| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |