UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.197090862G>A | CA422672399 | ASPM | n.2911C>T c.9624C>T (p.Ile3208=) c.9846C>T (p.Ile3282=) c.9600C>T (p.Ile3200=) c.4869C>T (p.Ile1623=) c.2619C>T (p.Ile873=) c.3582C>T (p.Ile1194=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090862G>C | CA344002304 | ASPM | n.2911C>G c.9624C>G (p.Ile3208Met) c.9846C>G (p.Ile3282Met) c.9600C>G (p.Ile3200Met) c.4869C>G (p.Ile1623Met) c.2619C>G (p.Ile873Met) c.3582C>G (p.Ile1194Met) | |
| 1 | g.197090862G= | CA1217925669 | ASPM | n.2911C= c.9624C= (p.Ile3208=) c.9846C= (p.Ile3282=) c.9600C= (p.Ile3200=) c.4869C= (p.Ile1623=) c.2619C= (p.Ile873=) c.3582C= (p.Ile1194=) | |
| 1 | g.197090862G>T | CA1308913 | ASPM | n.2911C>A c.9624C>A (p.Ile3208=) c.9846C>A (p.Ile3282=) c.9600C>A (p.Ile3200=) c.4869C>A (p.Ile1623=) c.2619C>A (p.Ile873=) c.3582C>A (p.Ile1194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090863A>C | CA344002314 | ASPM | n.2910T>G c.9623T>G (p.Ile3208Ser) c.9845T>G (p.Ile3282Ser) c.9599T>G (p.Ile3200Ser) c.4868T>G (p.Ile1623Ser) c.2618T>G (p.Ile873Ser) c.3581T>G (p.Ile1194Ser) | |
| 1 | g.197090863A>G | CA344002313 | ASPM | n.2910T>C c.9623T>C (p.Ile3208Thr) c.9845T>C (p.Ile3282Thr) c.9599T>C (p.Ile3200Thr) c.4868T>C (p.Ile1623Thr) c.2618T>C (p.Ile873Thr) c.3581T>C (p.Ile1194Thr) | |
| 1 | g.197090863A>T | CA344002311 | ASPM | n.2910T>A c.9623T>A (p.Ile3208Asn) c.9845T>A (p.Ile3282Asn) c.9599T>A (p.Ile3200Asn) c.4868T>A (p.Ile1623Asn) c.2618T>A (p.Ile873Asn) c.3581T>A (p.Ile1194Asn) | |
| 1 | g.197090864T>A | CA344002315 | ASPM | n.2909A>T c.9622A>T (p.Ile3208Phe) c.9844A>T (p.Ile3282Phe) c.9598A>T (p.Ile3200Phe) c.4867A>T (p.Ile1623Phe) c.2617A>T (p.Ile873Phe) c.3580A>T (p.Ile1194Phe) | |
| 1 | g.197090864T>C | CA344002317 | ASPM | n.2909A>G c.9622A>G (p.Ile3208Val) c.9844A>G (p.Ile3282Val) c.9598A>G (p.Ile3200Val) c.4867A>G (p.Ile1623Val) c.2617A>G (p.Ile873Val) c.3580A>G (p.Ile1194Val) | gnomAD v4 |
| 1 | g.197090864T>G | CA344002319 | ASPM | n.2909A>C c.9622A>C (p.Ile3208Leu) c.9844A>C (p.Ile3282Leu) c.9598A>C (p.Ile3200Leu) c.4867A>C (p.Ile1623Leu) c.2617A>C (p.Ile873Leu) c.3580A>C (p.Ile1194Leu) | |
| 1 | g.197090865T>A | CA422672401 | ASPM | n.2908A>T c.9621A>T (p.Gly3207=) c.9843A>T (p.Gly3281=) c.9597A>T (p.Gly3199=) c.4866A>T (p.Gly1622=) c.2616A>T (p.Gly872=) c.3579A>T (p.Gly1193=) | |
| 1 | g.197090865T>C | CA422672402 | ASPM | n.2908A>G c.9621A>G (p.Gly3207=) c.9843A>G (p.Gly3281=) c.9597A>G (p.Gly3199=) c.4866A>G (p.Gly1622=) c.2616A>G (p.Gly872=) c.3579A>G (p.Gly1193=) | dbSNP |
| 1 | g.197090865T>G | CA422672403 | ASPM | n.2908A>C c.9621A>C (p.Gly3207=) c.9843A>C (p.Gly3281=) c.9597A>C (p.Gly3199=) c.4866A>C (p.Gly1622=) c.2616A>C (p.Gly872=) c.3579A>C (p.Gly1193=) | |
| 1 | g.197090865T= | CA1217925672 | ASPM | n.2908A= c.9621A= (p.Gly3207=) c.9843A= (p.Gly3281=) c.9597A= (p.Gly3199=) c.4866A= (p.Gly1622=) c.2616A= (p.Gly872=) c.3579A= (p.Gly1193=) | |
| 1 | g.197090866C>A | CA344002321 | ASPM | n.2907G>T c.9620G>T (p.Gly3207Val) c.9842G>T (p.Gly3281Val) c.9596G>T (p.Gly3199Val) c.4865G>T (p.Gly1622Val) c.2615G>T (p.Gly872Val) c.3578G>T (p.Gly1193Val) | |
| 1 | g.197090866C= | CA1217925676 | ASPM | n.2907G= c.9620G= (p.Gly3207=) c.9842G= (p.Gly3281=) c.9596G= (p.Gly3199=) c.4865G= (p.Gly1622=) c.2615G= (p.Gly872=) c.3578G= (p.Gly1193=) | |
| 1 | g.197090866C>G | CA344002323 | ASPM | n.2907G>C c.9620G>C (p.Gly3207Ala) c.9842G>C (p.Gly3281Ala) c.9596G>C (p.Gly3199Ala) c.4865G>C (p.Gly1622Ala) c.2615G>C (p.Gly872Ala) c.3578G>C (p.Gly1193Ala) | |
| 1 | g.197090866C>T | CA344002324 | ASPM | n.2907G>A c.9620G>A (p.Gly3207Glu) c.9842G>A (p.Gly3281Glu) c.9596G>A (p.Gly3199Glu) c.4865G>A (p.Gly1622Glu) c.2615G>A (p.Gly872Glu) c.3578G>A (p.Gly1193Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090867C>A | CA344002328 | ASPM | n.2906G>T c.9619G>T (p.Gly3207Ter) c.9841G>T (p.Gly3281Ter) c.9595G>T (p.Gly3199Ter) c.4864G>T (p.Gly1622Ter) c.2614G>T (p.Gly872Ter) c.3577G>T (p.Gly1193Ter) | |
| 1 | g.197090867C>G | CA344002340 | ASPM | n.2906G>C c.9619G>C (p.Gly3207Arg) c.9841G>C (p.Gly3281Arg) c.9595G>C (p.Gly3199Arg) c.4864G>C (p.Gly1622Arg) c.2614G>C (p.Gly872Arg) c.3577G>C (p.Gly1193Arg) | |
| 1 | g.197090867C>T | CA344002337 | ASPM | n.2906G>A c.9619G>A (p.Gly3207Arg) c.9841G>A (p.Gly3281Arg) c.9595G>A (p.Gly3199Arg) c.4864G>A (p.Gly1622Arg) c.2614G>A (p.Gly872Arg) c.3577G>A (p.Gly1193Arg) | |
| 1 | g.197090868A>C | CA344002343 | ASPM | n.2905T>G c.9618T>G (p.Ser3206Arg) c.9840T>G (p.Ser3280Arg) c.9594T>G (p.Ser3198Arg) c.4863T>G (p.Ser1621Arg) c.2613T>G (p.Ser871Arg) c.3576T>G (p.Ser1192Arg) | |
| 1 | g.197090868A>G | CA422672404 | ASPM | n.2905T>C c.9618T>C (p.Ser3206=) c.9840T>C (p.Ser3280=) c.9594T>C (p.Ser3198=) c.4863T>C (p.Ser1621=) c.2613T>C (p.Ser871=) c.3576T>C (p.Ser1192=) | |
| 1 | g.197090868A>T | CA344002345 | ASPM | n.2905T>A c.9618T>A (p.Ser3206Arg) c.9840T>A (p.Ser3280Arg) c.9594T>A (p.Ser3198Arg) c.4863T>A (p.Ser1621Arg) c.2613T>A (p.Ser871Arg) c.3576T>A (p.Ser1192Arg) | |
| 1 | g.197090869C>A | CA344002346 | ASPM | n.2904G>T c.9617G>T (p.Ser3206Ile) c.9839G>T (p.Ser3280Ile) c.9593G>T (p.Ser3198Ile) c.4862G>T (p.Ser1621Ile) c.2612G>T (p.Ser871Ile) c.3575G>T (p.Ser1192Ile) | |
| 1 | g.197090869C= | CA1217925678 | ASPM | n.2904G= c.9617G= (p.Ser3206=) c.9839G= (p.Ser3280=) c.9593G= (p.Ser3198=) c.4862G= (p.Ser1621=) c.2612G= (p.Ser871=) c.3575G= (p.Ser1192=) | |
| 1 | g.197090869C>G | CA1308914 | ASPM | n.2904G>C c.9617G>C (p.Ser3206Thr) c.9839G>C (p.Ser3280Thr) c.9593G>C (p.Ser3198Thr) c.4862G>C (p.Ser1621Thr) c.2612G>C (p.Ser871Thr) c.3575G>C (p.Ser1192Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090869C>T | CA344002347 | ASPM | n.2904G>A c.9617G>A (p.Ser3206Asn) c.9839G>A (p.Ser3280Asn) c.9593G>A (p.Ser3198Asn) c.4862G>A (p.Ser1621Asn) c.2612G>A (p.Ser871Asn) c.3575G>A (p.Ser1192Asn) | dbSNP |
| 1 | g.197090870T>A | CA344002350 | ASPM | n.2903A>T c.9616A>T (p.Ser3206Cys) c.9838A>T (p.Ser3280Cys) c.9592A>T (p.Ser3198Cys) c.4861A>T (p.Ser1621Cys) c.2611A>T (p.Ser871Cys) c.3574A>T (p.Ser1192Cys) | |
| 1 | g.197090870T>C | CA344002352 | ASPM | n.2903A>G c.9616A>G (p.Ser3206Gly) c.9838A>G (p.Ser3280Gly) c.9592A>G (p.Ser3198Gly) c.4861A>G (p.Ser1621Gly) c.2611A>G (p.Ser871Gly) c.3574A>G (p.Ser1192Gly) | COSMIC |
| 1 | g.197090870T>G | CA344002355 | ASPM | n.2903A>C c.9616A>C (p.Ser3206Arg) c.9838A>C (p.Ser3280Arg) c.9592A>C (p.Ser3198Arg) c.4861A>C (p.Ser1621Arg) c.2611A>C (p.Ser871Arg) c.3574A>C (p.Ser1192Arg) | |
| 1 | g.197090871A= | CA1217925683 | ASPM | n.2902T= c.9615T= (p.Thr3205=) c.9837T= (p.Thr3279=) c.9591T= (p.Thr3197=) c.4860T= (p.Thr1620=) c.2610T= (p.Thr870=) c.3573T= (p.Thr1191=) | |
| 1 | g.197090871A>C | CA422672405 | ASPM | n.2902T>G c.9615T>G (p.Thr3205=) c.9837T>G (p.Thr3279=) c.9591T>G (p.Thr3197=) c.4860T>G (p.Thr1620=) c.2610T>G (p.Thr870=) c.3573T>G (p.Thr1191=) | gnomAD v4 |
| 1 | g.197090871A>G | CA422672406 | ASPM | n.2902T>C c.9615T>C (p.Thr3205=) c.9837T>C (p.Thr3279=) c.9591T>C (p.Thr3197=) c.4860T>C (p.Thr1620=) c.2610T>C (p.Thr870=) c.3573T>C (p.Thr1191=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090871A>T | CA422672407 | ASPM | n.2902T>A c.9615T>A (p.Thr3205=) c.9837T>A (p.Thr3279=) c.9591T>A (p.Thr3197=) c.4860T>A (p.Thr1620=) c.2610T>A (p.Thr870=) c.3573T>A (p.Thr1191=) | |
| 1 | g.197090872G>A | CA344002358 | ASPM | n.2901C>T c.9614C>T (p.Thr3205Ile) c.9836C>T (p.Thr3279Ile) c.9590C>T (p.Thr3197Ile) c.4859C>T (p.Thr1620Ile) c.2609C>T (p.Thr870Ile) c.3572C>T (p.Thr1191Ile) | |
| 1 | g.197090872G>C | CA344002361 | ASPM | n.2901C>G c.9614C>G (p.Thr3205Ser) c.9836C>G (p.Thr3279Ser) c.9590C>G (p.Thr3197Ser) c.4859C>G (p.Thr1620Ser) c.2609C>G (p.Thr870Ser) c.3572C>G (p.Thr1191Ser) | |
| 1 | g.197090872G>T | CA344002362 | ASPM | n.2901C>A c.9614C>A (p.Thr3205Asn) c.9836C>A (p.Thr3279Asn) c.9590C>A (p.Thr3197Asn) c.4859C>A (p.Thr1620Asn) c.2609C>A (p.Thr870Asn) c.3572C>A (p.Thr1191Asn) | gnomAD v4 |
| 1 | g.197090873T>A | CA344002369 | ASPM | n.2900A>T c.9613A>T (p.Thr3205Ser) c.9835A>T (p.Thr3279Ser) c.9589A>T (p.Thr3197Ser) c.4858A>T (p.Thr1620Ser) c.2608A>T (p.Thr870Ser) c.3571A>T (p.Thr1191Ser) | gnomAD v4 |
| 1 | g.197090873T>C | CA344002365 | ASPM | n.2900A>G c.9613A>G (p.Thr3205Ala) c.9835A>G (p.Thr3279Ala) c.9589A>G (p.Thr3197Ala) c.4858A>G (p.Thr1620Ala) c.2608A>G (p.Thr870Ala) c.3571A>G (p.Thr1191Ala) | |
| 1 | g.197090873T>G | CA344002367 | ASPM | n.2900A>C c.9613A>C (p.Thr3205Pro) c.9835A>C (p.Thr3279Pro) c.9589A>C (p.Thr3197Pro) c.4858A>C (p.Thr1620Pro) c.2608A>C (p.Thr870Pro) c.3571A>C (p.Thr1191Pro) | |
| 1 | g.197090874G>A | CA422672408 | ASPM | n.2899C>T c.9612C>T (p.Phe3204=) c.9834C>T (p.Phe3278=) c.9588C>T (p.Phe3196=) c.4857C>T (p.Phe1619=) c.2607C>T (p.Phe869=) c.3570C>T (p.Phe1190=) | |
| 1 | g.197090874G>C | CA344002372 | ASPM | n.2899C>G c.9612C>G (p.Phe3204Leu) c.9834C>G (p.Phe3278Leu) c.9588C>G (p.Phe3196Leu) c.4857C>G (p.Phe1619Leu) c.2607C>G (p.Phe869Leu) c.3570C>G (p.Phe1190Leu) | |
| 1 | g.197090874G>T | CA344002373 | ASPM | n.2899C>A c.9612C>A (p.Phe3204Leu) c.9834C>A (p.Phe3278Leu) c.9588C>A (p.Phe3196Leu) c.4857C>A (p.Phe1619Leu) c.2607C>A (p.Phe869Leu) c.3570C>A (p.Phe1190Leu) | |
| 1 | g.197090875A>C | CA344002374 | ASPM | n.2898T>G c.9611T>G (p.Phe3204Cys) c.9833T>G (p.Phe3278Cys) c.9587T>G (p.Phe3196Cys) c.4856T>G (p.Phe1619Cys) c.2606T>G (p.Phe869Cys) c.3569T>G (p.Phe1190Cys) | |
| 1 | g.197090875A>G | CA344002375 | ASPM | n.2898T>C c.9611T>C (p.Phe3204Ser) c.9833T>C (p.Phe3278Ser) c.9587T>C (p.Phe3196Ser) c.4856T>C (p.Phe1619Ser) c.2606T>C (p.Phe869Ser) c.3569T>C (p.Phe1190Ser) | |
| 1 | g.197090875A>T | CA344002377 | ASPM | n.2898T>A c.9611T>A (p.Phe3204Tyr) c.9833T>A (p.Phe3278Tyr) c.9587T>A (p.Phe3196Tyr) c.4856T>A (p.Phe1619Tyr) c.2606T>A (p.Phe869Tyr) c.3569T>A (p.Phe1190Tyr) | |
| 1 | g.197090876A>C | CA344002384 | ASPM | n.2897T>G c.9610T>G (p.Phe3204Val) c.9832T>G (p.Phe3278Val) c.9586T>G (p.Phe3196Val) c.4855T>G (p.Phe1619Val) c.2605T>G (p.Phe869Val) c.3568T>G (p.Phe1190Val) | |
| 1 | g.197090876A>G | CA344002380 | ASPM | n.2897T>C c.9610T>C (p.Phe3204Leu) c.9832T>C (p.Phe3278Leu) c.9586T>C (p.Phe3196Leu) c.4855T>C (p.Phe1619Leu) c.2605T>C (p.Phe869Leu) c.3568T>C (p.Phe1190Leu) | |
| 1 | g.197090876A>T | CA344002383 | ASPM | n.2897T>A c.9610T>A (p.Phe3204Ile) c.9832T>A (p.Phe3278Ile) c.9586T>A (p.Phe3196Ile) c.4855T>A (p.Phe1619Ile) c.2605T>A (p.Phe869Ile) c.3568T>A (p.Phe1190Ile) | gnomAD v4 COSMIC |
| 1 | g.197090877T>A | CA344002385 | ASPM | n.2896A>T c.9609A>T (p.Lys3203Asn) c.9831A>T (p.Lys3277Asn) c.9585A>T (p.Lys3195Asn) c.4854A>T (p.Lys1618Asn) c.2604A>T (p.Lys868Asn) c.3567A>T (p.Lys1189Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090877T>C | CA422672409 | ASPM | n.2896A>G c.9609A>G (p.Lys3203=) c.9831A>G (p.Lys3277=) c.9585A>G (p.Lys3195=) c.4854A>G (p.Lys1618=) c.2604A>G (p.Lys868=) c.3567A>G (p.Lys1189=) | dbSNP gnomAD v4 |
| 1 | g.197090877T>G | CA344002386 | ASPM | n.2896A>C c.9609A>C (p.Lys3203Asn) c.9831A>C (p.Lys3277Asn) c.9585A>C (p.Lys3195Asn) c.4854A>C (p.Lys1618Asn) c.2604A>C (p.Lys868Asn) c.3567A>C (p.Lys1189Asn) | |
| 1 | g.197090877T= | CA1217925685 | ASPM | n.2896A= c.9609A= (p.Lys3203=) c.9831A= (p.Lys3277=) c.9585A= (p.Lys3195=) c.4854A= (p.Lys1618=) c.2604A= (p.Lys868=) c.3567A= (p.Lys1189=) | |
| 1 | g.197090878T>A | CA344002391 | ASPM | n.2895A>T c.9608A>T (p.Lys3203Ile) c.9830A>T (p.Lys3277Ile) c.9584A>T (p.Lys3195Ile) c.4853A>T (p.Lys1618Ile) c.2603A>T (p.Lys868Ile) c.3566A>T (p.Lys1189Ile) | |
| 1 | g.197090878T>C | CA344002393 | ASPM | n.2895A>G c.9608A>G (p.Lys3203Arg) c.9830A>G (p.Lys3277Arg) c.9584A>G (p.Lys3195Arg) c.4853A>G (p.Lys1618Arg) c.2603A>G (p.Lys868Arg) c.3566A>G (p.Lys1189Arg) | dbSNP |
| 1 | g.197090878T>G | CA344002395 | ASPM | n.2895A>C c.9608A>C (p.Lys3203Thr) c.9830A>C (p.Lys3277Thr) c.9584A>C (p.Lys3195Thr) c.4853A>C (p.Lys1618Thr) c.2603A>C (p.Lys868Thr) c.3566A>C (p.Lys1189Thr) | |
| 1 | g.197090878T= | CA1217925688 | ASPM | n.2895A= c.9608A= (p.Lys3203=) c.9830A= (p.Lys3277=) c.9584A= (p.Lys3195=) c.4853A= (p.Lys1618=) c.2603A= (p.Lys868=) c.3566A= (p.Lys1189=) | |
| 1 | g.197090879T>A | CA344002398 | ASPM | n.2894A>T c.9607A>T (p.Lys3203Ter) c.9829A>T (p.Lys3277Ter) c.9583A>T (p.Lys3195Ter) c.4852A>T (p.Lys1618Ter) c.2602A>T (p.Lys868Ter) c.3565A>T (p.Lys1189Ter) | |
| 1 | g.197090879T>C | CA344002400 | ASPM | n.2894A>G c.9607A>G (p.Lys3203Glu) c.9829A>G (p.Lys3277Glu) c.9583A>G (p.Lys3195Glu) c.4852A>G (p.Lys1618Glu) c.2602A>G (p.Lys868Glu) c.3565A>G (p.Lys1189Glu) | |
| 1 | g.197090879T>G | CA344002403 | ASPM | n.2894A>C c.9607A>C (p.Lys3203Gln) c.9829A>C (p.Lys3277Gln) c.9583A>C (p.Lys3195Gln) c.4852A>C (p.Lys1618Gln) c.2602A>C (p.Lys868Gln) c.3565A>C (p.Lys1189Gln) | |
| 1 | g.197090880T>A | CA344002407 | ASPM | n.2893A>T c.9606A>T (p.Glu3202Asp) c.9828A>T (p.Glu3276Asp) c.9582A>T (p.Glu3194Asp) c.4851A>T (p.Glu1617Asp) c.2601A>T (p.Glu867Asp) c.3564A>T (p.Glu1188Asp) | |
| 1 | g.197090880T>C | CA422672410 | ASPM | n.2893A>G c.9606A>G (p.Glu3202=) c.9828A>G (p.Glu3276=) c.9582A>G (p.Glu3194=) c.4851A>G (p.Glu1617=) c.2601A>G (p.Glu867=) c.3564A>G (p.Glu1188=) | |
| 1 | g.197090880T>G | CA344002409 | ASPM | n.2893A>C c.9606A>C (p.Glu3202Asp) c.9828A>C (p.Glu3276Asp) c.9582A>C (p.Glu3194Asp) c.4851A>C (p.Glu1617Asp) c.2601A>C (p.Glu867Asp) c.3564A>C (p.Glu1188Asp) | |
| 1 | g.197090881T>A | CA344002412 | ASPM | n.2892A>T c.9605A>T (p.Glu3202Val) c.9827A>T (p.Glu3276Val) c.9581A>T (p.Glu3194Val) c.4850A>T (p.Glu1617Val) c.2600A>T (p.Glu867Val) c.3563A>T (p.Glu1188Val) | |
| 1 | g.197090881T>C | CA344002414 | ASPM | n.2892A>G c.9605A>G (p.Glu3202Gly) c.9827A>G (p.Glu3276Gly) c.9581A>G (p.Glu3194Gly) c.4850A>G (p.Glu1617Gly) c.2600A>G (p.Glu867Gly) c.3563A>G (p.Glu1188Gly) | gnomAD v4 |
| 1 | g.197090881T>G | CA344002417 | ASPM | n.2892A>C c.9605A>C (p.Glu3202Ala) c.9827A>C (p.Glu3276Ala) c.9581A>C (p.Glu3194Ala) c.4850A>C (p.Glu1617Ala) c.2600A>C (p.Glu867Ala) c.3563A>C (p.Glu1188Ala) | |
| 1 | g.197090882C>A | CA344002420 | ASPM | n.2891G>T c.9604G>T (p.Glu3202Ter) c.9826G>T (p.Glu3276Ter) c.9580G>T (p.Glu3194Ter) c.4849G>T (p.Glu1617Ter) c.2599G>T (p.Glu867Ter) c.3562G>T (p.Glu1188Ter) | |
| 1 | g.197090882C= | CA1217925690 | ASPM | n.2891G= c.9604G= (p.Glu3202=) c.9826G= (p.Glu3276=) c.9580G= (p.Glu3194=) c.4849G= (p.Glu1617=) c.2599G= (p.Glu867=) c.3562G= (p.Glu1188=) | |
| 1 | g.197090882C>G | CA344002423 | ASPM | n.2891G>C c.9604G>C (p.Glu3202Gln) c.9826G>C (p.Glu3276Gln) c.9580G>C (p.Glu3194Gln) c.4849G>C (p.Glu1617Gln) c.2599G>C (p.Glu867Gln) c.3562G>C (p.Glu1188Gln) | |
| 1 | g.197090882C>T | CA35862183 | ASPM | n.2891G>A c.9604G>A (p.Glu3202Lys) c.9826G>A (p.Glu3276Lys) c.9580G>A (p.Glu3194Lys) c.4849G>A (p.Glu1617Lys) c.2599G>A (p.Glu867Lys) c.3562G>A (p.Glu1188Lys) | dbSNP |
| 1 | g.197090883C>A | CA344002428 | ASPM | n.2890G>T c.9603G>T (p.Gln3201His) c.9825G>T (p.Gln3275His) c.9579G>T (p.Gln3193His) c.4848G>T (p.Gln1616His) c.2598G>T (p.Gln866His) c.3561G>T (p.Gln1187His) | |
| 1 | g.197090883C>G | CA344002430 | ASPM | n.2890G>C c.9603G>C (p.Gln3201His) c.9825G>C (p.Gln3275His) c.9579G>C (p.Gln3193His) c.4848G>C (p.Gln1616His) c.2598G>C (p.Gln866His) c.3561G>C (p.Gln1187His) | |
| 1 | g.197090883C>T | CA422672411 | ASPM | n.2890G>A c.9603G>A (p.Gln3201=) c.9825G>A (p.Gln3275=) c.9579G>A (p.Gln3193=) c.4848G>A (p.Gln1616=) c.2598G>A (p.Gln866=) c.3561G>A (p.Gln1187=) | |
| 1 | g.197090884T>A | CA344002434 | ASPM | n.2889A>T c.9602A>T (p.Gln3201Leu) c.9824A>T (p.Gln3275Leu) c.9578A>T (p.Gln3193Leu) c.4847A>T (p.Gln1616Leu) c.2597A>T (p.Gln866Leu) c.3560A>T (p.Gln1187Leu) | |
| 1 | g.197090884T>C | CA344002436 | ASPM | n.2889A>G c.9602A>G (p.Gln3201Arg) c.9824A>G (p.Gln3275Arg) c.9578A>G (p.Gln3193Arg) c.4847A>G (p.Gln1616Arg) c.2597A>G (p.Gln866Arg) c.3560A>G (p.Gln1187Arg) | |
| 1 | g.197090884T>G | CA344002438 | ASPM | n.2889A>C c.9602A>C (p.Gln3201Pro) c.9824A>C (p.Gln3275Pro) c.9578A>C (p.Gln3193Pro) c.4847A>C (p.Gln1616Pro) c.2597A>C (p.Gln866Pro) c.3560A>C (p.Gln1187Pro) | |
| 1 | g.197090885G>A | CA344002440 | ASPM | n.2888C>T c.9601C>T (p.Gln3201Ter) c.9823C>T (p.Gln3275Ter) c.9577C>T (p.Gln3193Ter) c.4846C>T (p.Gln1616Ter) c.2596C>T (p.Gln866Ter) c.3559C>T (p.Gln1187Ter) | |
| 1 | g.197090885G>C | CA344002442 | ASPM | n.2888C>G c.9601C>G (p.Gln3201Glu) c.9823C>G (p.Gln3275Glu) c.9577C>G (p.Gln3193Glu) c.4846C>G (p.Gln1616Glu) c.2596C>G (p.Gln866Glu) c.3559C>G (p.Gln1187Glu) | |
| 1 | g.197090885G>T | CA344002444 | ASPM | n.2888C>A c.9601C>A (p.Gln3201Lys) c.9823C>A (p.Gln3275Lys) c.9577C>A (p.Gln3193Lys) c.4846C>A (p.Gln1616Lys) c.2596C>A (p.Gln866Lys) c.3559C>A (p.Gln1187Lys) | |
| 1 | g.197090886del | CA2649660857 | ASPM | n.2887del c.9600del (p.Lys3200AsnfsTer?) c.9822del (p.Lys3274AsnfsTer?) c.9576del (p.Lys3192AsnfsTer?) c.4845del (p.Lys1615AsnfsTer?) c.2595del (p.Lys865AsnfsTer?) c.3558del (p.Lys1186AsnfsTer?) | gnomAD v4 |
| 1 | g.197090886C>A | CA344002446 | ASPM | n.2887G>T c.9600G>T (p.Lys3200Asn) c.9822G>T (p.Lys3274Asn) c.9576G>T (p.Lys3192Asn) c.4845G>T (p.Lys1615Asn) c.2595G>T (p.Lys865Asn) c.3558G>T (p.Lys1186Asn) | |
| 1 | g.197090886C>G | CA344002447 | ASPM | n.2887G>C c.9600G>C (p.Lys3200Asn) c.9822G>C (p.Lys3274Asn) c.9576G>C (p.Lys3192Asn) c.4845G>C (p.Lys1615Asn) c.2595G>C (p.Lys865Asn) c.3558G>C (p.Lys1186Asn) | |
| 1 | g.197090886C>T | CA422672412 | ASPM | n.2887G>A c.9600G>A (p.Lys3200=) c.9822G>A (p.Lys3274=) c.9576G>A (p.Lys3192=) c.4845G>A (p.Lys1615=) c.2595G>A (p.Lys865=) c.3558G>A (p.Lys1186=) | |
| 1 | g.197090887T>A | CA344002450 | ASPM | n.2886A>T c.9599A>T (p.Lys3200Met) c.9821A>T (p.Lys3274Met) c.9575A>T (p.Lys3192Met) c.4844A>T (p.Lys1615Met) c.2594A>T (p.Lys865Met) c.3557A>T (p.Lys1186Met) | gnomAD v4 |
| 1 | g.197090887T>C | CA344002452 | ASPM | n.2886A>G c.9599A>G (p.Lys3200Arg) c.9821A>G (p.Lys3274Arg) c.9575A>G (p.Lys3192Arg) c.4844A>G (p.Lys1615Arg) c.2594A>G (p.Lys865Arg) c.3557A>G (p.Lys1186Arg) | |
| 1 | g.197090887T>G | CA344002455 | ASPM | n.2886A>C c.9599A>C (p.Lys3200Thr) c.9821A>C (p.Lys3274Thr) c.9575A>C (p.Lys3192Thr) c.4844A>C (p.Lys1615Thr) c.2594A>C (p.Lys865Thr) c.3557A>C (p.Lys1186Thr) | |
| 1 | g.197090888T>A | CA344002463 | ASPM | n.2885A>T c.9598A>T (p.Lys3200Ter) c.9820A>T (p.Lys3274Ter) c.9574A>T (p.Lys3192Ter) c.4843A>T (p.Lys1615Ter) c.2593A>T (p.Lys865Ter) c.3556A>T (p.Lys1186Ter) | |
| 1 | g.197090888T>C | CA344002459 | ASPM | n.2885A>G c.9598A>G (p.Lys3200Glu) c.9820A>G (p.Lys3274Glu) c.9574A>G (p.Lys3192Glu) c.4843A>G (p.Lys1615Glu) c.2593A>G (p.Lys865Glu) c.3556A>G (p.Lys1186Glu) | |
| 1 | g.197090888T>G | CA344002462 | ASPM | n.2885A>C c.9598A>C (p.Lys3200Gln) c.9820A>C (p.Lys3274Gln) c.9574A>C (p.Lys3192Gln) c.4843A>C (p.Lys1615Gln) c.2593A>C (p.Lys865Gln) c.3556A>C (p.Lys1186Gln) | |
| 1 | g.197090889T>A | CA344002466 | ASPM | n.2884A>T c.9597A>T (p.Lys3199Asn) c.9819A>T (p.Lys3273Asn) c.9573A>T (p.Lys3191Asn) c.4842A>T (p.Lys1614Asn) c.2592A>T (p.Lys864Asn) c.3555A>T (p.Lys1185Asn) | |
| 1 | g.197090889T>C | CA422672413 | ASPM | n.2884A>G c.9597A>G (p.Lys3199=) c.9819A>G (p.Lys3273=) c.9573A>G (p.Lys3191=) c.4842A>G (p.Lys1614=) c.2592A>G (p.Lys864=) c.3555A>G (p.Lys1185=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090889T>G | CA344002469 | ASPM | n.2884A>C c.9597A>C (p.Lys3199Asn) c.9819A>C (p.Lys3273Asn) c.9573A>C (p.Lys3191Asn) c.4842A>C (p.Lys1614Asn) c.2592A>C (p.Lys864Asn) c.3555A>C (p.Lys1185Asn) | |
| 1 | g.197090889T= | CA1217925692 | ASPM | n.2884A= c.9597A= (p.Lys3199=) c.9819A= (p.Lys3273=) c.9573A= (p.Lys3191=) c.4842A= (p.Lys1614=) c.2592A= (p.Lys864=) c.3555A= (p.Lys1185=) | |
| 1 | g.197090890T>A | CA344002472 | ASPM | n.2883A>T c.9596A>T (p.Lys3199Ile) c.9818A>T (p.Lys3273Ile) c.9572A>T (p.Lys3191Ile) c.4841A>T (p.Lys1614Ile) c.2591A>T (p.Lys864Ile) c.3554A>T (p.Lys1185Ile) | |
| 1 | g.197090890T>C | CA344002475 | ASPM | n.2883A>G c.9596A>G (p.Lys3199Arg) c.9818A>G (p.Lys3273Arg) c.9572A>G (p.Lys3191Arg) c.4841A>G (p.Lys1614Arg) c.2591A>G (p.Lys864Arg) c.3554A>G (p.Lys1185Arg) | |
| 1 | g.197090890T>G | CA344002477 | ASPM | n.2883A>C c.9596A>C (p.Lys3199Thr) c.9818A>C (p.Lys3273Thr) c.9572A>C (p.Lys3191Thr) c.4841A>C (p.Lys1614Thr) c.2591A>C (p.Lys864Thr) c.3554A>C (p.Lys1185Thr) | |
| 1 | g.197090891T>A | CA342302 | ASPM | n.2882A>T c.9595A>T (p.Lys3199Ter) c.9817A>T (p.Lys3273Ter) c.9571A>T (p.Lys3191Ter) c.4840A>T (p.Lys1614Ter) c.2590A>T (p.Lys864Ter) c.3553A>T (p.Lys1185Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.197090891T>C | CA344002481 | ASPM | n.2882A>G c.9595A>G (p.Lys3199Glu) c.9817A>G (p.Lys3273Glu) c.9571A>G (p.Lys3191Glu) c.4840A>G (p.Lys1614Glu) c.2590A>G (p.Lys864Glu) c.3553A>G (p.Lys1185Glu) | |
| 1 | g.197090891T>G | CA344002488 | ASPM | n.2882A>C c.9595A>C (p.Lys3199Gln) c.9817A>C (p.Lys3273Gln) c.9571A>C (p.Lys3191Gln) c.4840A>C (p.Lys1614Gln) c.2590A>C (p.Lys864Gln) c.3553A>C (p.Lys1185Gln) | |
| 1 | g.197090891T= | CA1143355789 | ASPM | n.2882A= c.9595A= (p.Lys3199=) c.9817A= (p.Lys3273=) c.9571A= (p.Lys3191=) c.4840A= (p.Lys1614=) c.2590A= (p.Lys864=) c.3553A= (p.Lys1185=) | |
| 1 | g.197090892A= | CA1217925699 | ASPM | n.2881T= c.9594T= (p.Arg3198=) c.9816T= (p.Arg3272=) c.9570T= (p.Arg3190=) c.4839T= (p.Arg1613=) c.2589T= (p.Arg863=) c.3552T= (p.Arg1184=) | |
| 1 | g.197090892A>C | CA422672414 | ASPM | n.2881T>G c.9594T>G (p.Arg3198=) c.9816T>G (p.Arg3272=) c.9570T>G (p.Arg3190=) c.4839T>G (p.Arg1613=) c.2589T>G (p.Arg863=) c.3552T>G (p.Arg1184=) | |
| 1 | g.197090892A>G | CA422672415 | ASPM | n.2881T>C c.9594T>C (p.Arg3198=) c.9816T>C (p.Arg3272=) c.9570T>C (p.Arg3190=) c.4839T>C (p.Arg1613=) c.2589T>C (p.Arg863=) c.3552T>C (p.Arg1184=) | dbSNP gnomAD v2 |
| 1 | g.197090892A>T | CA422672416 | ASPM | n.2881T>A c.9594T>A (p.Arg3198=) c.9816T>A (p.Arg3272=) c.9570T>A (p.Arg3190=) c.4839T>A (p.Arg1613=) c.2589T>A (p.Arg863=) c.3552T>A (p.Arg1184=) | |
| 1 | g.197090893C>A | CA1308916 | ASPM | n.2880G>T c.9593G>T (p.Arg3198Leu) c.9815G>T (p.Arg3272Leu) c.9569G>T (p.Arg3190Leu) c.4838G>T (p.Arg1613Leu) c.2588G>T (p.Arg863Leu) c.3551G>T (p.Arg1184Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090893C= | CA1142047998 | ASPM | n.2880G= c.9593G= (p.Arg3198=) c.9815G= (p.Arg3272=) c.9569G= (p.Arg3190=) c.4838G= (p.Arg1613=) c.2588G= (p.Arg863=) c.3551G= (p.Arg1184=) | |
| 1 | g.197090893C>G | CA344002492 | ASPM | n.2880G>C c.9593G>C (p.Arg3198Pro) c.9815G>C (p.Arg3272Pro) c.9569G>C (p.Arg3190Pro) c.4838G>C (p.Arg1613Pro) c.2588G>C (p.Arg863Pro) c.3551G>C (p.Arg1184Pro) | |
| 1 | g.197090893C>T | CA1308915 | ASPM | n.2880G>A c.9593G>A (p.Arg3198His) c.9815G>A (p.Arg3272His) c.9569G>A (p.Arg3190His) c.4838G>A (p.Arg1613His) c.2588G>A (p.Arg863His) c.3551G>A (p.Arg1184His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197090893_197090896delinsCGGA | CA1217925703 | ASPM | n.2877_2880delinsTCCG c.9590_9593delinsTCCG (p.Leu3197=) c.9812_9815delinsTCCG (p.Leu3271=) c.9566_9569delinsTCCG (p.Leu3189=) c.4835_4838delinsTCCG (p.Leu1612=) c.2585_2588delinsTCCG (p.Leu862=) c.3548_3551delinsTCCG (p.Leu1183=) | |
| 1 | g.197090894G>A | CA1308917 | ASPM | n.2879C>T c.9592C>T (p.Arg3198Cys) c.9814C>T (p.Arg3272Cys) c.9568C>T (p.Arg3190Cys) c.4837C>T (p.Arg1613Cys) c.2587C>T (p.Arg863Cys) c.3550C>T (p.Arg1184Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197090894G>C | CA344002498 | ASPM | n.2879C>G c.9592C>G (p.Arg3198Gly) c.9814C>G (p.Arg3272Gly) c.9568C>G (p.Arg3190Gly) c.4837C>G (p.Arg1613Gly) c.2587C>G (p.Arg863Gly) c.3550C>G (p.Arg1184Gly) | gnomAD v4 |
| 1 | g.197090894G= | CA1217925707 | ASPM | n.2879C= c.9592C= (p.Arg3198=) c.9814C= (p.Arg3272=) c.9568C= (p.Arg3190=) c.4837C= (p.Arg1613=) c.2587C= (p.Arg863=) c.3550C= (p.Arg1184=) | |
| 1 | g.197090894G>T | CA1308918 | ASPM | n.2879C>A c.9592C>A (p.Arg3198Ser) c.9814C>A (p.Arg3272Ser) c.9568C>A (p.Arg3190Ser) c.4837C>A (p.Arg1613Ser) c.2587C>A (p.Arg863Ser) c.3550C>A (p.Arg1184Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090898_197090900del | CA528535104 | ASPM | n.2877_2879del c.9590_9592del (p.Leu3197del) c.9812_9814del (p.Leu3271del) c.9566_9568del (p.Leu3189del) c.4835_4837del (p.Leu1612del) c.2585_2587del (p.Leu862del) c.3548_3550del (p.Leu1183del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090895G>A | CA422672417 | ASPM | n.2878C>T c.9591C>T (p.Leu3197=) c.9813C>T (p.Leu3271=) c.9567C>T (p.Leu3189=) c.4836C>T (p.Leu1612=) c.2586C>T (p.Leu862=) c.3549C>T (p.Leu1183=) | gnomAD v4 |
| 1 | g.197090895G>C | CA422672418 | ASPM | n.2878C>G c.9591C>G (p.Leu3197=) c.9813C>G (p.Leu3271=) c.9567C>G (p.Leu3189=) c.4836C>G (p.Leu1612=) c.2586C>G (p.Leu862=) c.3549C>G (p.Leu1183=) | |
| 1 | g.197090895G= | CA1217925712 | ASPM | n.2878C= c.9591C= (p.Leu3197=) c.9813C= (p.Leu3271=) c.9567C= (p.Leu3189=) c.4836C= (p.Leu1612=) c.2586C= (p.Leu862=) c.3549C= (p.Leu1183=) | |
| 1 | g.197090895G>T | CA422672419 | ASPM | n.2878C>A c.9591C>A (p.Leu3197=) c.9813C>A (p.Leu3271=) c.9567C>A (p.Leu3189=) c.4836C>A (p.Leu1612=) c.2586C>A (p.Leu862=) c.3549C>A (p.Leu1183=) | dbSNP gnomAD v2 |
| 1 | g.197090896A>C | CA344002500 | ASPM | n.2877T>G c.9590T>G (p.Leu3197Arg) c.9812T>G (p.Leu3271Arg) c.9566T>G (p.Leu3189Arg) c.4835T>G (p.Leu1612Arg) c.2585T>G (p.Leu862Arg) c.3548T>G (p.Leu1183Arg) | |
| 1 | g.197090896A>G | CA344002503 | ASPM | n.2877T>C c.9590T>C (p.Leu3197Pro) c.9812T>C (p.Leu3271Pro) c.9566T>C (p.Leu3189Pro) c.4835T>C (p.Leu1612Pro) c.2585T>C (p.Leu862Pro) c.3548T>C (p.Leu1183Pro) | |
| 1 | g.197090896A>T | CA344002505 | ASPM | n.2877T>A c.9590T>A (p.Leu3197His) c.9812T>A (p.Leu3271His) c.9566T>A (p.Leu3189His) c.4835T>A (p.Leu1612His) c.2585T>A (p.Leu862His) c.3548T>A (p.Leu1183His) | |
| 1 | g.197090897G>A | CA344002507 | ASPM | n.2876C>T c.9589C>T (p.Leu3197Phe) c.9811C>T (p.Leu3271Phe) c.9565C>T (p.Leu3189Phe) c.4834C>T (p.Leu1612Phe) c.2584C>T (p.Leu862Phe) c.3547C>T (p.Leu1183Phe) | |
| 1 | g.197090897G>C | CA344002508 | ASPM | n.2876C>G c.9589C>G (p.Leu3197Val) c.9811C>G (p.Leu3271Val) c.9565C>G (p.Leu3189Val) c.4834C>G (p.Leu1612Val) c.2584C>G (p.Leu862Val) c.3547C>G (p.Leu1183Val) | |
| 1 | g.197090897G>T | CA344002509 | ASPM | n.2876C>A c.9589C>A (p.Leu3197Ile) c.9811C>A (p.Leu3271Ile) c.9565C>A (p.Leu3189Ile) c.4834C>A (p.Leu1612Ile) c.2584C>A (p.Leu862Ile) c.3547C>A (p.Leu1183Ile) | |
| 1 | g.197090898G>A | CA422672420 | ASPM | n.2875C>T c.9588C>T (p.Leu3196=) c.9810C>T (p.Leu3270=) c.9564C>T (p.Leu3188=) c.4833C>T (p.Leu1611=) c.2583C>T (p.Leu861=) c.3546C>T (p.Leu1182=) | dbSNP gnomAD v2 |
| 1 | g.197090898G>C | CA35862187 | ASPM | n.2875C>G c.9588C>G (p.Leu3196=) c.9810C>G (p.Leu3270=) c.9564C>G (p.Leu3188=) c.4833C>G (p.Leu1611=) c.2583C>G (p.Leu861=) c.3546C>G (p.Leu1182=) | dbSNP gnomAD v4 |
| 1 | g.197090898G= | CA1217925713 | ASPM | n.2875C= c.9588C= (p.Leu3196=) c.9810C= (p.Leu3270=) c.9564C= (p.Leu3188=) c.4833C= (p.Leu1611=) c.2583C= (p.Leu861=) c.3546C= (p.Leu1182=) | |
| 1 | g.197090898G>T | CA35862190 | ASPM | n.2875C>A c.9588C>A (p.Leu3196=) c.9810C>A (p.Leu3270=) c.9564C>A (p.Leu3188=) c.4833C>A (p.Leu1611=) c.2583C>A (p.Leu861=) c.3546C>A (p.Leu1182=) | dbSNP |
| 1 | g.197090899A= | CA1217925717 | ASPM | n.2874T= c.9587T= (p.Leu3196=) c.9809T= (p.Leu3270=) c.9563T= (p.Leu3188=) c.4832T= (p.Leu1611=) c.2582T= (p.Leu861=) c.3545T= (p.Leu1182=) | |
| 1 | g.197090899A>C | CA344002515 | ASPM | n.2874T>G c.9587T>G (p.Leu3196Arg) c.9809T>G (p.Leu3270Arg) c.9563T>G (p.Leu3188Arg) c.4832T>G (p.Leu1611Arg) c.2582T>G (p.Leu861Arg) c.3545T>G (p.Leu1182Arg) | |
| 1 | g.197090899A>G | CA344002511 | ASPM | n.2874T>C c.9587T>C (p.Leu3196Pro) c.9809T>C (p.Leu3270Pro) c.9563T>C (p.Leu3188Pro) c.4832T>C (p.Leu1611Pro) c.2582T>C (p.Leu861Pro) c.3545T>C (p.Leu1182Pro) | dbSNP |
| 1 | g.197090899A>T | CA344002513 | ASPM | n.2874T>A c.9587T>A (p.Leu3196His) c.9809T>A (p.Leu3270His) c.9563T>A (p.Leu3188His) c.4832T>A (p.Leu1611His) c.2582T>A (p.Leu861His) c.3545T>A (p.Leu1182His) | |
| 1 | g.197090900G>A | CA344002518 | ASPM | n.2873C>T c.9586C>T (p.Leu3196Phe) c.9808C>T (p.Leu3270Phe) c.9562C>T (p.Leu3188Phe) c.4831C>T (p.Leu1611Phe) c.2581C>T (p.Leu861Phe) c.3544C>T (p.Leu1182Phe) | |
| 1 | g.197090900G>C | CA344002520 | ASPM | n.2873C>G c.9586C>G (p.Leu3196Val) c.9808C>G (p.Leu3270Val) c.9562C>G (p.Leu3188Val) c.4831C>G (p.Leu1611Val) c.2581C>G (p.Leu861Val) c.3544C>G (p.Leu1182Val) | |
| 1 | g.197090900G>T | CA344002523 | ASPM | n.2873C>A c.9586C>A (p.Leu3196Ile) c.9808C>A (p.Leu3270Ile) c.9562C>A (p.Leu3188Ile) c.4831C>A (p.Leu1611Ile) c.2581C>A (p.Leu861Ile) c.3544C>A (p.Leu1182Ile) | |
| 1 | g.197090901A>C | CA344002526 | ASPM | n.2872T>G c.9585T>G (p.Phe3195Leu) c.9807T>G (p.Phe3269Leu) c.9561T>G (p.Phe3187Leu) c.4830T>G (p.Phe1610Leu) c.2580T>G (p.Phe860Leu) c.3543T>G (p.Phe1181Leu) | |
| 1 | g.197090901A>G | CA422672421 | ASPM | n.2872T>C c.9585T>C (p.Phe3195=) c.9807T>C (p.Phe3269=) c.9561T>C (p.Phe3187=) c.4830T>C (p.Phe1610=) c.2580T>C (p.Phe860=) c.3543T>C (p.Phe1181=) | |
| 1 | g.197090901A>T | CA344002527 | ASPM | n.2872T>A c.9585T>A (p.Phe3195Leu) c.9807T>A (p.Phe3269Leu) c.9561T>A (p.Phe3187Leu) c.4830T>A (p.Phe1610Leu) c.2580T>A (p.Phe860Leu) c.3543T>A (p.Phe1181Leu) | |
| 1 | g.197090902A>C | CA344002532 | ASPM | n.2871T>G c.9584T>G (p.Phe3195Cys) c.9806T>G (p.Phe3269Cys) c.9560T>G (p.Phe3187Cys) c.4829T>G (p.Phe1610Cys) c.2579T>G (p.Phe860Cys) c.3542T>G (p.Phe1181Cys) | |
| 1 | g.197090902A>G | CA344002537 | ASPM | n.2871T>C c.9584T>C (p.Phe3195Ser) c.9806T>C (p.Phe3269Ser) c.9560T>C (p.Phe3187Ser) c.4829T>C (p.Phe1610Ser) c.2579T>C (p.Phe860Ser) c.3542T>C (p.Phe1181Ser) | |
| 1 | g.197090902A>T | CA344002535 | ASPM | n.2871T>A c.9584T>A (p.Phe3195Tyr) c.9806T>A (p.Phe3269Tyr) c.9560T>A (p.Phe3187Tyr) c.4829T>A (p.Phe1610Tyr) c.2579T>A (p.Phe860Tyr) c.3542T>A (p.Phe1181Tyr) | COSMIC |
| 1 | g.197090903A= | CA1217925718 | ASPM | n.2870T= c.9583T= (p.Phe3195=) c.9805T= (p.Phe3269=) c.9559T= (p.Phe3187=) c.4828T= (p.Phe1610=) c.2578T= (p.Phe860=) c.3541T= (p.Phe1181=) | |
| 1 | g.197090903A>C | CA344002540 | ASPM | n.2870T>G c.9583T>G (p.Phe3195Val) c.9805T>G (p.Phe3269Val) c.9559T>G (p.Phe3187Val) c.4828T>G (p.Phe1610Val) c.2578T>G (p.Phe860Val) c.3541T>G (p.Phe1181Val) | |
| 1 | g.197090903A>G | CA344002543 | ASPM | n.2870T>C c.9583T>C (p.Phe3195Leu) c.9805T>C (p.Phe3269Leu) c.9559T>C (p.Phe3187Leu) c.4828T>C (p.Phe1610Leu) c.2578T>C (p.Phe860Leu) c.3541T>C (p.Phe1181Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090903A>T | CA344002544 | ASPM | n.2870T>A c.9583T>A (p.Phe3195Ile) c.9805T>A (p.Phe3269Ile) c.9559T>A (p.Phe3187Ile) c.4828T>A (p.Phe1610Ile) c.2578T>A (p.Phe860Ile) c.3541T>A (p.Phe1181Ile) | |
| 1 | g.197090904A>C | CA344002548 | ASPM | n.2869T>G c.9582T>G (p.His3194Gln) c.9804T>G (p.His3268Gln) c.9558T>G (p.His3186Gln) c.4827T>G (p.His1609Gln) c.2577T>G (p.His859Gln) c.3540T>G (p.His1180Gln) | |
| 1 | g.197090904A>G | CA422672422 | ASPM | n.2869T>C c.9582T>C (p.His3194=) c.9804T>C (p.His3268=) c.9558T>C (p.His3186=) c.4827T>C (p.His1609=) c.2577T>C (p.His859=) c.3540T>C (p.His1180=) | |
| 1 | g.197090904A>T | CA344002552 | ASPM | n.2869T>A c.9582T>A (p.His3194Gln) c.9804T>A (p.His3268Gln) c.9558T>A (p.His3186Gln) c.4827T>A (p.His1609Gln) c.2577T>A (p.His859Gln) c.3540T>A (p.His1180Gln) | |
| 1 | g.197090905T>A | CA344002555 | ASPM | n.2868A>T c.9581A>T (p.His3194Leu) c.9803A>T (p.His3268Leu) c.9557A>T (p.His3186Leu) c.4826A>T (p.His1609Leu) c.2576A>T (p.His859Leu) c.3539A>T (p.His1180Leu) | |
| 1 | g.197090905T>C | CA344002556 | ASPM | n.2868A>G c.9581A>G (p.His3194Arg) c.9803A>G (p.His3268Arg) c.9557A>G (p.His3186Arg) c.4826A>G (p.His1609Arg) c.2576A>G (p.His859Arg) c.3539A>G (p.His1180Arg) | dbSNP gnomAD v4 |
| 1 | g.197090905T>G | CA344002557 | ASPM | n.2868A>C c.9581A>C (p.His3194Pro) c.9803A>C (p.His3268Pro) c.9557A>C (p.His3186Pro) c.4826A>C (p.His1609Pro) c.2576A>C (p.His859Pro) c.3539A>C (p.His1180Pro) | |
| 1 | g.197090905T= | CA1217925720 | ASPM | n.2868A= c.9581A= (p.His3194=) c.9803A= (p.His3268=) c.9557A= (p.His3186=) c.4826A= (p.His1609=) c.2576A= (p.His859=) c.3539A= (p.His1180=) | |
| 1 | g.197090906G>A | CA344002565 | ASPM | n.2867C>T c.9580C>T (p.His3194Tyr) c.9802C>T (p.His3268Tyr) c.9556C>T (p.His3186Tyr) c.4825C>T (p.His1609Tyr) c.2575C>T (p.His859Tyr) c.3538C>T (p.His1180Tyr) | |
| 1 | g.197090906G>C | CA344002566 | ASPM | n.2867C>G c.9580C>G (p.His3194Asp) c.9802C>G (p.His3268Asp) c.9556C>G (p.His3186Asp) c.4825C>G (p.His1609Asp) c.2575C>G (p.His859Asp) c.3538C>G (p.His1180Asp) | |
| 1 | g.197090906G>T | CA344002568 | ASPM | n.2867C>A c.9580C>A (p.His3194Asn) c.9802C>A (p.His3268Asn) c.9556C>A (p.His3186Asn) c.4825C>A (p.His1609Asn) c.2575C>A (p.His859Asn) c.3538C>A (p.His1180Asn) | gnomAD v4 |
| 1 | g.197090907G>A | CA422672423 | ASPM | n.2866C>T c.9579C>T (p.Arg3193=) c.9801C>T (p.Arg3267=) c.9555C>T (p.Arg3185=) c.4824C>T (p.Arg1608=) c.2574C>T (p.Arg858=) c.3537C>T (p.Arg1179=) | ClinVar dbSNP COSMIC |
| 1 | g.197090907G>C | CA422672424 | ASPM | n.2866C>G c.9579C>G (p.Arg3193=) c.9801C>G (p.Arg3267=) c.9555C>G (p.Arg3185=) c.4824C>G (p.Arg1608=) c.2574C>G (p.Arg858=) c.3537C>G (p.Arg1179=) | |
| 1 | g.197090907G= | CA1217925723 | ASPM | n.2866C= c.9579C= (p.Arg3193=) c.9801C= (p.Arg3267=) c.9555C= (p.Arg3185=) c.4824C= (p.Arg1608=) c.2574C= (p.Arg858=) c.3537C= (p.Arg1179=) | |
| 1 | g.197090907G>T | CA422672425 | ASPM | n.2866C>A c.9579C>A (p.Arg3193=) c.9801C>A (p.Arg3267=) c.9555C>A (p.Arg3185=) c.4824C>A (p.Arg1608=) c.2574C>A (p.Arg858=) c.3537C>A (p.Arg1179=) | |
| 1 | g.197090908C>A | CA344002571 | ASPM | n.2865G>T c.9578G>T (p.Arg3193Leu) c.9800G>T (p.Arg3267Leu) c.9554G>T (p.Arg3185Leu) c.4823G>T (p.Arg1608Leu) c.2573G>T (p.Arg858Leu) c.3536G>T (p.Arg1179Leu) | |
| 1 | g.197090908C= | CA1143927705 | ASPM | n.2865G= c.9578G= (p.Arg3193=) c.9800G= (p.Arg3267=) c.9554G= (p.Arg3185=) c.4823G= (p.Arg1608=) c.2573G= (p.Arg858=) c.3536G= (p.Arg1179=) | |
| 1 | g.197090908C>G | CA344002575 | ASPM | n.2865G>C c.9578G>C (p.Arg3193Pro) c.9800G>C (p.Arg3267Pro) c.9554G>C (p.Arg3185Pro) c.4823G>C (p.Arg1608Pro) c.2573G>C (p.Arg858Pro) c.3536G>C (p.Arg1179Pro) | |
| 1 | g.197090908C>T | CA1308919 | ASPM | n.2865G>A c.9578G>A (p.Arg3193His) c.9800G>A (p.Arg3267His) c.9554G>A (p.Arg3185His) c.4823G>A (p.Arg1608His) c.2573G>A (p.Arg858His) c.3536G>A (p.Arg1179His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090909G>A | CA271153 | ASPM | n.2864C>T c.9577C>T (p.Arg3193Cys) c.9799C>T (p.Arg3267Cys) c.9553C>T (p.Arg3185Cys) c.4822C>T (p.Arg1608Cys) c.2572C>T (p.Arg858Cys) c.3535C>T (p.Arg1179Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197090909G>C | CA344002584 | ASPM | n.2864C>G c.9577C>G (p.Arg3193Gly) c.9799C>G (p.Arg3267Gly) c.9553C>G (p.Arg3185Gly) c.4822C>G (p.Arg1608Gly) c.2572C>G (p.Arg858Gly) c.3535C>G (p.Arg1179Gly) | |
| 1 | g.197090909G= | CA1141757864 | ASPM | n.2864C= c.9577C= (p.Arg3193=) c.9799C= (p.Arg3267=) c.9553C= (p.Arg3185=) c.4822C= (p.Arg1608=) c.2572C= (p.Arg858=) c.3535C= (p.Arg1179=) | |
| 1 | g.197090909G>T | CA344002586 | ASPM | n.2864C>A c.9577C>A (p.Arg3193Ser) c.9799C>A (p.Arg3267Ser) c.9553C>A (p.Arg3185Ser) c.4822C>A (p.Arg1608Ser) c.2572C>A (p.Arg858Ser) c.3535C>A (p.Arg1179Ser) | |
| 1 | g.197090910C>A | CA422672426 | ASPM | n.2863G>T c.9576G>T (p.Val3192=) c.9798G>T (p.Val3266=) c.9552G>T (p.Val3184=) c.4821G>T (p.Val1607=) c.2571G>T (p.Val857=) c.3534G>T (p.Val1178=) | |
| 1 | g.197090910C>G | CA422672427 | ASPM | n.2863G>C c.9576G>C (p.Val3192=) c.9798G>C (p.Val3266=) c.9552G>C (p.Val3184=) c.4821G>C (p.Val1607=) c.2571G>C (p.Val857=) c.3534G>C (p.Val1178=) | |
| 1 | g.197090910C>T | CA422672428 | ASPM | n.2863G>A c.9576G>A (p.Val3192=) c.9798G>A (p.Val3266=) c.9552G>A (p.Val3184=) c.4821G>A (p.Val1607=) c.2571G>A (p.Val857=) c.3534G>A (p.Val1178=) | |
| 1 | g.197090911A>C | CA344002597 | ASPM | n.2862T>G c.9575T>G (p.Val3192Gly) c.9797T>G (p.Val3266Gly) c.9551T>G (p.Val3184Gly) c.4820T>G (p.Val1607Gly) c.2570T>G (p.Val857Gly) c.3533T>G (p.Val1178Gly) | |
| 1 | g.197090911A>G | CA344002600 | ASPM | n.2862T>C c.9575T>C (p.Val3192Ala) c.9797T>C (p.Val3266Ala) c.9551T>C (p.Val3184Ala) c.4820T>C (p.Val1607Ala) c.2570T>C (p.Val857Ala) c.3533T>C (p.Val1178Ala) | gnomAD v4 |
| 1 | g.197090911A>T | CA344002602 | ASPM | n.2862T>A c.9575T>A (p.Val3192Glu) c.9797T>A (p.Val3266Glu) c.9551T>A (p.Val3184Glu) c.4820T>A (p.Val1607Glu) c.2570T>A (p.Val857Glu) c.3533T>A (p.Val1178Glu) | |
| 1 | g.197090912C>A | CA344002605 | ASPM | n.2861G>T c.9574G>T (p.Val3192Leu) c.9796G>T (p.Val3266Leu) c.9550G>T (p.Val3184Leu) c.4819G>T (p.Val1607Leu) c.2569G>T (p.Val857Leu) c.3532G>T (p.Val1178Leu) | |
| 1 | g.197090912C>G | CA344002606 | ASPM | n.2861G>C c.9574G>C (p.Val3192Leu) c.9796G>C (p.Val3266Leu) c.9550G>C (p.Val3184Leu) c.4819G>C (p.Val1607Leu) c.2569G>C (p.Val857Leu) c.3532G>C (p.Val1178Leu) | |
| 1 | g.197090912C>T | CA344002607 | ASPM | n.2861G>A c.9574G>A (p.Val3192Met) c.9796G>A (p.Val3266Met) c.9550G>A (p.Val3184Met) c.4819G>A (p.Val1607Met) c.2569G>A (p.Val857Met) c.3532G>A (p.Val1178Met) | |
| 1 | g.197090913T>A | CA422672429 | ASPM | n.2860A>T c.9573A>T (p.Ala3191=) c.9795A>T (p.Ala3265=) c.9549A>T (p.Ala3183=) c.4818A>T (p.Ala1606=) c.2568A>T (p.Ala856=) c.3531A>T (p.Ala1177=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090913T>C | CA10606467 | ASPM | n.2860A>G c.9573A>G (p.Ala3191=) c.9795A>G (p.Ala3265=) c.9549A>G (p.Ala3183=) c.4818A>G (p.Ala1606=) c.2568A>G (p.Ala856=) c.3531A>G (p.Ala1177=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197090913T>G | CA422672430 | ASPM | n.2860A>C c.9573A>C (p.Ala3191=) c.9795A>C (p.Ala3265=) c.9549A>C (p.Ala3183=) c.4818A>C (p.Ala1606=) c.2568A>C (p.Ala856=) c.3531A>C (p.Ala1177=) | |
| 1 | g.197090913T= | CA1217925736 | ASPM | n.2860A= c.9573A= (p.Ala3191=) c.9795A= (p.Ala3265=) c.9549A= (p.Ala3183=) c.4818A= (p.Ala1606=) c.2568A= (p.Ala856=) c.3531A= (p.Ala1177=) | |
| 1 | g.197090914G>A | CA344002608 | ASPM | n.2859C>T c.9572C>T (p.Ala3191Val) c.9794C>T (p.Ala3265Val) c.9548C>T (p.Ala3183Val) c.4817C>T (p.Ala1606Val) c.2567C>T (p.Ala856Val) c.3530C>T (p.Ala1177Val) | |
| 1 | g.197090914G>C | CA344002609 | ASPM | n.2859C>G c.9572C>G (p.Ala3191Gly) c.9794C>G (p.Ala3265Gly) c.9548C>G (p.Ala3183Gly) c.4817C>G (p.Ala1606Gly) c.2567C>G (p.Ala856Gly) c.3530C>G (p.Ala1177Gly) | |
| 1 | g.197090914G>T | CA344002610 | ASPM | n.2859C>A c.9572C>A (p.Ala3191Glu) c.9794C>A (p.Ala3265Glu) c.9548C>A (p.Ala3183Glu) c.4817C>A (p.Ala1606Glu) c.2567C>A (p.Ala856Glu) c.3530C>A (p.Ala1177Glu) | |
| 1 | g.197090915C>A | CA344002611 | ASPM | n.2858G>T c.9571G>T (p.Ala3191Ser) c.9793G>T (p.Ala3265Ser) c.9547G>T (p.Ala3183Ser) c.4816G>T (p.Ala1606Ser) c.2566G>T (p.Ala856Ser) c.3529G>T (p.Ala1177Ser) | |
| 1 | g.197090915C= | CA1217925740 | ASPM | n.2858G= c.9571G= (p.Ala3191=) c.9793G= (p.Ala3265=) c.9547G= (p.Ala3183=) c.4816G= (p.Ala1606=) c.2566G= (p.Ala856=) c.3529G= (p.Ala1177=) | |
| 1 | g.197090915C>G | CA344002612 | ASPM | n.2858G>C c.9571G>C (p.Ala3191Pro) c.9793G>C (p.Ala3265Pro) c.9547G>C (p.Ala3183Pro) c.4816G>C (p.Ala1606Pro) c.2566G>C (p.Ala856Pro) c.3529G>C (p.Ala1177Pro) | |
| 1 | g.197090915C>T | CA1308920 | ASPM | n.2858G>A c.9571G>A (p.Ala3191Thr) c.9793G>A (p.Ala3265Thr) c.9547G>A (p.Ala3183Thr) c.4816G>A (p.Ala1606Thr) c.2566G>A (p.Ala856Thr) c.3529G>A (p.Ala1177Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090916T>A | CA344002615 | ASPM | n.2857A>T c.9570A>T (p.Lys3190Asn) c.9792A>T (p.Lys3264Asn) c.9546A>T (p.Lys3182Asn) c.4815A>T (p.Lys1605Asn) c.2565A>T (p.Lys855Asn) c.3528A>T (p.Lys1176Asn) | |
| 1 | g.197090916T>C | CA422672431 | ASPM | n.2857A>G c.9570A>G (p.Lys3190=) c.9792A>G (p.Lys3264=) c.9546A>G (p.Lys3182=) c.4815A>G (p.Lys1605=) c.2565A>G (p.Lys855=) c.3528A>G (p.Lys1176=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090916T>G | CA344002617 | ASPM | n.2857A>C c.9570A>C (p.Lys3190Asn) c.9792A>C (p.Lys3264Asn) c.9546A>C (p.Lys3182Asn) c.4815A>C (p.Lys1605Asn) c.2565A>C (p.Lys855Asn) c.3528A>C (p.Lys1176Asn) | gnomAD v4 |
| 1 | g.197090916T= | CA1217925744 | ASPM | n.2857A= c.9570A= (p.Lys3190=) c.9792A= (p.Lys3264=) c.9546A= (p.Lys3182=) c.4815A= (p.Lys1605=) c.2565A= (p.Lys855=) c.3528A= (p.Lys1176=) | |
| 1 | g.197090917T>A | CA344002619 | ASPM | n.2856A>T c.9569A>T (p.Lys3190Ile) c.9791A>T (p.Lys3264Ile) c.9545A>T (p.Lys3182Ile) c.4814A>T (p.Lys1605Ile) c.2564A>T (p.Lys855Ile) c.3527A>T (p.Lys1176Ile) | |
| 1 | g.197090917T>C | CA344002621 | ASPM | n.2856A>G c.9569A>G (p.Lys3190Arg) c.9791A>G (p.Lys3264Arg) c.9545A>G (p.Lys3182Arg) c.4814A>G (p.Lys1605Arg) c.2564A>G (p.Lys855Arg) c.3527A>G (p.Lys1176Arg) | |
| 1 | g.197090917T>G | CA1308921 | ASPM | n.2856A>C c.9569A>C (p.Lys3190Thr) c.9791A>C (p.Lys3264Thr) c.9545A>C (p.Lys3182Thr) c.4814A>C (p.Lys1605Thr) c.2564A>C (p.Lys855Thr) c.3527A>C (p.Lys1176Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090917T= | CA1217925752 | ASPM | n.2856A= c.9569A= (p.Lys3190=) c.9791A= (p.Lys3264=) c.9545A= (p.Lys3182=) c.4814A= (p.Lys1605=) c.2564A= (p.Lys855=) c.3527A= (p.Lys1176=) | |
| 1 | g.197090918T>A | CA344002625 | ASPM | n.2855A>T c.9568A>T (p.Lys3190Ter) c.9790A>T (p.Lys3264Ter) c.9544A>T (p.Lys3182Ter) c.4813A>T (p.Lys1605Ter) c.2563A>T (p.Lys855Ter) c.3526A>T (p.Lys1176Ter) | |
| 1 | g.197090918T>C | CA344002627 | ASPM | n.2855A>G c.9568A>G (p.Lys3190Glu) c.9790A>G (p.Lys3264Glu) c.9544A>G (p.Lys3182Glu) c.4813A>G (p.Lys1605Glu) c.2563A>G (p.Lys855Glu) c.3526A>G (p.Lys1176Glu) | dbSNP gnomAD v4 |
| 1 | g.197090918T>G | CA344002628 | ASPM | n.2855A>C c.9568A>C (p.Lys3190Gln) c.9790A>C (p.Lys3264Gln) c.9544A>C (p.Lys3182Gln) c.4813A>C (p.Lys1605Gln) c.2563A>C (p.Lys855Gln) c.3526A>C (p.Lys1176Gln) | |
| 1 | g.197090918T= | CA1217925756 | ASPM | n.2855A= c.9568A= (p.Lys3190=) c.9790A= (p.Lys3264=) c.9544A= (p.Lys3182=) c.4813A= (p.Lys1605=) c.2563A= (p.Lys855=) c.3526A= (p.Lys1176=) | |
| 1 | g.197090919C>A | CA344002630 | ASPM | n.2854G>T c.9567G>T (p.Gln3189His) c.9789G>T (p.Gln3263His) c.9543G>T (p.Gln3181His) c.4812G>T (p.Gln1604His) c.2562G>T (p.Gln854His) c.3525G>T (p.Gln1175His) | |
| 1 | g.197090919C= | CA1217925758 | ASPM | n.2854G= c.9567G= (p.Gln3189=) c.9789G= (p.Gln3263=) c.9543G= (p.Gln3181=) c.4812G= (p.Gln1604=) c.2562G= (p.Gln854=) c.3525G= (p.Gln1175=) | |
| 1 | g.197090919C>G | CA344002631 | ASPM | n.2854G>C c.9567G>C (p.Gln3189His) c.9789G>C (p.Gln3263His) c.9543G>C (p.Gln3181His) c.4812G>C (p.Gln1604His) c.2562G>C (p.Gln854His) c.3525G>C (p.Gln1175His) | |
| 1 | g.197090919C>T | CA422672432 | ASPM | n.2854G>A c.9567G>A (p.Gln3189=) c.9789G>A (p.Gln3263=) c.9543G>A (p.Gln3181=) c.4812G>A (p.Gln1604=) c.2562G>A (p.Gln854=) c.3525G>A (p.Gln1175=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090920T>A | CA344002637 | ASPM | n.2853A>T c.9566A>T (p.Gln3189Leu) c.9788A>T (p.Gln3263Leu) c.9542A>T (p.Gln3181Leu) c.4811A>T (p.Gln1604Leu) c.2561A>T (p.Gln854Leu) c.3524A>T (p.Gln1175Leu) | |
| 1 | g.197090920T>C | CA344002638 | ASPM | n.2853A>G c.9566A>G (p.Gln3189Arg) c.9788A>G (p.Gln3263Arg) c.9542A>G (p.Gln3181Arg) c.4811A>G (p.Gln1604Arg) c.2561A>G (p.Gln854Arg) c.3524A>G (p.Gln1175Arg) | |
| 1 | g.197090920T>G | CA344002634 | ASPM | n.2853A>C c.9566A>C (p.Gln3189Pro) c.9788A>C (p.Gln3263Pro) c.9542A>C (p.Gln3181Pro) c.4811A>C (p.Gln1604Pro) c.2561A>C (p.Gln854Pro) c.3524A>C (p.Gln1175Pro) | |
| 1 | g.197090921G>A | CA344002644 | ASPM | n.2852C>T c.9565C>T (p.Gln3189Ter) c.9787C>T (p.Gln3263Ter) c.9541C>T (p.Gln3181Ter) c.4810C>T (p.Gln1604Ter) c.2560C>T (p.Gln854Ter) c.3523C>T (p.Gln1175Ter) | |
| 1 | g.197090921G>C | CA1308922 | ASPM | n.2852C>G c.9565C>G (p.Gln3189Glu) c.9787C>G (p.Gln3263Glu) c.9541C>G (p.Gln3181Glu) c.4810C>G (p.Gln1604Glu) c.2560C>G (p.Gln854Glu) c.3523C>G (p.Gln1175Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090921G= | CA1217925762 | ASPM | n.2852C= c.9565C= (p.Gln3189=) c.9787C= (p.Gln3263=) c.9541C= (p.Gln3181=) c.4810C= (p.Gln1604=) c.2560C= (p.Gln854=) c.3523C= (p.Gln1175=) | |
| 1 | g.197090921G>T | CA344002646 | ASPM | n.2852C>A c.9565C>A (p.Gln3189Lys) c.9787C>A (p.Gln3263Lys) c.9541C>A (p.Gln3181Lys) c.4810C>A (p.Gln1604Lys) c.2560C>A (p.Gln854Lys) c.3523C>A (p.Gln1175Lys) | |
| 1 | g.197090922T>A | CA422672435 | ASPM | n.2851A>T c.9564A>T (p.Ile3188=) c.9786A>T (p.Ile3262=) c.9540A>T (p.Ile3180=) c.4809A>T (p.Ile1603=) c.2559A>T (p.Ile853=) c.3522A>T (p.Ile1174=) | |
| 1 | g.197090922T>C | CA1308923 | ASPM | n.2851A>G c.9564A>G (p.Ile3188Met) c.9786A>G (p.Ile3262Met) c.9540A>G (p.Ile3180Met) c.4809A>G (p.Ile1603Met) c.2559A>G (p.Ile853Met) c.3522A>G (p.Ile1174Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090922T>G | CA422672434 | ASPM | n.2851A>C c.9564A>C (p.Ile3188=) c.9786A>C (p.Ile3262=) c.9540A>C (p.Ile3180=) c.4809A>C (p.Ile1603=) c.2559A>C (p.Ile853=) c.3522A>C (p.Ile1174=) | |
| 1 | g.197090922T= | CA1141629742 | ASPM | n.2851A= c.9564A= (p.Ile3188=) c.9786A= (p.Ile3262=) c.9540A= (p.Ile3180=) c.4809A= (p.Ile1603=) c.2559A= (p.Ile853=) c.3522A= (p.Ile1174=) | |
| 1 | g.197090923A>C | CA344002649 | ASPM | n.2850T>G c.9563T>G (p.Ile3188Arg) c.9785T>G (p.Ile3262Arg) c.9539T>G (p.Ile3180Arg) c.4808T>G (p.Ile1603Arg) c.2558T>G (p.Ile853Arg) c.3521T>G (p.Ile1174Arg) | |
| 1 | g.197090923A>G | CA344002657 | ASPM | n.2850T>C c.9563T>C (p.Ile3188Thr) c.9785T>C (p.Ile3262Thr) c.9539T>C (p.Ile3180Thr) c.4808T>C (p.Ile1603Thr) c.2558T>C (p.Ile853Thr) c.3521T>C (p.Ile1174Thr) | gnomAD v4 |
| 1 | g.197090923A>T | CA344002658 | ASPM | n.2850T>A c.9563T>A (p.Ile3188Lys) c.9785T>A (p.Ile3262Lys) c.9539T>A (p.Ile3180Lys) c.4808T>A (p.Ile1603Lys) c.2558T>A (p.Ile853Lys) c.3521T>A (p.Ile1174Lys) | |
| 1 | g.197090924T>A | CA344002662 | ASPM | n.2849A>T c.9562A>T (p.Ile3188Leu) c.9784A>T (p.Ile3262Leu) c.9538A>T (p.Ile3180Leu) c.4807A>T (p.Ile1603Leu) c.2557A>T (p.Ile853Leu) c.3520A>T (p.Ile1174Leu) | |
| 1 | g.197090924T>C | CA344002665 | ASPM | n.2849A>G c.9562A>G (p.Ile3188Val) c.9784A>G (p.Ile3262Val) c.9538A>G (p.Ile3180Val) c.4807A>G (p.Ile1603Val) c.2557A>G (p.Ile853Val) c.3520A>G (p.Ile1174Val) | dbSNP gnomAD v4 |
| 1 | g.197090924T>G | CA344002666 | ASPM | n.2849A>C c.9562A>C (p.Ile3188Leu) c.9784A>C (p.Ile3262Leu) c.9538A>C (p.Ile3180Leu) c.4807A>C (p.Ile1603Leu) c.2557A>C (p.Ile853Leu) c.3520A>C (p.Ile1174Leu) | |
| 1 | g.197090924T= | CA1217925767 | ASPM | n.2849A= c.9562A= (p.Ile3188=) c.9784A= (p.Ile3262=) c.9538A= (p.Ile3180=) c.4807A= (p.Ile1603=) c.2557A= (p.Ile853=) c.3520A= (p.Ile1174=) | |
| 1 | g.197090925T>A | CA422672436 | ASPM | n.2848A>T c.9561A>T (p.Val3187=) c.9783A>T (p.Val3261=) c.9537A>T (p.Val3179=) c.4806A>T (p.Val1602=) c.2556A>T (p.Val852=) c.3519A>T (p.Val1173=) | |
| 1 | g.197090925T>C | CA422672438 | ASPM | n.2848A>G c.9561A>G (p.Val3187=) c.9783A>G (p.Val3261=) c.9537A>G (p.Val3179=) c.4806A>G (p.Val1602=) c.2556A>G (p.Val852=) c.3519A>G (p.Val1173=) | dbSNP |
| 1 | g.197090925T>G | CA422672437 | ASPM | n.2848A>C c.9561A>C (p.Val3187=) c.9783A>C (p.Val3261=) c.9537A>C (p.Val3179=) c.4806A>C (p.Val1602=) c.2556A>C (p.Val852=) c.3519A>C (p.Val1173=) | |
| 1 | g.197090925T= | CA1217925770 | ASPM | n.2848A= c.9561A= (p.Val3187=) c.9783A= (p.Val3261=) c.9537A= (p.Val3179=) c.4806A= (p.Val1602=) c.2556A= (p.Val852=) c.3519A= (p.Val1173=) | |
| 1 | g.197090926A>C | CA344002667 | ASPM | n.2847T>G c.9560T>G (p.Val3187Gly) c.9782T>G (p.Val3261Gly) c.9536T>G (p.Val3179Gly) c.4805T>G (p.Val1602Gly) c.2555T>G (p.Val852Gly) c.3518T>G (p.Val1173Gly) | |
| 1 | g.197090926A>G | CA344002671 | ASPM | n.2847T>C c.9560T>C (p.Val3187Ala) c.9782T>C (p.Val3261Ala) c.9536T>C (p.Val3179Ala) c.4805T>C (p.Val1602Ala) c.2555T>C (p.Val852Ala) c.3518T>C (p.Val1173Ala) | |
| 1 | g.197090926A>T | CA344002673 | ASPM | n.2847T>A c.9560T>A (p.Val3187Glu) c.9782T>A (p.Val3261Glu) c.9536T>A (p.Val3179Glu) c.4805T>A (p.Val1602Glu) c.2555T>A (p.Val852Glu) c.3518T>A (p.Val1173Glu) | |
| 1 | g.197090927C>A | CA344002677 | ASPM | n.2846G>T c.9559G>T (p.Val3187Leu) c.9781G>T (p.Val3261Leu) c.9535G>T (p.Val3179Leu) c.4804G>T (p.Val1602Leu) c.2554G>T (p.Val852Leu) c.3517G>T (p.Val1173Leu) | |
| 1 | g.197090927C>G | CA344002683 | ASPM | n.2846G>C c.9559G>C (p.Val3187Leu) c.9781G>C (p.Val3261Leu) c.9535G>C (p.Val3179Leu) c.4804G>C (p.Val1602Leu) c.2554G>C (p.Val852Leu) c.3517G>C (p.Val1173Leu) | |
| 1 | g.197090927C>T | CA344002694 | ASPM | n.2846G>A c.9559G>A (p.Val3187Ile) c.9781G>A (p.Val3261Ile) c.9535G>A (p.Val3179Ile) c.4804G>A (p.Val1602Ile) c.2554G>A (p.Val852Ile) c.3517G>A (p.Val1173Ile) | |
| 1 | g.197090928T>A | CA422672439 | ASPM | n.2845A>T c.9558A>T (p.Ser3186=) c.9780A>T (p.Ser3260=) c.9534A>T (p.Ser3178=) c.4803A>T (p.Ser1601=) c.2553A>T (p.Ser851=) c.3516A>T (p.Ser1172=) | |
| 1 | g.197090928T>C | CA422672440 | ASPM | n.2845A>G c.9558A>G (p.Ser3186=) c.9780A>G (p.Ser3260=) c.9534A>G (p.Ser3178=) c.4803A>G (p.Ser1601=) c.2553A>G (p.Ser851=) c.3516A>G (p.Ser1172=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090928T>G | CA422672441 | ASPM | n.2845A>C c.9558A>C (p.Ser3186=) c.9780A>C (p.Ser3260=) c.9534A>C (p.Ser3178=) c.4803A>C (p.Ser1601=) c.2553A>C (p.Ser851=) c.3516A>C (p.Ser1172=) | |
| 1 | g.197090928T= | CA1217925774 | ASPM | n.2845A= c.9558A= (p.Ser3186=) c.9780A= (p.Ser3260=) c.9534A= (p.Ser3178=) c.4803A= (p.Ser1601=) c.2553A= (p.Ser851=) c.3516A= (p.Ser1172=) | |
| 1 | g.197090929G>A | CA344002697 | ASPM | n.2844C>T c.9557C>T (p.Ser3186Leu) c.9779C>T (p.Ser3260Leu) c.9533C>T (p.Ser3178Leu) c.4802C>T (p.Ser1601Leu) c.2552C>T (p.Ser851Leu) c.3515C>T (p.Ser1172Leu) | |
| 1 | g.197090929G>C | CA342300 | ASPM | n.2844C>G c.9557C>G (p.Ser3186Ter) c.9779C>G (p.Ser3260Ter) c.9533C>G (p.Ser3178Ter) c.4802C>G (p.Ser1601Ter) c.2552C>G (p.Ser851Ter) c.3515C>G (p.Ser1172Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090929G= | CA1143355790 | ASPM | n.2844C= c.9557C= (p.Ser3186=) c.9779C= (p.Ser3260=) c.9533C= (p.Ser3178=) c.4802C= (p.Ser1601=) c.2552C= (p.Ser851=) c.3515C= (p.Ser1172=) | |
| 1 | g.197090929G>T | CA344002698 | ASPM | n.2844C>A c.9557C>A (p.Ser3186Ter) c.9779C>A (p.Ser3260Ter) c.9533C>A (p.Ser3178Ter) c.4802C>A (p.Ser1601Ter) c.2552C>A (p.Ser851Ter) c.3515C>A (p.Ser1172Ter) | |
| 1 | g.197090930A>C | CA344002705 | ASPM | n.2843T>G c.9556T>G (p.Ser3186Ala) c.9778T>G (p.Ser3260Ala) c.9532T>G (p.Ser3178Ala) c.4801T>G (p.Ser1601Ala) c.2551T>G (p.Ser851Ala) c.3514T>G (p.Ser1172Ala) | |
| 1 | g.197090930A>G | CA344002707 | ASPM | n.2843T>C c.9556T>C (p.Ser3186Pro) c.9778T>C (p.Ser3260Pro) c.9532T>C (p.Ser3178Pro) c.4801T>C (p.Ser1601Pro) c.2551T>C (p.Ser851Pro) c.3514T>C (p.Ser1172Pro) | gnomAD v4 |
| 1 | g.197090930A>T | CA344002709 | ASPM | n.2843T>A c.9556T>A (p.Ser3186Thr) c.9778T>A (p.Ser3260Thr) c.9532T>A (p.Ser3178Thr) c.4801T>A (p.Ser1601Thr) c.2551T>A (p.Ser851Thr) c.3514T>A (p.Ser1172Thr) | |
| 1 | g.197090931T>A | CA422672442 | ASPM | n.2842A>T c.9555A>T (p.Ala3185=) c.9777A>T (p.Ala3259=) c.9531A>T (p.Ala3177=) c.4800A>T (p.Ala1600=) c.2550A>T (p.Ala850=) c.3513A>T (p.Ala1171=) | |
| 1 | g.197090931T>C | CA1308924 | ASPM | n.2842A>G c.9555A>G (p.Ala3185=) c.9777A>G (p.Ala3259=) c.9531A>G (p.Ala3177=) c.4800A>G (p.Ala1600=) c.2550A>G (p.Ala850=) c.3513A>G (p.Ala1171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090931T>G | CA422672443 | ASPM | n.2842A>C c.9555A>C (p.Ala3185=) c.9777A>C (p.Ala3259=) c.9531A>C (p.Ala3177=) c.4800A>C (p.Ala1600=) c.2550A>C (p.Ala850=) c.3513A>C (p.Ala1171=) | |
| 1 | g.197090931T= | CA1143531804 | ASPM | n.2842A= c.9555A= (p.Ala3185=) c.9777A= (p.Ala3259=) c.9531A= (p.Ala3177=) c.4800A= (p.Ala1600=) c.2550A= (p.Ala850=) c.3513A= (p.Ala1171=) | |
| 1 | g.197090932G>A | CA344002715 | ASPM | n.2841C>T c.9554C>T (p.Ala3185Val) c.9776C>T (p.Ala3259Val) c.9530C>T (p.Ala3177Val) c.4799C>T (p.Ala1600Val) c.2549C>T (p.Ala850Val) c.3512C>T (p.Ala1171Val) | |
| 1 | g.197090932G>C | CA344002718 | ASPM | n.2841C>G c.9554C>G (p.Ala3185Gly) c.9776C>G (p.Ala3259Gly) c.9530C>G (p.Ala3177Gly) c.4799C>G (p.Ala1600Gly) c.2549C>G (p.Ala850Gly) c.3512C>G (p.Ala1171Gly) | gnomAD v4 |
| 1 | g.197090932G>T | CA344002724 | ASPM | n.2841C>A c.9554C>A (p.Ala3185Glu) c.9776C>A (p.Ala3259Glu) c.9530C>A (p.Ala3177Glu) c.4799C>A (p.Ala1600Glu) c.2549C>A (p.Ala850Glu) c.3512C>A (p.Ala1171Glu) | |
| 1 | g.197090933C>A | CA344002727 | ASPM | n.2840G>T c.9553G>T (p.Ala3185Ser) c.9775G>T (p.Ala3259Ser) c.9529G>T (p.Ala3177Ser) c.4798G>T (p.Ala1600Ser) c.2548G>T (p.Ala850Ser) c.3511G>T (p.Ala1171Ser) | |
| 1 | g.197090933C= | CA1144096803 | ASPM | n.2840G= c.9553G= (p.Ala3185=) c.9775G= (p.Ala3259=) c.9529G= (p.Ala3177=) c.4798G= (p.Ala1600=) c.2548G= (p.Ala850=) c.3511G= (p.Ala1171=) | |
| 1 | g.197090933C>G | CA1308925 | ASPM | n.2840G>C c.9553G>C (p.Ala3185Pro) c.9775G>C (p.Ala3259Pro) c.9529G>C (p.Ala3177Pro) c.4798G>C (p.Ala1600Pro) c.2548G>C (p.Ala850Pro) c.3511G>C (p.Ala1171Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090933C>T | CA344002734 | ASPM | n.2840G>A c.9553G>A (p.Ala3185Thr) c.9775G>A (p.Ala3259Thr) c.9529G>A (p.Ala3177Thr) c.4798G>A (p.Ala1600Thr) c.2548G>A (p.Ala850Thr) c.3511G>A (p.Ala1171Thr) | dbSNP gnomAD v2 |
| 1 | g.197090934A>C | CA422672444 | ASPM | n.2839T>G c.9552T>G (p.Ala3184=) c.9774T>G (p.Ala3258=) c.9528T>G (p.Ala3176=) c.4797T>G (p.Ala1599=) c.2547T>G (p.Ala849=) c.3510T>G (p.Ala1170=) | |
| 1 | g.197090934A>G | CA422672445 | ASPM | n.2839T>C c.9552T>C (p.Ala3184=) c.9774T>C (p.Ala3258=) c.9528T>C (p.Ala3176=) c.4797T>C (p.Ala1599=) c.2547T>C (p.Ala849=) c.3510T>C (p.Ala1170=) | |
| 1 | g.197090934A>T | CA422672446 | ASPM | n.2839T>A c.9552T>A (p.Ala3184=) c.9774T>A (p.Ala3258=) c.9528T>A (p.Ala3176=) c.4797T>A (p.Ala1599=) c.2547T>A (p.Ala849=) c.3510T>A (p.Ala1170=) | |
| 1 | g.197090935G>A | CA344002743 | ASPM | n.2838C>T c.9551C>T (p.Ala3184Val) c.9773C>T (p.Ala3258Val) c.9527C>T (p.Ala3176Val) c.4796C>T (p.Ala1599Val) c.2546C>T (p.Ala849Val) c.3509C>T (p.Ala1170Val) | gnomAD v4 |
| 1 | g.197090935G>C | CA344002742 | ASPM | n.2838C>G c.9551C>G (p.Ala3184Gly) c.9773C>G (p.Ala3258Gly) c.9527C>G (p.Ala3176Gly) c.4796C>G (p.Ala1599Gly) c.2546C>G (p.Ala849Gly) c.3509C>G (p.Ala1170Gly) | |
| 1 | g.197090935G>T | CA344002739 | ASPM | n.2838C>A c.9551C>A (p.Ala3184Asp) c.9773C>A (p.Ala3258Asp) c.9527C>A (p.Ala3176Asp) c.4796C>A (p.Ala1599Asp) c.2546C>A (p.Ala849Asp) c.3509C>A (p.Ala1170Asp) | |
| 1 | g.197090937_197090946del | CA2649660858 | ASPM | n.2829_2838del c.9542_9551del (p.Arg3181LeufsTer4) c.9764_9773del (p.Arg3255LeufsTer4) c.9518_9527del (p.Arg3173LeufsTer4) c.4787_4796del (p.Arg1596LeufsTer4) c.2537_2546del (p.Arg846LeufsTer4) c.3500_3509del (p.Arg1167LeufsTer4) | gnomAD v4 |
| 1 | g.197090936C>A | CA344002744 | ASPM | n.2837G>T c.9550G>T (p.Ala3184Ser) c.9772G>T (p.Ala3258Ser) c.9526G>T (p.Ala3176Ser) c.4795G>T (p.Ala1599Ser) c.2545G>T (p.Ala849Ser) c.3508G>T (p.Ala1170Ser) | |
| 1 | g.197090936C>G | CA344002747 | ASPM | n.2837G>C c.9550G>C (p.Ala3184Pro) c.9772G>C (p.Ala3258Pro) c.9526G>C (p.Ala3176Pro) c.4795G>C (p.Ala1599Pro) c.2545G>C (p.Ala849Pro) c.3508G>C (p.Ala1170Pro) | |
| 1 | g.197090936C>T | CA344002749 | ASPM | n.2837G>A c.9550G>A (p.Ala3184Thr) c.9772G>A (p.Ala3258Thr) c.9526G>A (p.Ala3176Thr) c.4795G>A (p.Ala1599Thr) c.2545G>A (p.Ala849Thr) c.3508G>A (p.Ala1170Thr) | |
| 1 | g.197090937C>A | CA344002752 | ASPM | n.2836G>T c.9549G>T (p.Arg3183Ser) c.9771G>T (p.Arg3257Ser) c.9525G>T (p.Arg3175Ser) c.4794G>T (p.Arg1598Ser) c.2544G>T (p.Arg848Ser) c.3507G>T (p.Arg1169Ser) | gnomAD v4 |
| 1 | g.197090937C>G | CA344002755 | ASPM | n.2836G>C c.9549G>C (p.Arg3183Ser) c.9771G>C (p.Arg3257Ser) c.9525G>C (p.Arg3175Ser) c.4794G>C (p.Arg1598Ser) c.2544G>C (p.Arg848Ser) c.3507G>C (p.Arg1169Ser) | COSMIC |
| 1 | g.197090937C>T | CA422672447 | ASPM | n.2836G>A c.9549G>A (p.Arg3183=) c.9771G>A (p.Arg3257=) c.9525G>A (p.Arg3175=) c.4794G>A (p.Arg1598=) c.2544G>A (p.Arg848=) c.3507G>A (p.Arg1169=) | |
| 1 | g.197090938C>A | CA344002758 | ASPM | n.2835G>T c.9548G>T (p.Arg3183Met) c.9770G>T (p.Arg3257Met) c.9524G>T (p.Arg3175Met) c.4793G>T (p.Arg1598Met) c.2543G>T (p.Arg848Met) c.3506G>T (p.Arg1169Met) | |
| 1 | g.197090938C>G | CA344002763 | ASPM | n.2835G>C c.9548G>C (p.Arg3183Thr) c.9770G>C (p.Arg3257Thr) c.9524G>C (p.Arg3175Thr) c.4793G>C (p.Arg1598Thr) c.2543G>C (p.Arg848Thr) c.3506G>C (p.Arg1169Thr) | |
| 1 | g.197090938C>T | CA344002766 | ASPM | n.2835G>A c.9548G>A (p.Arg3183Lys) c.9770G>A (p.Arg3257Lys) c.9524G>A (p.Arg3175Lys) c.4793G>A (p.Arg1598Lys) c.2543G>A (p.Arg848Lys) c.3506G>A (p.Arg1169Lys) | |
| 1 | g.197090939T>A | CA344002771 | ASPM | n.2834A>T c.9547A>T (p.Arg3183Trp) c.9769A>T (p.Arg3257Trp) c.9523A>T (p.Arg3175Trp) c.4792A>T (p.Arg1598Trp) c.2542A>T (p.Arg848Trp) c.3505A>T (p.Arg1169Trp) | |
| 1 | g.197090939T>C | CA344002783 | ASPM | n.2834A>G c.9547A>G (p.Arg3183Gly) c.9769A>G (p.Arg3257Gly) c.9523A>G (p.Arg3175Gly) c.4792A>G (p.Arg1598Gly) c.2542A>G (p.Arg848Gly) c.3505A>G (p.Arg1169Gly) | |
| 1 | g.197090939T>G | CA422672448 | ASPM | n.2834A>C c.9547A>C (p.Arg3183=) c.9769A>C (p.Arg3257=) c.9523A>C (p.Arg3175=) c.4792A>C (p.Arg1598=) c.2542A>C (p.Arg848=) c.3505A>C (p.Arg1169=) | |
| 1 | g.197090940A= | CA1141938379 | ASPM | n.2833T= c.9546T= (p.Asn3182=) c.9768T= (p.Asn3256=) c.9522T= (p.Asn3174=) c.4791T= (p.Asn1597=) c.2541T= (p.Asn847=) c.3504T= (p.Asn1168=) | |
| 1 | g.197090940A>C | CA344002789 | ASPM | n.2833T>G c.9546T>G (p.Asn3182Lys) c.9768T>G (p.Asn3256Lys) c.9522T>G (p.Asn3174Lys) c.4791T>G (p.Asn1597Lys) c.2541T>G (p.Asn847Lys) c.3504T>G (p.Asn1168Lys) | |
| 1 | g.197090940A>G | CA1308926 | ASPM | n.2833T>C c.9546T>C (p.Asn3182=) c.9768T>C (p.Asn3256=) c.9522T>C (p.Asn3174=) c.4791T>C (p.Asn1597=) c.2541T>C (p.Asn847=) c.3504T>C (p.Asn1168=) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.197090940A>T | CA344002801 | ASPM | n.2833T>A c.9546T>A (p.Asn3182Lys) c.9768T>A (p.Asn3256Lys) c.9522T>A (p.Asn3174Lys) c.4791T>A (p.Asn1597Lys) c.2541T>A (p.Asn847Lys) c.3504T>A (p.Asn1168Lys) | COSMIC |
| 1 | g.197090941T>A | CA344002814 | ASPM | n.2832A>T c.9545A>T (p.Asn3182Ile) c.9767A>T (p.Asn3256Ile) c.9521A>T (p.Asn3174Ile) c.4790A>T (p.Asn1597Ile) c.2540A>T (p.Asn847Ile) c.3503A>T (p.Asn1168Ile) | |
| 1 | g.197090941T>C | CA1308927 | ASPM | n.2832A>G c.9545A>G (p.Asn3182Ser) c.9767A>G (p.Asn3256Ser) c.9521A>G (p.Asn3174Ser) c.4790A>G (p.Asn1597Ser) c.2540A>G (p.Asn847Ser) c.3503A>G (p.Asn1168Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090941T>G | CA344002813 | ASPM | n.2832A>C c.9545A>C (p.Asn3182Thr) c.9767A>C (p.Asn3256Thr) c.9521A>C (p.Asn3174Thr) c.4790A>C (p.Asn1597Thr) c.2540A>C (p.Asn847Thr) c.3503A>C (p.Asn1168Thr) | |
| 1 | g.197090941T= | CA1217925790 | ASPM | n.2832A= c.9545A= (p.Asn3182=) c.9767A= (p.Asn3256=) c.9521A= (p.Asn3174=) c.4790A= (p.Asn1597=) c.2540A= (p.Asn847=) c.3503A= (p.Asn1168=) | |
| 1 | g.197090942T>A | CA344002815 | ASPM | n.2831A>T c.9544A>T (p.Asn3182Tyr) c.9766A>T (p.Asn3256Tyr) c.9520A>T (p.Asn3174Tyr) c.4789A>T (p.Asn1597Tyr) c.2539A>T (p.Asn847Tyr) c.3502A>T (p.Asn1168Tyr) | |
| 1 | g.197090942T>C | CA344002819 | ASPM | n.2831A>G c.9544A>G (p.Asn3182Asp) c.9766A>G (p.Asn3256Asp) c.9520A>G (p.Asn3174Asp) c.4789A>G (p.Asn1597Asp) c.2539A>G (p.Asn847Asp) c.3502A>G (p.Asn1168Asp) | |
| 1 | g.197090942T>G | CA344002823 | ASPM | n.2831A>C c.9544A>C (p.Asn3182His) c.9766A>C (p.Asn3256His) c.9520A>C (p.Asn3174His) c.4789A>C (p.Asn1597His) c.2539A>C (p.Asn847His) c.3502A>C (p.Asn1168His) | |
| 1 | g.197090943T>A | CA422672450 | ASPM | n.2830A>T c.9543A>T (p.Arg3181=) c.9765A>T (p.Arg3255=) c.9519A>T (p.Arg3173=) c.4788A>T (p.Arg1596=) c.2538A>T (p.Arg846=) c.3501A>T (p.Arg1167=) | |
| 1 | g.197090943T>C | CA422672452 | ASPM | n.2830A>G c.9543A>G (p.Arg3181=) c.9765A>G (p.Arg3255=) c.9519A>G (p.Arg3173=) c.4788A>G (p.Arg1596=) c.2538A>G (p.Arg846=) c.3501A>G (p.Arg1167=) | |
| 1 | g.197090943T>G | CA422672451 | ASPM | n.2830A>C c.9543A>C (p.Arg3181=) c.9765A>C (p.Arg3255=) c.9519A>C (p.Arg3173=) c.4788A>C (p.Arg1596=) c.2538A>C (p.Arg846=) c.3501A>C (p.Arg1167=) | |
| 1 | g.197090944C>A | CA344002832 | ASPM | n.2829G>T c.9542G>T (p.Arg3181Leu) c.9764G>T (p.Arg3255Leu) c.9518G>T (p.Arg3173Leu) c.4787G>T (p.Arg1596Leu) c.2537G>T (p.Arg846Leu) c.3500G>T (p.Arg1167Leu) | |
| 1 | g.197090944C= | CA1217925793 | ASPM | n.2829G= c.9542G= (p.Arg3181=) c.9764G= (p.Arg3255=) c.9518G= (p.Arg3173=) c.4787G= (p.Arg1596=) c.2537G= (p.Arg846=) c.3500G= (p.Arg1167=) | |
| 1 | g.197090944C>G | CA344002837 | ASPM | n.2829G>C c.9542G>C (p.Arg3181Pro) c.9764G>C (p.Arg3255Pro) c.9518G>C (p.Arg3173Pro) c.4787G>C (p.Arg1596Pro) c.2537G>C (p.Arg846Pro) c.3500G>C (p.Arg1167Pro) | |
| 1 | g.197090944C>T | CA344002845 | ASPM | n.2829G>A c.9542G>A (p.Arg3181Gln) c.9764G>A (p.Arg3255Gln) c.9518G>A (p.Arg3173Gln) c.4787G>A (p.Arg1596Gln) c.2537G>A (p.Arg846Gln) c.3500G>A (p.Arg1167Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090945G>A | CA1308928 | ASPM | n.2828C>T c.9541C>T (p.Arg3181Ter) c.9763C>T (p.Arg3255Ter) c.9517C>T (p.Arg3173Ter) c.4786C>T (p.Arg1596Ter) c.2536C>T (p.Arg846Ter) c.3499C>T (p.Arg1167Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.197090945G>C | CA344002847 | ASPM | n.2828C>G c.9541C>G (p.Arg3181Gly) c.9763C>G (p.Arg3255Gly) c.9517C>G (p.Arg3173Gly) c.4786C>G (p.Arg1596Gly) c.2536C>G (p.Arg846Gly) c.3499C>G (p.Arg1167Gly) | |
| 1 | g.197090945G= | CA1217925796 | ASPM | n.2828C= c.9541C= (p.Arg3181=) c.9763C= (p.Arg3255=) c.9517C= (p.Arg3173=) c.4786C= (p.Arg1596=) c.2536C= (p.Arg846=) c.3499C= (p.Arg1167=) | |
| 1 | g.197090945G>T | CA1308929 | ASPM | n.2828C>A c.9541C>A (p.Arg3181=) c.9763C>A (p.Arg3255=) c.9517C>A (p.Arg3173=) c.4786C>A (p.Arg1596=) c.2536C>A (p.Arg846=) c.3499C>A (p.Arg1167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090946C>A | CA344002854 | ASPM | n.2827G>T c.9540G>T (p.Gln3180His) c.9762G>T (p.Gln3254His) c.9516G>T (p.Gln3172His) c.4785G>T (p.Gln1595His) c.2535G>T (p.Gln845His) c.3498G>T (p.Gln1166His) | |
| 1 | g.197090946C= | CA1144450088 | ASPM | n.2827G= c.9540G= (p.Gln3180=) c.9762G= (p.Gln3254=) c.9516G= (p.Gln3172=) c.4785G= (p.Gln1595=) c.2535G= (p.Gln845=) c.3498G= (p.Gln1166=) | |
| 1 | g.197090946C>G | CA344002860 | ASPM | n.2827G>C c.9540G>C (p.Gln3180His) c.9762G>C (p.Gln3254His) c.9516G>C (p.Gln3172His) c.4785G>C (p.Gln1595His) c.2535G>C (p.Gln845His) c.3498G>C (p.Gln1166His) | |
| 1 | g.197090946C>T | CA1308930 | ASPM | n.2827G>A c.9540G>A (p.Gln3180=) c.9762G>A (p.Gln3254=) c.9516G>A (p.Gln3172=) c.4785G>A (p.Gln1595=) c.2535G>A (p.Gln845=) c.3498G>A (p.Gln1166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090946_197090947delinsTG | CA2573051449 | ASPM | n.2826_2827delinsCA c.9539_9540delinsCA (p.Gln3180Pro) c.9761_9762delinsCA (p.Gln3254Pro) c.9515_9516delinsCA (p.Gln3172Pro) c.4784_4785delinsCA (p.Gln1595Pro) c.2534_2535delinsCA (p.Gln845Pro) c.3497_3498delinsCA (p.Gln1166Pro) | ClinVar dbSNP |
| 1 | g.197090947T>A | CA344002869 | ASPM | n.2826A>T c.9539A>T (p.Gln3180Leu) c.9761A>T (p.Gln3254Leu) c.9515A>T (p.Gln3172Leu) c.4784A>T (p.Gln1595Leu) c.2534A>T (p.Gln845Leu) c.3497A>T (p.Gln1166Leu) | |
| 1 | g.197090947T>C | CA344002874 | ASPM | n.2826A>G c.9539A>G (p.Gln3180Arg) c.9761A>G (p.Gln3254Arg) c.9515A>G (p.Gln3172Arg) c.4784A>G (p.Gln1595Arg) c.2534A>G (p.Gln845Arg) c.3497A>G (p.Gln1166Arg) | |
| 1 | g.197090947T>G | CA233487 | ASPM | n.2826A>C c.9539A>C (p.Gln3180Pro) c.9761A>C (p.Gln3254Pro) c.9515A>C (p.Gln3172Pro) c.4784A>C (p.Gln1595Pro) c.2534A>C (p.Gln845Pro) c.3497A>C (p.Gln1166Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090947T= | CA1143351619 | ASPM | n.2826A= c.9539A= (p.Gln3180=) c.9761A= (p.Gln3254=) c.9515A= (p.Gln3172=) c.4784A= (p.Gln1595=) c.2534A= (p.Gln845=) c.3497A= (p.Gln1166=) | |
| 1 | g.197090948G>A | CA344002896 | ASPM | n.2825C>T c.9538C>T (p.Gln3180Ter) c.9760C>T (p.Gln3254Ter) c.9514C>T (p.Gln3172Ter) c.4783C>T (p.Gln1595Ter) c.2533C>T (p.Gln845Ter) c.3496C>T (p.Gln1166Ter) | |
| 1 | g.197090948G>C | CA344002890 | ASPM | n.2825C>G c.9538C>G (p.Gln3180Glu) c.9760C>G (p.Gln3254Glu) c.9514C>G (p.Gln3172Glu) c.4783C>G (p.Gln1595Glu) c.2533C>G (p.Gln845Glu) c.3496C>G (p.Gln1166Glu) | |
| 1 | g.197090948G>T | CA344002892 | ASPM | n.2825C>A c.9538C>A (p.Gln3180Lys) c.9760C>A (p.Gln3254Lys) c.9514C>A (p.Gln3172Lys) c.4783C>A (p.Gln1595Lys) c.2533C>A (p.Gln845Lys) c.3496C>A (p.Gln1166Lys) | |
| 1 | g.197090949G>A | CA422672454 | ASPM | n.2824C>T c.9537C>T (p.Ser3179=) c.9759C>T (p.Ser3253=) c.9513C>T (p.Ser3171=) c.4782C>T (p.Ser1594=) c.2532C>T (p.Ser844=) c.3495C>T (p.Ser1165=) | |
| 1 | g.197090949G>C | CA344002898 | ASPM | n.2824C>G c.9537C>G (p.Ser3179Arg) c.9759C>G (p.Ser3253Arg) c.9513C>G (p.Ser3171Arg) c.4782C>G (p.Ser1594Arg) c.2532C>G (p.Ser844Arg) c.3495C>G (p.Ser1165Arg) | |
| 1 | g.197090949G>T | CA344002903 | ASPM | n.2824C>A c.9537C>A (p.Ser3179Arg) c.9759C>A (p.Ser3253Arg) c.9513C>A (p.Ser3171Arg) c.4782C>A (p.Ser1594Arg) c.2532C>A (p.Ser844Arg) c.3495C>A (p.Ser1165Arg) | |
| 1 | g.197090950C>A | CA344002911 | ASPM | n.2823G>T c.9536G>T (p.Ser3179Ile) c.9758G>T (p.Ser3253Ile) c.9512G>T (p.Ser3171Ile) c.4781G>T (p.Ser1594Ile) c.2531G>T (p.Ser844Ile) c.3494G>T (p.Ser1165Ile) | |
| 1 | g.197090950C= | CA1217925813 | ASPM | n.2823G= c.9536G= (p.Ser3179=) c.9758G= (p.Ser3253=) c.9512G= (p.Ser3171=) c.4781G= (p.Ser1594=) c.2531G= (p.Ser844=) c.3494G= (p.Ser1165=) | |
| 1 | g.197090950C>G | CA344002913 | ASPM | n.2823G>C c.9536G>C (p.Ser3179Thr) c.9758G>C (p.Ser3253Thr) c.9512G>C (p.Ser3171Thr) c.4781G>C (p.Ser1594Thr) c.2531G>C (p.Ser844Thr) c.3494G>C (p.Ser1165Thr) | |
| 1 | g.197090950C>T | CA1308931 | ASPM | n.2823G>A c.9536G>A (p.Ser3179Asn) c.9758G>A (p.Ser3253Asn) c.9512G>A (p.Ser3171Asn) c.4781G>A (p.Ser1594Asn) c.2531G>A (p.Ser844Asn) c.3494G>A (p.Ser1165Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090951T>A | CA344002915 | ASPM | n.2822A>T c.9535A>T (p.Ser3179Cys) c.9757A>T (p.Ser3253Cys) c.9511A>T (p.Ser3171Cys) c.4780A>T (p.Ser1594Cys) c.2530A>T (p.Ser844Cys) c.3493A>T (p.Ser1165Cys) | |
| 1 | g.197090951T>C | CA344002918 | ASPM | n.2822A>G c.9535A>G (p.Ser3179Gly) c.9757A>G (p.Ser3253Gly) c.9511A>G (p.Ser3171Gly) c.4780A>G (p.Ser1594Gly) c.2530A>G (p.Ser844Gly) c.3493A>G (p.Ser1165Gly) | |
| 1 | g.197090951T>G | CA344002922 | ASPM | n.2822A>C c.9535A>C (p.Ser3179Arg) c.9757A>C (p.Ser3253Arg) c.9511A>C (p.Ser3171Arg) c.4780A>C (p.Ser1594Arg) c.2530A>C (p.Ser844Arg) c.3493A>C (p.Ser1165Arg) |