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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 1 | g.197090952C>A | CA422672455 | ASPM | n.2821G>T c.9534G>T (p.Leu3178=) c.9756G>T (p.Leu3252=) c.9510G>T (p.Leu3170=) c.4779G>T (p.Leu1593=) c.2529G>T (p.Leu843=) c.3492G>T (p.Leu1164=) | |
| 1 | g.197090952C>G | CA422672456 | ASPM | n.2821G>C c.9534G>C (p.Leu3178=) c.9756G>C (p.Leu3252=) c.9510G>C (p.Leu3170=) c.4779G>C (p.Leu1593=) c.2529G>C (p.Leu843=) c.3492G>C (p.Leu1164=) | gnomAD v4 |
| 1 | g.197090952C>T | CA422672457 | ASPM | n.2821G>A c.9534G>A (p.Leu3178=) c.9756G>A (p.Leu3252=) c.9510G>A (p.Leu3170=) c.4779G>A (p.Leu1593=) c.2529G>A (p.Leu843=) c.3492G>A (p.Leu1164=) | |
| 1 | g.197090953A>C | CA344002926 | ASPM | n.2820T>G c.9533T>G (p.Leu3178Arg) c.9755T>G (p.Leu3252Arg) c.9509T>G (p.Leu3170Arg) c.4778T>G (p.Leu1593Arg) c.2528T>G (p.Leu843Arg) c.3491T>G (p.Leu1164Arg) | |
| 1 | g.197090953A>G | CA344002928 | ASPM | n.2820T>C c.9533T>C (p.Leu3178Pro) c.9755T>C (p.Leu3252Pro) c.9509T>C (p.Leu3170Pro) c.4778T>C (p.Leu1593Pro) c.2528T>C (p.Leu843Pro) c.3491T>C (p.Leu1164Pro) | |
| 1 | g.197090953A>T | CA344002931 | ASPM | n.2820T>A c.9533T>A (p.Leu3178Gln) c.9755T>A (p.Leu3252Gln) c.9509T>A (p.Leu3170Gln) c.4778T>A (p.Leu1593Gln) c.2528T>A (p.Leu843Gln) c.3491T>A (p.Leu1164Gln) | |
| 1 | g.197090954G>A | CA422672458 | ASPM | n.2819C>T c.9532C>T (p.Leu3178=) c.9754C>T (p.Leu3252=) c.9508C>T (p.Leu3170=) c.4777C>T (p.Leu1593=) c.2527C>T (p.Leu843=) c.3490C>T (p.Leu1164=) | |
| 1 | g.197090954G>C | CA344002947 | ASPM | n.2819C>G c.9532C>G (p.Leu3178Val) c.9754C>G (p.Leu3252Val) c.9508C>G (p.Leu3170Val) c.4777C>G (p.Leu1593Val) c.2527C>G (p.Leu843Val) c.3490C>G (p.Leu1164Val) | gnomAD v4 |
| 1 | g.197090954G>T | CA344002934 | ASPM | n.2819C>A c.9532C>A (p.Leu3178Met) c.9754C>A (p.Leu3252Met) c.9508C>A (p.Leu3170Met) c.4777C>A (p.Leu1593Met) c.2527C>A (p.Leu843Met) c.3490C>A (p.Leu1164Met) | |
| 1 | g.197090955A>C | CA344002952 | ASPM | n.2818T>G c.9531T>G (p.Cys3177Trp) c.9753T>G (p.Cys3251Trp) c.9507T>G (p.Cys3169Trp) c.4776T>G (p.Cys1592Trp) c.2526T>G (p.Cys842Trp) c.3489T>G (p.Cys1163Trp) | |
| 1 | g.197090955A>G | CA422672459 | ASPM | n.2818T>C c.9531T>C (p.Cys3177=) c.9753T>C (p.Cys3251=) c.9507T>C (p.Cys3169=) c.4776T>C (p.Cys1592=) c.2526T>C (p.Cys842=) c.3489T>C (p.Cys1163=) | |
| 1 | g.197090955A>T | CA344002955 | ASPM | n.2818T>A c.9531T>A (p.Cys3177Ter) c.9753T>A (p.Cys3251Ter) c.9507T>A (p.Cys3169Ter) c.4776T>A (p.Cys1592Ter) c.2526T>A (p.Cys842Ter) c.3489T>A (p.Cys1163Ter) | |
| 1 | g.197090956C>A | CA344002962 | ASPM | n.2817G>T c.9530G>T (p.Cys3177Phe) c.9752G>T (p.Cys3251Phe) c.9506G>T (p.Cys3169Phe) c.4775G>T (p.Cys1592Phe) c.2525G>T (p.Cys842Phe) c.3488G>T (p.Cys1163Phe) | |
| 1 | g.197090956C>G | CA344002965 | ASPM | n.2817G>C c.9530G>C (p.Cys3177Ser) c.9752G>C (p.Cys3251Ser) c.9506G>C (p.Cys3169Ser) c.4775G>C (p.Cys1592Ser) c.2525G>C (p.Cys842Ser) c.3488G>C (p.Cys1163Ser) | |
| 1 | g.197090956C>T | CA344002968 | ASPM | n.2817G>A c.9530G>A (p.Cys3177Tyr) c.9752G>A (p.Cys3251Tyr) c.9506G>A (p.Cys3169Tyr) c.4775G>A (p.Cys1592Tyr) c.2525G>A (p.Cys842Tyr) c.3488G>A (p.Cys1163Tyr) | |
| 1 | g.197090957A= | CA1217925817 | ASPM | n.2816T= c.9529T= (p.Cys3177=) c.9751T= (p.Cys3251=) c.9505T= (p.Cys3169=) c.4774T= (p.Cys1592=) c.2524T= (p.Cys842=) c.3487T= (p.Cys1163=) | |
| 1 | g.197090957A>C | CA344002970 | ASPM | n.2816T>G c.9529T>G (p.Cys3177Gly) c.9751T>G (p.Cys3251Gly) c.9505T>G (p.Cys3169Gly) c.4774T>G (p.Cys1592Gly) c.2524T>G (p.Cys842Gly) c.3487T>G (p.Cys1163Gly) | |
| 1 | g.197090957A>G | CA344002974 | ASPM | n.2816T>C c.9529T>C (p.Cys3177Arg) c.9751T>C (p.Cys3251Arg) c.9505T>C (p.Cys3169Arg) c.4774T>C (p.Cys1592Arg) c.2524T>C (p.Cys842Arg) c.3487T>C (p.Cys1163Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090957A>T | CA344002977 | ASPM | n.2816T>A c.9529T>A (p.Cys3177Ser) c.9751T>A (p.Cys3251Ser) c.9505T>A (p.Cys3169Ser) c.4774T>A (p.Cys1592Ser) c.2524T>A (p.Cys842Ser) c.3487T>A (p.Cys1163Ser) | |
| 1 | g.197090958T>A | CA344002981 | ASPM | n.2815A>T c.9528A>T (p.Glu3176Asp) c.9750A>T (p.Glu3250Asp) c.9504A>T (p.Glu3168Asp) c.4773A>T (p.Glu1591Asp) c.2523A>T (p.Glu841Asp) c.3486A>T (p.Glu1162Asp) | |
| 1 | g.197090958T>C | CA422672460 | ASPM | n.2815A>G c.9528A>G (p.Glu3176=) c.9750A>G (p.Glu3250=) c.9504A>G (p.Glu3168=) c.4773A>G (p.Glu1591=) c.2523A>G (p.Glu841=) c.3486A>G (p.Glu1162=) | gnomAD v4 |
| 1 | g.197090958T>G | CA344002985 | ASPM | n.2815A>C c.9528A>C (p.Glu3176Asp) c.9750A>C (p.Glu3250Asp) c.9504A>C (p.Glu3168Asp) c.4773A>C (p.Glu1591Asp) c.2523A>C (p.Glu841Asp) c.3486A>C (p.Glu1162Asp) | |
| 1 | g.197090959T>A | CA344002991 | ASPM | n.2814A>T c.9527A>T (p.Glu3176Val) c.9749A>T (p.Glu3250Val) c.9503A>T (p.Glu3168Val) c.4772A>T (p.Glu1591Val) c.2522A>T (p.Glu841Val) c.3485A>T (p.Glu1162Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090959T>C | CA344002994 | ASPM | n.2814A>G c.9527A>G (p.Glu3176Gly) c.9749A>G (p.Glu3250Gly) c.9503A>G (p.Glu3168Gly) c.4772A>G (p.Glu1591Gly) c.2522A>G (p.Glu841Gly) c.3485A>G (p.Glu1162Gly) | |
| 1 | g.197090959T>G | CA344003009 | ASPM | n.2814A>C c.9527A>C (p.Glu3176Ala) c.9749A>C (p.Glu3250Ala) c.9503A>C (p.Glu3168Ala) c.4772A>C (p.Glu1591Ala) c.2522A>C (p.Glu841Ala) c.3485A>C (p.Glu1162Ala) | |
| 1 | g.197090959T= | CA1217925821 | ASPM | n.2814A= c.9527A= (p.Glu3176=) c.9749A= (p.Glu3250=) c.9503A= (p.Glu3168=) c.4772A= (p.Glu1591=) c.2522A= (p.Glu841=) c.3485A= (p.Glu1162=) | |
| 1 | g.197090960C>A | CA344003017 | ASPM | n.2813G>T c.9526G>T (p.Glu3176Ter) c.9748G>T (p.Glu3250Ter) c.9502G>T (p.Glu3168Ter) c.4771G>T (p.Glu1591Ter) c.2521G>T (p.Glu841Ter) c.3484G>T (p.Glu1162Ter) | |
| 1 | g.197090960C>G | CA344003015 | ASPM | n.2813G>C c.9526G>C (p.Glu3176Gln) c.9748G>C (p.Glu3250Gln) c.9502G>C (p.Glu3168Gln) c.4771G>C (p.Glu1591Gln) c.2521G>C (p.Glu841Gln) c.3484G>C (p.Glu1162Gln) | COSMIC |
| 1 | g.197090960C>T | CA344003012 | ASPM | n.2813G>A c.9526G>A (p.Glu3176Lys) c.9748G>A (p.Glu3250Lys) c.9502G>A (p.Glu3168Lys) c.4771G>A (p.Glu1591Lys) c.2521G>A (p.Glu841Lys) c.3484G>A (p.Glu1162Lys) | COSMIC |
| 1 | g.197090961T>A | CA344003022 | ASPM | n.2812A>T c.9525A>T (p.Gln3175His) c.9747A>T (p.Gln3249His) c.9501A>T (p.Gln3167His) c.4770A>T (p.Gln1590His) c.2520A>T (p.Gln840His) c.3483A>T (p.Gln1161His) | |
| 1 | g.197090961T>C | CA422672461 | ASPM | n.2812A>G c.9525A>G (p.Gln3175=) c.9747A>G (p.Gln3249=) c.9501A>G (p.Gln3167=) c.4770A>G (p.Gln1590=) c.2520A>G (p.Gln840=) c.3483A>G (p.Gln1161=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090961T>G | CA344003026 | ASPM | n.2812A>C c.9525A>C (p.Gln3175His) c.9747A>C (p.Gln3249His) c.9501A>C (p.Gln3167His) c.4770A>C (p.Gln1590His) c.2520A>C (p.Gln840His) c.3483A>C (p.Gln1161His) | |
| 1 | g.197090961T= | CA1217925824 | ASPM | n.2812A= c.9525A= (p.Gln3175=) c.9747A= (p.Gln3249=) c.9501A= (p.Gln3167=) c.4770A= (p.Gln1590=) c.2520A= (p.Gln840=) c.3483A= (p.Gln1161=) | |
| 1 | g.197090962T>A | CA344003027 | ASPM | n.2811A>T c.9524A>T (p.Gln3175Leu) c.9746A>T (p.Gln3249Leu) c.9500A>T (p.Gln3167Leu) c.4769A>T (p.Gln1590Leu) c.2519A>T (p.Gln840Leu) c.3482A>T (p.Gln1161Leu) | gnomAD v4 |
| 1 | g.197090962T>C | CA344003028 | ASPM | n.2811A>G c.9524A>G (p.Gln3175Arg) c.9746A>G (p.Gln3249Arg) c.9500A>G (p.Gln3167Arg) c.4769A>G (p.Gln1590Arg) c.2519A>G (p.Gln840Arg) c.3482A>G (p.Gln1161Arg) | |
| 1 | g.197090962T>G | CA344003033 | ASPM | n.2811A>C c.9524A>C (p.Gln3175Pro) c.9746A>C (p.Gln3249Pro) c.9500A>C (p.Gln3167Pro) c.4769A>C (p.Gln1590Pro) c.2519A>C (p.Gln840Pro) c.3482A>C (p.Gln1161Pro) | |
| 1 | g.197090963G>A | CA344003037 | ASPM | n.2810C>T c.9523C>T (p.Gln3175Ter) c.9745C>T (p.Gln3249Ter) c.9499C>T (p.Gln3167Ter) c.4768C>T (p.Gln1590Ter) c.2518C>T (p.Gln840Ter) c.3481C>T (p.Gln1161Ter) | |
| 1 | g.197090963G>C | CA344003046 | ASPM | n.2810C>G c.9523C>G (p.Gln3175Glu) c.9745C>G (p.Gln3249Glu) c.9499C>G (p.Gln3167Glu) c.4768C>G (p.Gln1590Glu) c.2518C>G (p.Gln840Glu) c.3481C>G (p.Gln1161Glu) | dbSNP |
| 1 | g.197090963G= | CA1217925827 | ASPM | n.2810C= c.9523C= (p.Gln3175=) c.9745C= (p.Gln3249=) c.9499C= (p.Gln3167=) c.4768C= (p.Gln1590=) c.2518C= (p.Gln840=) c.3481C= (p.Gln1161=) | |
| 1 | g.197090963G>T | CA344003049 | ASPM | n.2810C>A c.9523C>A (p.Gln3175Lys) c.9745C>A (p.Gln3249Lys) c.9499C>A (p.Gln3167Lys) c.4768C>A (p.Gln1590Lys) c.2518C>A (p.Gln840Lys) c.3481C>A (p.Gln1161Lys) | |
| 1 | g.197090964A>C | CA422672462 | ASPM | n.2809T>G c.9522T>G (p.Gly3174=) c.9744T>G (p.Gly3248=) c.9498T>G (p.Gly3166=) c.4767T>G (p.Gly1589=) c.2517T>G (p.Gly839=) c.3480T>G (p.Gly1160=) | |
| 1 | g.197090964A>G | CA422672464 | ASPM | n.2809T>C c.9522T>C (p.Gly3174=) c.9744T>C (p.Gly3248=) c.9498T>C (p.Gly3166=) c.4767T>C (p.Gly1589=) c.2517T>C (p.Gly839=) c.3480T>C (p.Gly1160=) | gnomAD v4 |
| 1 | g.197090964A>T | CA422672463 | ASPM | n.2809T>A c.9522T>A (p.Gly3174=) c.9744T>A (p.Gly3248=) c.9498T>A (p.Gly3166=) c.4767T>A (p.Gly1589=) c.2517T>A (p.Gly839=) c.3480T>A (p.Gly1160=) | |
| 1 | g.197090965C>A | CA344003054 | ASPM | n.2808G>T c.9521G>T (p.Gly3174Val) c.9743G>T (p.Gly3248Val) c.9497G>T (p.Gly3166Val) c.4766G>T (p.Gly1589Val) c.2516G>T (p.Gly839Val) c.3479G>T (p.Gly1160Val) | dbSNP |
| 1 | g.197090965C= | CA1148349526 | ASPM | n.2808G= c.9521G= (p.Gly3174=) c.9743G= (p.Gly3248=) c.9497G= (p.Gly3166=) c.4766G= (p.Gly1589=) c.2516G= (p.Gly839=) c.3479G= (p.Gly1160=) | |
| 1 | g.197090965C>G | CA344003057 | ASPM | n.2808G>C c.9521G>C (p.Gly3174Ala) c.9743G>C (p.Gly3248Ala) c.9497G>C (p.Gly3166Ala) c.4766G>C (p.Gly1589Ala) c.2516G>C (p.Gly839Ala) c.3479G>C (p.Gly1160Ala) | |
| 1 | g.197090965C>T | CA1308932 | ASPM | n.2808G>A c.9521G>A (p.Gly3174Asp) c.9743G>A (p.Gly3248Asp) c.9497G>A (p.Gly3166Asp) c.4766G>A (p.Gly1589Asp) c.2516G>A (p.Gly839Asp) c.3479G>A (p.Gly1160Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090966C>A | CA344003063 | ASPM | n.2807G>T c.9520G>T (p.Gly3174Cys) c.9742G>T (p.Gly3248Cys) c.9496G>T (p.Gly3166Cys) c.4765G>T (p.Gly1589Cys) c.2515G>T (p.Gly839Cys) c.3478G>T (p.Gly1160Cys) | |
| 1 | g.197090966C= | CA1217925834 | ASPM | n.2807G= c.9520G= (p.Gly3174=) c.9742G= (p.Gly3248=) c.9496G= (p.Gly3166=) c.4765G= (p.Gly1589=) c.2515G= (p.Gly839=) c.3478G= (p.Gly1160=) | |
| 1 | g.197090966C>G | CA344003065 | ASPM | n.2807G>C c.9520G>C (p.Gly3174Arg) c.9742G>C (p.Gly3248Arg) c.9496G>C (p.Gly3166Arg) c.4765G>C (p.Gly1589Arg) c.2515G>C (p.Gly839Arg) c.3478G>C (p.Gly1160Arg) | |
| 1 | g.197090966C>T | CA344003068 | ASPM | n.2807G>A c.9520G>A (p.Gly3174Ser) c.9742G>A (p.Gly3248Ser) c.9496G>A (p.Gly3166Ser) c.4765G>A (p.Gly1589Ser) c.2515G>A (p.Gly839Ser) c.3478G>A (p.Gly1160Ser) | dbSNP gnomAD v4 |
| 1 | g.197090967T>A | CA344003076 | ASPM | n.2806A>T c.9519A>T (p.Glu3173Asp) c.9741A>T (p.Glu3247Asp) c.9495A>T (p.Glu3165Asp) c.4764A>T (p.Glu1588Asp) c.2514A>T (p.Glu838Asp) c.3477A>T (p.Glu1159Asp) | |
| 1 | g.197090967T>C | CA422672465 | ASPM | n.2806A>G c.9519A>G (p.Glu3173=) c.9741A>G (p.Glu3247=) c.9495A>G (p.Glu3165=) c.4764A>G (p.Glu1588=) c.2514A>G (p.Glu838=) c.3477A>G (p.Glu1159=) | |
| 1 | g.197090967T>G | CA344003072 | ASPM | n.2806A>C c.9519A>C (p.Glu3173Asp) c.9741A>C (p.Glu3247Asp) c.9495A>C (p.Glu3165Asp) c.4764A>C (p.Glu1588Asp) c.2514A>C (p.Glu838Asp) c.3477A>C (p.Glu1159Asp) | |
| 1 | g.197090968T>A | CA344003080 | ASPM | n.2805A>T c.9518A>T (p.Glu3173Val) c.9740A>T (p.Glu3247Val) c.9494A>T (p.Glu3165Val) c.4763A>T (p.Glu1588Val) c.2513A>T (p.Glu838Val) c.3476A>T (p.Glu1159Val) | |
| 1 | g.197090968T>C | CA344003083 | ASPM | n.2805A>G c.9518A>G (p.Glu3173Gly) c.9740A>G (p.Glu3247Gly) c.9494A>G (p.Glu3165Gly) c.4763A>G (p.Glu1588Gly) c.2513A>G (p.Glu838Gly) c.3476A>G (p.Glu1159Gly) | |
| 1 | g.197090968T>G | CA344003095 | ASPM | n.2805A>C c.9518A>C (p.Glu3173Ala) c.9740A>C (p.Glu3247Ala) c.9494A>C (p.Glu3165Ala) c.4763A>C (p.Glu1588Ala) c.2513A>C (p.Glu838Ala) c.3476A>C (p.Glu1159Ala) | |
| 1 | g.197090969C>A | CA344003099 | ASPM | n.2804G>T c.9517G>T (p.Glu3173Ter) c.9739G>T (p.Glu3247Ter) c.9493G>T (p.Glu3165Ter) c.4762G>T (p.Glu1588Ter) c.2512G>T (p.Glu838Ter) c.3475G>T (p.Glu1159Ter) | |
| 1 | g.197090969C>G | CA344003102 | ASPM | n.2804G>C c.9517G>C (p.Glu3173Gln) c.9739G>C (p.Glu3247Gln) c.9493G>C (p.Glu3165Gln) c.4762G>C (p.Glu1588Gln) c.2512G>C (p.Glu838Gln) c.3475G>C (p.Glu1159Gln) | |
| 1 | g.197090969C>T | CA344003105 | ASPM | n.2804G>A c.9517G>A (p.Glu3173Lys) c.9739G>A (p.Glu3247Lys) c.9493G>A (p.Glu3165Lys) c.4762G>A (p.Glu1588Lys) c.2512G>A (p.Glu838Lys) c.3475G>A (p.Glu1159Lys) | |
| 1 | g.197090970A>C | CA344003106 | ASPM | n.2803T>G c.9516T>G (p.His3172Gln) c.9738T>G (p.His3246Gln) c.9492T>G (p.His3164Gln) c.4761T>G (p.His1587Gln) c.2511T>G (p.His837Gln) c.3474T>G (p.His1158Gln) | |
| 1 | g.197090970A>G | CA422672466 | ASPM | n.2803T>C c.9516T>C (p.His3172=) c.9738T>C (p.His3246=) c.9492T>C (p.His3164=) c.4761T>C (p.His1587=) c.2511T>C (p.His837=) c.3474T>C (p.His1158=) | |
| 1 | g.197090970A>T | CA344003107 | ASPM | n.2803T>A c.9516T>A (p.His3172Gln) c.9738T>A (p.His3246Gln) c.9492T>A (p.His3164Gln) c.4761T>A (p.His1587Gln) c.2511T>A (p.His837Gln) c.3474T>A (p.His1158Gln) | |
| 1 | g.197090971T>A | CA344003111 | ASPM | n.2802A>T c.9515A>T (p.His3172Leu) c.9737A>T (p.His3246Leu) c.9491A>T (p.His3164Leu) c.4760A>T (p.His1587Leu) c.2510A>T (p.His837Leu) c.3473A>T (p.His1158Leu) | gnomAD v4 |
| 1 | g.197090971T>C | CA344003113 | ASPM | n.2802A>G c.9515A>G (p.His3172Arg) c.9737A>G (p.His3246Arg) c.9491A>G (p.His3164Arg) c.4760A>G (p.His1587Arg) c.2510A>G (p.His837Arg) c.3473A>G (p.His1158Arg) | gnomAD v4 |
| 1 | g.197090971T>G | CA344003129 | ASPM | n.2802A>C c.9515A>C (p.His3172Pro) c.9737A>C (p.His3246Pro) c.9491A>C (p.His3164Pro) c.4760A>C (p.His1587Pro) c.2510A>C (p.His837Pro) c.3473A>C (p.His1158Pro) | |
| 1 | g.197090972G>A | CA344003133 | ASPM | n.2801C>T c.9514C>T (p.His3172Tyr) c.9736C>T (p.His3246Tyr) c.9490C>T (p.His3164Tyr) c.4759C>T (p.His1587Tyr) c.2509C>T (p.His837Tyr) c.3472C>T (p.His1158Tyr) | |
| 1 | g.197090972G>C | CA344003139 | ASPM | n.2801C>G c.9514C>G (p.His3172Asp) c.9736C>G (p.His3246Asp) c.9490C>G (p.His3164Asp) c.4759C>G (p.His1587Asp) c.2509C>G (p.His837Asp) c.3472C>G (p.His1158Asp) | |
| 1 | g.197090972G>T | CA344003142 | ASPM | n.2801C>A c.9514C>A (p.His3172Asn) c.9736C>A (p.His3246Asn) c.9490C>A (p.His3164Asn) c.4759C>A (p.His1587Asn) c.2509C>A (p.His837Asn) c.3472C>A (p.His1158Asn) | gnomAD v4 |