Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197090350_197090353del | CA2649660643 | ASPM | n.2961_2964del c.9674_9677del (p.Asp3225ValfsTer9) c.9896_9899del (p.Asp3299ValfsTer9) c.9650_9653del (p.Asp3217ValfsTer9) c.4919_4922del (p.Asp1640ValfsTer9) c.2669_2672del (p.Asp890ValfsTer9) c.3632_3635del (p.Asp1211ValfsTer9) | gnomAD v4 |
1 | g.197090349A= | CA1141896007 | ASPM | n.2963T= c.9676T= (p.Cys3226=) c.9898T= (p.Cys3300=) c.9652T= (p.Cys3218=) c.4921T= (p.Cys1641=) c.2671T= (p.Cys891=) c.3634T= (p.Cys1212=) | |
1 | g.197090349A>C | CA1308881 | ASPM | n.2963T>G c.9676T>G (p.Cys3226Gly) c.9898T>G (p.Cys3300Gly) c.9652T>G (p.Cys3218Gly) c.4921T>G (p.Cys1641Gly) c.2671T>G (p.Cys891Gly) c.3634T>G (p.Cys1212Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090349A>G | CA344001935 | ASPM | n.2963T>C c.9676T>C (p.Cys3226Arg) c.9898T>C (p.Cys3300Arg) c.9652T>C (p.Cys3218Arg) c.4921T>C (p.Cys1641Arg) c.2671T>C (p.Cys891Arg) c.3634T>C (p.Cys1212Arg) | gnomAD v4 |
1 | g.197090349A>T | CA344001936 | ASPM | n.2963T>A c.9676T>A (p.Cys3226Ser) c.9898T>A (p.Cys3300Ser) c.9652T>A (p.Cys3218Ser) c.4921T>A (p.Cys1641Ser) c.2671T>A (p.Cys891Ser) c.3634T>A (p.Cys1212Ser) | |
1 | g.197090350A= | CA1148878277 | ASPM | n.2962T= c.9675T= (p.Asp3225=) c.9897T= (p.Asp3299=) c.9651T= (p.Asp3217=) c.4920T= (p.Asp1640=) c.2670T= (p.Asp890=) c.3633T= (p.Asp1211=) | |
1 | g.197090350A>C | CA344001937 | ASPM | n.2962T>G c.9675T>G (p.Asp3225Glu) c.9897T>G (p.Asp3299Glu) c.9651T>G (p.Asp3217Glu) c.4920T>G (p.Asp1640Glu) c.2670T>G (p.Asp890Glu) c.3633T>G (p.Asp1211Glu) | gnomAD v4 |
1 | g.197090350A>G | CA35862030 | ASPM | n.2962T>C c.9675T>C (p.Asp3225=) c.9897T>C (p.Asp3299=) c.9651T>C (p.Asp3217=) c.4920T>C (p.Asp1640=) c.2670T>C (p.Asp890=) c.3633T>C (p.Asp1211=) | ClinVar dbSNP gnomAD v4 |
1 | g.197090350A>T | CA1308882 | ASPM | n.2962T>A c.9675T>A (p.Asp3225Glu) c.9897T>A (p.Asp3299Glu) c.9651T>A (p.Asp3217Glu) c.4920T>A (p.Asp1640Glu) c.2670T>A (p.Asp890Glu) c.3633T>A (p.Asp1211Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090351T>A | CA344001940 | ASPM | n.2961A>T c.9674A>T (p.Asp3225Val) c.9896A>T (p.Asp3299Val) c.9650A>T (p.Asp3217Val) c.4919A>T (p.Asp1640Val) c.2669A>T (p.Asp890Val) c.3632A>T (p.Asp1211Val) | |
1 | g.197090351T>C | CA344001942 | ASPM | n.2961A>G c.9674A>G (p.Asp3225Gly) c.9896A>G (p.Asp3299Gly) c.9650A>G (p.Asp3217Gly) c.4919A>G (p.Asp1640Gly) c.2669A>G (p.Asp890Gly) c.3632A>G (p.Asp1211Gly) | gnomAD v4 |
1 | g.197090351T>G | CA344001943 | ASPM | n.2961A>C c.9674A>C (p.Asp3225Ala) c.9896A>C (p.Asp3299Ala) c.9650A>C (p.Asp3217Ala) c.4919A>C (p.Asp1640Ala) c.2669A>C (p.Asp890Ala) c.3632A>C (p.Asp1211Ala) | |
1 | g.197090352del | CA2515381945 | ASPM | n.2960del c.9673del (p.Asp3225IlefsTer10) c.9895del (p.Asp3299IlefsTer10) c.9649del (p.Asp3217IlefsTer10) c.4918del (p.Asp1640IlefsTer10) c.2668del (p.Asp890IlefsTer10) c.3631del (p.Asp1211IlefsTer10) | |
1 | g.197090352C>A | CA344001944 | ASPM | n.2960G>T c.9673G>T (p.Asp3225Tyr) c.9895G>T (p.Asp3299Tyr) c.9649G>T (p.Asp3217Tyr) c.4918G>T (p.Asp1640Tyr) c.2668G>T (p.Asp890Tyr) c.3631G>T (p.Asp1211Tyr) | dbSNP gnomAD v4 |
1 | g.197090352C= | CA1217925322 | ASPM | n.2960G= c.9673G= (p.Asp3225=) c.9895G= (p.Asp3299=) c.9649G= (p.Asp3217=) c.4918G= (p.Asp1640=) c.2668G= (p.Asp890=) c.3631G= (p.Asp1211=) | |
1 | g.197090352C>G | CA344001945 | ASPM | n.2960G>C c.9673G>C (p.Asp3225His) c.9895G>C (p.Asp3299His) c.9649G>C (p.Asp3217His) c.4918G>C (p.Asp1640His) c.2668G>C (p.Asp890His) c.3631G>C (p.Asp1211His) | |
1 | g.197090352C>T | CA344001947 | ASPM | n.2960G>A c.9673G>A (p.Asp3225Asn) c.9895G>A (p.Asp3299Asn) c.9649G>A (p.Asp3217Asn) c.4918G>A (p.Asp1640Asn) c.2668G>A (p.Asp890Asn) c.3631G>A (p.Asp1211Asn) | |
1 | g.197090353A>C | CA344001949 | ASPM | n.2959T>G c.9672T>G (p.Asn3224Lys) c.9894T>G (p.Asn3298Lys) c.9648T>G (p.Asn3216Lys) c.4917T>G (p.Asn1639Lys) c.2667T>G (p.Asn889Lys) c.3630T>G (p.Asn1210Lys) | |
1 | g.197090353A>G | CA422672347 | ASPM | n.2959T>C c.9672T>C (p.Asn3224=) c.9894T>C (p.Asn3298=) c.9648T>C (p.Asn3216=) c.4917T>C (p.Asn1639=) c.2667T>C (p.Asn889=) c.3630T>C (p.Asn1210=) | |
1 | g.197090353A>T | CA344001950 | ASPM | n.2959T>A c.9672T>A (p.Asn3224Lys) c.9894T>A (p.Asn3298Lys) c.9648T>A (p.Asn3216Lys) c.4917T>A (p.Asn1639Lys) c.2667T>A (p.Asn889Lys) c.3630T>A (p.Asn1210Lys) | |
1 | g.197090354T>A | CA344001953 | ASPM | n.2958A>T c.9671A>T (p.Asn3224Ile) c.9893A>T (p.Asn3298Ile) c.9647A>T (p.Asn3216Ile) c.4916A>T (p.Asn1639Ile) c.2666A>T (p.Asn889Ile) c.3629A>T (p.Asn1210Ile) | |
1 | g.197090354T>C | CA344001958 | ASPM | n.2958A>G c.9671A>G (p.Asn3224Ser) c.9893A>G (p.Asn3298Ser) c.9647A>G (p.Asn3216Ser) c.4916A>G (p.Asn1639Ser) c.2666A>G (p.Asn889Ser) c.3629A>G (p.Asn1210Ser) | |
1 | g.197090354T>G | CA344001959 | ASPM | n.2958A>C c.9671A>C (p.Asn3224Thr) c.9893A>C (p.Asn3298Thr) c.9647A>C (p.Asn3216Thr) c.4916A>C (p.Asn1639Thr) c.2666A>C (p.Asn889Thr) c.3629A>C (p.Asn1210Thr) | |
1 | g.197090355T>A | CA344001965 | ASPM | n.2957A>T c.9670A>T (p.Asn3224Tyr) c.9892A>T (p.Asn3298Tyr) c.9646A>T (p.Asn3216Tyr) c.4915A>T (p.Asn1639Tyr) c.2665A>T (p.Asn889Tyr) c.3628A>T (p.Asn1210Tyr) | |
1 | g.197090355T>C | CA344001963 | ASPM | n.2957A>G c.9670A>G (p.Asn3224Asp) c.9892A>G (p.Asn3298Asp) c.9646A>G (p.Asn3216Asp) c.4915A>G (p.Asn1639Asp) c.2665A>G (p.Asn889Asp) c.3628A>G (p.Asn1210Asp) | |
1 | g.197090355T>G | CA344001961 | ASPM | n.2957A>C c.9670A>C (p.Asn3224His) c.9892A>C (p.Asn3298His) c.9646A>C (p.Asn3216His) c.4915A>C (p.Asn1639His) c.2665A>C (p.Asn889His) c.3628A>C (p.Asn1210His) | |
1 | g.197090356T>A | CA344001968 | ASPM | n.2956A>T c.9669A>T (p.Lys3223Asn) c.9891A>T (p.Lys3297Asn) c.9645A>T (p.Lys3215Asn) c.4914A>T (p.Lys1638Asn) c.2664A>T (p.Lys888Asn) c.3627A>T (p.Lys1209Asn) | |
1 | g.197090356T>C | CA422672351 | ASPM | n.2956A>G c.9669A>G (p.Lys3223=) c.9891A>G (p.Lys3297=) c.9645A>G (p.Lys3215=) c.4914A>G (p.Lys1638=) c.2664A>G (p.Lys888=) c.3627A>G (p.Lys1209=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090356T>G | CA344001970 | ASPM | n.2956A>C c.9669A>C (p.Lys3223Asn) c.9891A>C (p.Lys3297Asn) c.9645A>C (p.Lys3215Asn) c.4914A>C (p.Lys1638Asn) c.2664A>C (p.Lys888Asn) c.3627A>C (p.Lys1209Asn) | |
1 | g.197090356T= | CA1217925323 | ASPM | n.2956A= c.9669A= (p.Lys3223=) c.9891A= (p.Lys3297=) c.9645A= (p.Lys3215=) c.4914A= (p.Lys1638=) c.2664A= (p.Lys888=) c.3627A= (p.Lys1209=) | |
1 | g.197090357T>A | CA344001990 | ASPM | n.2955A>T c.9668A>T (p.Lys3223Ile) c.9890A>T (p.Lys3297Ile) c.9644A>T (p.Lys3215Ile) c.4913A>T (p.Lys1638Ile) c.2663A>T (p.Lys888Ile) c.3626A>T (p.Lys1209Ile) | |
1 | g.197090357T>C | CA344001991 | ASPM | n.2955A>G c.9668A>G (p.Lys3223Arg) c.9890A>G (p.Lys3297Arg) c.9644A>G (p.Lys3215Arg) c.4913A>G (p.Lys1638Arg) c.2663A>G (p.Lys888Arg) c.3626A>G (p.Lys1209Arg) | dbSNP gnomAD v4 |
1 | g.197090357T>G | CA344001992 | ASPM | n.2955A>C c.9668A>C (p.Lys3223Thr) c.9890A>C (p.Lys3297Thr) c.9644A>C (p.Lys3215Thr) c.4913A>C (p.Lys1638Thr) c.2663A>C (p.Lys888Thr) c.3626A>C (p.Lys1209Thr) | |
1 | g.197090357T= | CA1217925324 | ASPM | n.2955A= c.9668A= (p.Lys3223=) c.9890A= (p.Lys3297=) c.9644A= (p.Lys3215=) c.4913A= (p.Lys1638=) c.2663A= (p.Lys888=) c.3626A= (p.Lys1209=) | |
1 | g.197090358T>A | CA344001995 | ASPM | n.2954A>T c.9667A>T (p.Lys3223Ter) c.9889A>T (p.Lys3297Ter) c.9643A>T (p.Lys3215Ter) c.4912A>T (p.Lys1638Ter) c.2662A>T (p.Lys888Ter) c.3625A>T (p.Lys1209Ter) | |
1 | g.197090358T>C | CA35862035 | ASPM | n.2954A>G c.9667A>G (p.Lys3223Glu) c.9889A>G (p.Lys3297Glu) c.9643A>G (p.Lys3215Glu) c.4912A>G (p.Lys1638Glu) c.2662A>G (p.Lys888Glu) c.3625A>G (p.Lys1209Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090358T>G | CA344001999 | ASPM | n.2954A>C c.9667A>C (p.Lys3223Gln) c.9889A>C (p.Lys3297Gln) c.9643A>C (p.Lys3215Gln) c.4912A>C (p.Lys1638Gln) c.2662A>C (p.Lys888Gln) c.3625A>C (p.Lys1209Gln) | |
1 | g.197090358T= | CA1217925327 | ASPM | n.2954A= c.9667A= (p.Lys3223=) c.9889A= (p.Lys3297=) c.9643A= (p.Lys3215=) c.4912A= (p.Lys1638=) c.2662A= (p.Lys888=) c.3625A= (p.Lys1209=) | |
1 | g.197090359del | CA2537186780 | ASPM | n.2953del c.9666del (p.Asn3224MetfsTer11) c.9888del (p.Asn3298MetfsTer11) c.9642del (p.Asn3216MetfsTer11) c.4911del (p.Asn1639MetfsTer11) c.2661del (p.Asn889MetfsTer11) c.3624del (p.Asn1210MetfsTer11) | |
1 | g.197090359C>A | CA344002001 | ASPM | n.2953G>T c.9666G>T (p.Lys3222Asn) c.9888G>T (p.Lys3296Asn) c.9642G>T (p.Lys3214Asn) c.4911G>T (p.Lys1637Asn) c.2661G>T (p.Lys887Asn) c.3624G>T (p.Lys1208Asn) | |
1 | g.197090359C= | CA1217925328 | ASPM | n.2953G= c.9666G= (p.Lys3222=) c.9888G= (p.Lys3296=) c.9642G= (p.Lys3214=) c.4911G= (p.Lys1637=) c.2661G= (p.Lys887=) c.3624G= (p.Lys1208=) | |
1 | g.197090359C>G | CA344002003 | ASPM | n.2953G>C c.9666G>C (p.Lys3222Asn) c.9888G>C (p.Lys3296Asn) c.9642G>C (p.Lys3214Asn) c.4911G>C (p.Lys1637Asn) c.2661G>C (p.Lys887Asn) c.3624G>C (p.Lys1208Asn) | |
1 | g.197090359C>T | CA35862038 | ASPM | n.2953G>A c.9666G>A (p.Lys3222=) c.9888G>A (p.Lys3296=) c.9642G>A (p.Lys3214=) c.4911G>A (p.Lys1637=) c.2661G>A (p.Lys887=) c.3624G>A (p.Lys1208=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090360T>A | CA344002006 | ASPM | n.2952A>T c.9665A>T (p.Lys3222Met) c.9887A>T (p.Lys3296Met) c.9641A>T (p.Lys3214Met) c.4910A>T (p.Lys1637Met) c.2660A>T (p.Lys887Met) c.3623A>T (p.Lys1208Met) | |
1 | g.197090360T>C | CA344002008 | ASPM | n.2952A>G c.9665A>G (p.Lys3222Arg) c.9887A>G (p.Lys3296Arg) c.9641A>G (p.Lys3214Arg) c.4910A>G (p.Lys1637Arg) c.2660A>G (p.Lys887Arg) c.3623A>G (p.Lys1208Arg) | |
1 | g.197090360T>G | CA344002011 | ASPM | n.2952A>C c.9665A>C (p.Lys3222Thr) c.9887A>C (p.Lys3296Thr) c.9641A>C (p.Lys3214Thr) c.4910A>C (p.Lys1637Thr) c.2660A>C (p.Lys887Thr) c.3623A>C (p.Lys1208Thr) | |
1 | g.197090360_197090363delinsTTCC | CA1217925329 | ASPM | n.2949_2952delinsGGAA c.9662_9665delinsGGAA (p.Arg3221=) c.9884_9887delinsGGAA (p.Arg3295=) c.9638_9641delinsGGAA (p.Arg3213=) c.4907_4910delinsGGAA (p.Arg1636=) c.2657_2660delinsGGAA (p.Arg886=) c.3620_3623delinsGGAA (p.Arg1207=) | |
1 | g.197090360_197090361insAAATA | CA2560292154 | ASPM | n.2951_2952insTATTT c.9664_9665insTATTT (p.Lys3222IlefsTer15) c.9886_9887insTATTT (p.Lys3296IlefsTer15) c.9640_9641insTATTT (p.Lys3214IlefsTer15) c.4909_4910insTATTT (p.Lys1637IlefsTer15) c.2659_2660insTATTT (p.Lys887IlefsTer15) c.3622_3623insTATTT (p.Lys1208IlefsTer15) | |
1 | g.197090361T>A | CA344002020 | ASPM | n.2951A>T c.9664A>T (p.Lys3222Ter) c.9886A>T (p.Lys3296Ter) c.9640A>T (p.Lys3214Ter) c.4909A>T (p.Lys1637Ter) c.2659A>T (p.Lys887Ter) c.3622A>T (p.Lys1208Ter) | |
1 | g.197090361T>C | CA344002018 | ASPM | n.2951A>G c.9664A>G (p.Lys3222Glu) c.9886A>G (p.Lys3296Glu) c.9640A>G (p.Lys3214Glu) c.4909A>G (p.Lys1637Glu) c.2659A>G (p.Lys887Glu) c.3622A>G (p.Lys1208Glu) | gnomAD v4 |
1 | g.197090361T>G | CA344002016 | ASPM | n.2951A>C c.9664A>C (p.Lys3222Gln) c.9886A>C (p.Lys3296Gln) c.9640A>C (p.Lys3214Gln) c.4909A>C (p.Lys1637Gln) c.2659A>C (p.Lys887Gln) c.3622A>C (p.Lys1208Gln) | |
1 | g.197090364_197090366del | CA1308883 | ASPM | n.2949_2951del c.9662_9664del (p.Arg3221del) c.9884_9886del (p.Arg3295del) c.9638_9640del (p.Arg3213del) c.4907_4909del (p.Arg1636del) c.2657_2659del (p.Arg886del) c.3620_3622del (p.Arg1207del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090362C>A | CA344002023 | ASPM | n.2950G>T c.9663G>T (p.Arg3221Ser) c.9885G>T (p.Arg3295Ser) c.9639G>T (p.Arg3213Ser) c.4908G>T (p.Arg1636Ser) c.2658G>T (p.Arg886Ser) c.3621G>T (p.Arg1207Ser) | |
1 | g.197090362C>G | CA344002025 | ASPM | n.2950G>C c.9663G>C (p.Arg3221Ser) c.9885G>C (p.Arg3295Ser) c.9639G>C (p.Arg3213Ser) c.4908G>C (p.Arg1636Ser) c.2658G>C (p.Arg886Ser) c.3621G>C (p.Arg1207Ser) | |
1 | g.197090362C>T | CA422672355 | ASPM | n.2950G>A c.9663G>A (p.Arg3221=) c.9885G>A (p.Arg3295=) c.9639G>A (p.Arg3213=) c.4908G>A (p.Arg1636=) c.2658G>A (p.Arg886=) c.3621G>A (p.Arg1207=) | gnomAD v4 |
1 | g.197090363C>A | CA344002027 | ASPM | n.2949G>T c.9662G>T (p.Arg3221Met) c.9884G>T (p.Arg3295Met) c.9638G>T (p.Arg3213Met) c.4907G>T (p.Arg1636Met) c.2657G>T (p.Arg886Met) c.3620G>T (p.Arg1207Met) | |
1 | g.197090363C= | CA1148224800 | ASPM | n.2949G= c.9662G= (p.Arg3221=) c.9884G= (p.Arg3295=) c.9638G= (p.Arg3213=) c.4907G= (p.Arg1636=) c.2657G= (p.Arg886=) c.3620G= (p.Arg1207=) | |
1 | g.197090363C>G | CA344002029 | ASPM | n.2949G>C c.9662G>C (p.Arg3221Thr) c.9884G>C (p.Arg3295Thr) c.9638G>C (p.Arg3213Thr) c.4907G>C (p.Arg1636Thr) c.2657G>C (p.Arg886Thr) c.3620G>C (p.Arg1207Thr) | |
1 | g.197090363C>T | CA271155 | ASPM | n.2949G>A c.9662G>A (p.Arg3221Lys) c.9884G>A (p.Arg3295Lys) c.9638G>A (p.Arg3213Lys) c.4907G>A (p.Arg1636Lys) c.2657G>A (p.Arg886Lys) c.3620G>A (p.Arg1207Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.197090364T>A | CA344002036 | ASPM | n.2948A>T c.9661A>T (p.Arg3221Trp) c.9883A>T (p.Arg3295Trp) c.9637A>T (p.Arg3213Trp) c.4906A>T (p.Arg1636Trp) c.2656A>T (p.Arg886Trp) c.3619A>T (p.Arg1207Trp) | |
1 | g.197090364T>C | CA344002034 | ASPM | n.2948A>G c.9661A>G (p.Arg3221Gly) c.9883A>G (p.Arg3295Gly) c.9637A>G (p.Arg3213Gly) c.4906A>G (p.Arg1636Gly) c.2656A>G (p.Arg886Gly) c.3619A>G (p.Arg1207Gly) | |
1 | g.197090364T>G | CA422672359 | ASPM | n.2948A>C c.9661A>C (p.Arg3221=) c.9883A>C (p.Arg3295=) c.9637A>C (p.Arg3213=) c.4906A>C (p.Arg1636=) c.2656A>C (p.Arg886=) c.3619A>C (p.Arg1207=) | |
1 | g.197090365C>A | CA344002039 | ASPM | n.2947G>T c.9660G>T (p.Trp3220Cys) c.9882G>T (p.Trp3294Cys) c.9636G>T (p.Trp3212Cys) c.4905G>T (p.Trp1635Cys) c.2655G>T (p.Trp885Cys) c.3618G>T (p.Trp1206Cys) | COSMIC |
1 | g.197090365C>G | CA344002041 | ASPM | n.2947G>C c.9660G>C (p.Trp3220Cys) c.9882G>C (p.Trp3294Cys) c.9636G>C (p.Trp3212Cys) c.4905G>C (p.Trp1635Cys) c.2655G>C (p.Trp885Cys) c.3618G>C (p.Trp1206Cys) | |
1 | g.197090365C>T | CA344002043 | ASPM | n.2947G>A c.9660G>A (p.Trp3220Ter) c.9882G>A (p.Trp3294Ter) c.9636G>A (p.Trp3212Ter) c.4905G>A (p.Trp1635Ter) c.2655G>A (p.Trp885Ter) c.3618G>A (p.Trp1206Ter) | |
1 | g.197090366C>A | CA35862040 | ASPM | n.2946G>T c.9659G>T (p.Trp3220Leu) c.9881G>T (p.Trp3294Leu) c.9635G>T (p.Trp3212Leu) c.4904G>T (p.Trp1635Leu) c.2654G>T (p.Trp885Leu) c.3617G>T (p.Trp1206Leu) | dbSNP |
1 | g.197090366C= | CA1141042162 | ASPM | n.2946G= c.9659G= (p.Trp3220=) c.9881G= (p.Trp3294=) c.9635G= (p.Trp3212=) c.4904G= (p.Trp1635=) c.2654G= (p.Trp885=) c.3617G= (p.Trp1206=) | |
1 | g.197090366C>G | CA344002044 | ASPM | n.2946G>C c.9659G>C (p.Trp3220Ser) c.9881G>C (p.Trp3294Ser) c.9635G>C (p.Trp3212Ser) c.4904G>C (p.Trp1635Ser) c.2654G>C (p.Trp885Ser) c.3617G>C (p.Trp1206Ser) | |
1 | g.197090366C>T | CA1308884 | ASPM | n.2946G>A c.9659G>A (p.Trp3220Ter) c.9881G>A (p.Trp3294Ter) c.9635G>A (p.Trp3212Ter) c.4904G>A (p.Trp1635Ter) c.2654G>A (p.Trp885Ter) c.3617G>A (p.Trp1206Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090367A>C | CA344002053 | ASPM | n.2945T>G c.9658T>G (p.Trp3220Gly) c.9880T>G (p.Trp3294Gly) c.9634T>G (p.Trp3212Gly) c.4903T>G (p.Trp1635Gly) c.2653T>G (p.Trp885Gly) c.3616T>G (p.Trp1206Gly) | |
1 | g.197090367A>G | CA344002048 | ASPM | n.2945T>C c.9658T>C (p.Trp3220Arg) c.9880T>C (p.Trp3294Arg) c.9634T>C (p.Trp3212Arg) c.4903T>C (p.Trp1635Arg) c.2653T>C (p.Trp885Arg) c.3616T>C (p.Trp1206Arg) | |
1 | g.197090367A>T | CA344002052 | ASPM | n.2945T>A c.9658T>A (p.Trp3220Arg) c.9880T>A (p.Trp3294Arg) c.9634T>A (p.Trp3212Arg) c.4903T>A (p.Trp1635Arg) c.2653T>A (p.Trp885Arg) c.3616T>A (p.Trp1206Arg) | |
1 | g.197090368A= | CA1217925335 | ASPM | n.2944T= c.9657T= (p.Ser3219=) c.9879T= (p.Ser3293=) c.9633T= (p.Ser3211=) c.4902T= (p.Ser1634=) c.2652T= (p.Ser884=) c.3615T= (p.Ser1205=) | |
1 | g.197090368A>C | CA1308885 | ASPM | n.2944T>G c.9657T>G (p.Ser3219=) c.9879T>G (p.Ser3293=) c.9633T>G (p.Ser3211=) c.4902T>G (p.Ser1634=) c.2652T>G (p.Ser884=) c.3615T>G (p.Ser1205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090368A>G | CA422672362 | ASPM | n.2944T>C c.9657T>C (p.Ser3219=) c.9879T>C (p.Ser3293=) c.9633T>C (p.Ser3211=) c.4902T>C (p.Ser1634=) c.2652T>C (p.Ser884=) c.3615T>C (p.Ser1205=) | |
1 | g.197090368A>T | CA422672361 | ASPM | n.2944T>A c.9657T>A (p.Ser3219=) c.9879T>A (p.Ser3293=) c.9633T>A (p.Ser3211=) c.4902T>A (p.Ser1634=) c.2652T>A (p.Ser884=) c.3615T>A (p.Ser1205=) | |
1 | g.197090369G>A | CA344002056 | ASPM | n.2943C>T c.9656C>T (p.Ser3219Phe) c.9878C>T (p.Ser3293Phe) c.9632C>T (p.Ser3211Phe) c.4901C>T (p.Ser1634Phe) c.2651C>T (p.Ser884Phe) c.3614C>T (p.Ser1205Phe) | |
1 | g.197090369G>C | CA344002057 | ASPM | n.2943C>G c.9656C>G (p.Ser3219Cys) c.9878C>G (p.Ser3293Cys) c.9632C>G (p.Ser3211Cys) c.4901C>G (p.Ser1634Cys) c.2651C>G (p.Ser884Cys) c.3614C>G (p.Ser1205Cys) | |
1 | g.197090369G>T | CA344002060 | ASPM | n.2943C>A c.9656C>A (p.Ser3219Tyr) c.9878C>A (p.Ser3293Tyr) c.9632C>A (p.Ser3211Tyr) c.4901C>A (p.Ser1634Tyr) c.2651C>A (p.Ser884Tyr) c.3614C>A (p.Ser1205Tyr) | |
1 | g.197090370A>C | CA344002063 | ASPM | n.2942T>G c.9655T>G (p.Ser3219Ala) c.9877T>G (p.Ser3293Ala) c.9631T>G (p.Ser3211Ala) c.4900T>G (p.Ser1634Ala) c.2650T>G (p.Ser884Ala) c.3613T>G (p.Ser1205Ala) | |
1 | g.197090370A>G | CA344002066 | ASPM | n.2942T>C c.9655T>C (p.Ser3219Pro) c.9877T>C (p.Ser3293Pro) c.9631T>C (p.Ser3211Pro) c.4900T>C (p.Ser1634Pro) c.2650T>C (p.Ser884Pro) c.3613T>C (p.Ser1205Pro) | |
1 | g.197090370A>T | CA344002071 | ASPM | n.2942T>A c.9655T>A (p.Ser3219Thr) c.9877T>A (p.Ser3293Thr) c.9631T>A (p.Ser3211Thr) c.4900T>A (p.Ser1634Thr) c.2650T>A (p.Ser884Thr) c.3613T>A (p.Ser1205Thr) | |
1 | g.197090371A>C | CA344002074 | ASPM | n.2941T>G c.9654T>G (p.Tyr3218Ter) c.9876T>G (p.Tyr3292Ter) c.9630T>G (p.Tyr3210Ter) c.4899T>G (p.Tyr1633Ter) c.2649T>G (p.Tyr883Ter) c.3612T>G (p.Tyr1204Ter) | |
1 | g.197090371A>G | CA422672364 | ASPM | n.2941T>C c.9654T>C (p.Tyr3218=) c.9876T>C (p.Tyr3292=) c.9630T>C (p.Tyr3210=) c.4899T>C (p.Tyr1633=) c.2649T>C (p.Tyr883=) c.3612T>C (p.Tyr1204=) | |
1 | g.197090371A>T | CA344002076 | ASPM | n.2941T>A c.9654T>A (p.Tyr3218Ter) c.9876T>A (p.Tyr3292Ter) c.9630T>A (p.Tyr3210Ter) c.4899T>A (p.Tyr1633Ter) c.2649T>A (p.Tyr883Ter) c.3612T>A (p.Tyr1204Ter) | |
1 | g.197090372T>A | CA344002079 | ASPM | n.2940A>T c.9653A>T (p.Tyr3218Phe) c.9875A>T (p.Tyr3292Phe) c.9629A>T (p.Tyr3210Phe) c.4898A>T (p.Tyr1633Phe) c.2648A>T (p.Tyr883Phe) c.3611A>T (p.Tyr1204Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090372T>C | CA344002082 | ASPM | n.2940A>G c.9653A>G (p.Tyr3218Cys) c.9875A>G (p.Tyr3292Cys) c.9629A>G (p.Tyr3210Cys) c.4898A>G (p.Tyr1633Cys) c.2648A>G (p.Tyr883Cys) c.3611A>G (p.Tyr1204Cys) | |
1 | g.197090372T>G | CA344002085 | ASPM | n.2940A>C c.9653A>C (p.Tyr3218Ser) c.9875A>C (p.Tyr3292Ser) c.9629A>C (p.Tyr3210Ser) c.4898A>C (p.Tyr1633Ser) c.2648A>C (p.Tyr883Ser) c.3611A>C (p.Tyr1204Ser) | |
1 | g.197090372T= | CA1217925337 | ASPM | n.2940A= c.9653A= (p.Tyr3218=) c.9875A= (p.Tyr3292=) c.9629A= (p.Tyr3210=) c.4898A= (p.Tyr1633=) c.2648A= (p.Tyr883=) c.3611A= (p.Tyr1204=) | |
1 | g.197090373A= | CA1148255483 | ASPM | n.2939T= c.9652T= (p.Tyr3218=) c.9874T= (p.Tyr3292=) c.9628T= (p.Tyr3210=) c.4897T= (p.Tyr1633=) c.2647T= (p.Tyr883=) c.3610T= (p.Tyr1204=) | |
1 | g.197090373A>C | CA344002092 | ASPM | n.2939T>G c.9652T>G (p.Tyr3218Asp) c.9874T>G (p.Tyr3292Asp) c.9628T>G (p.Tyr3210Asp) c.4897T>G (p.Tyr1633Asp) c.2647T>G (p.Tyr883Asp) c.3610T>G (p.Tyr1204Asp) | |
1 | g.197090373A>G | CA1308886 | ASPM | n.2939T>C c.9652T>C (p.Tyr3218His) c.9874T>C (p.Tyr3292His) c.9628T>C (p.Tyr3210His) c.4897T>C (p.Tyr1633His) c.2647T>C (p.Tyr883His) c.3610T>C (p.Tyr1204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090373A>T | CA344002089 | ASPM | n.2939T>A c.9652T>A (p.Tyr3218Asn) c.9874T>A (p.Tyr3292Asn) c.9628T>A (p.Tyr3210Asn) c.4897T>A (p.Tyr1633Asn) c.2647T>A (p.Tyr883Asn) c.3610T>A (p.Tyr1204Asn) | |
1 | g.197090373_197090374insTCTT | CA2570154967 | ASPM | n.2938_2939insAAGA c.9651_9652insAAGA (p.Tyr3218LysfsTer9) c.9873_9874insAAGA (p.Tyr3292LysfsTer9) c.9627_9628insAAGA (p.Tyr3210LysfsTer9) c.4896_4897insAAGA (p.Tyr1633LysfsTer9) c.2646_2647insAAGA (p.Tyr883LysfsTer9) c.3609_3610insAAGA (p.Tyr1204LysfsTer9) | |
1 | g.197090374G>A | CA422672368 | ASPM | n.2938C>T c.9651C>T (p.Gly3217=) c.9873C>T (p.Gly3291=) c.9627C>T (p.Gly3209=) c.4896C>T (p.Gly1632=) c.2646C>T (p.Gly882=) c.3609C>T (p.Gly1203=) | |
1 | g.197090374G>C | CA422672367 | ASPM | n.2938C>G c.9651C>G (p.Gly3217=) c.9873C>G (p.Gly3291=) c.9627C>G (p.Gly3209=) c.4896C>G (p.Gly1632=) c.2646C>G (p.Gly882=) c.3609C>G (p.Gly1203=) | |
1 | g.197090374G= | CA1217925338 | ASPM | n.2938C= c.9651C= (p.Gly3217=) c.9873C= (p.Gly3291=) c.9627C= (p.Gly3209=) c.4896C= (p.Gly1632=) c.2646C= (p.Gly882=) c.3609C= (p.Gly1203=) | |
1 | g.197090374G>T | CA422672366 | ASPM | n.2938C>A c.9651C>A (p.Gly3217=) c.9873C>A (p.Gly3291=) c.9627C>A (p.Gly3209=) c.4896C>A (p.Gly1632=) c.2646C>A (p.Gly882=) c.3609C>A (p.Gly1203=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090374_197090375insTACACTA | CA2536796341 | ASPM | n.2937_2938insTAGTGTA c.9650_9651insTAGTGTA (p.Tyr3218SerfsTer10) c.9872_9873insTAGTGTA (p.Tyr3292SerfsTer10) c.9626_9627insTAGTGTA (p.Tyr3210SerfsTer10) c.4895_4896insTAGTGTA (p.Tyr1633SerfsTer10) c.2645_2646insTAGTGTA (p.Tyr883SerfsTer10) c.3608_3609insTAGTGTA (p.Tyr1204SerfsTer10) | |
1 | g.197090375C>A | CA344002095 | ASPM | n.2937G>T c.9650G>T (p.Gly3217Val) c.9872G>T (p.Gly3291Val) c.9626G>T (p.Gly3209Val) c.4895G>T (p.Gly1632Val) c.2645G>T (p.Gly882Val) c.3608G>T (p.Gly1203Val) | |
1 | g.197090375C= | CA1217925340 | ASPM | n.2937G= c.9650G= (p.Gly3217=) c.9872G= (p.Gly3291=) c.9626G= (p.Gly3209=) c.4895G= (p.Gly1632=) c.2645G= (p.Gly882=) c.3608G= (p.Gly1203=) | |
1 | g.197090375C>G | CA344002098 | ASPM | n.2937G>C c.9650G>C (p.Gly3217Ala) c.9872G>C (p.Gly3291Ala) c.9626G>C (p.Gly3209Ala) c.4895G>C (p.Gly1632Ala) c.2645G>C (p.Gly882Ala) c.3608G>C (p.Gly1203Ala) | |
1 | g.197090375C>T | CA344002097 | ASPM | n.2937G>A c.9650G>A (p.Gly3217Asp) c.9872G>A (p.Gly3291Asp) c.9626G>A (p.Gly3209Asp) c.4895G>A (p.Gly1632Asp) c.2645G>A (p.Gly882Asp) c.3608G>A (p.Gly1203Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090376C>A | CA344002101 | ASPM | n.2936G>T c.9649G>T (p.Gly3217Cys) c.9871G>T (p.Gly3291Cys) c.9625G>T (p.Gly3209Cys) c.4894G>T (p.Gly1632Cys) c.2644G>T (p.Gly882Cys) c.3607G>T (p.Gly1203Cys) | |
1 | g.197090376C>G | CA344002104 | ASPM | n.2936G>C c.9649G>C (p.Gly3217Arg) c.9871G>C (p.Gly3291Arg) c.9625G>C (p.Gly3209Arg) c.4894G>C (p.Gly1632Arg) c.2644G>C (p.Gly882Arg) c.3607G>C (p.Gly1203Arg) | |
1 | g.197090376C>T | CA344002103 | ASPM | n.2936G>A c.9649G>A (p.Gly3217Ser) c.9871G>A (p.Gly3291Ser) c.9625G>A (p.Gly3209Ser) c.4894G>A (p.Gly1632Ser) c.2644G>A (p.Gly882Ser) c.3607G>A (p.Gly1203Ser) | |
1 | g.197090377T>A | CA344002105 | ASPM | n.2935A>T c.9648A>T (p.Arg3216Ser) c.9870A>T (p.Arg3290Ser) c.9624A>T (p.Arg3208Ser) c.4893A>T (p.Arg1631Ser) c.2643A>T (p.Arg881Ser) c.3606A>T (p.Arg1202Ser) | |
1 | g.197090377T>C | CA422672371 | ASPM | n.2935A>G c.9648A>G (p.Arg3216=) c.9870A>G (p.Arg3290=) c.9624A>G (p.Arg3208=) c.4893A>G (p.Arg1631=) c.2643A>G (p.Arg881=) c.3606A>G (p.Arg1202=) | gnomAD v4 |
1 | g.197090377T>G | CA344002106 | ASPM | n.2935A>C c.9648A>C (p.Arg3216Ser) c.9870A>C (p.Arg3290Ser) c.9624A>C (p.Arg3208Ser) c.4893A>C (p.Arg1631Ser) c.2643A>C (p.Arg881Ser) c.3606A>C (p.Arg1202Ser) | |
1 | g.197090377_197090378insAAA | CA2519024568 | ASPM | n.2934_2935insTTT c.9647_9648insTTT (p.Arg3216delinsSerLeu) c.9869_9870insTTT (p.Arg3290delinsSerLeu) c.9623_9624insTTT (p.Arg3208delinsSerLeu) c.4892_4893insTTT (p.Arg1631delinsSerLeu) c.2642_2643insTTT (p.Arg881delinsSerLeu) c.3605_3606insTTT (p.Arg1202delinsSerLeu) | |
1 | g.197090378C>A | CA344002108 | ASPM | n.2934G>T c.9647G>T (p.Arg3216Ile) c.9869G>T (p.Arg3290Ile) c.9623G>T (p.Arg3208Ile) c.4892G>T (p.Arg1631Ile) c.2642G>T (p.Arg881Ile) c.3605G>T (p.Arg1202Ile) | dbSNP |
1 | g.197090378C= | CA1144133353 | ASPM | n.2934G= c.9647G= (p.Arg3216=) c.9869G= (p.Arg3290=) c.9623G= (p.Arg3208=) c.4892G= (p.Arg1631=) c.2642G= (p.Arg881=) c.3605G= (p.Arg1202=) | |
1 | g.197090378C>G | CA344002110 | ASPM | n.2934G>C c.9647G>C (p.Arg3216Thr) c.9869G>C (p.Arg3290Thr) c.9623G>C (p.Arg3208Thr) c.4892G>C (p.Arg1631Thr) c.2642G>C (p.Arg881Thr) c.3605G>C (p.Arg1202Thr) | |
1 | g.197090378C>T | CA1308887 | ASPM | n.2934G>A c.9647G>A (p.Arg3216Lys) c.9869G>A (p.Arg3290Lys) c.9623G>A (p.Arg3208Lys) c.4892G>A (p.Arg1631Lys) c.2642G>A (p.Arg881Lys) c.3605G>A (p.Arg1202Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090379T>A | CA344002112 | ASPM | n.2933A>T c.9646A>T (p.Arg3216Ter) c.9868A>T (p.Arg3290Ter) c.9622A>T (p.Arg3208Ter) c.4891A>T (p.Arg1631Ter) c.2641A>T (p.Arg881Ter) c.3604A>T (p.Arg1202Ter) | |
1 | g.197090379T>C | CA344002113 | ASPM | n.2933A>G c.9646A>G (p.Arg3216Gly) c.9868A>G (p.Arg3290Gly) c.9622A>G (p.Arg3208Gly) c.4891A>G (p.Arg1631Gly) c.2641A>G (p.Arg881Gly) c.3604A>G (p.Arg1202Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.197090379T>G | CA422672372 | ASPM | n.2933A>C c.9646A>C (p.Arg3216=) c.9868A>C (p.Arg3290=) c.9622A>C (p.Arg3208=) c.4891A>C (p.Arg1631=) c.2641A>C (p.Arg881=) c.3604A>C (p.Arg1202=) | |
1 | g.197090379T= | CA1217925343 | ASPM | n.2933A= c.9646A= (p.Arg3216=) c.9868A= (p.Arg3290=) c.9622A= (p.Arg3208=) c.4891A= (p.Arg1631=) c.2641A= (p.Arg881=) c.3604A= (p.Arg1202=) | |
1 | g.197090380C>A | CA344002114 | ASPM | n.2932G>T c.9645G>T (p.Trp3215Cys) c.9867G>T (p.Trp3289Cys) c.9621G>T (p.Trp3207Cys) c.4890G>T (p.Trp1630Cys) c.2640G>T (p.Trp880Cys) c.3603G>T (p.Trp1201Cys) | gnomAD v4 |
1 | g.197090380C= | CA1217925345 | ASPM | n.2932G= c.9645G= (p.Trp3215=) c.9867G= (p.Trp3289=) c.9621G= (p.Trp3207=) c.4890G= (p.Trp1630=) c.2640G= (p.Trp880=) c.3603G= (p.Trp1201=) | |
1 | g.197090380C>G | CA344002115 | ASPM | n.2932G>C c.9645G>C (p.Trp3215Cys) c.9867G>C (p.Trp3289Cys) c.9621G>C (p.Trp3207Cys) c.4890G>C (p.Trp1630Cys) c.2640G>C (p.Trp880Cys) c.3603G>C (p.Trp1201Cys) | gnomAD v4 |
1 | g.197090380C>T | CA344002118 | ASPM | n.2932G>A c.9645G>A (p.Trp3215Ter) c.9867G>A (p.Trp3289Ter) c.9621G>A (p.Trp3207Ter) c.4890G>A (p.Trp1630Ter) c.2640G>A (p.Trp880Ter) c.3603G>A (p.Trp1201Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.197090381C>A | CA344002122 | ASPM | n.2931G>T c.9644G>T (p.Trp3215Leu) c.9866G>T (p.Trp3289Leu) c.9620G>T (p.Trp3207Leu) c.4889G>T (p.Trp1630Leu) c.2639G>T (p.Trp880Leu) c.3602G>T (p.Trp1201Leu) | |
1 | g.197090381C>G | CA344002121 | ASPM | n.2931G>C c.9644G>C (p.Trp3215Ser) c.9866G>C (p.Trp3289Ser) c.9620G>C (p.Trp3207Ser) c.4889G>C (p.Trp1630Ser) c.2639G>C (p.Trp880Ser) c.3602G>C (p.Trp1201Ser) | |
1 | g.197090381C>T | CA344002120 | ASPM | n.2931G>A c.9644G>A (p.Trp3215Ter) c.9866G>A (p.Trp3289Ter) c.9620G>A (p.Trp3207Ter) c.4889G>A (p.Trp1630Ter) c.2639G>A (p.Trp880Ter) c.3602G>A (p.Trp1201Ter) | |
1 | g.197090382A>C | CA344002125 | ASPM | n.2930T>G c.9643T>G (p.Trp3215Gly) c.9865T>G (p.Trp3289Gly) c.9619T>G (p.Trp3207Gly) c.4888T>G (p.Trp1630Gly) c.2638T>G (p.Trp880Gly) c.3601T>G (p.Trp1201Gly) | gnomAD v4 |
1 | g.197090382A>G | CA344002127 | ASPM | n.2930T>C c.9643T>C (p.Trp3215Arg) c.9865T>C (p.Trp3289Arg) c.9619T>C (p.Trp3207Arg) c.4888T>C (p.Trp1630Arg) c.2638T>C (p.Trp880Arg) c.3601T>C (p.Trp1201Arg) | gnomAD v4 |
1 | g.197090382A>T | CA344002130 | ASPM | n.2930T>A c.9643T>A (p.Trp3215Arg) c.9865T>A (p.Trp3289Arg) c.9619T>A (p.Trp3207Arg) c.4888T>A (p.Trp1630Arg) c.2638T>A (p.Trp880Arg) c.3601T>A (p.Trp1201Arg) | |
1 | g.197090384_197090386del | CA2573973469 | ASPM | n.2928_2930del c.9641_9643del (p.Leu3214del) c.9863_9865del (p.Leu3288del) c.9617_9619del (p.Leu3206del) c.4886_4888del (p.Leu1629del) c.2636_2638del (p.Leu879del) c.3599_3601del (p.Leu1200del) | |
1 | g.197090382_197090383insATCTCTTC | CA2531232883 | ASPM | n.2929_2930insGAAGAGAT c.9642_9643insGAAGAGAT (p.Trp3215GlufsTer23) c.9864_9865insGAAGAGAT (p.Trp3289GlufsTer23) c.9618_9619insGAAGAGAT (p.Trp3207GlufsTer23) c.4887_4888insGAAGAGAT (p.Trp1630GlufsTer23) c.2637_2638insGAAGAGAT (p.Trp880GlufsTer23) c.3600_3601insGAAGAGAT (p.Trp1201GlufsTer23) | |
1 | g.197090383T>A | CA344002133 | ASPM | n.2929A>T c.9642A>T (p.Leu3214Phe) c.9864A>T (p.Leu3288Phe) c.9618A>T (p.Leu3206Phe) c.4887A>T (p.Leu1629Phe) c.2637A>T (p.Leu879Phe) c.3600A>T (p.Leu1200Phe) | |
1 | g.197090383T>C | CA1308888 | ASPM | n.2929A>G c.9642A>G (p.Leu3214=) c.9864A>G (p.Leu3288=) c.9618A>G (p.Leu3206=) c.4887A>G (p.Leu1629=) c.2637A>G (p.Leu879=) c.3600A>G (p.Leu1200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090383T>G | CA344002134 | ASPM | n.2929A>C c.9642A>C (p.Leu3214Phe) c.9864A>C (p.Leu3288Phe) c.9618A>C (p.Leu3206Phe) c.4887A>C (p.Leu1629Phe) c.2637A>C (p.Leu879Phe) c.3600A>C (p.Leu1200Phe) | |
1 | g.197090383T= | CA1217925347 | ASPM | n.2929A= c.9642A= (p.Leu3214=) c.9864A= (p.Leu3288=) c.9618A= (p.Leu3206=) c.4887A= (p.Leu1629=) c.2637A= (p.Leu879=) c.3600A= (p.Leu1200=) | |
1 | g.197090384A= | CA1143613707 | ASPM | n.2928T= c.9641T= (p.Leu3214=) c.9863T= (p.Leu3288=) c.9617T= (p.Leu3206=) c.4886T= (p.Leu1629=) c.2636T= (p.Leu879=) c.3599T= (p.Leu1200=) | |
1 | g.197090384A>C | CA344002136 | ASPM | n.2928T>G c.9641T>G (p.Leu3214Ter) c.9863T>G (p.Leu3288Ter) c.9617T>G (p.Leu3206Ter) c.4886T>G (p.Leu1629Ter) c.2636T>G (p.Leu879Ter) c.3599T>G (p.Leu1200Ter) | |
1 | g.197090384A>G | CA1308889 | ASPM | n.2928T>C c.9641T>C (p.Leu3214Ser) c.9863T>C (p.Leu3288Ser) c.9617T>C (p.Leu3206Ser) c.4886T>C (p.Leu1629Ser) c.2636T>C (p.Leu879Ser) c.3599T>C (p.Leu1200Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090384A>T | CA344002139 | ASPM | n.2928T>A c.9641T>A (p.Leu3214Ter) c.9863T>A (p.Leu3288Ter) c.9617T>A (p.Leu3206Ter) c.4886T>A (p.Leu1629Ter) c.2636T>A (p.Leu879Ter) c.3599T>A (p.Leu1200Ter) | ClinVar dbSNP |
1 | g.197090385A>C | CA344002141 | ASPM | n.2927T>G c.9640T>G (p.Leu3214Val) c.9862T>G (p.Leu3288Val) c.9616T>G (p.Leu3206Val) c.4885T>G (p.Leu1629Val) c.2635T>G (p.Leu879Val) c.3598T>G (p.Leu1200Val) | |
1 | g.197090385A>G | CA422672378 | ASPM | n.2927T>C c.9640T>C (p.Leu3214=) c.9862T>C (p.Leu3288=) c.9616T>C (p.Leu3206=) c.4885T>C (p.Leu1629=) c.2635T>C (p.Leu879=) c.3598T>C (p.Leu1200=) | gnomAD v4 |
1 | g.197090385A>T | CA344002153 | ASPM | n.2927T>A c.9640T>A (p.Leu3214Ile) c.9862T>A (p.Leu3288Ile) c.9616T>A (p.Leu3206Ile) c.4885T>A (p.Leu1629Ile) c.2635T>A (p.Leu879Ile) c.3598T>A (p.Leu1200Ile) | |
1 | g.197090386T>A | CA422672379 | ASPM | n.2926A>T c.9639A>T (p.Ala3213=) c.9861A>T (p.Ala3287=) c.9615A>T (p.Ala3205=) c.4884A>T (p.Ala1628=) c.2634A>T (p.Ala878=) c.3597A>T (p.Ala1199=) | |
1 | g.197090386T>C | CA422672380 | ASPM | n.2926A>G c.9639A>G (p.Ala3213=) c.9861A>G (p.Ala3287=) c.9615A>G (p.Ala3205=) c.4884A>G (p.Ala1628=) c.2634A>G (p.Ala878=) c.3597A>G (p.Ala1199=) | gnomAD v4 |
1 | g.197090386T>G | CA422672381 | ASPM | n.2926A>C c.9639A>C (p.Ala3213=) c.9861A>C (p.Ala3287=) c.9615A>C (p.Ala3205=) c.4884A>C (p.Ala1628=) c.2634A>C (p.Ala878=) c.3597A>C (p.Ala1199=) | |
1 | g.197090387G>A | CA344002158 | ASPM | n.2925C>T c.9638C>T (p.Ala3213Val) c.9860C>T (p.Ala3287Val) c.9614C>T (p.Ala3205Val) c.4883C>T (p.Ala1628Val) c.2633C>T (p.Ala878Val) c.3596C>T (p.Ala1199Val) | gnomAD v4 COSMIC |
1 | g.197090387G>C | CA344002159 | ASPM | n.2925C>G c.9638C>G (p.Ala3213Gly) c.9860C>G (p.Ala3287Gly) c.9614C>G (p.Ala3205Gly) c.4883C>G (p.Ala1628Gly) c.2633C>G (p.Ala878Gly) c.3596C>G (p.Ala1199Gly) | |
1 | g.197090387G>T | CA344002157 | ASPM | n.2925C>A c.9638C>A (p.Ala3213Glu) c.9860C>A (p.Ala3287Glu) c.9614C>A (p.Ala3205Glu) c.4883C>A (p.Ala1628Glu) c.2633C>A (p.Ala878Glu) c.3596C>A (p.Ala1199Glu) | gnomAD v4 |
1 | g.197090387_197090388delinsGC | CA1217925350 | ASPM | n.2924_2925delinsGC c.9637_9638delinsGC (p.Ala3213=) c.9859_9860delinsGC (p.Ala3287=) c.9613_9614delinsGC (p.Ala3205=) c.4882_4883delinsGC (p.Ala1628=) c.2632_2633delinsGC (p.Ala878=) c.3595_3596delinsGC (p.Ala1199=) | |
1 | g.197090388C>A | CA344002160 | ASPM | n.2924G>T c.9637G>T (p.Ala3213Ser) c.9859G>T (p.Ala3287Ser) c.9613G>T (p.Ala3205Ser) c.4882G>T (p.Ala1628Ser) c.2632G>T (p.Ala878Ser) c.3595G>T (p.Ala1199Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090388C= | CA1217925352 | ASPM | n.2924G= c.9637G= (p.Ala3213=) c.9859G= (p.Ala3287=) c.9613G= (p.Ala3205=) c.4882G= (p.Ala1628=) c.2632G= (p.Ala878=) c.3595G= (p.Ala1199=) | |
1 | g.197090388C>G | CA1308890 | ASPM | n.2924G>C c.9637G>C (p.Ala3213Pro) c.9859G>C (p.Ala3287Pro) c.9613G>C (p.Ala3205Pro) c.4882G>C (p.Ala1628Pro) c.2632G>C (p.Ala878Pro) c.3595G>C (p.Ala1199Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090388C>T | CA344002163 | ASPM | n.2924G>A c.9637G>A (p.Ala3213Thr) c.9859G>A (p.Ala3287Thr) c.9613G>A (p.Ala3205Thr) c.4882G>A (p.Ala1628Thr) c.2632G>A (p.Ala878Thr) c.3595G>A (p.Ala1199Thr) | |
1 | g.197090389del | CA1010898341 | ASPM | n.2924del c.9637del c.9859del c.9613del c.4882del c.2632del c.3595del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090389C>A | CA344002165 | ASPM | n.2924-1G>T c.9637-1G>T (n.9637-1G>T) c.9859-1G>T (n.9859-1G>T) c.9613-1G>T (n.9613-1G>T) c.4882-1G>T (n.4882-1G>T) c.2632-1G>T (n.2632-1G>T) c.3595-1G>T (n.3595-1G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090389C= | CA1217925354 | ASPM | n.2924-1G= c.9637-1G= (n.9637-1G=) c.9859-1G= (n.9859-1G=) c.9613-1G= (n.9613-1G=) c.4882-1G= (n.4882-1G=) c.2632-1G= (n.2632-1G=) c.3595-1G= (n.3595-1G=) | |
1 | g.197090389C>G | CA344002167 | ASPM | n.2924-1G>C c.9637-1G>C (n.9637-1G>C) c.9859-1G>C (n.9859-1G>C) c.9613-1G>C (n.9613-1G>C) c.4882-1G>C (n.4882-1G>C) c.2632-1G>C (n.2632-1G>C) c.3595-1G>C (n.3595-1G>C) | |
1 | g.197090389C>T | CA344002169 | ASPM | n.2924-1G>A c.9637-1G>A (n.9637-1G>A) c.9859-1G>A (n.9859-1G>A) c.9613-1G>A (n.9613-1G>A) c.4882-1G>A (n.4882-1G>A) c.2632-1G>A (n.2632-1G>A) c.3595-1G>A (n.3595-1G>A) | gnomAD v4 |
1 | g.197090390T>A | CA344002171 | ASPM | n.2924-2A>T c.9637-2A>T (n.9637-2A>T) c.9859-2A>T (n.9859-2A>T) c.9613-2A>T (n.9613-2A>T) c.4882-2A>T (n.4882-2A>T) c.2632-2A>T (n.2632-2A>T) c.3595-2A>T (n.3595-2A>T) | |
1 | g.197090390T>C | CA344002174 | ASPM | n.2924-2A>G c.9637-2A>G (n.9637-2A>G) c.9859-2A>G (n.9859-2A>G) c.9613-2A>G (n.9613-2A>G) c.4882-2A>G (n.4882-2A>G) c.2632-2A>G (n.2632-2A>G) c.3595-2A>G (n.3595-2A>G) | gnomAD v4 |
1 | g.197090390T>G | CA344002176 | ASPM | n.2924-2A>C c.9637-2A>C (n.9637-2A>C) c.9859-2A>C (n.9859-2A>C) c.9613-2A>C (n.9613-2A>C) c.4882-2A>C (n.4882-2A>C) c.2632-2A>C (n.2632-2A>C) c.3595-2A>C (n.3595-2A>C) | |
1 | g.197090390_197090391insGAATTT | CA2747239573 | ASPM | n.2924-2_2924-1insAATTCA c.9637-2_9637-1insAATTCA (n.9637-2_9637-1insAATTCA) c.9859-2_9859-1insAATTCA (n.9859-2_9859-1insAATTCA) c.9613-2_9613-1insAATTCA (n.9613-2_9613-1insAATTCA) c.4882-2_4882-1insAATTCA (n.4882-2_4882-1insAATTCA) c.2632-2_2632-1insAATTCA (n.2632-2_2632-1insAATTCA) c.3595-2_3595-1insAATTCA (n.3595-2_3595-1insAATTCA) | |
1 | g.197090390_197090391insGAA | CA2747239574 | ASPM | n.2924-3_2924-2insTTC c.9637-3_9637-2insTTC (n.9637-3_9637-2insTTC) c.9859-3_9859-2insTTC (n.9859-3_9859-2insTTC) c.9613-3_9613-2insTTC (n.9613-3_9613-2insTTC) c.4882-3_4882-2insTTC (n.4882-3_4882-2insTTC) c.2632-3_2632-2insTTC (n.2632-3_2632-2insTTC) c.3595-3_3595-2insTTC (n.3595-3_3595-2insTTC) | |
1 | g.197090391_197090393delinsTAA | CA1217925355 | ASPM | n.2924-5_2924-3delinsTTA c.9637-5_9637-3delinsTTA (n.9637-5_9637-3delinsTTA) c.9859-5_9859-3delinsTTA (n.9859-5_9859-3delinsTTA) c.9613-5_9613-3delinsTTA (n.9613-5_9613-3delinsTTA) c.4882-5_4882-3delinsTTA (n.4882-5_4882-3delinsTTA) c.2632-5_2632-3delinsTTA (n.2632-5_2632-3delinsTTA) c.3595-5_3595-3delinsTTA (n.3595-5_3595-3delinsTTA) | |
1 | g.197090391_197090407del | CA2536797537 | ASPM | n.2924-19_2924-3del c.9637-19_9637-3del (n.9637-19_9637-3del) c.9859-19_9859-3del (n.9859-19_9859-3del) c.9613-19_9613-3del (n.9613-19_9613-3del) c.4882-19_4882-3del (n.4882-19_4882-3del) c.2632-19_2632-3del (n.2632-19_2632-3del) c.3595-19_3595-3del (n.3595-19_3595-3del) | |
1 | g.197090391_197090392insTCTAGTGGCGCAGCTAGTGATCTTTTCCTGTCTTCTGCAGAGGAG | CA2747239575 | ASPM | n.2924-4_2924-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA c.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.9637-4_9637-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA) c.9859-4_9859-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.9859-4_9859-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA) c.9613-4_9613-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.9613-4_9613-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA) c.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.4882-4_4882-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA) c.2632-4_2632-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.2632-4_2632-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA) c.3595-4_3595-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA (n.3595-4_3595-3insCTCCTCTGCAGAAGACAGGAAAAGATCACTAGCTGCGCCACTAGA) | |
1 | g.197090393_197090394del | CA35862048 | ASPM | n.2924-5_2924-4del c.9637-5_9637-4del (n.9637-5_9637-4del) c.9859-5_9859-4del (n.9859-5_9859-4del) c.9613-5_9613-4del (n.9613-5_9613-4del) c.4882-5_4882-4del (n.4882-5_4882-4del) c.2632-5_2632-4del (n.2632-5_2632-4del) c.3595-5_3595-4del (n.3595-5_3595-4del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090393_197090394insTGATTCCACTAGTGAATTTTTCCTGCTTTTTACGG | CA2747239576 | ASPM | n.2924-6_2924-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA c.9637-6_9637-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.9637-6_9637-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA) c.9859-6_9859-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.9859-6_9859-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA) c.9613-6_9613-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.9613-6_9613-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA) c.4882-6_4882-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.4882-6_4882-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA) c.2632-6_2632-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.2632-6_2632-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA) c.3595-6_3595-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA (n.3595-6_3595-5insCCGTAAAAAGCAGGAAAAATTCACTAGTGGAATCA) | |
1 | g.197090394A= | CA1217925357 | ASPM | n.2924-6T= c.9637-6T= (n.9637-6T=) c.9859-6T= (n.9859-6T=) c.9613-6T= (n.9613-6T=) c.4882-6T= (n.4882-6T=) c.2632-6T= (n.2632-6T=) c.3595-6T= (n.3595-6T=) | |
1 | g.197090394A>G | CA528279137 | ASPM | n.2924-6T>C c.9637-6T>C (n.9637-6T>C) c.9859-6T>C (n.9859-6T>C) c.9613-6T>C (n.9613-6T>C) c.4882-6T>C (n.4882-6T>C) c.2632-6T>C (n.2632-6T>C) c.3595-6T>C (n.3595-6T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090395G>A | CA528279138 | ASPM | n.2924-7C>T c.9637-7C>T (n.9637-7C>T) c.9859-7C>T (n.9859-7C>T) c.9613-7C>T (n.9613-7C>T) c.4882-7C>T (n.4882-7C>T) c.2632-7C>T (n.2632-7C>T) c.3595-7C>T (n.3595-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090395G= | CA1217925359 | ASPM | n.2924-7C= c.9637-7C= (n.9637-7C=) c.9859-7C= (n.9859-7C=) c.9613-7C= (n.9613-7C=) c.4882-7C= (n.4882-7C=) c.2632-7C= (n.2632-7C=) c.3595-7C= (n.3595-7C=) | |
1 | g.197090396A>T | CA2740211892 | ASPM | n.2924-8T>A c.9637-8T>A (n.9637-8T>A) c.9859-8T>A (n.9859-8T>A) c.9613-8T>A (n.9613-8T>A) c.4882-8T>A (n.4882-8T>A) c.2632-8T>A (n.2632-8T>A) c.3595-8T>A (n.3595-8T>A) | |
1 | g.197090397G>A | CA1010898351 | ASPM | n.2924-9C>T c.9637-9C>T (n.9637-9C>T) c.9859-9C>T (n.9859-9C>T) c.9613-9C>T (n.9613-9C>T) c.4882-9C>T (n.4882-9C>T) c.2632-9C>T (n.2632-9C>T) c.3595-9C>T (n.3595-9C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090397G= | CA1217925360 | ASPM | n.2924-9C= c.9637-9C= (n.9637-9C=) c.9859-9C= (n.9859-9C=) c.9613-9C= (n.9613-9C=) c.4882-9C= (n.4882-9C=) c.2632-9C= (n.2632-9C=) c.3595-9C= (n.3595-9C=) | |
1 | g.197090398A= | CA1217925362 | ASPM | n.2924-10T= c.9637-10T= (n.9637-10T=) c.9859-10T= (n.9859-10T=) c.9613-10T= (n.9613-10T=) c.4882-10T= (n.4882-10T=) c.2632-10T= (n.2632-10T=) c.3595-10T= (n.3595-10T=) | |
1 | g.197090398A>T | CA891843239 | ASPM | n.2924-10T>A c.9637-10T>A (n.9637-10T>A) c.9859-10T>A (n.9859-10T>A) c.9613-10T>A (n.9613-10T>A) c.4882-10T>A (n.4882-10T>A) c.2632-10T>A (n.2632-10T>A) c.3595-10T>A (n.3595-10T>A) | ClinVar dbSNP |
1 | g.197090399T>C | CA1217925365 | ASPM | n.2924-11A>G c.9637-11A>G (n.9637-11A>G) c.9859-11A>G (n.9859-11A>G) c.9613-11A>G (n.9613-11A>G) c.4882-11A>G (n.4882-11A>G) c.2632-11A>G (n.2632-11A>G) c.3595-11A>G (n.3595-11A>G) | dbSNP gnomAD v4 |
1 | g.197090399T= | CA1217925364 | ASPM | n.2924-11A= c.9637-11A= (n.9637-11A=) c.9859-11A= (n.9859-11A=) c.9613-11A= (n.9613-11A=) c.4882-11A= (n.4882-11A=) c.2632-11A= (n.2632-11A=) c.3595-11A= (n.3595-11A=) | |
1 | g.197090400A= | CA1217925366 | ASPM | n.2924-12T= c.9637-12T= (n.9637-12T=) c.9859-12T= (n.9859-12T=) c.9613-12T= (n.9613-12T=) c.4882-12T= (n.4882-12T=) c.2632-12T= (n.2632-12T=) c.3595-12T= (n.3595-12T=) | |
1 | g.197090400A>G | CA1308891 | ASPM | n.2924-12T>C c.9637-12T>C (n.9637-12T>C) c.9859-12T>C (n.9859-12T>C) c.9613-12T>C (n.9613-12T>C) c.4882-12T>C (n.4882-12T>C) c.2632-12T>C (n.2632-12T>C) c.3595-12T>C (n.3595-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090400_197090403del | CA2573973538 | ASPM | n.2924-15_2924-12del c.9637-15_9637-12del (n.9637-15_9637-12del) c.9859-15_9859-12del (n.9859-15_9859-12del) c.9613-15_9613-12del (n.9613-15_9613-12del) c.4882-15_4882-12del (n.4882-15_4882-12del) c.2632-15_2632-12del (n.2632-15_2632-12del) c.3595-15_3595-12del (n.3595-15_3595-12del) | |
1 | g.197090401_197090405del | CA2649660644 | ASPM | n.2924-16_2924-12del c.9637-16_9637-12del (n.9637-16_9637-12del) c.9859-16_9859-12del (n.9859-16_9859-12del) c.9613-16_9613-12del (n.9613-16_9613-12del) c.4882-16_4882-12del (n.4882-16_4882-12del) c.2632-16_2632-12del (n.2632-16_2632-12del) c.3595-16_3595-12del (n.3595-16_3595-12del) | gnomAD v4 |
1 | g.197090403A= | CA1217925367 | ASPM | n.2924-15T= c.9637-15T= (n.9637-15T=) c.9859-15T= (n.9859-15T=) c.9613-15T= (n.9613-15T=) c.4882-15T= (n.4882-15T=) c.2632-15T= (n.2632-15T=) c.3595-15T= (n.3595-15T=) | |
1 | g.197090403A>G | CA528279139 | ASPM | n.2924-15T>C c.9637-15T>C (n.9637-15T>C) c.9859-15T>C (n.9859-15T>C) c.9613-15T>C (n.9613-15T>C) c.4882-15T>C (n.4882-15T>C) c.2632-15T>C (n.2632-15T>C) c.3595-15T>C (n.3595-15T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090404_197090405del | CA2649660646 | ASPM | n.2924-16_2924-15del c.9637-16_9637-15del (n.9637-16_9637-15del) c.9859-16_9859-15del (n.9859-16_9859-15del) c.9613-16_9613-15del (n.9613-16_9613-15del) c.4882-16_4882-15del (n.4882-16_4882-15del) c.2632-16_2632-15del (n.2632-16_2632-15del) c.3595-16_3595-15del (n.3595-16_3595-15del) | gnomAD v4 |
1 | g.197090403_197090439dup | CA2649660645 | ASPM | n.2924-51_2924-15dup c.9637-51_9637-15dup (n.9637-51_9637-15dup) c.9859-51_9859-15dup (n.9859-51_9859-15dup) c.9613-51_9613-15dup (n.9613-51_9613-15dup) c.4882-51_4882-15dup (n.4882-51_4882-15dup) c.2632-51_2632-15dup (n.2632-51_2632-15dup) c.3595-51_3595-15dup (n.3595-51_3595-15dup) | gnomAD v4 |
1 | g.197090404C= | CA1217925370 | ASPM | n.2924-16G= c.9637-16G= (n.9637-16G=) c.9859-16G= (n.9859-16G=) c.9613-16G= (n.9613-16G=) c.4882-16G= (n.4882-16G=) c.2632-16G= (n.2632-16G=) c.3595-16G= (n.3595-16G=) | |
1 | g.197090404C>G | CA1308893 | ASPM | n.2924-16G>C c.9637-16G>C (n.9637-16G>C) c.9859-16G>C (n.9859-16G>C) c.9613-16G>C (n.9613-16G>C) c.4882-16G>C (n.4882-16G>C) c.2632-16G>C (n.2632-16G>C) c.3595-16G>C (n.3595-16G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090404C>T | CA1010898355 | ASPM | n.2924-16G>A c.9637-16G>A (n.9637-16G>A) c.9859-16G>A (n.9859-16G>A) c.9613-16G>A (n.9613-16G>A) c.4882-16G>A (n.4882-16G>A) c.2632-16G>A (n.2632-16G>A) c.3595-16G>A (n.3595-16G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090404_197090406delinsCAG | CA1217925369 | ASPM | n.2924-18_2924-16delinsCTG c.9637-18_9637-16delinsCTG (n.9637-18_9637-16delinsCTG) c.9859-18_9859-16delinsCTG (n.9859-18_9859-16delinsCTG) c.9613-18_9613-16delinsCTG (n.9613-18_9613-16delinsCTG) c.4882-18_4882-16delinsCTG (n.4882-18_4882-16delinsCTG) c.2632-18_2632-16delinsCTG (n.2632-18_2632-16delinsCTG) c.3595-18_3595-16delinsCTG (n.3595-18_3595-16delinsCTG) | |
1 | g.197090405del | CA2649660648 | ASPM | n.2924-17del c.9637-17del (n.9637-17del) c.9859-17del (n.9859-17del) c.9613-17del (n.9613-17del) c.4882-17del (n.4882-17del) c.2632-17del (n.2632-17del) c.3595-17del (n.3595-17del) | gnomAD v4 |
1 | g.197090405dup | CA2649660647 | ASPM | n.2924-17dup c.9637-17dup (n.9637-17dup) c.9859-17dup (n.9859-17dup) c.9613-17dup (n.9613-17dup) c.4882-17dup (n.4882-17dup) c.2632-17dup (n.2632-17dup) c.3595-17dup (n.3595-17dup) | gnomAD v4 |
1 | g.197090405_197090407del | CA2649660649 | ASPM | n.2924-19_2924-17del c.9637-19_9637-17del (n.9637-19_9637-17del) c.9859-19_9859-17del (n.9859-19_9859-17del) c.9613-19_9613-17del (n.9613-19_9613-17del) c.4882-19_4882-17del (n.4882-19_4882-17del) c.2632-19_2632-17del (n.2632-19_2632-17del) c.3595-19_3595-17del (n.3595-19_3595-17del) | gnomAD v4 |
1 | g.197090407_197090408del | CA1308892 | ASPM | n.2924-18_2924-17del c.9637-18_9637-17del (n.9637-18_9637-17del) c.9859-18_9859-17del (n.9859-18_9859-17del) c.9613-18_9613-17del (n.9613-18_9613-17del) c.4882-18_4882-17del (n.4882-18_4882-17del) c.2632-18_2632-17del (n.2632-18_2632-17del) c.3595-18_3595-17del (n.3595-18_3595-17del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090406G>C | CA2649660650 | ASPM | n.2924-18C>G c.9637-18C>G (n.9637-18C>G) c.9859-18C>G (n.9859-18C>G) c.9613-18C>G (n.9613-18C>G) c.4882-18C>G (n.4882-18C>G) c.2632-18C>G (n.2632-18C>G) c.3595-18C>G (n.3595-18C>G) | gnomAD v4 |
1 | g.197090406G>T | CA2649660651 | ASPM | n.2924-18C>A c.9637-18C>A (n.9637-18C>A) c.9859-18C>A (n.9859-18C>A) c.9613-18C>A (n.9613-18C>A) c.4882-18C>A (n.4882-18C>A) c.2632-18C>A (n.2632-18C>A) c.3595-18C>A (n.3595-18C>A) | gnomAD v4 |
1 | g.197090407A= | CA1217925371 | ASPM | n.2924-19T= c.9637-19T= (n.9637-19T=) c.9859-19T= (n.9859-19T=) c.9613-19T= (n.9613-19T=) c.4882-19T= (n.4882-19T=) c.2632-19T= (n.2632-19T=) c.3595-19T= (n.3595-19T=) | |
1 | g.197090407A>G | CA528279140 | ASPM | n.2924-19T>C c.9637-19T>C (n.9637-19T>C) c.9859-19T>C (n.9859-19T>C) c.9613-19T>C (n.9613-19T>C) c.4882-19T>C (n.4882-19T>C) c.2632-19T>C (n.2632-19T>C) c.3595-19T>C (n.3595-19T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090408G>A | CA1308894 | ASPM | n.2924-20C>T c.9637-20C>T (n.9637-20C>T) c.9859-20C>T (n.9859-20C>T) c.9613-20C>T (n.9613-20C>T) c.4882-20C>T (n.4882-20C>T) c.2632-20C>T (n.2632-20C>T) c.3595-20C>T (n.3595-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090408G= | CA1144127460 | ASPM | n.2924-20C= c.9637-20C= (n.9637-20C=) c.9859-20C= (n.9859-20C=) c.9613-20C= (n.9613-20C=) c.4882-20C= (n.4882-20C=) c.2632-20C= (n.2632-20C=) c.3595-20C= (n.3595-20C=) | |
1 | g.197090408G>T | CA2649660652 | ASPM | n.2924-20C>A c.9637-20C>A (n.9637-20C>A) c.9859-20C>A (n.9859-20C>A) c.9613-20C>A (n.9613-20C>A) c.4882-20C>A (n.4882-20C>A) c.2632-20C>A (n.2632-20C>A) c.3595-20C>A (n.3595-20C>A) | gnomAD v4 |
1 | g.197090409T>A | CA528279141 | ASPM | n.2924-21A>T c.9637-21A>T (n.9637-21A>T) c.9859-21A>T (n.9859-21A>T) c.9613-21A>T (n.9613-21A>T) c.4882-21A>T (n.4882-21A>T) c.2632-21A>T (n.2632-21A>T) c.3595-21A>T (n.3595-21A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090409T= | CA1217925373 | ASPM | n.2924-21A= c.9637-21A= (n.9637-21A=) c.9859-21A= (n.9859-21A=) c.9613-21A= (n.9613-21A=) c.4882-21A= (n.4882-21A=) c.2632-21A= (n.2632-21A=) c.3595-21A= (n.3595-21A=) | |
1 | g.197090410A>C | CA2649660653 | ASPM | n.2924-22T>G c.9637-22T>G (n.9637-22T>G) c.9859-22T>G (n.9859-22T>G) c.9613-22T>G (n.9613-22T>G) c.4882-22T>G (n.4882-22T>G) c.2632-22T>G (n.2632-22T>G) c.3595-22T>G (n.3595-22T>G) | gnomAD v4 |
1 | g.197090410A>G | CA2529090050 | ASPM | n.2924-22T>C c.9637-22T>C (n.9637-22T>C) c.9859-22T>C (n.9859-22T>C) c.9613-22T>C (n.9613-22T>C) c.4882-22T>C (n.4882-22T>C) c.2632-22T>C (n.2632-22T>C) c.3595-22T>C (n.3595-22T>C) | |
1 | g.197090411A= | CA1217925374 | ASPM | n.2924-23T= c.9637-23T= (n.9637-23T=) c.9859-23T= (n.9859-23T=) c.9613-23T= (n.9613-23T=) c.4882-23T= (n.4882-23T=) c.2632-23T= (n.2632-23T=) c.3595-23T= (n.3595-23T=) | |
1 | g.197090411A>T | CA1308895 | ASPM | n.2924-23T>A c.9637-23T>A (n.9637-23T>A) c.9859-23T>A (n.9859-23T>A) c.9613-23T>A (n.9613-23T>A) c.4882-23T>A (n.4882-23T>A) c.2632-23T>A (n.2632-23T>A) c.3595-23T>A (n.3595-23T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090413T>A | CA528279142 | ASPM | n.2924-25A>T c.9637-25A>T (n.9637-25A>T) c.9859-25A>T (n.9859-25A>T) c.9613-25A>T (n.9613-25A>T) c.4882-25A>T (n.4882-25A>T) c.2632-25A>T (n.2632-25A>T) c.3595-25A>T (n.3595-25A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090413T>C | CA2649660654 | ASPM | n.2924-25A>G c.9637-25A>G (n.9637-25A>G) c.9859-25A>G (n.9859-25A>G) c.9613-25A>G (n.9613-25A>G) c.4882-25A>G (n.4882-25A>G) c.2632-25A>G (n.2632-25A>G) c.3595-25A>G (n.3595-25A>G) | gnomAD v4 |
1 | g.197090413T= | CA1217925376 | ASPM | n.2924-25A= c.9637-25A= (n.9637-25A=) c.9859-25A= (n.9859-25A=) c.9613-25A= (n.9613-25A=) c.4882-25A= (n.4882-25A=) c.2632-25A= (n.2632-25A=) c.3595-25A= (n.3595-25A=) | |
1 | g.197090415T>C | CA2649660655 | ASPM | n.2924-27A>G c.9637-27A>G (n.9637-27A>G) c.9859-27A>G (n.9859-27A>G) c.9613-27A>G (n.9613-27A>G) c.4882-27A>G (n.4882-27A>G) c.2632-27A>G (n.2632-27A>G) c.3595-27A>G (n.3595-27A>G) | gnomAD v4 |
1 | g.197090415_197090418delinsTAAG | CA1217925377 | ASPM | n.2924-30_2924-27delinsCTTA c.9637-30_9637-27delinsCTTA (n.9637-30_9637-27delinsCTTA) c.9859-30_9859-27delinsCTTA (n.9859-30_9859-27delinsCTTA) c.9613-30_9613-27delinsCTTA (n.9613-30_9613-27delinsCTTA) c.4882-30_4882-27delinsCTTA (n.4882-30_4882-27delinsCTTA) c.2632-30_2632-27delinsCTTA (n.2632-30_2632-27delinsCTTA) c.3595-30_3595-27delinsCTTA (n.3595-30_3595-27delinsCTTA) | |
1 | g.197090416A= | CA1148465296 | ASPM | n.2924-28T= c.9637-28T= (n.9637-28T=) c.9859-28T= (n.9859-28T=) c.9613-28T= (n.9613-28T=) c.4882-28T= (n.4882-28T=) c.2632-28T= (n.2632-28T=) c.3595-28T= (n.3595-28T=) | |
1 | g.197090416A>G | CA1308897 | ASPM | n.2924-28T>C c.9637-28T>C (n.9637-28T>C) c.9859-28T>C (n.9859-28T>C) c.9613-28T>C (n.9613-28T>C) c.4882-28T>C (n.4882-28T>C) c.2632-28T>C (n.2632-28T>C) c.3595-28T>C (n.3595-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090416A>T | CA2573973560 | ASPM | n.2924-28T>A c.9637-28T>A (n.9637-28T>A) c.9859-28T>A (n.9859-28T>A) c.9613-28T>A (n.9613-28T>A) c.4882-28T>A (n.4882-28T>A) c.2632-28T>A (n.2632-28T>A) c.3595-28T>A (n.3595-28T>A) | |
1 | g.197090417_197090419del | CA1308896 | ASPM | n.2924-30_2924-28del c.9637-30_9637-28del (n.9637-30_9637-28del) c.9859-30_9859-28del (n.9859-30_9859-28del) c.9613-30_9613-28del (n.9613-30_9613-28del) c.4882-30_4882-28del (n.4882-30_4882-28del) c.2632-30_2632-28del (n.2632-30_2632-28del) c.3595-30_3595-28del (n.3595-30_3595-28del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090417A= | CA1217925380 | ASPM | n.2924-29T= c.9637-29T= (n.9637-29T=) c.9859-29T= (n.9859-29T=) c.9613-29T= (n.9613-29T=) c.4882-29T= (n.4882-29T=) c.2632-29T= (n.2632-29T=) c.3595-29T= (n.3595-29T=) | |
1 | g.197090417A>G | CA1308898 | ASPM | n.2924-29T>C c.9637-29T>C (n.9637-29T>C) c.9859-29T>C (n.9859-29T>C) c.9613-29T>C (n.9613-29T>C) c.4882-29T>C (n.4882-29T>C) c.2632-29T>C (n.2632-29T>C) c.3595-29T>C (n.3595-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090418G>T | CA2649660656 | ASPM | n.2924-30C>A c.9637-30C>A (n.9637-30C>A) c.9859-30C>A (n.9859-30C>A) c.9613-30C>A (n.9613-30C>A) c.4882-30C>A (n.4882-30C>A) c.2632-30C>A (n.2632-30C>A) c.3595-30C>A (n.3595-30C>A) | gnomAD v4 |
1 | g.197090419A>G | CA2649660657 | ASPM | n.2924-31T>C c.9637-31T>C (n.9637-31T>C) c.9859-31T>C (n.9859-31T>C) c.9613-31T>C (n.9613-31T>C) c.4882-31T>C (n.4882-31T>C) c.2632-31T>C (n.2632-31T>C) c.3595-31T>C (n.3595-31T>C) | gnomAD v4 |
1 | g.197090420T>C | CA2649660658 | ASPM | n.2924-32A>G c.9637-32A>G (n.9637-32A>G) c.9859-32A>G (n.9859-32A>G) c.9613-32A>G (n.9613-32A>G) c.4882-32A>G (n.4882-32A>G) c.2632-32A>G (n.2632-32A>G) c.3595-32A>G (n.3595-32A>G) | gnomAD v4 |
1 | g.197090421del | CA2649660659 | ASPM | n.2924-32del c.9637-32del (n.9637-32del) c.9859-32del (n.9859-32del) c.9613-32del (n.9613-32del) c.4882-32del (n.4882-32del) c.2632-32del (n.2632-32del) c.3595-32del (n.3595-32del) | gnomAD v4 |
1 | g.197090423_197090424del | CA2747239577 | ASPM | n.2924-34_2924-33del c.9637-34_9637-33del (n.9637-34_9637-33del) c.9859-34_9859-33del (n.9859-34_9859-33del) c.9613-34_9613-33del (n.9613-34_9613-33del) c.4882-34_4882-33del (n.4882-34_4882-33del) c.2632-34_2632-33del (n.2632-34_2632-33del) c.3595-34_3595-33del (n.3595-34_3595-33del) | |
1 | g.197090422A= | CA1217925383 | ASPM | n.2924-34T= c.9637-34T= (n.9637-34T=) c.9859-34T= (n.9859-34T=) c.9613-34T= (n.9613-34T=) c.4882-34T= (n.4882-34T=) c.2632-34T= (n.2632-34T=) c.3595-34T= (n.3595-34T=) | |
1 | g.197090422A>G | CA1308899 | ASPM | n.2924-34T>C c.9637-34T>C (n.9637-34T>C) c.9859-34T>C (n.9859-34T>C) c.9613-34T>C (n.9613-34T>C) c.4882-34T>C (n.4882-34T>C) c.2632-34T>C (n.2632-34T>C) c.3595-34T>C (n.3595-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090423T>C | CA528279143 | ASPM | n.2924-35A>G c.9637-35A>G (n.9637-35A>G) c.9859-35A>G (n.9859-35A>G) c.9613-35A>G (n.9613-35A>G) c.4882-35A>G (n.4882-35A>G) c.2632-35A>G (n.2632-35A>G) c.3595-35A>G (n.3595-35A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090423T= | CA1217925384 | ASPM | n.2924-35A= c.9637-35A= (n.9637-35A=) c.9859-35A= (n.9859-35A=) c.9613-35A= (n.9613-35A=) c.4882-35A= (n.4882-35A=) c.2632-35A= (n.2632-35A=) c.3595-35A= (n.3595-35A=) | |
1 | g.197090425G>A | CA2649660660 | ASPM | n.2924-37C>T c.9637-37C>T (n.9637-37C>T) c.9859-37C>T (n.9859-37C>T) c.9613-37C>T (n.9613-37C>T) c.4882-37C>T (n.4882-37C>T) c.2632-37C>T (n.2632-37C>T) c.3595-37C>T (n.3595-37C>T) | gnomAD v4 |
1 | g.197090425G>T | CA2649660661 | ASPM | n.2924-37C>A c.9637-37C>A (n.9637-37C>A) c.9859-37C>A (n.9859-37C>A) c.9613-37C>A (n.9613-37C>A) c.4882-37C>A (n.4882-37C>A) c.2632-37C>A (n.2632-37C>A) c.3595-37C>A (n.3595-37C>A) | gnomAD v4 |
1 | g.197090426C>A | CA1308901 | ASPM | n.2924-38G>T c.9637-38G>T (n.9637-38G>T) c.9859-38G>T (n.9859-38G>T) c.9613-38G>T (n.9613-38G>T) c.4882-38G>T (n.4882-38G>T) c.2632-38G>T (n.2632-38G>T) c.3595-38G>T (n.3595-38G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090426C= | CA1141542380 | ASPM | n.2924-38G= c.9637-38G= (n.9637-38G=) c.9859-38G= (n.9859-38G=) c.9613-38G= (n.9613-38G=) c.4882-38G= (n.4882-38G=) c.2632-38G= (n.2632-38G=) c.3595-38G= (n.3595-38G=) | |
1 | g.197090426C>T | CA1308900 | ASPM | n.2924-38G>A c.9637-38G>A (n.9637-38G>A) c.9859-38G>A (n.9859-38G>A) c.9613-38G>A (n.9613-38G>A) c.4882-38G>A (n.4882-38G>A) c.2632-38G>A (n.2632-38G>A) c.3595-38G>A (n.3595-38G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090427C>A | CA2649660662 | ASPM | n.2924-39G>T c.9637-39G>T (n.9637-39G>T) c.9859-39G>T (n.9859-39G>T) c.9613-39G>T (n.9613-39G>T) c.4882-39G>T (n.4882-39G>T) c.2632-39G>T (n.2632-39G>T) c.3595-39G>T (n.3595-39G>T) | gnomAD v4 |
1 | g.197090428A= | CA1217925387 | ASPM | n.2924-40T= c.9637-40T= (n.9637-40T=) c.9859-40T= (n.9859-40T=) c.9613-40T= (n.9613-40T=) c.4882-40T= (n.4882-40T=) c.2632-40T= (n.2632-40T=) c.3595-40T= (n.3595-40T=) | |
1 | g.197090428A>C | CA1308902 | ASPM | n.2924-40T>G c.9637-40T>G (n.9637-40T>G) c.9859-40T>G (n.9859-40T>G) c.9613-40T>G (n.9613-40T>G) c.4882-40T>G (n.4882-40T>G) c.2632-40T>G (n.2632-40T>G) c.3595-40T>G (n.3595-40T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090429A= | CA1217925389 | ASPM | n.2924-41T= c.9637-41T= (n.9637-41T=) c.9859-41T= (n.9859-41T=) c.9613-41T= (n.9613-41T=) c.4882-41T= (n.4882-41T=) c.2632-41T= (n.2632-41T=) c.3595-41T= (n.3595-41T=) | |
1 | g.197090429A>G | CA1308903 | ASPM | n.2924-41T>C c.9637-41T>C (n.9637-41T>C) c.9859-41T>C (n.9859-41T>C) c.9613-41T>C (n.9613-41T>C) c.4882-41T>C (n.4882-41T>C) c.2632-41T>C (n.2632-41T>C) c.3595-41T>C (n.3595-41T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090430T>A | CA2649660663 | ASPM | n.2924-42A>T c.9637-42A>T (n.9637-42A>T) c.9859-42A>T (n.9859-42A>T) c.9613-42A>T (n.9613-42A>T) c.4882-42A>T (n.4882-42A>T) c.2632-42A>T (n.2632-42A>T) c.3595-42A>T (n.3595-42A>T) | gnomAD v4 |
1 | g.197090430T>C | CA528279144 | ASPM | n.2924-42A>G c.9637-42A>G (n.9637-42A>G) c.9859-42A>G (n.9859-42A>G) c.9613-42A>G (n.9613-42A>G) c.4882-42A>G (n.4882-42A>G) c.2632-42A>G (n.2632-42A>G) c.3595-42A>G (n.3595-42A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090430T= | CA1217925390 | ASPM | n.2924-42A= c.9637-42A= (n.9637-42A=) c.9859-42A= (n.9859-42A=) c.9613-42A= (n.9613-42A=) c.4882-42A= (n.4882-42A=) c.2632-42A= (n.2632-42A=) c.3595-42A= (n.3595-42A=) | |
1 | g.197090431G>T | CA2649660664 | ASPM | n.2924-43C>A c.9637-43C>A (n.9637-43C>A) c.9859-43C>A (n.9859-43C>A) c.9613-43C>A (n.9613-43C>A) c.4882-43C>A (n.4882-43C>A) c.2632-43C>A (n.2632-43C>A) c.3595-43C>A (n.3595-43C>A) | gnomAD v4 |
1 | g.197090432T>A | CA2649660665 | ASPM | n.2924-44A>T c.9637-44A>T (n.9637-44A>T) c.9859-44A>T (n.9859-44A>T) c.9613-44A>T (n.9613-44A>T) c.4882-44A>T (n.4882-44A>T) c.2632-44A>T (n.2632-44A>T) c.3595-44A>T (n.3595-44A>T) | gnomAD v4 |
1 | g.197090436C>A | CA2649660666 | ASPM | n.2924-48G>T c.9637-48G>T (n.9637-48G>T) c.9859-48G>T (n.9859-48G>T) c.9613-48G>T (n.9613-48G>T) c.4882-48G>T (n.4882-48G>T) c.2632-48G>T (n.2632-48G>T) c.3595-48G>T (n.3595-48G>T) | gnomAD v4 |
1 | g.197090437T>A | CA2573973608 | ASPM | n.2924-49A>T c.9637-49A>T (n.9637-49A>T) c.9859-49A>T (n.9859-49A>T) c.9613-49A>T (n.9613-49A>T) c.4882-49A>T (n.4882-49A>T) c.2632-49A>T (n.2632-49A>T) c.3595-49A>T (n.3595-49A>T) | |
1 | g.197090437T>C | CA1308904 | ASPM | n.2924-49A>G c.9637-49A>G (n.9637-49A>G) c.9859-49A>G (n.9859-49A>G) c.9613-49A>G (n.9613-49A>G) c.4882-49A>G (n.4882-49A>G) c.2632-49A>G (n.2632-49A>G) c.3595-49A>G (n.3595-49A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090437T= | CA1217925391 | ASPM | n.2924-49A= c.9637-49A= (n.9637-49A=) c.9859-49A= (n.9859-49A=) c.9613-49A= (n.9613-49A=) c.4882-49A= (n.4882-49A=) c.2632-49A= (n.2632-49A=) c.3595-49A= (n.3595-49A=) | |
1 | g.197090440_197090445del | CA2649660667 | ASPM | n.2924-54_2924-49del c.9637-54_9637-49del (n.9637-54_9637-49del) c.9859-54_9859-49del (n.9859-54_9859-49del) c.9613-54_9613-49del (n.9613-54_9613-49del) c.4882-54_4882-49del (n.4882-54_4882-49del) c.2632-54_2632-49del (n.2632-54_2632-49del) c.3595-54_3595-49del (n.3595-54_3595-49del) | gnomAD v4 |
1 | g.197090439T>C | CA528279145 | ASPM | n.2924-51A>G c.9637-51A>G (n.9637-51A>G) c.9859-51A>G (n.9859-51A>G) c.9613-51A>G (n.9613-51A>G) c.4882-51A>G (n.4882-51A>G) c.2632-51A>G (n.2632-51A>G) c.3595-51A>G (n.3595-51A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090439T= | CA1217925392 | ASPM | n.2924-51A= c.9637-51A= (n.9637-51A=) c.9859-51A= (n.9859-51A=) c.9613-51A= (n.9613-51A=) c.4882-51A= (n.4882-51A=) c.2632-51A= (n.2632-51A=) c.3595-51A= (n.3595-51A=) | |
1 | g.197090440T>C | CA1217925394 | ASPM | n.2924-52A>G c.9637-52A>G (n.9637-52A>G) c.9859-52A>G (n.9859-52A>G) c.9613-52A>G (n.9613-52A>G) c.4882-52A>G (n.4882-52A>G) c.2632-52A>G (n.2632-52A>G) c.3595-52A>G (n.3595-52A>G) | dbSNP |
1 | g.197090440T= | CA1217925393 | ASPM | n.2924-52A= c.9637-52A= (n.9637-52A=) c.9859-52A= (n.9859-52A=) c.9613-52A= (n.9613-52A=) c.4882-52A= (n.4882-52A=) c.2632-52A= (n.2632-52A=) c.3595-52A= (n.3595-52A=) | |
1 | g.197090441T>A | CA2649660668 | ASPM | n.2924-53A>T c.9637-53A>T (n.9637-53A>T) c.9859-53A>T (n.9859-53A>T) c.9613-53A>T (n.9613-53A>T) c.4882-53A>T (n.4882-53A>T) c.2632-53A>T (n.2632-53A>T) c.3595-53A>T (n.3595-53A>T) | gnomAD v4 |
1 | g.197090442A>G | CA2557909893 | ASPM | n.2924-54T>C c.9637-54T>C (n.9637-54T>C) c.9859-54T>C (n.9859-54T>C) c.9613-54T>C (n.9613-54T>C) c.4882-54T>C (n.4882-54T>C) c.2632-54T>C (n.2632-54T>C) c.3595-54T>C (n.3595-54T>C) | gnomAD v4 |
1 | g.197090443T>C | CA1217925396 | ASPM | n.2924-55A>G c.9637-55A>G (n.9637-55A>G) c.9859-55A>G (n.9859-55A>G) c.9613-55A>G (n.9613-55A>G) c.4882-55A>G (n.4882-55A>G) c.2632-55A>G (n.2632-55A>G) c.3595-55A>G (n.3595-55A>G) | dbSNP gnomAD v4 |
1 | g.197090443T>G | CA1217925398 | ASPM | n.2924-55A>C c.9637-55A>C (n.9637-55A>C) c.9859-55A>C (n.9859-55A>C) c.9613-55A>C (n.9613-55A>C) c.4882-55A>C (n.4882-55A>C) c.2632-55A>C (n.2632-55A>C) c.3595-55A>C (n.3595-55A>C) | dbSNP gnomAD v4 |
1 | g.197090443T= | CA1217925395 | ASPM | n.2924-55A= c.9637-55A= (n.9637-55A=) c.9859-55A= (n.9859-55A=) c.9613-55A= (n.9613-55A=) c.4882-55A= (n.4882-55A=) c.2632-55A= (n.2632-55A=) c.3595-55A= (n.3595-55A=) | |
1 | g.197090445T>G | CA1217925399 | ASPM | n.2924-57A>C c.9637-57A>C (n.9637-57A>C) c.9859-57A>C (n.9859-57A>C) c.9613-57A>C (n.9613-57A>C) c.4882-57A>C (n.4882-57A>C) c.2632-57A>C (n.2632-57A>C) c.3595-57A>C (n.3595-57A>C) | dbSNP |
1 | g.197090445T= | CA1217925400 | ASPM | n.2924-57A= c.9637-57A= (n.9637-57A=) c.9859-57A= (n.9859-57A=) c.9613-57A= (n.9613-57A=) c.4882-57A= (n.4882-57A=) c.2632-57A= (n.2632-57A=) c.3595-57A= (n.3595-57A=) | |
1 | g.197090446C= | CA1217925401 | ASPM | n.2924-58G= c.9637-58G= (n.9637-58G=) c.9859-58G= (n.9859-58G=) c.9613-58G= (n.9613-58G=) c.4882-58G= (n.4882-58G=) c.2632-58G= (n.2632-58G=) c.3595-58G= (n.3595-58G=) | |
1 | g.197090446C>T | CA729742579 | ASPM | n.2924-58G>A c.9637-58G>A (n.9637-58G>A) c.9859-58G>A (n.9859-58G>A) c.9613-58G>A (n.9613-58G>A) c.4882-58G>A (n.4882-58G>A) c.2632-58G>A (n.2632-58G>A) c.3595-58G>A (n.3595-58G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090447T>A | CA2573973622 | ASPM | n.2924-59A>T c.9637-59A>T (n.9637-59A>T) c.9859-59A>T (n.9859-59A>T) c.9613-59A>T (n.9613-59A>T) c.4882-59A>T (n.4882-59A>T) c.2632-59A>T (n.2632-59A>T) c.3595-59A>T (n.3595-59A>T) | gnomAD v4 |
1 | g.197090447T>G | CA2649660669 | ASPM | n.2924-59A>C c.9637-59A>C (n.9637-59A>C) c.9859-59A>C (n.9859-59A>C) c.9613-59A>C (n.9613-59A>C) c.4882-59A>C (n.4882-59A>C) c.2632-59A>C (n.2632-59A>C) c.3595-59A>C (n.3595-59A>C) | gnomAD v4 |
1 | g.197090449C= | CA1217925403 | ASPM | n.2924-61G= c.9637-61G= (n.9637-61G=) c.9859-61G= (n.9859-61G=) c.9613-61G= (n.9613-61G=) c.4882-61G= (n.4882-61G=) c.2632-61G= (n.2632-61G=) c.3595-61G= (n.3595-61G=) | |
1 | g.197090449C>T | CA35862080 | ASPM | n.2924-61G>A c.9637-61G>A (n.9637-61G>A) c.9859-61G>A (n.9859-61G>A) c.9613-61G>A (n.9613-61G>A) c.4882-61G>A (n.4882-61G>A) c.2632-61G>A (n.2632-61G>A) c.3595-61G>A (n.3595-61G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |