| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197093087G>A | CA344006789 | ASPM | n.2546C>T c.9259C>T (p.Gln3087Ter) c.9481C>T (p.Gln3161Ter) c.4504C>T (p.Gln1502Ter) c.2254C>T (p.Gln752Ter) c.3217C>T (p.Gln1073Ter) | |
| 1 | g.197093087G>C | CA344006788 | ASPM | n.2546C>G c.9259C>G (p.Gln3087Glu) c.9481C>G (p.Gln3161Glu) c.4504C>G (p.Gln1502Glu) c.2254C>G (p.Gln752Glu) c.3217C>G (p.Gln1073Glu) | |
| 1 | g.197093087G= | CA1145293243 | ASPM | n.2546C= c.9259C= (p.Gln3087=) c.9481C= (p.Gln3161=) c.4504C= (p.Gln1502=) c.2254C= (p.Gln752=) c.3217C= (p.Gln1073=) | |
| 1 | g.197093087G>T | CA35863366 | ASPM | n.2546C>A c.9259C>A (p.Gln3087Lys) c.9481C>A (p.Gln3161Lys) c.4504C>A (p.Gln1502Lys) c.2254C>A (p.Gln752Lys) c.3217C>A (p.Gln1073Lys) | dbSNP gnomAD v4 |
| 1 | g.197093088T>A | CA422672833 | ASPM | n.2545A>T c.9258A>T (p.Leu3086=) c.9480A>T (p.Leu3160=) c.4503A>T (p.Leu1501=) c.2253A>T (p.Leu751=) c.3216A>T (p.Leu1072=) | |
| 1 | g.197093088T>C | CA422672837 | ASPM | n.2545A>G c.9258A>G (p.Leu3086=) c.9480A>G (p.Leu3160=) c.4503A>G (p.Leu1501=) c.2253A>G (p.Leu751=) c.3216A>G (p.Leu1072=) | |
| 1 | g.197093088T>G | CA422672835 | ASPM | n.2545A>C c.9258A>C (p.Leu3086=) c.9480A>C (p.Leu3160=) c.4503A>C (p.Leu1501=) c.2253A>C (p.Leu751=) c.3216A>C (p.Leu1072=) | |
| 1 | g.197093089A= | CA1217926680 | ASPM | n.2544T= c.9257T= (p.Leu3086=) c.9479T= (p.Leu3160=) c.4502T= (p.Leu1501=) c.2252T= (p.Leu751=) c.3215T= (p.Leu1072=) | |
| 1 | g.197093089A>C | CA344006790 | ASPM | n.2544T>G c.9257T>G (p.Leu3086Arg) c.9479T>G (p.Leu3160Arg) c.4502T>G (p.Leu1501Arg) c.2252T>G (p.Leu751Arg) c.3215T>G (p.Leu1072Arg) | |
| 1 | g.197093089A>G | CA344006791 | ASPM | n.2544T>C c.9257T>C (p.Leu3086Pro) c.9479T>C (p.Leu3160Pro) c.4502T>C (p.Leu1501Pro) c.2252T>C (p.Leu751Pro) c.3215T>C (p.Leu1072Pro) | dbSNP gnomAD v2 |
| 1 | g.197093089A>T | CA344006792 | ASPM | n.2544T>A c.9257T>A (p.Leu3086Gln) c.9479T>A (p.Leu3160Gln) c.4502T>A (p.Leu1501Gln) c.2252T>A (p.Leu751Gln) c.3215T>A (p.Leu1072Gln) | |
| 1 | g.197093090G>A | CA422672843 | ASPM | n.2543C>T c.9256C>T (p.Leu3086=) c.9478C>T (p.Leu3160=) c.4501C>T (p.Leu1501=) c.2251C>T (p.Leu751=) c.3214C>T (p.Leu1072=) | |
| 1 | g.197093090G>C | CA344006793 | ASPM | n.2543C>G c.9256C>G (p.Leu3086Val) c.9478C>G (p.Leu3160Val) c.4501C>G (p.Leu1501Val) c.2251C>G (p.Leu751Val) c.3214C>G (p.Leu1072Val) | |
| 1 | g.197093090G>T | CA344006794 | ASPM | n.2543C>A c.9256C>A (p.Leu3086Ile) c.9478C>A (p.Leu3160Ile) c.4501C>A (p.Leu1501Ile) c.2251C>A (p.Leu751Ile) c.3214C>A (p.Leu1072Ile) | |
| 1 | g.197093091del | CA2573975228 | ASPM | n.2543del c.9256del (p.Leu3086TyrfsTer9) c.9478del (p.Leu3160TyrfsTer9) c.4501del (p.Leu1501TyrfsTer9) c.2251del (p.Leu751TyrfsTer9) c.3214del (p.Leu1072TyrfsTer9) | |
| 1 | g.197093091G>A | CA422672847 | ASPM | n.2542C>T c.9255C>T (p.Ile3085=) c.9477C>T (p.Ile3159=) c.4500C>T (p.Ile1500=) c.2250C>T (p.Ile750=) c.3213C>T (p.Ile1071=) | dbSNP gnomAD v2 |
| 1 | g.197093091G>C | CA344006795 | ASPM | n.2542C>G c.9255C>G (p.Ile3085Met) c.9477C>G (p.Ile3159Met) c.4500C>G (p.Ile1500Met) c.2250C>G (p.Ile750Met) c.3213C>G (p.Ile1071Met) | |
| 1 | g.197093091G= | CA1217926681 | ASPM | n.2542C= c.9255C= (p.Ile3085=) c.9477C= (p.Ile3159=) c.4500C= (p.Ile1500=) c.2250C= (p.Ile750=) c.3213C= (p.Ile1071=) | |
| 1 | g.197093091G>T | CA422672850 | ASPM | n.2542C>A c.9255C>A (p.Ile3085=) c.9477C>A (p.Ile3159=) c.4500C>A (p.Ile1500=) c.2250C>A (p.Ile750=) c.3213C>A (p.Ile1071=) | |
| 1 | g.197093092A= | CA1141599101 | ASPM | n.2541T= c.9254T= (p.Ile3085=) c.9476T= (p.Ile3159=) c.4499T= (p.Ile1500=) c.2249T= (p.Ile750=) c.3212T= (p.Ile1071=) | |
| 1 | g.197093092A>C | CA344006796 | ASPM | n.2541T>G c.9254T>G (p.Ile3085Ser) c.9476T>G (p.Ile3159Ser) c.4499T>G (p.Ile1500Ser) c.2249T>G (p.Ile750Ser) c.3212T>G (p.Ile1071Ser) | |
| 1 | g.197093092A>G | CA171273 | ASPM | n.2541T>C c.9254T>C (p.Ile3085Thr) c.9476T>C (p.Ile3159Thr) c.4499T>C (p.Ile1500Thr) c.2249T>C (p.Ile750Thr) c.3212T>C (p.Ile1071Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093092A>T | CA344006797 | ASPM | n.2541T>A c.9254T>A (p.Ile3085Asn) c.9476T>A (p.Ile3159Asn) c.4499T>A (p.Ile1500Asn) c.2249T>A (p.Ile750Asn) c.3212T>A (p.Ile1071Asn) | |
| 1 | g.197093093T>A | CA344006798 | ASPM | n.2540A>T c.9253A>T (p.Ile3085Phe) c.9475A>T (p.Ile3159Phe) c.4498A>T (p.Ile1500Phe) c.2248A>T (p.Ile750Phe) c.3211A>T (p.Ile1071Phe) | |
| 1 | g.197093093T>C | CA344006799 | ASPM | n.2540A>G c.9253A>G (p.Ile3085Val) c.9475A>G (p.Ile3159Val) c.4498A>G (p.Ile1500Val) c.2248A>G (p.Ile750Val) c.3211A>G (p.Ile1071Val) | gnomAD v4 |
| 1 | g.197093093T>G | CA344006800 | ASPM | n.2540A>C c.9253A>C (p.Ile3085Leu) c.9475A>C (p.Ile3159Leu) c.4498A>C (p.Ile1500Leu) c.2248A>C (p.Ile750Leu) c.3211A>C (p.Ile1071Leu) | |
| 1 | g.197093094A>C | CA422672858 | ASPM | n.2539T>G c.9252T>G (p.Val3084=) c.9474T>G (p.Val3158=) c.4497T>G (p.Val1499=) c.2247T>G (p.Val749=) c.3210T>G (p.Val1070=) | |
| 1 | g.197093094A>G | CA422672860 | ASPM | n.2539T>C c.9252T>C (p.Val3084=) c.9474T>C (p.Val3158=) c.4497T>C (p.Val1499=) c.2247T>C (p.Val749=) c.3210T>C (p.Val1070=) | |
| 1 | g.197093094A>T | CA422672863 | ASPM | n.2539T>A c.9252T>A (p.Val3084=) c.9474T>A (p.Val3158=) c.4497T>A (p.Val1499=) c.2247T>A (p.Val749=) c.3210T>A (p.Val1070=) | ClinVar |
| 1 | g.197093095A>C | CA344006801 | ASPM | n.2538T>G c.9251T>G (p.Val3084Gly) c.9473T>G (p.Val3158Gly) c.4496T>G (p.Val1499Gly) c.2246T>G (p.Val749Gly) c.3209T>G (p.Val1070Gly) | |
| 1 | g.197093095A>G | CA344006802 | ASPM | n.2538T>C c.9251T>C (p.Val3084Ala) c.9473T>C (p.Val3158Ala) c.4496T>C (p.Val1499Ala) c.2246T>C (p.Val749Ala) c.3209T>C (p.Val1070Ala) | |
| 1 | g.197093095A>T | CA344006803 | ASPM | n.2538T>A c.9251T>A (p.Val3084Asp) c.9473T>A (p.Val3158Asp) c.4496T>A (p.Val1499Asp) c.2246T>A (p.Val749Asp) c.3209T>A (p.Val1070Asp) | |
| 1 | g.197093096C>A | CA344006804 | ASPM | n.2537G>T c.9250G>T (p.Val3084Phe) c.9472G>T (p.Val3158Phe) c.4495G>T (p.Val1499Phe) c.2245G>T (p.Val749Phe) c.3208G>T (p.Val1070Phe) | |
| 1 | g.197093096C= | CA1141659807 | ASPM | n.2537G= c.9250G= (p.Val3084=) c.9472G= (p.Val3158=) c.4495G= (p.Val1499=) c.2245G= (p.Val749=) c.3208G= (p.Val1070=) | |
| 1 | g.197093096C>G | CA344006805 | ASPM | n.2537G>C c.9250G>C (p.Val3084Leu) c.9472G>C (p.Val3158Leu) c.4495G>C (p.Val1499Leu) c.2245G>C (p.Val749Leu) c.3208G>C (p.Val1070Leu) | |
| 1 | g.197093096C>T | CA1309005 | ASPM | n.2537G>A c.9250G>A (p.Val3084Ile) c.9472G>A (p.Val3158Ile) c.4495G>A (p.Val1499Ile) c.2245G>A (p.Val749Ile) c.3208G>A (p.Val1070Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093097T>A | CA422672871 | ASPM | n.2536A>T c.9249A>T (p.Thr3083=) c.9471A>T (p.Thr3157=) c.4494A>T (p.Thr1498=) c.2244A>T (p.Thr748=) c.3207A>T (p.Thr1069=) | |
| 1 | g.197093097T>C | CA422672873 | ASPM | n.2536A>G c.9249A>G (p.Thr3083=) c.9471A>G (p.Thr3157=) c.4494A>G (p.Thr1498=) c.2244A>G (p.Thr748=) c.3207A>G (p.Thr1069=) | |
| 1 | g.197093097T>G | CA422672874 | ASPM | n.2536A>C c.9249A>C (p.Thr3083=) c.9471A>C (p.Thr3157=) c.4494A>C (p.Thr1498=) c.2244A>C (p.Thr748=) c.3207A>C (p.Thr1069=) | |
| 1 | g.197093098G>A | CA344006806 | ASPM | n.2535C>T c.9248C>T (p.Thr3083Ile) c.9470C>T (p.Thr3157Ile) c.4493C>T (p.Thr1498Ile) c.2243C>T (p.Thr748Ile) c.3206C>T (p.Thr1069Ile) | gnomAD v4 |
| 1 | g.197093098G>C | CA344006807 | ASPM | n.2535C>G c.9248C>G (p.Thr3083Arg) c.9470C>G (p.Thr3157Arg) c.4493C>G (p.Thr1498Arg) c.2243C>G (p.Thr748Arg) c.3206C>G (p.Thr1069Arg) | |
| 1 | g.197093098G>T | CA344006808 | ASPM | n.2535C>A c.9248C>A (p.Thr3083Lys) c.9470C>A (p.Thr3157Lys) c.4493C>A (p.Thr1498Lys) c.2243C>A (p.Thr748Lys) c.3206C>A (p.Thr1069Lys) | |
| 1 | g.197093099T>A | CA344006814 | ASPM | n.2534A>T c.9247A>T (p.Thr3083Ser) c.9469A>T (p.Thr3157Ser) c.4492A>T (p.Thr1498Ser) c.2242A>T (p.Thr748Ser) c.3205A>T (p.Thr1069Ser) | |
| 1 | g.197093099T>C | CA344006816 | ASPM | n.2534A>G c.9247A>G (p.Thr3083Ala) c.9469A>G (p.Thr3157Ala) c.4492A>G (p.Thr1498Ala) c.2242A>G (p.Thr748Ala) c.3205A>G (p.Thr1069Ala) | dbSNP |
| 1 | g.197093099T>G | CA344006812 | ASPM | n.2534A>C c.9247A>C (p.Thr3083Pro) c.9469A>C (p.Thr3157Pro) c.4492A>C (p.Thr1498Pro) c.2242A>C (p.Thr748Pro) c.3205A>C (p.Thr1069Pro) | |
| 1 | g.197093099T= | CA1217926682 | ASPM | n.2534A= c.9247A= (p.Thr3083=) c.9469A= (p.Thr3157=) c.4492A= (p.Thr1498=) c.2242A= (p.Thr748=) c.3205A= (p.Thr1069=) | |
| 1 | g.197093100A= | CA1143457821 | ASPM | n.2533T= c.9246T= (p.Ser3082=) c.9468T= (p.Ser3156=) c.4491T= (p.Ser1497=) c.2241T= (p.Ser747=) c.3204T= (p.Ser1068=) | |
| 1 | g.197093100A>C | CA422672883 | ASPM | n.2533T>G c.9246T>G (p.Ser3082=) c.9468T>G (p.Ser3156=) c.4491T>G (p.Ser1497=) c.2241T>G (p.Ser747=) c.3204T>G (p.Ser1068=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093100A>G | CA1309006 | ASPM | n.2533T>C c.9246T>C (p.Ser3082=) c.9468T>C (p.Ser3156=) c.4491T>C (p.Ser1497=) c.2241T>C (p.Ser747=) c.3204T>C (p.Ser1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093100A>T | CA422672886 | ASPM | n.2533T>A c.9246T>A (p.Ser3082=) c.9468T>A (p.Ser3156=) c.4491T>A (p.Ser1497=) c.2241T>A (p.Ser747=) c.3204T>A (p.Ser1068=) |