| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197093186_197093187delinsAT | CA1217926717 | ASPM | n.2446_2447delinsAT c.9159_9160delinsAT (p.Lys3053=) c.9381_9382delinsAT (p.Lys3127=) c.4404_4405delinsAT (p.Lys1468=) c.2154_2155delinsAT (p.Lys718=) c.3117_3118delinsAT (p.Lys1039=) | |
| 1 | g.197093187T>A | CA344007337 | ASPM | n.2446A>T c.9159A>T (p.Lys3053Asn) c.9381A>T (p.Lys3127Asn) c.4404A>T (p.Lys1468Asn) c.2154A>T (p.Lys718Asn) c.3117A>T (p.Lys1039Asn) | |
| 1 | g.197093187T>C | CA1309028 | ASPM | n.2446A>G c.9159A>G (p.Lys3053=) c.9381A>G (p.Lys3127=) c.4404A>G (p.Lys1468=) c.2154A>G (p.Lys718=) c.3117A>G (p.Lys1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093187T>G | CA344007340 | ASPM | n.2446A>C c.9159A>C (p.Lys3053Asn) c.9381A>C (p.Lys3127Asn) c.4404A>C (p.Lys1468Asn) c.2154A>C (p.Lys718Asn) c.3117A>C (p.Lys1039Asn) | |
| 1 | g.197093187T= | CA1217926719 | ASPM | n.2446A= c.9159A= (p.Lys3053=) c.9381A= (p.Lys3127=) c.4404A= (p.Lys1468=) c.2154A= (p.Lys718=) c.3117A= (p.Lys1039=) | |
| 1 | g.197093187_197093189delinsTTT | CA1143355795 | ASPM | n.2444_2446delinsAAA c.9157_9159delinsAAA (p.Lys3053=) c.9379_9381delinsAAA (p.Lys3127=) c.4402_4404delinsAAA (p.Lys1468=) c.2152_2154delinsAAA (p.Lys718=) c.3115_3117delinsAAA (p.Lys1039=) | |
| 1 | g.197093189del | CA340324 | ASPM | n.2446del c.9159del (p.Lys3053AsnfsTer5) c.9381del (p.Lys3127AsnfsTer5) c.4404del (p.Lys1468AsnfsTer5) c.2154del (p.Lys718AsnfsTer5) c.3117del (p.Lys1039AsnfsTer5) | ClinVar dbSNP |
| 1 | g.197093188T>A | CA35863500 | ASPM | n.2445A>T c.9158A>T (p.Lys3053Ile) c.9380A>T (p.Lys3127Ile) c.4403A>T (p.Lys1468Ile) c.2153A>T (p.Lys718Ile) c.3116A>T (p.Lys1039Ile) | dbSNP |
| 1 | g.197093188T>C | CA344007345 | ASPM | n.2445A>G c.9158A>G (p.Lys3053Arg) c.9380A>G (p.Lys3127Arg) c.4403A>G (p.Lys1468Arg) c.2153A>G (p.Lys718Arg) c.3116A>G (p.Lys1039Arg) | dbSNP |
| 1 | g.197093188T>G | CA344007348 | ASPM | n.2445A>C c.9158A>C (p.Lys3053Thr) c.9380A>C (p.Lys3127Thr) c.4403A>C (p.Lys1468Thr) c.2153A>C (p.Lys718Thr) c.3116A>C (p.Lys1039Thr) | |
| 1 | g.197093188T= | CA1217926720 | ASPM | n.2445A= c.9158A= (p.Lys3053=) c.9380A= (p.Lys3127=) c.4403A= (p.Lys1468=) c.2153A= (p.Lys718=) c.3116A= (p.Lys1039=) | |
| 1 | g.197093189T>A | CA344007353 | ASPM | n.2444A>T c.9157A>T (p.Lys3053Ter) c.9379A>T (p.Lys3127Ter) c.4402A>T (p.Lys1468Ter) c.2152A>T (p.Lys718Ter) c.3115A>T (p.Lys1039Ter) | |
| 1 | g.197093189T>C | CA344007351 | ASPM | n.2444A>G c.9157A>G (p.Lys3053Glu) c.9379A>G (p.Lys3127Glu) c.4402A>G (p.Lys1468Glu) c.2152A>G (p.Lys718Glu) c.3115A>G (p.Lys1039Glu) | |
| 1 | g.197093189T>G | CA344007350 | ASPM | n.2444A>C c.9157A>C (p.Lys3053Gln) c.9379A>C (p.Lys3127Gln) c.4402A>C (p.Lys1468Gln) c.2152A>C (p.Lys718Gln) c.3115A>C (p.Lys1039Gln) | |
| 1 | g.197093190C>A | CA344007355 | ASPM | n.2443G>T c.9156G>T (p.Gln3052His) c.9378G>T (p.Gln3126His) c.4401G>T (p.Gln1467His) c.2151G>T (p.Gln717His) c.3114G>T (p.Gln1038His) | |
| 1 | g.197093190C= | CA1217926721 | ASPM | n.2443G= c.9156G= (p.Gln3052=) c.9378G= (p.Gln3126=) c.4401G= (p.Gln1467=) c.2151G= (p.Gln717=) c.3114G= (p.Gln1038=) | |
| 1 | g.197093190C>G | CA344007357 | ASPM | n.2443G>C c.9156G>C (p.Gln3052His) c.9378G>C (p.Gln3126His) c.4401G>C (p.Gln1467His) c.2151G>C (p.Gln717His) c.3114G>C (p.Gln1038His) | |
| 1 | g.197093190C>T | CA422673188 | ASPM | n.2443G>A c.9156G>A (p.Gln3052=) c.9378G>A (p.Gln3126=) c.4401G>A (p.Gln1467=) c.2151G>A (p.Gln717=) c.3114G>A (p.Gln1038=) | dbSNP gnomAD v4 |
| 1 | g.197093195_197093209del | CA2649661168 | ASPM | n.2429_2443del c.9142_9156del (p.Val3048_Gln3052del) c.9364_9378del (p.Val3122_Gln3126del) c.4387_4401del (p.Val1463_Gln1467del) c.2137_2151del (p.Val713_Gln717del) c.3100_3114del (p.Val1034_Gln1038del) | gnomAD v4 |
| 1 | g.197093191T>A | CA344007360 | ASPM | n.2442A>T c.9155A>T (p.Gln3052Leu) c.9377A>T (p.Gln3126Leu) c.4400A>T (p.Gln1467Leu) c.2150A>T (p.Gln717Leu) c.3113A>T (p.Gln1038Leu) | |
| 1 | g.197093191T>C | CA344007362 | ASPM | n.2442A>G c.9155A>G (p.Gln3052Arg) c.9377A>G (p.Gln3126Arg) c.4400A>G (p.Gln1467Arg) c.2150A>G (p.Gln717Arg) c.3113A>G (p.Gln1038Arg) | dbSNP |
| 1 | g.197093191T>G | CA344007364 | ASPM | n.2442A>C c.9155A>C (p.Gln3052Pro) c.9377A>C (p.Gln3126Pro) c.4400A>C (p.Gln1467Pro) c.2150A>C (p.Gln717Pro) c.3113A>C (p.Gln1038Pro) | |
| 1 | g.197093191T= | CA1217926722 | ASPM | n.2442A= c.9155A= (p.Gln3052=) c.9377A= (p.Gln3126=) c.4400A= (p.Gln1467=) c.2150A= (p.Gln717=) c.3113A= (p.Gln1038=) | |
| 1 | g.197093192G>A | CA344007374 | ASPM | n.2441C>T c.9154C>T (p.Gln3052Ter) c.9376C>T (p.Gln3126Ter) c.4399C>T (p.Gln1467Ter) c.2149C>T (p.Gln717Ter) c.3112C>T (p.Gln1038Ter) | |
| 1 | g.197093192G>C | CA344007371 | ASPM | n.2441C>G c.9154C>G (p.Gln3052Glu) c.9376C>G (p.Gln3126Glu) c.4399C>G (p.Gln1467Glu) c.2149C>G (p.Gln717Glu) c.3112C>G (p.Gln1038Glu) | |
| 1 | g.197093192G>T | CA344007369 | ASPM | n.2441C>A c.9154C>A (p.Gln3052Lys) c.9376C>A (p.Gln3126Lys) c.4399C>A (p.Gln1467Lys) c.2149C>A (p.Gln717Lys) c.3112C>A (p.Gln1038Lys) | |
| 1 | g.197093193C>A | CA422673189 | ASPM | n.2440G>T c.9153G>T (p.Arg3051=) c.9375G>T (p.Arg3125=) c.4398G>T (p.Arg1466=) c.2148G>T (p.Arg716=) c.3111G>T (p.Arg1037=) | |
| 1 | g.197093193C>G | CA422673190 | ASPM | n.2440G>C c.9153G>C (p.Arg3051=) c.9375G>C (p.Arg3125=) c.4398G>C (p.Arg1466=) c.2148G>C (p.Arg716=) c.3111G>C (p.Arg1037=) | |
| 1 | g.197093193C>T | CA422673191 | ASPM | n.2440G>A c.9153G>A (p.Arg3051=) c.9375G>A (p.Arg3125=) c.4398G>A (p.Arg1466=) c.2148G>A (p.Arg716=) c.3111G>A (p.Arg1037=) | gnomAD v4 |
| 1 | g.197093194C>A | CA344007378 | ASPM | n.2439G>T c.9152G>T (p.Arg3051Leu) c.9374G>T (p.Arg3125Leu) c.4397G>T (p.Arg1466Leu) c.2147G>T (p.Arg716Leu) c.3110G>T (p.Arg1037Leu) | |
| 1 | g.197093194C= | CA1143568899 | ASPM | n.2439G= c.9152G= (p.Arg3051=) c.9374G= (p.Arg3125=) c.4397G= (p.Arg1466=) c.2147G= (p.Arg716=) c.3110G= (p.Arg1037=) | |
| 1 | g.197093194C>G | CA344007381 | ASPM | n.2439G>C c.9152G>C (p.Arg3051Pro) c.9374G>C (p.Arg3125Pro) c.4397G>C (p.Arg1466Pro) c.2147G>C (p.Arg716Pro) c.3110G>C (p.Arg1037Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197093194C>T | CA1309029 | ASPM | n.2439G>A c.9152G>A (p.Arg3051Gln) c.9374G>A (p.Arg3125Gln) c.4397G>A (p.Arg1466Gln) c.2147G>A (p.Arg716Gln) c.3110G>A (p.Arg1037Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093195G>A | CA1309030 | ASPM | n.2438C>T c.9151C>T (p.Arg3051Trp) c.9373C>T (p.Arg3125Trp) c.4396C>T (p.Arg1466Trp) c.2146C>T (p.Arg716Trp) c.3109C>T (p.Arg1037Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197093195G>C | CA344007393 | ASPM | n.2438C>G c.9151C>G (p.Arg3051Gly) c.9373C>G (p.Arg3125Gly) c.4396C>G (p.Arg1466Gly) c.2146C>G (p.Arg716Gly) c.3109C>G (p.Arg1037Gly) | |
| 1 | g.197093195G= | CA1141841461 | ASPM | n.2438C= c.9151C= (p.Arg3051=) c.9373C= (p.Arg3125=) c.4396C= (p.Arg1466=) c.2146C= (p.Arg716=) c.3109C= (p.Arg1037=) | |
| 1 | g.197093195G>T | CA1309031 | ASPM | n.2438C>A c.9151C>A (p.Arg3051=) c.9373C>A (p.Arg3125=) c.4396C>A (p.Arg1466=) c.2146C>A (p.Arg716=) c.3109C>A (p.Arg1037=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093196A>C | CA422673193 | ASPM | n.2437T>G c.9150T>G (p.Leu3050=) c.9372T>G (p.Leu3124=) c.4395T>G (p.Leu1465=) c.2145T>G (p.Leu715=) c.3108T>G (p.Leu1036=) | |
| 1 | g.197093196A>G | CA422673194 | ASPM | n.2437T>C c.9150T>C (p.Leu3050=) c.9372T>C (p.Leu3124=) c.4395T>C (p.Leu1465=) c.2145T>C (p.Leu715=) c.3108T>C (p.Leu1036=) | |
| 1 | g.197093196A>T | CA422673195 | ASPM | n.2437T>A c.9150T>A (p.Leu3050=) c.9372T>A (p.Leu3124=) c.4395T>A (p.Leu1465=) c.2145T>A (p.Leu715=) c.3108T>A (p.Leu1036=) | |
| 1 | g.197093200_197093203del | CA2649661169 | ASPM | n.2434_2437del c.9147_9150del (p.Leu3050GlyfsTer7) c.9369_9372del (p.Leu3124GlyfsTer7) c.4392_4395del (p.Leu1465GlyfsTer7) c.2142_2145del (p.Leu715GlyfsTer7) c.3105_3108del (p.Leu1036GlyfsTer7) | gnomAD v4 |
| 1 | g.197093197A>C | CA344007399 | ASPM | n.2436T>G c.9149T>G (p.Leu3050Arg) c.9371T>G (p.Leu3124Arg) c.4394T>G (p.Leu1465Arg) c.2144T>G (p.Leu715Arg) c.3107T>G (p.Leu1036Arg) | |
| 1 | g.197093197A>G | CA344007413 | ASPM | n.2436T>C c.9149T>C (p.Leu3050Pro) c.9371T>C (p.Leu3124Pro) c.4394T>C (p.Leu1465Pro) c.2144T>C (p.Leu715Pro) c.3107T>C (p.Leu1036Pro) | |
| 1 | g.197093197A>T | CA344007402 | ASPM | n.2436T>A c.9149T>A (p.Leu3050His) c.9371T>A (p.Leu3124His) c.4394T>A (p.Leu1465His) c.2144T>A (p.Leu715His) c.3107T>A (p.Leu1036His) | |
| 1 | g.197093198G>A | CA344007419 | ASPM | n.2435C>T c.9148C>T (p.Leu3050Phe) c.9370C>T (p.Leu3124Phe) c.4393C>T (p.Leu1465Phe) c.2143C>T (p.Leu715Phe) c.3106C>T (p.Leu1036Phe) | |
| 1 | g.197093198G>C | CA344007425 | ASPM | n.2435C>G c.9148C>G (p.Leu3050Val) c.9370C>G (p.Leu3124Val) c.4393C>G (p.Leu1465Val) c.2143C>G (p.Leu715Val) c.3106C>G (p.Leu1036Val) | |
| 1 | g.197093198G>T | CA344007429 | ASPM | n.2435C>A c.9148C>A (p.Leu3050Ile) c.9370C>A (p.Leu3124Ile) c.4393C>A (p.Leu1465Ile) c.2143C>A (p.Leu715Ile) c.3106C>A (p.Leu1036Ile) | |
| 1 | g.197093199A>C | CA344007432 | ASPM | n.2434T>G c.9147T>G (p.Phe3049Leu) c.9369T>G (p.Phe3123Leu) c.4392T>G (p.Phe1464Leu) c.2142T>G (p.Phe714Leu) c.3105T>G (p.Phe1035Leu) | |
| 1 | g.197093199A>G | CA422673197 | ASPM | n.2434T>C c.9147T>C (p.Phe3049=) c.9369T>C (p.Phe3123=) c.4392T>C (p.Phe1464=) c.2142T>C (p.Phe714=) c.3105T>C (p.Phe1035=) | |
| 1 | g.197093199A>T | CA344007446 | ASPM | n.2434T>A c.9147T>A (p.Phe3049Leu) c.9369T>A (p.Phe3123Leu) c.4392T>A (p.Phe1464Leu) c.2142T>A (p.Phe714Leu) c.3105T>A (p.Phe1035Leu) |