| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197090847T>C | CA2649660856 | ASPM | n.2923+3A>G c.9636+3A>G (n.9636+3A>G) c.9858+3A>G (n.9858+3A>G) c.9612+3A>G (n.9612+3A>G) c.4881+3A>G (n.4881+3A>G) c.2631+3A>G (n.2631+3A>G) c.3594+3A>G (n.3594+3A>G) | gnomAD v4 |
| 1 | g.197090847T>G | CA1010898485 | ASPM | n.2923+3A>C c.9636+3A>C (n.9636+3A>C) c.9858+3A>C (n.9858+3A>C) c.9612+3A>C (n.9612+3A>C) c.4881+3A>C (n.4881+3A>C) c.2631+3A>C (n.2631+3A>C) c.3594+3A>C (n.3594+3A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090847T= | CA1217925648 | ASPM | n.2923+3A= c.9636+3A= (n.9636+3A=) c.9858+3A= (n.9858+3A=) c.9612+3A= (n.9612+3A=) c.4881+3A= (n.4881+3A=) c.2631+3A= (n.2631+3A=) c.3594+3A= (n.3594+3A=) | |
| 1 | g.197090848A>C | CA344002224 | ASPM | n.2923+2T>G c.9636+2T>G (n.9636+2T>G) c.9858+2T>G (n.9858+2T>G) c.9612+2T>G (n.9612+2T>G) c.4881+2T>G (n.4881+2T>G) c.2631+2T>G (n.2631+2T>G) c.3594+2T>G (n.3594+2T>G) | |
| 1 | g.197090848A>G | CA344002227 | ASPM | n.2923+2T>C c.9636+2T>C (n.9636+2T>C) c.9858+2T>C (n.9858+2T>C) c.9612+2T>C (n.9612+2T>C) c.4881+2T>C (n.4881+2T>C) c.2631+2T>C (n.2631+2T>C) c.3594+2T>C (n.3594+2T>C) | |
| 1 | g.197090848A>T | CA344002229 | ASPM | n.2923+2T>A c.9636+2T>A (n.9636+2T>A) c.9858+2T>A (n.9858+2T>A) c.9612+2T>A (n.9612+2T>A) c.4881+2T>A (n.4881+2T>A) c.2631+2T>A (n.2631+2T>A) c.3594+2T>A (n.3594+2T>A) | |
| 1 | g.197090849C>A | CA344002232 | ASPM | n.2923+1G>T c.9636+1G>T (n.9636+1G>T) c.9858+1G>T (n.9858+1G>T) c.9612+1G>T (n.9612+1G>T) c.4881+1G>T (n.4881+1G>T) c.2631+1G>T (n.2631+1G>T) c.3594+1G>T (n.3594+1G>T) | gnomAD v4 |
| 1 | g.197090849C>G | CA344002236 | ASPM | n.2923+1G>C c.9636+1G>C (n.9636+1G>C) c.9858+1G>C (n.9858+1G>C) c.9612+1G>C (n.9612+1G>C) c.4881+1G>C (n.4881+1G>C) c.2631+1G>C (n.2631+1G>C) c.3594+1G>C (n.3594+1G>C) | |
| 1 | g.197090849C>T | CA344002234 | ASPM | n.2923+1G>A c.9636+1G>A (n.9636+1G>A) c.9858+1G>A (n.9858+1G>A) c.9612+1G>A (n.9612+1G>A) c.4881+1G>A (n.4881+1G>A) c.2631+1G>A (n.2631+1G>A) c.3594+1G>A (n.3594+1G>A) | gnomAD v4 |
| 1 | g.197090850C>A | CA344002238 | ASPM | n.2923G>T c.9636G>T (p.Gln3212His) c.9858G>T (p.Gln3286His) c.9612G>T (p.Gln3204His) c.4881G>T (p.Gln1627His) c.2631G>T (p.Gln877His) c.3594G>T (p.Gln1198His) | gnomAD v4 |
| 1 | g.197090850C= | CA1144106692 | ASPM | n.2923G= c.9636G= (p.Gln3212=) c.9858G= (p.Gln3286=) c.9612G= (p.Gln3204=) c.4881G= (p.Gln1627=) c.2631G= (p.Gln877=) c.3594G= (p.Gln1198=) | |
| 1 | g.197090850C>G | CA344002239 | ASPM | n.2923G>C c.9636G>C (p.Gln3212His) c.9858G>C (p.Gln3286His) c.9612G>C (p.Gln3204His) c.4881G>C (p.Gln1627His) c.2631G>C (p.Gln877His) c.3594G>C (p.Gln1198His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090850C>T | CA35862165 | ASPM | n.2923G>A c.9636G>A (p.Gln3212=) c.9858G>A (p.Gln3286=) c.9612G>A (p.Gln3204=) c.4881G>A (p.Gln1627=) c.2631G>A (p.Gln877=) c.3594G>A (p.Gln1198=) | dbSNP gnomAD v4 |
| 1 | g.197090851T>A | CA344002242 | ASPM | n.2922A>T c.9635A>T (p.Gln3212Leu) c.9857A>T (p.Gln3286Leu) c.9611A>T (p.Gln3204Leu) c.4880A>T (p.Gln1627Leu) c.2630A>T (p.Gln877Leu) c.3593A>T (p.Gln1198Leu) | |
| 1 | g.197090851T>C | CA344002245 | ASPM | n.2922A>G c.9635A>G (p.Gln3212Arg) c.9857A>G (p.Gln3286Arg) c.9611A>G (p.Gln3204Arg) c.4880A>G (p.Gln1627Arg) c.2630A>G (p.Gln877Arg) c.3593A>G (p.Gln1198Arg) | |
| 1 | g.197090851T>G | CA344002246 | ASPM | n.2922A>C c.9635A>C (p.Gln3212Pro) c.9857A>C (p.Gln3286Pro) c.9611A>C (p.Gln3204Pro) c.4880A>C (p.Gln1627Pro) c.2630A>C (p.Gln877Pro) c.3593A>C (p.Gln1198Pro) | |
| 1 | g.197090852G>A | CA344002250 | ASPM | n.2921C>T c.9634C>T (p.Gln3212Ter) c.9856C>T (p.Gln3286Ter) c.9610C>T (p.Gln3204Ter) c.4879C>T (p.Gln1627Ter) c.2629C>T (p.Gln877Ter) c.3592C>T (p.Gln1198Ter) | |
| 1 | g.197090852G>C | CA344002252 | ASPM | n.2921C>G c.9634C>G (p.Gln3212Glu) c.9856C>G (p.Gln3286Glu) c.9610C>G (p.Gln3204Glu) c.4879C>G (p.Gln1627Glu) c.2629C>G (p.Gln877Glu) c.3592C>G (p.Gln1198Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090852G= | CA1217925656 | ASPM | n.2921C= c.9634C= (p.Gln3212=) c.9856C= (p.Gln3286=) c.9610C= (p.Gln3204=) c.4879C= (p.Gln1627=) c.2629C= (p.Gln877=) c.3592C= (p.Gln1198=) | |
| 1 | g.197090852G>T | CA344002255 | ASPM | n.2921C>A c.9634C>A (p.Gln3212Lys) c.9856C>A (p.Gln3286Lys) c.9610C>A (p.Gln3204Lys) c.4879C>A (p.Gln1627Lys) c.2629C>A (p.Gln877Lys) c.3592C>A (p.Gln1198Lys) | |
| 1 | g.197090853A>C | CA344002257 | ASPM | n.2920T>G c.9633T>G (p.Ile3211Met) c.9855T>G (p.Ile3285Met) c.9609T>G (p.Ile3203Met) c.4878T>G (p.Ile1626Met) c.2628T>G (p.Ile876Met) c.3591T>G (p.Ile1197Met) | |
| 1 | g.197090853A>G | CA422672394 | ASPM | n.2920T>C c.9633T>C (p.Ile3211=) c.9855T>C (p.Ile3285=) c.9609T>C (p.Ile3203=) c.4878T>C (p.Ile1626=) c.2628T>C (p.Ile876=) c.3591T>C (p.Ile1197=) | COSMIC |
| 1 | g.197090853A>T | CA422672395 | ASPM | n.2920T>A c.9633T>A (p.Ile3211=) c.9855T>A (p.Ile3285=) c.9609T>A (p.Ile3203=) c.4878T>A (p.Ile1626=) c.2628T>A (p.Ile876=) c.3591T>A (p.Ile1197=) | |
| 1 | g.197090854A= | CA1217925658 | ASPM | n.2919T= c.9632T= (p.Ile3211=) c.9854T= (p.Ile3285=) c.9608T= (p.Ile3203=) c.4877T= (p.Ile1626=) c.2627T= (p.Ile876=) c.3590T= (p.Ile1197=) | |
| 1 | g.197090854A>C | CA344002262 | ASPM | n.2919T>G c.9632T>G (p.Ile3211Ser) c.9854T>G (p.Ile3285Ser) c.9608T>G (p.Ile3203Ser) c.4877T>G (p.Ile1626Ser) c.2627T>G (p.Ile876Ser) c.3590T>G (p.Ile1197Ser) | |
| 1 | g.197090854A>G | CA344002264 | ASPM | n.2919T>C c.9632T>C (p.Ile3211Thr) c.9854T>C (p.Ile3285Thr) c.9608T>C (p.Ile3203Thr) c.4877T>C (p.Ile1626Thr) c.2627T>C (p.Ile876Thr) c.3590T>C (p.Ile1197Thr) | gnomAD v4 |
| 1 | g.197090854A>T | CA344002260 | ASPM | n.2919T>A c.9632T>A (p.Ile3211Asn) c.9854T>A (p.Ile3285Asn) c.9608T>A (p.Ile3203Asn) c.4877T>A (p.Ile1626Asn) c.2627T>A (p.Ile876Asn) c.3590T>A (p.Ile1197Asn) | dbSNP gnomAD v4 |
| 1 | g.197090855T>A | CA344002268 | ASPM | n.2918A>T c.9631A>T (p.Ile3211Phe) c.9853A>T (p.Ile3285Phe) c.9607A>T (p.Ile3203Phe) c.4876A>T (p.Ile1626Phe) c.2626A>T (p.Ile876Phe) c.3589A>T (p.Ile1197Phe) | |
| 1 | g.197090855T>C | CA344002270 | ASPM | n.2918A>G c.9631A>G (p.Ile3211Val) c.9853A>G (p.Ile3285Val) c.9607A>G (p.Ile3203Val) c.4876A>G (p.Ile1626Val) c.2626A>G (p.Ile876Val) c.3589A>G (p.Ile1197Val) | gnomAD v4 |
| 1 | g.197090855T>G | CA344002271 | ASPM | n.2918A>C c.9631A>C (p.Ile3211Leu) c.9853A>C (p.Ile3285Leu) c.9607A>C (p.Ile3203Leu) c.4876A>C (p.Ile1626Leu) c.2626A>C (p.Ile876Leu) c.3589A>C (p.Ile1197Leu) | |
| 1 | g.197090856T>A | CA344002272 | ASPM | n.2917A>T c.9630A>T (p.Lys3210Asn) c.9852A>T (p.Lys3284Asn) c.9606A>T (p.Lys3202Asn) c.4875A>T (p.Lys1625Asn) c.2625A>T (p.Lys875Asn) c.3588A>T (p.Lys1196Asn) | |
| 1 | g.197090856T>C | CA422672396 | ASPM | n.2917A>G c.9630A>G (p.Lys3210=) c.9852A>G (p.Lys3284=) c.9606A>G (p.Lys3202=) c.4875A>G (p.Lys1625=) c.2625A>G (p.Lys875=) c.3588A>G (p.Lys1196=) | dbSNP |
| 1 | g.197090856T>G | CA344002274 | ASPM | n.2917A>C c.9630A>C (p.Lys3210Asn) c.9852A>C (p.Lys3284Asn) c.9606A>C (p.Lys3202Asn) c.4875A>C (p.Lys1625Asn) c.2625A>C (p.Lys875Asn) c.3588A>C (p.Lys1196Asn) | |
| 1 | g.197090856T= | CA1217925661 | ASPM | n.2917A= c.9630A= (p.Lys3210=) c.9852A= (p.Lys3284=) c.9606A= (p.Lys3202=) c.4875A= (p.Lys1625=) c.2625A= (p.Lys875=) c.3588A= (p.Lys1196=) | |
| 1 | g.197090857T>A | CA344002276 | ASPM | n.2916A>T c.9629A>T (p.Lys3210Ile) c.9851A>T (p.Lys3284Ile) c.9605A>T (p.Lys3202Ile) c.4874A>T (p.Lys1625Ile) c.2624A>T (p.Lys875Ile) c.3587A>T (p.Lys1196Ile) | |
| 1 | g.197090857T>C | CA344002280 | ASPM | n.2916A>G c.9629A>G (p.Lys3210Arg) c.9851A>G (p.Lys3284Arg) c.9605A>G (p.Lys3202Arg) c.4874A>G (p.Lys1625Arg) c.2624A>G (p.Lys875Arg) c.3587A>G (p.Lys1196Arg) | |
| 1 | g.197090857T>G | CA344002283 | ASPM | n.2916A>C c.9629A>C (p.Lys3210Thr) c.9851A>C (p.Lys3284Thr) c.9605A>C (p.Lys3202Thr) c.4874A>C (p.Lys1625Thr) c.2624A>C (p.Lys875Thr) c.3587A>C (p.Lys1196Thr) | |
| 1 | g.197090858T>A | CA344002285 | ASPM | n.2915A>T c.9628A>T (p.Lys3210Ter) c.9850A>T (p.Lys3284Ter) c.9604A>T (p.Lys3202Ter) c.4873A>T (p.Lys1625Ter) c.2623A>T (p.Lys875Ter) c.3586A>T (p.Lys1196Ter) | |
| 1 | g.197090858T>C | CA344002287 | ASPM | n.2915A>G c.9628A>G (p.Lys3210Glu) c.9850A>G (p.Lys3284Glu) c.9604A>G (p.Lys3202Glu) c.4873A>G (p.Lys1625Glu) c.2623A>G (p.Lys875Glu) c.3586A>G (p.Lys1196Glu) | |
| 1 | g.197090858T>G | CA344002291 | ASPM | n.2915A>C c.9628A>C (p.Lys3210Gln) c.9850A>C (p.Lys3284Gln) c.9604A>C (p.Lys3202Gln) c.4873A>C (p.Lys1625Gln) c.2623A>C (p.Lys875Gln) c.3586A>C (p.Lys1196Gln) | |
| 1 | g.197090859A>C | CA344002294 | ASPM | n.2914T>G c.9627T>G (p.Ile3209Met) c.9849T>G (p.Ile3283Met) c.9603T>G (p.Ile3201Met) c.4872T>G (p.Ile1624Met) c.2622T>G (p.Ile874Met) c.3585T>G (p.Ile1195Met) | |
| 1 | g.197090859A>G | CA422672397 | ASPM | n.2914T>C c.9627T>C (p.Ile3209=) c.9849T>C (p.Ile3283=) c.9603T>C (p.Ile3201=) c.4872T>C (p.Ile1624=) c.2622T>C (p.Ile874=) c.3585T>C (p.Ile1195=) | |
| 1 | g.197090859A>T | CA422672398 | ASPM | n.2914T>A c.9627T>A (p.Ile3209=) c.9849T>A (p.Ile3283=) c.9603T>A (p.Ile3201=) c.4872T>A (p.Ile1624=) c.2622T>A (p.Ile874=) c.3585T>A (p.Ile1195=) | |
| 1 | g.197090860A= | CA1217925665 | ASPM | n.2913T= c.9626T= (p.Ile3209=) c.9848T= (p.Ile3283=) c.9602T= (p.Ile3201=) c.4871T= (p.Ile1624=) c.2621T= (p.Ile874=) c.3584T= (p.Ile1195=) | |
| 1 | g.197090860A>C | CA344002297 | ASPM | n.2913T>G c.9626T>G (p.Ile3209Ser) c.9848T>G (p.Ile3283Ser) c.9602T>G (p.Ile3201Ser) c.4871T>G (p.Ile1624Ser) c.2621T>G (p.Ile874Ser) c.3584T>G (p.Ile1195Ser) | |
| 1 | g.197090860A>G | CA16603499 | ASPM | n.2913T>C c.9626T>C (p.Ile3209Thr) c.9848T>C (p.Ile3283Thr) c.9602T>C (p.Ile3201Thr) c.4871T>C (p.Ile1624Thr) c.2621T>C (p.Ile874Thr) c.3584T>C (p.Ile1195Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090860A>T | CA344002296 | ASPM | n.2913T>A c.9626T>A (p.Ile3209Asn) c.9848T>A (p.Ile3283Asn) c.9602T>A (p.Ile3201Asn) c.4871T>A (p.Ile1624Asn) c.2621T>A (p.Ile874Asn) c.3584T>A (p.Ile1195Asn) | gnomAD v4 |
| 1 | g.197090861T>A | CA344002298 | ASPM | n.2912A>T c.9625A>T (p.Ile3209Phe) c.9847A>T (p.Ile3283Phe) c.9601A>T (p.Ile3201Phe) c.4870A>T (p.Ile1624Phe) c.2620A>T (p.Ile874Phe) c.3583A>T (p.Ile1195Phe) | |
| 1 | g.197090861T>C | CA344002300 | ASPM | n.2912A>G c.9625A>G (p.Ile3209Val) c.9847A>G (p.Ile3283Val) c.9601A>G (p.Ile3201Val) c.4870A>G (p.Ile1624Val) c.2620A>G (p.Ile874Val) c.3583A>G (p.Ile1195Val) | gnomAD v4 |
| 1 | g.197090861T>G | CA344002301 | ASPM | n.2912A>C c.9625A>C (p.Ile3209Leu) c.9847A>C (p.Ile3283Leu) c.9601A>C (p.Ile3201Leu) c.4870A>C (p.Ile1624Leu) c.2620A>C (p.Ile874Leu) c.3583A>C (p.Ile1195Leu) |