284T>G (p.Leu1762Val) c.3034T>G (p.Leu1012Val) c.3997T>G (p.Leu1333Val) | |
1 | g.197088378A>G | CA10608701 | ASPM | n.3326T>C c.10039T>C (p.Leu3347=) c.10261T>C (p.Leu3421=) c.10015T>C (p.Leu3339=) c.5284T>C (p.Leu1762=) c.3034T>C (p.Leu1012=) c.3997T>C (p.Leu1333=) | ClinVar dbSNP gnomAD v4 |
1 | g.197088378A>T | CA343998506 | ASPM | n.3326T>A c.10039T>A (p.Leu3347Met) c.10261T>A (p.Leu3421Met) c.10015T>A (p.Leu3339Met) c.5284T>A (p.Leu1762Met) c.3034T>A (p.Leu1012Met) c.3997T>A (p.Leu1333Met) | |
1 | g.197088379T>A | CA422672215 | ASPM | n.3325A>T c.10038A>T (p.Leu3346=) c.10260A>T (p.Leu3420=) c.10014A>T (p.Leu3338=) c.5283A>T (p.Leu1761=) c.3033A>T (p.Leu1011=) c.3996A>T (p.Leu1332=) | |
1 | g.197088379T>C | CA422672216 | ASPM | n.3325A>G c.10038A>G (p.Leu3346=) c.10260A>G (p.Leu3420=) c.10014A>G (p.Leu3338=) c.5283A>G (p.Leu1761=) c.3033A>G (p.Leu1011=) c.3996A>G (p.Leu1332=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088379T>G | CA422672217 | ASPM | n.3325A>C c.10038A>C (p.Leu3346=) c.10260A>C (p.Leu3420=) c.10014A>C (p.Leu3338=) c.5283A>C (p.Leu1761=) c.3033A>C (p.Leu1011=) c.3996A>C (p.Leu1332=) | |
1 | g.197088379T= | CA1217923576 | ASPM | n.3325A= c.10038A= (p.Leu3346=) c.10260A= (p.Leu3420=) c.10014A= (p.Leu3338=) c.5283A= (p.Leu1761=) c.3033A= (p.Leu1011=) c.3996A= (p.Leu1332=) | |
1 | g.197088380A>C | CA343998511 | ASPM | n.3324T>G c.10037T>G (p.Leu3346Arg) c.10259T>G (p.Leu3420Arg) c.10013T>G (p.Leu3338Arg) c.5282T>G (p.Leu1761Arg) c.3032T>G (p.Leu1011Arg) c.3995T>G (p.Leu1332Arg) | |
1 | g.197088380A>G | CA343998516 | ASPM | n.3324T>C c.10037T>C (p.Leu3346Pro) c.10259T>C (p.Leu3420Pro) c.10013T>C (p.Leu3338Pro) c.5282T>C (p.Leu1761Pro) c.3032T>C (p.Leu1011Pro) c.3995T>C (p.Leu1332Pro) | gnomAD v4 |
1 | g.197088380A>T | CA343998513 | ASPM | n.3324T>A c.10037T>A (p.Leu3346Gln) c.10259T>A (p.Leu3420Gln) c.10013T>A (p.Leu3338Gln) c.5282T>A (p.Leu1761Gln) c.3032T>A (p.Leu1011Gln) c.3995T>A (p.Leu1332Gln) | |
1 | g.197088381G>A | CA422672218 | ASPM | n.3323C>T c.10036C>T (p.Leu3346=) c.10258C>T (p.Leu3420=) c.10012C>T (p.Leu3338=) c.5281C>T (p.Leu1761=) c.3031C>T (p.Leu1011=) c.3994C>T (p.Leu1332=) | |
1 | g.197088381G>C | CA343998525 | ASPM | n.3323C>G c.10036C>G (p.Leu3346Val) c.10258C>G (p.Leu3420Val) c.10012C>G (p.Leu3338Val) c.5281C>G (p.Leu1761Val) c.3031C>G (p.Leu1011Val) c.3994C>G (p.Leu1332Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088381G= | CA1217923579 | ASPM | n.3323C= c.10036C= (p.Leu3346=) c.10258C= (p.Leu3420=) c.10012C= (p.Leu3338=) c.5281C= (p.Leu1761=) c.3031C= (p.Leu1011=) c.3994C= (p.Leu1332=) | |
1 | g.197088381G>T | CA343998527 | ASPM | n.3323C>A c.10036C>A (p.Leu3346Ile) c.10258C>A (p.Leu3420Ile) c.10012C>A (p.Leu3338Ile) c.5281C>A (p.Leu1761Ile) c.3031C>A (p.Leu1011Ile) c.3994C>A (p.Leu1332Ile) | |
1 | g.197088382T>A | CA422672219 | ASPM | n.3322A>T c.10035A>T (p.Ile3345=) c.10257A>T (p.Ile3419=) c.10011A>T (p.Ile3337=) c.5280A>T (p.Ile1760=) c.3030A>T (p.Ile1010=) c.3993A>T (p.Ile1331=) | |
1 | g.197088382T>C | CA343998528 | ASPM | n.3322A>G c.10035A>G (p.Ile3345Met) c.10257A>G (p.Ile3419Met) c.10011A>G (p.Ile3337Met) c.5280A>G (p.Ile1760Met) c.3030A>G (p.Ile1010Met) c.3993A>G (p.Ile1331Met) | |
1 | g.197088382T>G | CA422672220 | ASPM | n.3322A>C c.10035A>C (p.Ile3345=) c.10257A>C (p.Ile3419=) c.10011A>C (p.Ile3337=) c.5280A>C (p.Ile1760=) c.3030A>C (p.Ile1010=) c.3993A>C (p.Ile1331=) | |
1 | g.197088383A= | CA1217923580 | ASPM | n.3321T= c.10034T= (p.Ile3345=) c.10256T= (p.Ile3419=) c.10010T= (p.Ile3337=) c.5279T= (p.Ile1760=) c.3029T= (p.Ile1010=) c.3992T= (p.Ile1331=) | |
1 | g.197088383A>C | CA343998529 | ASPM | n.3321T>G c.10034T>G (p.Ile3345Arg) c.10256T>G (p.Ile3419Arg) c.10010T>G (p.Ile3337Arg) c.5279T>G (p.Ile1760Arg) c.3029T>G (p.Ile1010Arg) c.3992T>G (p.Ile1331Arg) | |
1 | g.197088383A>G | CA343998532 | ASPM | n.3321T>C c.10034T>C (p.Ile3345Thr) c.10256T>C (p.Ile3419Thr) c.10010T>C (p.Ile3337Thr) c.5279T>C (p.Ile1760Thr) c.3029T>C (p.Ile1010Thr) c.3992T>C (p.Ile1331Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088383A>T | CA343998535 | ASPM | n.3321T>A c.10034T>A (p.Ile3345Lys) c.10256T>A (p.Ile3419Lys) c.10010T>A (p.Ile3337Lys) c.5279T>A (p.Ile1760Lys) c.3029T>A (p.Ile1010Lys) c.3992T>A (p.Ile1331Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.197088384del | CA2573629514 | ASPM | n.3320del c.10033del (p.Ile3345TyrfsTer?) c.10255del (p.Ile3419TyrfsTer?) c.10009del (p.Ile3337TyrfsTer?) c.5278del (p.Ile1760TyrfsTer?) c.3028del (p.Ile1010TyrfsTer?) c.3991del (p.Ile1331TyrfsTer?) | |
1 | g.197088384T>A | CA343998539 | ASPM | n.3320A>T c.10033A>T (p.Ile3345Leu) c.10255A>T (p.Ile3419Leu) c.10009A>T (p.Ile3337Leu) c.5278A>T (p.Ile1760Leu) c.3028A>T (p.Ile1010Leu) c.3991A>T (p.Ile1331Leu) | |
1 | g.197088384T>C | CA343998541 | ASPM | n.3320A>G c.10033A>G (p.Ile3345Val) c.10255A>G (p.Ile3419Val) c.10009A>G (p.Ile3337Val) c.5278A>G (p.Ile1760Val) c.3028A>G (p.Ile1010Val) c.3991A>G (p.Ile1331Val) | |
1 | g.197088384T>G | CA343998549 | ASPM | n.3320A>C c.10033A>C (p.Ile3345Leu) c.10255A>C (p.Ile3419Leu) c.10009A>C (p.Ile3337Leu) c.5278A>C (p.Ile1760Leu) c.3028A>C (p.Ile1010Leu) c.3991A>C (p.Ile1331Leu) | |
1 | g.197088385A>C | CA343998552 | ASPM | n.3319T>G c.10032T>G (p.Asp3344Glu) c.10254T>G (p.Asp3418Glu) c.10008T>G (p.Asp3336Glu) c.5277T>G (p.Asp1759Glu) c.3027T>G (p.Asp1009Glu) c.3990T>G (p.Asp1330Glu) | |
1 | g.197088385A>G | CA422672221 | ASPM | n.3319T>C c.10032T>C (p.Asp3344=) c.10254T>C (p.Asp3418=) c.10008T>C (p.Asp3336=) c.5277T>C (p.Asp1759=) c.3027T>C (p.Asp1009=) c.3990T>C (p.Asp1330=) | |
1 | g.197088385A>T | CA343998553 | ASPM | n.3319T>A c.10032T>A (p.Asp3344Glu) c.10254T>A (p.Asp3418Glu) c.10008T>A (p.Asp3336Glu) c.5277T>A (p.Asp1759Glu) c.3027T>A (p.Asp1009Glu) c.3990T>A (p.Asp1330Glu) | |
1 | g.197088386T>A | CA343998557 | ASPM | n.3318A>T c.10031A>T (p.Asp3344Val) c.10253A>T (p.Asp3418Val) c.10007A>T (p.Asp3336Val) c.5276A>T (p.Asp1759Val) c.3026A>T (p.Asp1009Val) c.3989A>T (p.Asp1330Val) | |
1 | g.197088386T>C | CA343998556 | ASPM | n.3318A>G c.10031A>G (p.Asp3344Gly) c.10253A>G (p.Asp3418Gly) c.10007A>G (p.Asp3336Gly) c.5276A>G (p.Asp1759Gly) c.3026A>G (p.Asp1009Gly) c.3989A>G (p.Asp1330Gly) | gnomAD v4 |
1 | g.197088386T>G | CA35861095 | ASPM | n.3318A>C c.10031A>C (p.Asp3344Ala) c.10253A>C (p.Asp3418Ala) c.10007A>C (p.Asp3336Ala) c.5276A>C (p.Asp1759Ala) c.3026A>C (p.Asp1009Ala) c.3989A>C (p.Asp1330Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088386T= | CA1217923583 | ASPM | n.3318A= c.10031A= (p.Asp3344=) c.10253A= (p.Asp3418=) c.10007A= (p.Asp3336=) c.5276A= (p.Asp1759=) c.3026A= (p.Asp1009=) c.3989A= (p.Asp1330=) | |
1 | g.197088387C>A | CA343998559 | ASPM | n.3317G>T c.10030G>T (p.Asp3344Tyr) c.10252G>T (p.Asp3418Tyr) c.10006G>T (p.Asp3336Tyr) c.5275G>T (p.Asp1759Tyr) c.3025G>T (p.Asp1009Tyr) c.3988G>T (p.Asp1330Tyr) | |
1 | g.197088387C>G | CA343998560 | ASPM | n.3317G>C c.10030G>C (p.Asp3344His) c.10252G>C (p.Asp3418His) c.10006G>C (p.Asp3336His) c.5275G>C (p.Asp1759His) c.3025G>C (p.Asp1009His) c.3988G>C (p.Asp1330His) | |
1 | g.197088387C>T | CA343998561 | ASPM | n.3317G>A c.10030G>A (p.Asp3344Asn) c.10252G>A (p.Asp3418Asn) c.10006G>A (p.Asp3336Asn) c.5275G>A (p.Asp1759Asn) c.3025G>A (p.Asp1009Asn) c.3988G>A (p.Asp1330Asn) | |
1 | g.197088388T>A | CA422672223 | ASPM | n.3316A>T c.10029A>T (p.Ile3343=) c.10251A>T (p.Ile3417=) c.10005A>T (p.Ile3335=) c.5274A>T (p.Ile1758=) c.3024A>T (p.Ile1008=) c.3987A>T (p.Ile1329=) | |
1 | g.197088388T>C | CA35861098 | ASPM | n.3316A>G c.10029A>G (p.Ile3343Met) c.10251A>G (p.Ile3417Met) c.10005A>G (p.Ile3335Met) c.5274A>G (p.Ile1758Met) c.3024A>G (p.Ile1008Met) c.3987A>G (p.Ile1329Met) | dbSNP gnomAD v4 |
1 | g.197088388T>G | CA422672222 | ASPM | n.3316A>C c.10029A>C (p.Ile3343=) c.10251A>C (p.Ile3417=) c.10005A>C (p.Ile3335=) c.5274A>C (p.Ile1758=) c.3024A>C (p.Ile1008=) c.3987A>C (p.Ile1329=) | |
1 | g.197088388T= | CA1217923585 | ASPM | n.3316A= c.10029A= (p.Ile3343=) c.10251A= (p.Ile3417=) c.10005A= (p.Ile3335=) c.5274A= (p.Ile1758=) c.3024A= (p.Ile1008=) c.3987A= (p.Ile1329=) | |
1 | g.197088389A= | CA1217923587 | ASPM | n.3315T= c.10028T= (p.Ile3343=) c.10250T= (p.Ile3417=) c.10004T= (p.Ile3335=) c.5273T= (p.Ile1758=) c.3023T= (p.Ile1008=) c.3986T= (p.Ile1329=) | |
1 | g.197088389A>C | CA343998562 | ASPM | n.3315T>G c.10028T>G (p.Ile3343Arg) c.10250T>G (p.Ile3417Arg) c.10004T>G (p.Ile3335Arg) c.5273T>G (p.Ile1758Arg) c.3023T>G (p.Ile1008Arg) c.3986T>G (p.Ile1329Arg) | |
1 | g.197088389A>G | CA1308805 | ASPM | n.3315T>C c.10028T>C (p.Ile3343Thr) c.10250T>C (p.Ile3417Thr) c.10004T>C (p.Ile3335Thr) c.5273T>C (p.Ile1758Thr) c.3023T>C (p.Ile1008Thr) c.3986T>C (p.Ile1329Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088389A>T | CA343998563 | ASPM | n.3315T>A c.10028T>A (p.Ile3343Lys) c.10250T>A (p.Ile3417Lys) c.10004T>A (p.Ile3335Lys) c.5273T>A (p.Ile1758Lys) c.3023T>A (p.Ile1008Lys) c.3986T>A (p.Ile1329Lys) | |
1 | g.197088390T>A | CA343998564 | ASPM | n.3314A>T c.10027A>T (p.Ile3343Leu) c.10249A>T (p.Ile3417Leu) c.10003A>T (p.Ile3335Leu) c.5272A>T (p.Ile1758Leu) c.3022A>T (p.Ile1008Leu) c.3985A>T (p.Ile1329Leu) | |
1 | g.197088390T>C | CA343998565 | ASPM | n.3314A>G c.10027A>G (p.Ile3343Val) c.10249A>G (p.Ile3417Val) c.10003A>G (p.Ile3335Val) c.5272A>G (p.Ile1758Val) c.3022A>G (p.Ile1008Val) c.3985A>G (p.Ile1329Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197088390T>G | CA343998568 | ASPM | n.3314A>C c.10027A>C (p.Ile3343Leu) c.10249A>C (p.Ile3417Leu) c.10003A>C (p.Ile3335Leu) c.5272A>C (p.Ile1758Leu) c.3022A>C (p.Ile1008Leu) c.3985A>C (p.Ile1329Leu) | |
1 | g.197088390T= | CA1217923589 | ASPM | n.3314A= c.10027A= (p.Ile3343=) c.10249A= (p.Ile3417=) c.10003A= (p.Ile3335=) c.5272A= (p.Ile1758=) c.3022A= (p.Ile1008=) c.3985A= (p.Ile1329=) | |
1 | g.197088391A>C | CA343998570 | ASPM | n.3313T>G c.10026T>G (p.Cys3342Trp) c.10248T>G (p.Cys3416Trp) c.10002T>G (p.Cys3334Trp) c.5271T>G (p.Cys1757Trp) c.3021T>G (p.Cys1007Trp) c.3984T>G (p.Cys1328Trp) | |
1 | g.197088391A>G | CA422672224 | ASPM | n.3313T>C c.10026T>C (p.Cys3342=) c.10248T>C (p.Cys3416=) c.10002T>C (p.Cys3334=) c.5271T>C (p.Cys1757=) c.3021T>C (p.Cys1007=) c.3984T>C (p.Cys1328=) | |
1 | g.197088391A>T | CA343998571 | ASPM | n.3313T>A c.10026T>A (p.Cys3342Ter) c.10248T>A (p.Cys3416Ter) c.10002T>A (p.Cys3334Ter) c.5271T>A (p.Cys1757Ter) c.3021T>A (p.Cys1007Ter) c.3984T>A (p.Cys1328Ter) | |
1 | g.197088392C>A | CA343998577 | ASPM | n.3312G>T c.10025G>T (p.Cys3342Phe) c.10247G>T (p.Cys3416Phe) c.10001G>T (p.Cys3334Phe) c.5270G>T (p.Cys1757Phe) c.3020G>T (p.Cys1007Phe) c.3983G>T (p.Cys1328Phe) | |
1 | g.197088392C>G | CA343998574 | ASPM | n.3312G>C c.10025G>C (p.Cys3342Ser) c.10247G>C (p.Cys3416Ser) c.10001G>C (p.Cys3334Ser) c.5270G>C (p.Cys1757Ser) c.3020G>C (p.Cys1007Ser) c.3983G>C (p.Cys1328Ser) | |
1 | g.197088392C>T | CA343998572 | ASPM | n.3312G>A c.10025G>A (p.Cys3342Tyr) c.10247G>A (p.Cys3416Tyr) c.10001G>A (p.Cys3334Tyr) c.5270G>A (p.Cys1757Tyr) c.3020G>A (p.Cys1007Tyr) c.3983G>A (p.Cys1328Tyr) | |
1 | g.197088393A>C | CA343998580 | ASPM | n.3311T>G c.10024T>G (p.Cys3342Gly) c.10246T>G (p.Cys3416Gly) c.10000T>G (p.Cys3334Gly) c.5269T>G (p.Cys1757Gly) c.3019T>G (p.Cys1007Gly) c.3982T>G (p.Cys1328Gly) | |
1 | g.197088393A>G | CA343998585 | ASPM | n.3311T>C c.10024T>C (p.Cys3342Arg) c.10246T>C (p.Cys3416Arg) c.10000T>C (p.Cys3334Arg) c.5269T>C (p.Cys1757Arg) c.3019T>C (p.Cys1007Arg) c.3982T>C (p.Cys1328Arg) | |
1 | g.197088393A>T | CA343998582 | ASPM | n.3311T>A c.10024T>A (p.Cys3342Ser) c.10246T>A (p.Cys3416Ser) c.10000T>A (p.Cys3334Ser) c.5269T>A (p.Cys1757Ser) c.3019T>A (p.Cys1007Ser) c.3982T>A (p.Cys1328Ser) | |
1 | g.197088394A>C | CA343998587 | ASPM | n.3310T>G c.10023T>G (p.Asn3341Lys) c.10245T>G (p.Asn3415Lys) c.9999T>G (p.Asn3333Lys) c.5268T>G (p.Asn1756Lys) c.3018T>G (p.Asn1006Lys) c.3981T>G (p.Asn1327Lys) | |
1 | g.197088394A>G | CA422672225 | ASPM | n.3310T>C c.10023T>C (p.Asn3341=) c.10245T>C (p.Asn3415=) c.9999T>C (p.Asn3333=) c.5268T>C (p.Asn1756=) c.3018T>C (p.Asn1006=) c.3981T>C (p.Asn1327=) | gnomAD v4 |
1 | g.197088394A>T | CA343998590 | ASPM | n.3310T>A c.10023T>A (p.Asn3341Lys) c.10245T>A (p.Asn3415Lys) c.9999T>A (p.Asn3333Lys) c.5268T>A (p.Asn1756Lys) c.3018T>A (p.Asn1006Lys) c.3981T>A (p.Asn1327Lys) | |
1 | g.197088395T>A | CA343998591 | ASPM | n.3309A>T c.10022A>T (p.Asn3341Ile) c.10244A>T (p.Asn3415Ile) c.9998A>T (p.Asn3333Ile) c.5267A>T (p.Asn1756Ile) c.3017A>T (p.Asn1006Ile) c.3980A>T (p.Asn1327Ile) | |
1 | g.197088395T>C | CA343998592 | ASPM | n.3309A>G c.10022A>G (p.Asn3341Ser) c.10244A>G (p.Asn3415Ser) c.9998A>G (p.Asn3333Ser) c.5267A>G (p.Asn1756Ser) c.3017A>G (p.Asn1006Ser) c.3980A>G (p.Asn1327Ser) | |
1 | g.197088395T>G | CA343998594 | ASPM | n.3309A>C c.10022A>C (p.Asn3341Thr) c.10244A>C (p.Asn3415Thr) c.9998A>C (p.Asn3333Thr) c.5267A>C (p.Asn1756Thr) c.3017A>C (p.Asn1006Thr) c.3980A>C (p.Asn1327Thr) | |
1 | g.197088396T>A | CA343998596 | ASPM | n.3308A>T c.10021A>T (p.Asn3341Tyr) c.10243A>T (p.Asn3415Tyr) c.9997A>T (p.Asn3333Tyr) c.5266A>T (p.Asn1756Tyr) c.3016A>T (p.Asn1006Tyr) c.3979A>T (p.Asn1327Tyr) | |
1 | g.197088396T>C | CA343998599 | ASPM | n.3308A>G c.10021A>G (p.Asn3341Asp) c.10243A>G (p.Asn3415Asp) c.9997A>G (p.Asn3333Asp) c.5266A>G (p.Asn1756Asp) c.3016A>G (p.Asn1006Asp) c.3979A>G (p.Asn1327Asp) | dbSNP |
1 | g.197088396T>G | CA343998602 | ASPM | n.3308A>C c.10021A>C (p.Asn3341His) c.10243A>C (p.Asn3415His) c.9997A>C (p.Asn3333His) c.5266A>C (p.Asn1756His) c.3016A>C (p.Asn1006His) c.3979A>C (p.Asn1327His) | |
1 | g.197088396T= | CA1217923591 | ASPM | n.3308A= c.10021A= (p.Asn3341=) c.10243A= (p.Asn3415=) c.9997A= (p.Asn3333=) c.5266A= (p.Asn1756=) c.3016A= (p.Asn1006=) c.3979A= (p.Asn1327=) | |
1 | g.197088397T>A | CA343998607 | ASPM | n.3307A>T c.10020A>T (p.Glu3340Asp) c.10242A>T (p.Glu3414Asp) c.9996A>T (p.Glu3332Asp) c.5265A>T (p.Glu1755Asp) c.3015A>T (p.Glu1005Asp) c.3978A>T (p.Glu1326Asp) | |
1 | g.197088397T>C | CA422672226 | ASPM | n.3307A>G c.10020A>G (p.Glu3340=) c.10242A>G (p.Glu3414=) c.9996A>G (p.Glu3332=) c.5265A>G (p.Glu1755=) c.3015A>G (p.Glu1005=) c.3978A>G (p.Glu1326=) | |
1 | g.197088397T>G | CA343998608 | ASPM | n.3307A>C c.10020A>C (p.Glu3340Asp) c.10242A>C (p.Glu3414Asp) c.9996A>C (p.Glu3332Asp) c.5265A>C (p.Glu1755Asp) c.3015A>C (p.Glu1005Asp) c.3978A>C (p.Glu1326Asp) | |
1 | g.197088398T>A | CA343998613 | ASPM | n.3306A>T c.10019A>T (p.Glu3340Val) c.10241A>T (p.Glu3414Val) c.9995A>T (p.Glu3332Val) c.5264A>T (p.Glu1755Val) c.3014A>T (p.Glu1005Val) c.3977A>T (p.Glu1326Val) | |
1 | g.197088398T>C | CA1308806 | ASPM | n.3306A>G c.10019A>G (p.Glu3340Gly) c.10241A>G (p.Glu3414Gly) c.9995A>G (p.Glu3332Gly) c.5264A>G (p.Glu1755Gly) c.3014A>G (p.Glu1005Gly) c.3977A>G (p.Glu1326Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088398T>G | CA343998625 | ASPM | n.3306A>C c.10019A>C (p.Glu3340Ala) c.10241A>C (p.Glu3414Ala) c.9995A>C (p.Glu3332Ala) c.5264A>C (p.Glu1755Ala) c.3014A>C (p.Glu1005Ala) c.3977A>C (p.Glu1326Ala) | |
1 | g.197088398T= | CA1217923593 | ASPM | n.3306A= c.10019A= (p.Glu3340=) c.10241A= (p.Glu3414=) c.9995A= (p.Glu3332=) c.5264A= (p.Glu1755=) c.3014A= (p.Glu1005=) c.3977A= (p.Glu1326=) | |
1 | g.197088399C>A | CA343998631 | ASPM | n.3305G>T c.10018G>T (p.Glu3340Ter) c.10240G>T (p.Glu3414Ter) c.9994G>T (p.Glu3332Ter) c.5263G>T (p.Glu1755Ter) c.3013G>T (p.Glu1005Ter) c.3976G>T (p.Glu1326Ter) | |
1 | g.197088399C>G | CA343998628 | ASPM | n.3305G>C c.10018G>C (p.Glu3340Gln) c.10240G>C (p.Glu3414Gln) c.9994G>C (p.Glu3332Gln) c.5263G>C (p.Glu1755Gln) c.3013G>C (p.Glu1005Gln) c.3976G>C (p.Glu1326Gln) | |
1 | g.197088399C>T | CA343998626 | ASPM | n.3305G>A c.10018G>A (p.Glu3340Lys) c.10240G>A (p.Glu3414Lys) c.9994G>A (p.Glu3332Lys) c.5263G>A (p.Glu1755Lys) c.3013G>A (p.Glu1005Lys) c.3976G>A (p.Glu1326Lys) |