OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197090243A>C | CA344001710 | ASPM | n.3069T>G c.9782T>G (p.Leu3261Trp) c.10004T>G (p.Leu3335Trp) c.9758T>G (p.Leu3253Trp) c.5027T>G (p.Leu1676Trp) c.2777T>G (p.Leu926Trp) c.3740T>G (p.Leu1247Trp) | |
| 1 | g.197090243A>G | CA344001711 | ASPM | n.3069T>C c.9782T>C (p.Leu3261Ser) c.10004T>C (p.Leu3335Ser) c.9758T>C (p.Leu3253Ser) c.5027T>C (p.Leu1676Ser) c.2777T>C (p.Leu926Ser) c.3740T>C (p.Leu1247Ser) | |
| 1 | g.197090243A>T | CA344001712 | ASPM | n.3069T>A c.9782T>A (p.Leu3261Ter) c.10004T>A (p.Leu3335Ter) c.9758T>A (p.Leu3253Ter) c.5027T>A (p.Leu1676Ter) c.2777T>A (p.Leu926Ter) c.3740T>A (p.Leu1247Ter) | |
| 1 | g.197090244A= | CA1149113437 | ASPM | n.3068T= c.9781T= (p.Leu3261=) c.10003T= (p.Leu3335=) c.9757T= (p.Leu3253=) c.5026T= (p.Leu1676=) c.2776T= (p.Leu926=) c.3739T= (p.Leu1247=) | |
| 1 | g.197090244A>C | CA1308865 | ASPM | n.3068T>G c.9781T>G (p.Leu3261Val) c.10003T>G (p.Leu3335Val) c.9757T>G (p.Leu3253Val) c.5026T>G (p.Leu1676Val) c.2776T>G (p.Leu926Val) c.3739T>G (p.Leu1247Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090244A>G | CA422805243 | ASPM | n.3068T>C c.9781T>C (p.Leu3261=) c.10003T>C (p.Leu3335=) c.9757T>C (p.Leu3253=) c.5026T>C (p.Leu1676=) c.2776T>C (p.Leu926=) c.3739T>C (p.Leu1247=) | |
| 1 | g.197090244A>T | CA344001713 | ASPM | n.3068T>A c.9781T>A (p.Leu3261Met) c.10003T>A (p.Leu3335Met) c.9757T>A (p.Leu3253Met) c.5026T>A (p.Leu1676Met) c.2776T>A (p.Leu926Met) c.3739T>A (p.Leu1247Met) | |
| 1 | g.197090245A= | CA1217925164 | ASPM | n.3067T= c.9780T= (p.Leu3260=) c.10002T= (p.Leu3334=) c.9756T= (p.Leu3252=) c.5025T= (p.Leu1675=) c.2775T= (p.Leu925=) c.3738T= (p.Leu1246=) | |
| 1 | g.197090245A>C | CA422805244 | ASPM | n.3067T>G c.9780T>G (p.Leu3260=) c.10002T>G (p.Leu3334=) c.9756T>G (p.Leu3252=) c.5025T>G (p.Leu1675=) c.2775T>G (p.Leu925=) c.3738T>G (p.Leu1246=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090245A>G | CA422805245 | ASPM | n.3067T>C c.9780T>C (p.Leu3260=) c.10002T>C (p.Leu3334=) c.9756T>C (p.Leu3252=) c.5025T>C (p.Leu1675=) c.2775T>C (p.Leu925=) c.3738T>C (p.Leu1246=) | |
| 1 | g.197090245A>T | CA422805247 | ASPM | n.3067T>A c.9780T>A (p.Leu3260=) c.10002T>A (p.Leu3334=) c.9756T>A (p.Leu3252=) c.5025T>A (p.Leu1675=) c.2775T>A (p.Leu925=) c.3738T>A (p.Leu1246=) | |
| 1 | g.197090246A>C | CA344001714 | ASPM | n.3066T>G c.9779T>G (p.Leu3260Arg) c.10001T>G (p.Leu3334Arg) c.9755T>G (p.Leu3252Arg) c.5024T>G (p.Leu1675Arg) c.2774T>G (p.Leu925Arg) c.3737T>G (p.Leu1246Arg) | |
| 1 | g.197090246A>G | CA344001716 | ASPM | n.3066T>C c.9779T>C (p.Leu3260Pro) c.10001T>C (p.Leu3334Pro) c.9755T>C (p.Leu3252Pro) c.5024T>C (p.Leu1675Pro) c.2774T>C (p.Leu925Pro) c.3737T>C (p.Leu1246Pro) | |
| 1 | g.197090246A>T | CA344001715 | ASPM | n.3066T>A c.9779T>A (p.Leu3260His) c.10001T>A (p.Leu3334His) c.9755T>A (p.Leu3252His) c.5024T>A (p.Leu1675His) c.2774T>A (p.Leu925His) c.3737T>A (p.Leu1246His) | |
| 1 | g.197090247G>A | CA344001717 | ASPM | n.3065C>T c.9778C>T (p.Leu3260Phe) c.10000C>T (p.Leu3334Phe) c.9754C>T (p.Leu3252Phe) c.5023C>T (p.Leu1675Phe) c.2773C>T (p.Leu925Phe) c.3736C>T (p.Leu1246Phe) | gnomAD v4 |
| 1 | g.197090247G>C | CA344001718 | ASPM | n.3065C>G c.9778C>G (p.Leu3260Val) c.10000C>G (p.Leu3334Val) c.9754C>G (p.Leu3252Val) c.5023C>G (p.Leu1675Val) c.2773C>G (p.Leu925Val) c.3736C>G (p.Leu1246Val) | |
| 1 | g.197090247G>T | CA344001719 | ASPM | n.3065C>A c.9778C>A (p.Leu3260Ile) c.10000C>A (p.Leu3334Ile) c.9754C>A (p.Leu3252Ile) c.5023C>A (p.Leu1675Ile) c.2773C>A (p.Leu925Ile) c.3736C>A (p.Leu1246Ile) | |
| 1 | g.197090248G>A | CA422805251 | ASPM | n.3064C>T c.9777C>T (p.Tyr3259=) c.9999C>T (p.Tyr3333=) c.9753C>T (p.Tyr3251=) c.5022C>T (p.Tyr1674=) c.2772C>T (p.Tyr924=) c.3735C>T (p.Tyr1245=) | |
| 1 | g.197090248G>C | CA344001720 | ASPM | n.3064C>G c.9777C>G (p.Tyr3259Ter) c.9999C>G (p.Tyr3333Ter) c.9753C>G (p.Tyr3251Ter) c.5022C>G (p.Tyr1674Ter) c.2772C>G (p.Tyr924Ter) c.3735C>G (p.Tyr1245Ter) | |
| 1 | g.197090248G>T | CA344001721 | ASPM | n.3064C>A c.9777C>A (p.Tyr3259Ter) c.9999C>A (p.Tyr3333Ter) c.9753C>A (p.Tyr3251Ter) c.5022C>A (p.Tyr1674Ter) c.2772C>A (p.Tyr924Ter) c.3735C>A (p.Tyr1245Ter) | |
| 1 | g.197090249T>A | CA344001722 | ASPM | n.3063A>T c.9776A>T (p.Tyr3259Phe) c.9998A>T (p.Tyr3333Phe) c.9752A>T (p.Tyr3251Phe) c.5021A>T (p.Tyr1674Phe) c.2771A>T (p.Tyr924Phe) c.3734A>T (p.Tyr1245Phe) | |
| 1 | g.197090249T>C | CA35861945 | ASPM | n.3063A>G c.9776A>G (p.Tyr3259Cys) c.9998A>G (p.Tyr3333Cys) c.9752A>G (p.Tyr3251Cys) c.5021A>G (p.Tyr1674Cys) c.2771A>G (p.Tyr924Cys) c.3734A>G (p.Tyr1245Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090249T>G | CA344001723 | ASPM | n.3063A>C c.9776A>C (p.Tyr3259Ser) c.9998A>C (p.Tyr3333Ser) c.9752A>C (p.Tyr3251Ser) c.5021A>C (p.Tyr1674Ser) c.2771A>C (p.Tyr924Ser) c.3734A>C (p.Tyr1245Ser) | |
| 1 | g.197090249T= | CA1217925166 | ASPM | n.3063A= c.9776A= (p.Tyr3259=) c.9998A= (p.Tyr3333=) c.9752A= (p.Tyr3251=) c.5021A= (p.Tyr1674=) c.2771A= (p.Tyr924=) c.3734A= (p.Tyr1245=) | |
| 1 | g.197090250A>C | CA344001724 | ASPM | n.3062T>G c.9775T>G (p.Tyr3259Asp) c.9997T>G (p.Tyr3333Asp) c.9751T>G (p.Tyr3251Asp) c.5020T>G (p.Tyr1674Asp) c.2770T>G (p.Tyr924Asp) c.3733T>G (p.Tyr1245Asp) | |
| 1 | g.197090250A>G | CA344001725 | ASPM | n.3062T>C c.9775T>C (p.Tyr3259His) c.9997T>C (p.Tyr3333His) c.9751T>C (p.Tyr3251His) c.5020T>C (p.Tyr1674His) c.2770T>C (p.Tyr924His) c.3733T>C (p.Tyr1245His) | |
| 1 | g.197090250A>T | CA344001726 | ASPM | n.3062T>A c.9775T>A (p.Tyr3259Asn) c.9997T>A (p.Tyr3333Asn) c.9751T>A (p.Tyr3251Asn) c.5020T>A (p.Tyr1674Asn) c.2770T>A (p.Tyr924Asn) c.3733T>A (p.Tyr1245Asn) | |
| 1 | g.197090250_197090251insGTTTTTCATTTT | CA2558727805 | ASPM | n.3061_3062insAAAATGAAAAAC c.9774_9775insAAAATGAAAAAC (p.His3258_Tyr3259insLysMetLysAsn) c.9996_9997insAAAATGAAAAAC (p.His3332_Tyr3333insLysMetLysAsn) c.9750_9751insAAAATGAAAAAC (p.His3250_Tyr3251insLysMetLysAsn) c.5019_5020insAAAATGAAAAAC (p.His1673_Tyr1674insLysMetLysAsn) c.2769_2770insAAAATGAAAAAC (p.His923_Tyr924insLysMetLysAsn) c.3732_3733insAAAATGAAAAAC (p.His1244_Tyr1245insLysMetLysAsn) | |
| 1 | g.197090251A>C | CA344001727 | ASPM | n.3061T>G c.9774T>G (p.His3258Gln) c.9996T>G (p.His3332Gln) c.9750T>G (p.His3250Gln) c.5019T>G (p.His1673Gln) c.2769T>G (p.His923Gln) c.3732T>G (p.His1244Gln) | |
| 1 | g.197090251A>G | CA422805260 | ASPM | n.3061T>C c.9774T>C (p.His3258=) c.9996T>C (p.His3332=) c.9750T>C (p.His3250=) c.5019T>C (p.His1673=) c.2769T>C (p.His923=) c.3732T>C (p.His1244=) | gnomAD v4 |
| 1 | g.197090251A>T | CA344001728 | ASPM | n.3061T>A c.9774T>A (p.His3258Gln) c.9996T>A (p.His3332Gln) c.9750T>A (p.His3250Gln) c.5019T>A (p.His1673Gln) c.2769T>A (p.His923Gln) c.3732T>A (p.His1244Gln) | COSMIC |
| 1 | g.197090252T>A | CA344001729 | ASPM | n.3060A>T c.9773A>T (p.His3258Leu) c.9995A>T (p.His3332Leu) c.9749A>T (p.His3250Leu) c.5018A>T (p.His1673Leu) c.2768A>T (p.His923Leu) c.3731A>T (p.His1244Leu) | |
| 1 | g.197090252T>C | CA171281 | ASPM | n.3060A>G c.9773A>G (p.His3258Arg) c.9995A>G (p.His3332Arg) c.9749A>G (p.His3250Arg) c.5018A>G (p.His1673Arg) c.2768A>G (p.His923Arg) c.3731A>G (p.His1244Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090252T>G | CA35861951 | ASPM | n.3060A>C c.9773A>C (p.His3258Pro) c.9995A>C (p.His3332Pro) c.9749A>C (p.His3250Pro) c.5018A>C (p.His1673Pro) c.2768A>C (p.His923Pro) c.3731A>C (p.His1244Pro) | dbSNP |
| 1 | g.197090252T= | CA1140137432 | ASPM | n.3060A= c.9773A= (p.His3258=) c.9995A= (p.His3332=) c.9749A= (p.His3250=) c.5018A= (p.His1673=) c.2768A= (p.His923=) c.3731A= (p.His1244=) | |
| 1 | g.197090253G>A | CA344001730 | ASPM | n.3059C>T c.9772C>T (p.His3258Tyr) c.9994C>T (p.His3332Tyr) c.9748C>T (p.His3250Tyr) c.5017C>T (p.His1673Tyr) c.2767C>T (p.His923Tyr) c.3730C>T (p.His1244Tyr) | dbSNP gnomAD v4 |
| 1 | g.197090253G>C | CA344001731 | ASPM | n.3059C>G c.9772C>G (p.His3258Asp) c.9994C>G (p.His3332Asp) c.9748C>G (p.His3250Asp) c.5017C>G (p.His1673Asp) c.2767C>G (p.His923Asp) c.3730C>G (p.His1244Asp) | |
| 1 | g.197090253G= | CA1217925176 | ASPM | n.3059C= c.9772C= (p.His3258=) c.9994C= (p.His3332=) c.9748C= (p.His3250=) c.5017C= (p.His1673=) c.2767C= (p.His923=) c.3730C= (p.His1244=) | |
| 1 | g.197090253G>T | CA344001732 | ASPM | n.3059C>A c.9772C>A (p.His3258Asn) c.9994C>A (p.His3332Asn) c.9748C>A (p.His3250Asn) c.5017C>A (p.His1673Asn) c.2767C>A (p.His923Asn) c.3730C>A (p.His1244Asn) | gnomAD v3 gnomAD v4 |
| 1 | g.197090254A>C | CA422805272 | ASPM | n.3058T>G c.9771T>G (p.Leu3257=) c.9993T>G (p.Leu3331=) c.9747T>G (p.Leu3249=) c.5016T>G (p.Leu1672=) c.2766T>G (p.Leu922=) c.3729T>G (p.Leu1243=) | |
| 1 | g.197090254A>G | CA422805267 | ASPM | n.3058T>C c.9771T>C (p.Leu3257=) c.9993T>C (p.Leu3331=) c.9747T>C (p.Leu3249=) c.5016T>C (p.Leu1672=) c.2766T>C (p.Leu922=) c.3729T>C (p.Leu1243=) | |
| 1 | g.197090254A>T | CA422805269 | ASPM | n.3058T>A c.9771T>A (p.Leu3257=) c.9993T>A (p.Leu3331=) c.9747T>A (p.Leu3249=) c.5016T>A (p.Leu1672=) c.2766T>A (p.Leu922=) c.3729T>A (p.Leu1243=) | |
| 1 | g.197090255A= | CA1217925177 | ASPM | n.3057T= c.9770T= (p.Leu3257=) c.9992T= (p.Leu3331=) c.9746T= (p.Leu3249=) c.5015T= (p.Leu1672=) c.2765T= (p.Leu922=) c.3728T= (p.Leu1243=) | |
| 1 | g.197090255A>C | CA344001733 | ASPM | n.3057T>G c.9770T>G (p.Leu3257Arg) c.9992T>G (p.Leu3331Arg) c.9746T>G (p.Leu3249Arg) c.5015T>G (p.Leu1672Arg) c.2765T>G (p.Leu922Arg) c.3728T>G (p.Leu1243Arg) | |
| 1 | g.197090255A>G | CA344001734 | ASPM | n.3057T>C c.9770T>C (p.Leu3257Pro) c.9992T>C (p.Leu3331Pro) c.9746T>C (p.Leu3249Pro) c.5015T>C (p.Leu1672Pro) c.2765T>C (p.Leu922Pro) c.3728T>C (p.Leu1243Pro) | |
| 1 | g.197090255A>T | CA344001735 | ASPM | n.3057T>A c.9770T>A (p.Leu3257His) c.9992T>A (p.Leu3331His) c.9746T>A (p.Leu3249His) c.5015T>A (p.Leu1672His) c.2765T>A (p.Leu922His) c.3728T>A (p.Leu1243His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090255_197090258del | CA2649660638 | ASPM | n.3054_3057del c.9767_9770del (p.Ala3256ValfsTer5) c.9989_9992del (p.Ala3330ValfsTer5) c.9743_9746del (p.Ala3248ValfsTer5) c.5012_5015del (p.Ala1671ValfsTer5) c.2762_2765del (p.Ala921ValfsTer5) c.3725_3728del (p.Ala1242ValfsTer5) | gnomAD v4 |
| 1 | g.197090256G>A | CA344001736 | ASPM | n.3056C>T c.9769C>T (p.Leu3257Phe) c.9991C>T (p.Leu3331Phe) c.9745C>T (p.Leu3249Phe) c.5014C>T (p.Leu1672Phe) c.2764C>T (p.Leu922Phe) c.3727C>T (p.Leu1243Phe) | dbSNP |
| 1 | g.197090256G>C | CA344001737 | ASPM | n.3056C>G c.9769C>G (p.Leu3257Val) c.9991C>G (p.Leu3331Val) c.9745C>G (p.Leu3249Val) c.5014C>G (p.Leu1672Val) c.2764C>G (p.Leu922Val) c.3727C>G (p.Leu1243Val) | |
| 1 | g.197090256G= | CA1217925180 | ASPM | n.3056C= c.9769C= (p.Leu3257=) c.9991C= (p.Leu3331=) c.9745C= (p.Leu3249=) c.5014C= (p.Leu1672=) c.2764C= (p.Leu922=) c.3727C= (p.Leu1243=) | |
| 1 | g.197090256G>T | CA344001738 | ASPM | n.3056C>A c.9769C>A (p.Leu3257Ile) c.9991C>A (p.Leu3331Ile) c.9745C>A (p.Leu3249Ile) c.5014C>A (p.Leu1672Ile) c.2764C>A (p.Leu922Ile) c.3727C>A (p.Leu1243Ile) | |
| 1 | g.197090257T>A | CA422805277 | ASPM | n.3055A>T c.9768A>T (p.Ala3256=) c.9990A>T (p.Ala3330=) c.9744A>T (p.Ala3248=) c.5013A>T (p.Ala1671=) c.2763A>T (p.Ala921=) c.3726A>T (p.Ala1242=) | |
| 1 | g.197090257T>C | CA422805278 | ASPM | n.3055A>G c.9768A>G (p.Ala3256=) c.9990A>G (p.Ala3330=) c.9744A>G (p.Ala3248=) c.5013A>G (p.Ala1671=) c.2763A>G (p.Ala921=) c.3726A>G (p.Ala1242=) | |
| 1 | g.197090257T>G | CA1308866 | ASPM | n.3055A>C c.9768A>C (p.Ala3256=) c.9990A>C (p.Ala3330=) c.9744A>C (p.Ala3248=) c.5013A>C (p.Ala1671=) c.2763A>C (p.Ala921=) c.3726A>C (p.Ala1242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090257T= | CA1217925182 | ASPM | n.3055A= c.9768A= (p.Ala3256=) c.9990A= (p.Ala3330=) c.9744A= (p.Ala3248=) c.5013A= (p.Ala1671=) c.2763A= (p.Ala921=) c.3726A= (p.Ala1242=) | |
| 1 | g.197090258G>A | CA344001741 | ASPM | n.3054C>T c.9767C>T (p.Ala3256Val) c.9989C>T (p.Ala3330Val) c.9743C>T (p.Ala3248Val) c.5012C>T (p.Ala1671Val) c.2762C>T (p.Ala921Val) c.3725C>T (p.Ala1242Val) | gnomAD v4 |
| 1 | g.197090258G>C | CA344001740 | ASPM | n.3054C>G c.9767C>G (p.Ala3256Gly) c.9989C>G (p.Ala3330Gly) c.9743C>G (p.Ala3248Gly) c.5012C>G (p.Ala1671Gly) c.2762C>G (p.Ala921Gly) c.3725C>G (p.Ala1242Gly) | gnomAD v4 |
| 1 | g.197090258G>T | CA344001739 | ASPM | n.3054C>A c.9767C>A (p.Ala3256Glu) c.9989C>A (p.Ala3330Glu) c.9743C>A (p.Ala3248Glu) c.5012C>A (p.Ala1671Glu) c.2762C>A (p.Ala921Glu) c.3725C>A (p.Ala1242Glu) | |
| 1 | g.197090259C>A | CA344001742 | ASPM | n.3053G>T c.9766G>T (p.Ala3256Ser) c.9988G>T (p.Ala3330Ser) c.9742G>T (p.Ala3248Ser) c.5011G>T (p.Ala1671Ser) c.2761G>T (p.Ala921Ser) c.3724G>T (p.Ala1242Ser) | |
| 1 | g.197090259C= | CA1148879276 | ASPM | n.3053G= c.9766G= (p.Ala3256=) c.9988G= (p.Ala3330=) c.9742G= (p.Ala3248=) c.5011G= (p.Ala1671=) c.2761G= (p.Ala921=) c.3724G= (p.Ala1242=) | |
| 1 | g.197090259C>G | CA344001743 | ASPM | n.3053G>C c.9766G>C (p.Ala3256Pro) c.9988G>C (p.Ala3330Pro) c.9742G>C (p.Ala3248Pro) c.5011G>C (p.Ala1671Pro) c.2761G>C (p.Ala921Pro) c.3724G>C (p.Ala1242Pro) | |
| 1 | g.197090259C>T | CA1308867 | ASPM | n.3053G>A c.9766G>A (p.Ala3256Thr) c.9988G>A (p.Ala3330Thr) c.9742G>A (p.Ala3248Thr) c.5011G>A (p.Ala1671Thr) c.2761G>A (p.Ala921Thr) c.3724G>A (p.Ala1242Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090260A>C | CA422805284 | ASPM | n.3052T>G c.9765T>G (p.Leu3255=) c.9987T>G (p.Leu3329=) c.9741T>G (p.Leu3247=) c.5010T>G (p.Leu1670=) c.2760T>G (p.Leu920=) c.3723T>G (p.Leu1241=) | |
| 1 | g.197090260A>G | CA422805285 | ASPM | n.3052T>C c.9765T>C (p.Leu3255=) c.9987T>C (p.Leu3329=) c.9741T>C (p.Leu3247=) c.5010T>C (p.Leu1670=) c.2760T>C (p.Leu920=) c.3723T>C (p.Leu1241=) | |
| 1 | g.197090260A>T | CA422805286 | ASPM | n.3052T>A c.9765T>A (p.Leu3255=) c.9987T>A (p.Leu3329=) c.9741T>A (p.Leu3247=) c.5010T>A (p.Leu1670=) c.2760T>A (p.Leu920=) c.3723T>A (p.Leu1241=) | |
| 1 | g.197090260_197090261dup | CA2649660639 | ASPM | n.3051_3052dup c.9764_9765dup (p.Ala3256LeufsTer7) c.9986_9987dup (p.Ala3330LeufsTer7) c.9740_9741dup (p.Ala3248LeufsTer7) c.5009_5010dup (p.Ala1671LeufsTer7) c.2759_2760dup (p.Ala921LeufsTer7) c.3722_3723dup (p.Ala1242LeufsTer7) | gnomAD v4 |
| 1 | g.197090261A>C | CA344001744 | ASPM | n.3051T>G c.9764T>G (p.Leu3255Arg) c.9986T>G (p.Leu3329Arg) c.9740T>G (p.Leu3247Arg) c.5009T>G (p.Leu1670Arg) c.2759T>G (p.Leu920Arg) c.3722T>G (p.Leu1241Arg) | |
| 1 | g.197090261A>G | CA344001745 | ASPM | n.3051T>C c.9764T>C (p.Leu3255Pro) c.9986T>C (p.Leu3329Pro) c.9740T>C (p.Leu3247Pro) c.5009T>C (p.Leu1670Pro) c.2759T>C (p.Leu920Pro) c.3722T>C (p.Leu1241Pro) | |
| 1 | g.197090261A>T | CA344001746 | ASPM | n.3051T>A c.9764T>A (p.Leu3255His) c.9986T>A (p.Leu3329His) c.9740T>A (p.Leu3247His) c.5009T>A (p.Leu1670His) c.2759T>A (p.Leu920His) c.3722T>A (p.Leu1241His) | |
| 1 | g.197090261_197090262delinsAG | CA1217925186 | ASPM | n.3050_3051delinsCT c.9763_9764delinsCT (p.Leu3255=) c.9985_9986delinsCT (p.Leu3329=) c.9739_9740delinsCT (p.Leu3247=) c.5008_5009delinsCT (p.Leu1670=) c.2758_2759delinsCT (p.Leu920=) c.3721_3722delinsCT (p.Leu1241=) | |
| 1 | g.197090262del | CA35861957 | ASPM | n.3050del c.9763del (p.Ala3256HisfsTer6) c.9985del (p.Ala3330HisfsTer6) c.9739del (p.Ala3248HisfsTer6) c.5008del (p.Ala1671HisfsTer6) c.2758del (p.Ala921HisfsTer6) c.3721del (p.Ala1242HisfsTer6) | dbSNP |
| 1 | g.197090262G>A | CA1308868 | ASPM | n.3050C>T c.9763C>T (p.Leu3255Phe) c.9985C>T (p.Leu3329Phe) c.9739C>T (p.Leu3247Phe) c.5008C>T (p.Leu1670Phe) c.2758C>T (p.Leu920Phe) c.3721C>T (p.Leu1241Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090262G>C | CA344001747 | ASPM | n.3050C>G c.9763C>G (p.Leu3255Val) c.9985C>G (p.Leu3329Val) c.9739C>G (p.Leu3247Val) c.5008C>G (p.Leu1670Val) c.2758C>G (p.Leu920Val) c.3721C>G (p.Leu1241Val) | gnomAD v4 |
| 1 | g.197090262G= | CA1142387261 | ASPM | n.3050C= c.9763C= (p.Leu3255=) c.9985C= (p.Leu3329=) c.9739C= (p.Leu3247=) c.5008C= (p.Leu1670=) c.2758C= (p.Leu920=) c.3721C= (p.Leu1241=) | |
| 1 | g.197090262G>T | CA344001748 | ASPM | n.3050C>A c.9763C>A (p.Leu3255Ile) c.9985C>A (p.Leu3329Ile) c.9739C>A (p.Leu3247Ile) c.5008C>A (p.Leu1670Ile) c.2758C>A (p.Leu920Ile) c.3721C>A (p.Leu1241Ile) | |
| 1 | g.197090263T>A | CA422805297 | ASPM | n.3049A>T c.9762A>T (p.Ala3254=) c.9984A>T (p.Ala3328=) c.9738A>T (p.Ala3246=) c.5007A>T (p.Ala1669=) c.2757A>T (p.Ala919=) c.3720A>T (p.Ala1240=) | |
| 1 | g.197090263T>C | CA422805298 | ASPM | n.3049A>G c.9762A>G (p.Ala3254=) c.9984A>G (p.Ala3328=) c.9738A>G (p.Ala3246=) c.5007A>G (p.Ala1669=) c.2757A>G (p.Ala919=) c.3720A>G (p.Ala1240=) | dbSNP |
| 1 | g.197090263T>G | CA422805299 | ASPM | n.3049A>C c.9762A>C (p.Ala3254=) c.9984A>C (p.Ala3328=) c.9738A>C (p.Ala3246=) c.5007A>C (p.Ala1669=) c.2757A>C (p.Ala919=) c.3720A>C (p.Ala1240=) | |
| 1 | g.197090263T= | CA1217925192 | ASPM | n.3049A= c.9762A= (p.Ala3254=) c.9984A= (p.Ala3328=) c.9738A= (p.Ala3246=) c.5007A= (p.Ala1669=) c.2757A= (p.Ala919=) c.3720A= (p.Ala1240=) | |
| 1 | g.197090264G>A | CA344001749 | ASPM | n.3048C>T c.9761C>T (p.Ala3254Val) c.9983C>T (p.Ala3328Val) c.9737C>T (p.Ala3246Val) c.5006C>T (p.Ala1669Val) c.2756C>T (p.Ala919Val) c.3719C>T (p.Ala1240Val) | |
| 1 | g.197090264G>C | CA344001750 | ASPM | n.3048C>G c.9761C>G (p.Ala3254Gly) c.9983C>G (p.Ala3328Gly) c.9737C>G (p.Ala3246Gly) c.5006C>G (p.Ala1669Gly) c.2756C>G (p.Ala919Gly) c.3719C>G (p.Ala1240Gly) | |
| 1 | g.197090264G>T | CA344001751 | ASPM | n.3048C>A c.9761C>A (p.Ala3254Glu) c.9983C>A (p.Ala3328Glu) c.9737C>A (p.Ala3246Glu) c.5006C>A (p.Ala1669Glu) c.2756C>A (p.Ala919Glu) c.3719C>A (p.Ala1240Glu) | |
| 1 | g.197090265C>A | CA344001753 | ASPM | n.3047G>T c.9760G>T (p.Ala3254Ser) c.9982G>T (p.Ala3328Ser) c.9736G>T (p.Ala3246Ser) c.5005G>T (p.Ala1669Ser) c.2755G>T (p.Ala919Ser) c.3718G>T (p.Ala1240Ser) | |
| 1 | g.197090265C= | CA1217925194 | ASPM | n.3047G= c.9760G= (p.Ala3254=) c.9982G= (p.Ala3328=) c.9736G= (p.Ala3246=) c.5005G= (p.Ala1669=) c.2755G= (p.Ala919=) c.3718G= (p.Ala1240=) | |
| 1 | g.197090265C>G | CA344001754 | ASPM | n.3047G>C c.9760G>C (p.Ala3254Pro) c.9982G>C (p.Ala3328Pro) c.9736G>C (p.Ala3246Pro) c.5005G>C (p.Ala1669Pro) c.2755G>C (p.Ala919Pro) c.3718G>C (p.Ala1240Pro) | |
| 1 | g.197090265C>T | CA344001752 | ASPM | n.3047G>A c.9760G>A (p.Ala3254Thr) c.9982G>A (p.Ala3328Thr) c.9736G>A (p.Ala3246Thr) c.5005G>A (p.Ala1669Thr) c.2755G>A (p.Ala919Thr) c.3718G>A (p.Ala1240Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090266A>C | CA422805303 | ASPM | n.3046T>G c.9759T>G (p.Thr3253=) c.9981T>G (p.Thr3327=) c.9735T>G (p.Thr3245=) c.5004T>G (p.Thr1668=) c.2754T>G (p.Thr918=) c.3717T>G (p.Thr1239=) | |
| 1 | g.197090266A>G | CA422805304 | ASPM | n.3046T>C c.9759T>C (p.Thr3253=) c.9981T>C (p.Thr3327=) c.9735T>C (p.Thr3245=) c.5004T>C (p.Thr1668=) c.2754T>C (p.Thr918=) c.3717T>C (p.Thr1239=) | |
| 1 | g.197090266A>T | CA422805305 | ASPM | n.3046T>A c.9759T>A (p.Thr3253=) c.9981T>A (p.Thr3327=) c.9735T>A (p.Thr3245=) c.5004T>A (p.Thr1668=) c.2754T>A (p.Thr918=) c.3717T>A (p.Thr1239=) | |
| 1 | g.197090267G>A | CA344001755 | ASPM | n.3045C>T c.9758C>T (p.Thr3253Ile) c.9980C>T (p.Thr3327Ile) c.9734C>T (p.Thr3245Ile) c.5003C>T (p.Thr1668Ile) c.2753C>T (p.Thr918Ile) c.3716C>T (p.Thr1239Ile) | |
| 1 | g.197090267G>C | CA344001756 | ASPM | n.3045C>G c.9758C>G (p.Thr3253Ser) c.9980C>G (p.Thr3327Ser) c.9734C>G (p.Thr3245Ser) c.5003C>G (p.Thr1668Ser) c.2753C>G (p.Thr918Ser) c.3716C>G (p.Thr1239Ser) | |
| 1 | g.197090267G>T | CA344001757 | ASPM | n.3045C>A c.9758C>A (p.Thr3253Asn) c.9980C>A (p.Thr3327Asn) c.9734C>A (p.Thr3245Asn) c.5003C>A (p.Thr1668Asn) c.2753C>A (p.Thr918Asn) c.3716C>A (p.Thr1239Asn) | |
| 1 | g.197090268T>A | CA344001758 | ASPM | n.3044A>T c.9757A>T (p.Thr3253Ser) c.9979A>T (p.Thr3327Ser) c.9733A>T (p.Thr3245Ser) c.5002A>T (p.Thr1668Ser) c.2752A>T (p.Thr918Ser) c.3715A>T (p.Thr1239Ser) | |
| 1 | g.197090268T>C | CA344001759 | ASPM | n.3044A>G c.9757A>G (p.Thr3253Ala) c.9979A>G (p.Thr3327Ala) c.9733A>G (p.Thr3245Ala) c.5002A>G (p.Thr1668Ala) c.2752A>G (p.Thr918Ala) c.3715A>G (p.Thr1239Ala) | |
| 1 | g.197090268T>G | CA344001760 | ASPM | n.3044A>C c.9757A>C (p.Thr3253Pro) c.9979A>C (p.Thr3327Pro) c.9733A>C (p.Thr3245Pro) c.5002A>C (p.Thr1668Pro) c.2752A>C (p.Thr918Pro) c.3715A>C (p.Thr1239Pro) | |
| 1 | g.197090269T>A | CA344001761 | ASPM | n.3043A>T c.9756A>T (p.Arg3252Ser) c.9978A>T (p.Arg3326Ser) c.9732A>T (p.Arg3244Ser) c.5001A>T (p.Arg1667Ser) c.2751A>T (p.Arg917Ser) c.3714A>T (p.Arg1238Ser) | |
| 1 | g.197090269T>C | CA422805312 | ASPM | n.3043A>G c.9756A>G (p.Arg3252=) c.9978A>G (p.Arg3326=) c.9732A>G (p.Arg3244=) c.5001A>G (p.Arg1667=) c.2751A>G (p.Arg917=) c.3714A>G (p.Arg1238=) | |
| 1 | g.197090269T>G | CA344001762 | ASPM | n.3043A>C c.9756A>C (p.Arg3252Ser) c.9978A>C (p.Arg3326Ser) c.9732A>C (p.Arg3244Ser) c.5001A>C (p.Arg1667Ser) c.2751A>C (p.Arg917Ser) c.3714A>C (p.Arg1238Ser) | |
| 1 | g.197090270C>A | CA344001763 | ASPM | n.3042G>T c.9755G>T (p.Arg3252Ile) c.9977G>T (p.Arg3326Ile) c.9731G>T (p.Arg3244Ile) c.5000G>T (p.Arg1667Ile) c.2750G>T (p.Arg917Ile) c.3713G>T (p.Arg1238Ile) | |
| 1 | g.197090270C>G | CA344001764 | ASPM | n.3042G>C c.9755G>C (p.Arg3252Thr) c.9977G>C (p.Arg3326Thr) c.9731G>C (p.Arg3244Thr) c.5000G>C (p.Arg1667Thr) c.2750G>C (p.Arg917Thr) c.3713G>C (p.Arg1238Thr) | |
| 1 | g.197090270C>T | CA344001765 | ASPM | n.3042G>A c.9755G>A (p.Arg3252Lys) c.9977G>A (p.Arg3326Lys) c.9731G>A (p.Arg3244Lys) c.5000G>A (p.Arg1667Lys) c.2750G>A (p.Arg917Lys) c.3713G>A (p.Arg1238Lys) | |
| 1 | g.197090270_197090271delinsCT | CA1217925198 | ASPM | n.3041_3042delinsAG c.9754_9755delinsAG (p.Arg3252=) c.9976_9977delinsAG (p.Arg3326=) c.9730_9731delinsAG (p.Arg3244=) c.4999_5000delinsAG (p.Arg1667=) c.2749_2750delinsAG (p.Arg917=) c.3712_3713delinsAG (p.Arg1238=) | |
| 1 | g.197090271T>A | CA344001766 | ASPM | n.3041A>T c.9754A>T (p.Arg3252Ter) c.9976A>T (p.Arg3326Ter) c.9730A>T (p.Arg3244Ter) c.4999A>T (p.Arg1667Ter) c.2749A>T (p.Arg917Ter) c.3712A>T (p.Arg1238Ter) | |
| 1 | g.197090271T>C | CA344001767 | ASPM | n.3041A>G c.9754A>G (p.Arg3252Gly) c.9976A>G (p.Arg3326Gly) c.9730A>G (p.Arg3244Gly) c.4999A>G (p.Arg1667Gly) c.2749A>G (p.Arg917Gly) c.3712A>G (p.Arg1238Gly) | |
| 1 | g.197090271T>G | CA422805316 | ASPM | n.3041A>C c.9754A>C (p.Arg3252=) c.9976A>C (p.Arg3326=) c.9730A>C (p.Arg3244=) c.4999A>C (p.Arg1667=) c.2749A>C (p.Arg917=) c.3712A>C (p.Arg1238=) | |
| 1 | g.197090271_197090274delinsTTTT | CA1143355783 | ASPM | n.3038_3041delinsAAAA c.9751_9754delinsAAAA (p.Lys3251=) c.9973_9976delinsAAAA (p.Lys3325=) c.9727_9730delinsAAAA (p.Lys3243=) c.4996_4999delinsAAAA (p.Lys1666=) c.2746_2749delinsAAAA (p.Lys916=) c.3709_3712delinsAAAA (p.Lys1237=) | |
| 1 | g.197090274del | CA342312 | ASPM | n.3041del c.9754del (p.Arg3252GlufsTer10) c.9976del (p.Arg3326GlufsTer10) c.9730del (p.Arg3244GlufsTer10) c.4999del (p.Arg1667GlufsTer10) c.2749del (p.Arg917GlufsTer10) c.3712del (p.Arg1238GlufsTer10) | ClinVar dbSNP |
| 1 | g.197090272T>A | CA344001768 | ASPM | n.3040A>T c.9753A>T (p.Lys3251Asn) c.9975A>T (p.Lys3325Asn) c.9729A>T (p.Lys3243Asn) c.4998A>T (p.Lys1666Asn) c.2748A>T (p.Lys916Asn) c.3711A>T (p.Lys1237Asn) | |
| 1 | g.197090272T>C | CA422805317 | ASPM | n.3040A>G c.9753A>G (p.Lys3251=) c.9975A>G (p.Lys3325=) c.9729A>G (p.Lys3243=) c.4998A>G (p.Lys1666=) c.2748A>G (p.Lys916=) c.3711A>G (p.Lys1237=) | |
| 1 | g.197090272T>G | CA344001769 | ASPM | n.3040A>C c.9753A>C (p.Lys3251Asn) c.9975A>C (p.Lys3325Asn) c.9729A>C (p.Lys3243Asn) c.4998A>C (p.Lys1666Asn) c.2748A>C (p.Lys916Asn) c.3711A>C (p.Lys1237Asn) | |
| 1 | g.197090273T>A | CA344001770 | ASPM | n.3039A>T c.9752A>T (p.Lys3251Ile) c.9974A>T (p.Lys3325Ile) c.9728A>T (p.Lys3243Ile) c.4997A>T (p.Lys1666Ile) c.2747A>T (p.Lys916Ile) c.3710A>T (p.Lys1237Ile) | |
| 1 | g.197090273T>C | CA35861967 | ASPM | n.3039A>G c.9752A>G (p.Lys3251Arg) c.9974A>G (p.Lys3325Arg) c.9728A>G (p.Lys3243Arg) c.4997A>G (p.Lys1666Arg) c.2747A>G (p.Lys916Arg) c.3710A>G (p.Lys1237Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090273T>G | CA344001771 | ASPM | n.3039A>C c.9752A>C (p.Lys3251Thr) c.9974A>C (p.Lys3325Thr) c.9728A>C (p.Lys3243Thr) c.4997A>C (p.Lys1666Thr) c.2747A>C (p.Lys916Thr) c.3710A>C (p.Lys1237Thr) | gnomAD v4 |
| 1 | g.197090273T= | CA1147571749 | ASPM | n.3039A= c.9752A= (p.Lys3251=) c.9974A= (p.Lys3325=) c.9728A= (p.Lys3243=) c.4997A= (p.Lys1666=) c.2747A= (p.Lys916=) c.3710A= (p.Lys1237=) | |
| 1 | g.197090274T>A | CA344001772 | ASPM | n.3038A>T c.9751A>T (p.Lys3251Ter) c.9973A>T (p.Lys3325Ter) c.9727A>T (p.Lys3243Ter) c.4996A>T (p.Lys1666Ter) c.2746A>T (p.Lys916Ter) c.3709A>T (p.Lys1237Ter) | |
| 1 | g.197090274T>C | CA344001774 | ASPM | n.3038A>G c.9751A>G (p.Lys3251Glu) c.9973A>G (p.Lys3325Glu) c.9727A>G (p.Lys3243Glu) c.4996A>G (p.Lys1666Glu) c.2746A>G (p.Lys916Glu) c.3709A>G (p.Lys1237Glu) | |
| 1 | g.197090274T>G | CA344001773 | ASPM | n.3038A>C c.9751A>C (p.Lys3251Gln) c.9973A>C (p.Lys3325Gln) c.9727A>C (p.Lys3243Gln) c.4996A>C (p.Lys1666Gln) c.2746A>C (p.Lys916Gln) c.3709A>C (p.Lys1237Gln) | |
| 1 | g.197090275G>A | CA422805324 | ASPM | n.3037C>T c.9750C>T (p.Tyr3250=) c.9972C>T (p.Tyr3324=) c.9726C>T (p.Tyr3242=) c.4995C>T (p.Tyr1665=) c.2745C>T (p.Tyr915=) c.3708C>T (p.Tyr1236=) | |
| 1 | g.197090275G>C | CA344001775 | ASPM | n.3037C>G c.9750C>G (p.Tyr3250Ter) c.9972C>G (p.Tyr3324Ter) c.9726C>G (p.Tyr3242Ter) c.4995C>G (p.Tyr1665Ter) c.2745C>G (p.Tyr915Ter) c.3708C>G (p.Tyr1236Ter) | |
| 1 | g.197090275G>T | CA344001776 | ASPM | n.3037C>A c.9750C>A (p.Tyr3250Ter) c.9972C>A (p.Tyr3324Ter) c.9726C>A (p.Tyr3242Ter) c.4995C>A (p.Tyr1665Ter) c.2745C>A (p.Tyr915Ter) c.3708C>A (p.Tyr1236Ter) | |
| 1 | g.197090276T>A | CA344001777 | ASPM | n.3036A>T c.9749A>T (p.Tyr3250Phe) c.9971A>T (p.Tyr3324Phe) c.9725A>T (p.Tyr3242Phe) c.4994A>T (p.Tyr1665Phe) c.2744A>T (p.Tyr915Phe) c.3707A>T (p.Tyr1236Phe) | |
| 1 | g.197090276T>C | CA344001778 | ASPM | n.3036A>G c.9749A>G (p.Tyr3250Cys) c.9971A>G (p.Tyr3324Cys) c.9725A>G (p.Tyr3242Cys) c.4994A>G (p.Tyr1665Cys) c.2744A>G (p.Tyr915Cys) c.3707A>G (p.Tyr1236Cys) | gnomAD v4 |
| 1 | g.197090276T>G | CA344001779 | ASPM | n.3036A>C c.9749A>C (p.Tyr3250Ser) c.9971A>C (p.Tyr3324Ser) c.9725A>C (p.Tyr3242Ser) c.4994A>C (p.Tyr1665Ser) c.2744A>C (p.Tyr915Ser) c.3707A>C (p.Tyr1236Ser) | |
| 1 | g.197090276_197090278delinsTAG | CA1217925205 | ASPM | n.3034_3036delinsCTA c.9747_9749delinsCTA (p.Leu3249=) c.9969_9971delinsCTA (p.Leu3323=) c.9723_9725delinsCTA (p.Leu3241=) c.4992_4994delinsCTA (p.Leu1664=) c.2742_2744delinsCTA (p.Leu914=) c.3705_3707delinsCTA (p.Leu1235=) | |
| 1 | g.197090277A= | CA1217925211 | ASPM | n.3035T= c.9748T= (p.Tyr3250=) c.9970T= (p.Tyr3324=) c.9724T= (p.Tyr3242=) c.4993T= (p.Tyr1665=) c.2743T= (p.Tyr915=) c.3706T= (p.Tyr1236=) | |
| 1 | g.197090277A>C | CA344001781 | ASPM | n.3035T>G c.9748T>G (p.Tyr3250Asp) c.9970T>G (p.Tyr3324Asp) c.9724T>G (p.Tyr3242Asp) c.4993T>G (p.Tyr1665Asp) c.2743T>G (p.Tyr915Asp) c.3706T>G (p.Tyr1236Asp) | |
| 1 | g.197090277A>G | CA344001780 | ASPM | n.3035T>C c.9748T>C (p.Tyr3250His) c.9970T>C (p.Tyr3324His) c.9724T>C (p.Tyr3242His) c.4993T>C (p.Tyr1665His) c.2743T>C (p.Tyr915His) c.3706T>C (p.Tyr1236His) | dbSNP gnomAD v4 |
| 1 | g.197090277A>T | CA344001782 | ASPM | n.3035T>A c.9748T>A (p.Tyr3250Asn) c.9970T>A (p.Tyr3324Asn) c.9724T>A (p.Tyr3242Asn) c.4993T>A (p.Tyr1665Asn) c.2743T>A (p.Tyr915Asn) c.3706T>A (p.Tyr1236Asn) | |
| 1 | g.197090277_197090280delinsAGAG | CA1143355784 | ASPM | n.3032_3035delinsCTCT c.9745_9748delinsCTCT (p.Leu3249=) c.9967_9970delinsCTCT (p.Leu3323=) c.9721_9724delinsCTCT (p.Leu3241=) c.4990_4993delinsCTCT (p.Leu1664=) c.2740_2743delinsCTCT (p.Leu914=) c.3703_3706delinsCTCT (p.Leu1235=) | |
| 1 | g.197090279_197090280del | CA342311 | ASPM | n.3034_3035del c.9747_9748del (p.Tyr3250GlnfsTer14) c.9969_9970del (p.Tyr3324GlnfsTer14) c.9723_9724del (p.Tyr3242GlnfsTer14) c.4992_4993del (p.Tyr1665GlnfsTer14) c.2742_2743del (p.Tyr915GlnfsTer14) c.3705_3706del (p.Tyr1236GlnfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090278G>A | CA1308869 | ASPM | n.3034C>T c.9747C>T (p.Leu3249=) c.9969C>T (p.Leu3323=) c.9723C>T (p.Leu3241=) c.4992C>T (p.Leu1664=) c.2742C>T (p.Leu914=) c.3705C>T (p.Leu1235=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090278G>C | CA422805338 | ASPM | n.3034C>G c.9747C>G (p.Leu3249=) c.9969C>G (p.Leu3323=) c.9723C>G (p.Leu3241=) c.4992C>G (p.Leu1664=) c.2742C>G (p.Leu914=) c.3705C>G (p.Leu1235=) | gnomAD v4 |
| 1 | g.197090278G= | CA1217925215 | ASPM | n.3034C= c.9747C= (p.Leu3249=) c.9969C= (p.Leu3323=) c.9723C= (p.Leu3241=) c.4992C= (p.Leu1664=) c.2742C= (p.Leu914=) c.3705C= (p.Leu1235=) | |
| 1 | g.197090278G>T | CA422805340 | ASPM | n.3034C>A c.9747C>A (p.Leu3249=) c.9969C>A (p.Leu3323=) c.9723C>A (p.Leu3241=) c.4992C>A (p.Leu1664=) c.2742C>A (p.Leu914=) c.3705C>A (p.Leu1235=) | |
| 1 | g.197090279A= | CA1217925222 | ASPM | n.3033T= c.9746T= (p.Leu3249=) c.9968T= (p.Leu3323=) c.9722T= (p.Leu3241=) c.4991T= (p.Leu1664=) c.2741T= (p.Leu914=) c.3704T= (p.Leu1235=) | |
| 1 | g.197090279A>C | CA344001783 | ASPM | n.3033T>G c.9746T>G (p.Leu3249Arg) c.9968T>G (p.Leu3323Arg) c.9722T>G (p.Leu3241Arg) c.4991T>G (p.Leu1664Arg) c.2741T>G (p.Leu914Arg) c.3704T>G (p.Leu1235Arg) | |
| 1 | g.197090279A>G | CA344001784 | ASPM | n.3033T>C c.9746T>C (p.Leu3249Pro) c.9968T>C (p.Leu3323Pro) c.9722T>C (p.Leu3241Pro) c.4991T>C (p.Leu1664Pro) c.2741T>C (p.Leu914Pro) c.3704T>C (p.Leu1235Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090279A>T | CA344001785 | ASPM | n.3033T>A c.9746T>A (p.Leu3249His) c.9968T>A (p.Leu3323His) c.9722T>A (p.Leu3241His) c.4991T>A (p.Leu1664His) c.2741T>A (p.Leu914His) c.3704T>A (p.Leu1235His) | |
| 1 | g.197090279_197090283delinsAGTTT | CA1217925219 | ASPM | n.3029_3033delinsAAACT c.9742_9746delinsAAACT (p.Lys3248=) c.9964_9968delinsAAACT (p.Lys3322=) c.9718_9722delinsAAACT (p.Lys3240=) c.4987_4991delinsAAACT (p.Lys1663=) c.2737_2741delinsAAACT (p.Lys913=) c.3700_3704delinsAAACT (p.Lys1234=) | |
| 1 | g.197090280G>A | CA344001786 | ASPM | n.3032C>T c.9745C>T (p.Leu3249Phe) c.9967C>T (p.Leu3323Phe) c.9721C>T (p.Leu3241Phe) c.4990C>T (p.Leu1664Phe) c.2740C>T (p.Leu914Phe) c.3703C>T (p.Leu1235Phe) | gnomAD v4 |
| 1 | g.197090280G>C | CA344001787 | ASPM | n.3032C>G c.9745C>G (p.Leu3249Val) c.9967C>G (p.Leu3323Val) c.9721C>G (p.Leu3241Val) c.4990C>G (p.Leu1664Val) c.2740C>G (p.Leu914Val) c.3703C>G (p.Leu1235Val) | dbSNP |
| 1 | g.197090280G= | CA1217925226 | ASPM | n.3032C= c.9745C= (p.Leu3249=) c.9967C= (p.Leu3323=) c.9721C= (p.Leu3241=) c.4990C= (p.Leu1664=) c.2740C= (p.Leu914=) c.3703C= (p.Leu1235=) | |
| 1 | g.197090280G>T | CA344001788 | ASPM | n.3032C>A c.9745C>A (p.Leu3249Ile) c.9967C>A (p.Leu3323Ile) c.9721C>A (p.Leu3241Ile) c.4990C>A (p.Leu1664Ile) c.2740C>A (p.Leu914Ile) c.3703C>A (p.Leu1235Ile) | |
| 1 | g.197090284_197090287del | CA1217925225 | ASPM | n.3029_3032del c.9742_9745del (p.Lys3248SerfsTer13) c.9964_9967del (p.Lys3322SerfsTer13) c.9718_9721del (p.Lys3240SerfsTer13) c.4987_4990del (p.Lys1663SerfsTer13) c.2737_2740del (p.Lys913SerfsTer13) c.3700_3703del (p.Lys1234SerfsTer13) | dbSNP |
| 1 | g.197090281T>A | CA344001789 | ASPM | n.3031A>T c.9744A>T (p.Lys3248Asn) c.9966A>T (p.Lys3322Asn) c.9720A>T (p.Lys3240Asn) c.4989A>T (p.Lys1663Asn) c.2739A>T (p.Lys913Asn) c.3702A>T (p.Lys1234Asn) | |
| 1 | g.197090281T>C | CA1308870 | ASPM | n.3031A>G c.9744A>G (p.Lys3248=) c.9966A>G (p.Lys3322=) c.9720A>G (p.Lys3240=) c.4989A>G (p.Lys1663=) c.2739A>G (p.Lys913=) c.3702A>G (p.Lys1234=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090281T>G | CA344001790 | ASPM | n.3031A>C c.9744A>C (p.Lys3248Asn) c.9966A>C (p.Lys3322Asn) c.9720A>C (p.Lys3240Asn) c.4989A>C (p.Lys1663Asn) c.2739A>C (p.Lys913Asn) c.3702A>C (p.Lys1234Asn) | |
| 1 | g.197090281T= | CA1148246952 | ASPM | n.3031A= c.9744A= (p.Lys3248=) c.9966A= (p.Lys3322=) c.9720A= (p.Lys3240=) c.4989A= (p.Lys1663=) c.2739A= (p.Lys913=) c.3702A= (p.Lys1234=) | |
| 1 | g.197090281_197090284delinsTTTG | CA1217925228 | ASPM | n.3028_3031delinsCAAA c.9741_9744delinsCAAA (p.Asn3247=) c.9963_9966delinsCAAA (p.Asn3321=) c.9717_9720delinsCAAA (p.Asn3239=) c.4986_4989delinsCAAA (p.Asn1662=) c.2736_2739delinsCAAA (p.Asn912=) c.3699_3702delinsCAAA (p.Asn1233=) | |
| 1 | g.197090282T>A | CA1308871 | ASPM | n.3030A>T c.9743A>T (p.Lys3248Ile) c.9965A>T (p.Lys3322Ile) c.9719A>T (p.Lys3240Ile) c.4988A>T (p.Lys1663Ile) c.2738A>T (p.Lys913Ile) c.3701A>T (p.Lys1234Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090282T>C | CA344001791 | ASPM | n.3030A>G c.9743A>G (p.Lys3248Arg) c.9965A>G (p.Lys3322Arg) c.9719A>G (p.Lys3240Arg) c.4988A>G (p.Lys1663Arg) c.2738A>G (p.Lys913Arg) c.3701A>G (p.Lys1234Arg) | |
| 1 | g.197090282T>G | CA344001792 | ASPM | n.3030A>C c.9743A>C (p.Lys3248Thr) c.9965A>C (p.Lys3322Thr) c.9719A>C (p.Lys3240Thr) c.4988A>C (p.Lys1663Thr) c.2738A>C (p.Lys913Thr) c.3701A>C (p.Lys1234Thr) | |
| 1 | g.197090282T= | CA1217925230 | ASPM | n.3030A= c.9743A= (p.Lys3248=) c.9965A= (p.Lys3322=) c.9719A= (p.Lys3240=) c.4988A= (p.Lys1663=) c.2738A= (p.Lys913=) c.3701A= (p.Lys1234=) | |
| 1 | g.197090284_197090286del | CA528534979 | ASPM | n.3028_3030del c.9741_9743del (p.Asn3247del) c.9963_9965del (p.Asn3321del) c.9717_9719del (p.Asn3239del) c.4986_4988del (p.Asn1662del) c.2736_2738del (p.Asn912del) c.3699_3701del (p.Asn1233del) | dbSNP gnomAD v2 |
| 1 | g.197090283T>A | CA344001793 | ASPM | n.3029A>T c.9742A>T (p.Lys3248Ter) c.9964A>T (p.Lys3322Ter) c.9718A>T (p.Lys3240Ter) c.4987A>T (p.Lys1663Ter) c.2737A>T (p.Lys913Ter) c.3700A>T (p.Lys1234Ter) | |
| 1 | g.197090283T>C | CA344001794 | ASPM | n.3029A>G c.9742A>G (p.Lys3248Glu) c.9964A>G (p.Lys3322Glu) c.9718A>G (p.Lys3240Glu) c.4987A>G (p.Lys1663Glu) c.2737A>G (p.Lys913Glu) c.3700A>G (p.Lys1234Glu) | gnomAD v4 |
| 1 | g.197090283T>G | CA344001795 | ASPM | n.3029A>C c.9742A>C (p.Lys3248Gln) c.9964A>C (p.Lys3322Gln) c.9718A>C (p.Lys3240Gln) c.4987A>C (p.Lys1663Gln) c.2737A>C (p.Lys913Gln) c.3700A>C (p.Lys1234Gln) | |
| 1 | g.197090284G>A | CA422805356 | ASPM | n.3028C>T c.9741C>T (p.Asn3247=) c.9963C>T (p.Asn3321=) c.9717C>T (p.Asn3239=) c.4986C>T (p.Asn1662=) c.2736C>T (p.Asn912=) c.3699C>T (p.Asn1233=) | |
| 1 | g.197090284G>C | CA344001797 | ASPM | n.3028C>G c.9741C>G (p.Asn3247Lys) c.9963C>G (p.Asn3321Lys) c.9717C>G (p.Asn3239Lys) c.4986C>G (p.Asn1662Lys) c.2736C>G (p.Asn912Lys) c.3699C>G (p.Asn1233Lys) | |
| 1 | g.197090284G>T | CA344001796 | ASPM | n.3028C>A c.9741C>A (p.Asn3247Lys) c.9963C>A (p.Asn3321Lys) c.9717C>A (p.Asn3239Lys) c.4986C>A (p.Asn1662Lys) c.2736C>A (p.Asn912Lys) c.3699C>A (p.Asn1233Lys) | |
| 1 | g.197090285T>A | CA344001798 | ASPM | n.3027A>T c.9740A>T (p.Asn3247Ile) c.9962A>T (p.Asn3321Ile) c.9716A>T (p.Asn3239Ile) c.4985A>T (p.Asn1662Ile) c.2735A>T (p.Asn912Ile) c.3698A>T (p.Asn1233Ile) | |
| 1 | g.197090285T>C | CA344001799 | ASPM | n.3027A>G c.9740A>G (p.Asn3247Ser) c.9962A>G (p.Asn3321Ser) c.9716A>G (p.Asn3239Ser) c.4985A>G (p.Asn1662Ser) c.2735A>G (p.Asn912Ser) c.3698A>G (p.Asn1233Ser) | |
| 1 | g.197090285T>G | CA344001800 | ASPM | n.3027A>C c.9740A>C (p.Asn3247Thr) c.9962A>C (p.Asn3321Thr) c.9716A>C (p.Asn3239Thr) c.4985A>C (p.Asn1662Thr) c.2735A>C (p.Asn912Thr) c.3698A>C (p.Asn1233Thr) | |
| 1 | g.197090286T>A | CA344001801 | ASPM | n.3026A>T c.9739A>T (p.Asn3247Tyr) c.9961A>T (p.Asn3321Tyr) c.9715A>T (p.Asn3239Tyr) c.4984A>T (p.Asn1662Tyr) c.2734A>T (p.Asn912Tyr) c.3697A>T (p.Asn1233Tyr) | |
| 1 | g.197090286T>C | CA344001802 | ASPM | n.3026A>G c.9739A>G (p.Asn3247Asp) c.9961A>G (p.Asn3321Asp) c.9715A>G (p.Asn3239Asp) c.4984A>G (p.Asn1662Asp) c.2734A>G (p.Asn912Asp) c.3697A>G (p.Asn1233Asp) | |
| 1 | g.197090286T>G | CA344001803 | ASPM | n.3026A>C c.9739A>C (p.Asn3247His) c.9961A>C (p.Asn3321His) c.9715A>C (p.Asn3239His) c.4984A>C (p.Asn1662His) c.2734A>C (p.Asn912His) c.3697A>C (p.Asn1233His) | |
| 1 | g.197090287T>A | CA344001804 | ASPM | n.3025A>T c.9738A>T (p.Glu3246Asp) c.9960A>T (p.Glu3320Asp) c.9714A>T (p.Glu3238Asp) c.4983A>T (p.Glu1661Asp) c.2733A>T (p.Glu911Asp) c.3696A>T (p.Glu1232Asp) | |
| 1 | g.197090287T>C | CA422805362 | ASPM | n.3025A>G c.9738A>G (p.Glu3246=) c.9960A>G (p.Glu3320=) c.9714A>G (p.Glu3238=) c.4983A>G (p.Glu1661=) c.2733A>G (p.Glu911=) c.3696A>G (p.Glu1232=) | |
| 1 | g.197090287T>G | CA344001805 | ASPM | n.3025A>C c.9738A>C (p.Glu3246Asp) c.9960A>C (p.Glu3320Asp) c.9714A>C (p.Glu3238Asp) c.4983A>C (p.Glu1661Asp) c.2733A>C (p.Glu911Asp) c.3696A>C (p.Glu1232Asp) | gnomAD v4 |
| 1 | g.197090288T>A | CA344001806 | ASPM | n.3024A>T c.9737A>T (p.Glu3246Val) c.9959A>T (p.Glu3320Val) c.9713A>T (p.Glu3238Val) c.4982A>T (p.Glu1661Val) c.2732A>T (p.Glu911Val) c.3695A>T (p.Glu1232Val) | |
| 1 | g.197090288T>C | CA344001807 | ASPM | n.3024A>G c.9737A>G (p.Glu3246Gly) c.9959A>G (p.Glu3320Gly) c.9713A>G (p.Glu3238Gly) c.4982A>G (p.Glu1661Gly) c.2732A>G (p.Glu911Gly) c.3695A>G (p.Glu1232Gly) | |
| 1 | g.197090288T>G | CA344001808 | ASPM | n.3024A>C c.9737A>C (p.Glu3246Ala) c.9959A>C (p.Glu3320Ala) c.9713A>C (p.Glu3238Ala) c.4982A>C (p.Glu1661Ala) c.2732A>C (p.Glu911Ala) c.3695A>C (p.Glu1232Ala) | |
| 1 | g.197090288T= | CA1217925235 | ASPM | n.3024A= c.9737A= (p.Glu3246=) c.9959A= (p.Glu3320=) c.9713A= (p.Glu3238=) c.4982A= (p.Glu1661=) c.2732A= (p.Glu911=) c.3695A= (p.Glu1232=) | |
| 1 | g.197090288_197090289insAA | CA1217925236 | ASPM | n.3023_3024insTT c.9736_9737insTT (p.Glu3246ValfsTer17) c.9958_9959insTT (p.Glu3320ValfsTer17) c.9712_9713insTT (p.Glu3238ValfsTer17) c.4981_4982insTT (p.Glu1661ValfsTer17) c.2731_2732insTT (p.Glu911ValfsTer17) c.3694_3695insTT (p.Glu1232ValfsTer17) | dbSNP |
| 1 | g.197090289C>A | CA344001809 | ASPM | n.3023G>T c.9736G>T (p.Glu3246Ter) c.9958G>T (p.Glu3320Ter) c.9712G>T (p.Glu3238Ter) c.4981G>T (p.Glu1661Ter) c.2731G>T (p.Glu911Ter) c.3694G>T (p.Glu1232Ter) | |
| 1 | g.197090289C= | CA1217925237 | ASPM | n.3023G= c.9736G= (p.Glu3246=) c.9958G= (p.Glu3320=) c.9712G= (p.Glu3238=) c.4981G= (p.Glu1661=) c.2731G= (p.Glu911=) c.3694G= (p.Glu1232=) | |
| 1 | g.197090289C>G | CA344001810 | ASPM | n.3023G>C c.9736G>C (p.Glu3246Gln) c.9958G>C (p.Glu3320Gln) c.9712G>C (p.Glu3238Gln) c.4981G>C (p.Glu1661Gln) c.2731G>C (p.Glu911Gln) c.3694G>C (p.Glu1232Gln) | |
| 1 | g.197090289C>T | CA344001811 | ASPM | n.3023G>A c.9736G>A (p.Glu3246Lys) c.9958G>A (p.Glu3320Lys) c.9712G>A (p.Glu3238Lys) c.4981G>A (p.Glu1661Lys) c.2731G>A (p.Glu911Lys) c.3694G>A (p.Glu1232Lys) | |
| 1 | g.197090289_197090290insATGTTTAAAGAATGATGTAATACTACATTA | CA1217925241 | ASPM | n.3022_3023insTAATGTAGTATTACATCATTCTTTAAACAT c.9735_9736insTAATGTAGTATTACATCATTCTTTAAACAT c.9957_9958insTAATGTAGTATTACATCATTCTTTAAACAT c.9711_9712insTAATGTAGTATTACATCATTCTTTAAACAT c.4980_4981insTAATGTAGTATTACATCATTCTTTAAACAT c.2730_2731insTAATGTAGTATTACATCATTCTTTAAACAT c.3693_3694insTAATGTAGTATTACATCATTCTTTAAACAT | dbSNP |
| 1 | g.197090290T>A | CA344001812 | ASPM | n.3022A>T c.9735A>T (p.Glu3245Asp) c.9957A>T (p.Glu3319Asp) c.9711A>T (p.Glu3237Asp) c.4980A>T (p.Glu1660Asp) c.2730A>T (p.Glu910Asp) c.3693A>T (p.Glu1231Asp) | |
| 1 | g.197090290T>C | CA422805367 | ASPM | n.3022A>G c.9735A>G (p.Glu3245=) c.9957A>G (p.Glu3319=) c.9711A>G (p.Glu3237=) c.4980A>G (p.Glu1660=) c.2730A>G (p.Glu910=) c.3693A>G (p.Glu1231=) | |
| 1 | g.197090290T>G | CA344001813 | ASPM | n.3022A>C c.9735A>C (p.Glu3245Asp) c.9957A>C (p.Glu3319Asp) c.9711A>C (p.Glu3237Asp) c.4980A>C (p.Glu1660Asp) c.2730A>C (p.Glu910Asp) c.3693A>C (p.Glu1231Asp) | |
| 1 | g.197090291T>A | CA344001814 | ASPM | n.3021A>T c.9734A>T (p.Glu3245Val) c.9956A>T (p.Glu3319Val) c.9710A>T (p.Glu3237Val) c.4979A>T (p.Glu1660Val) c.2729A>T (p.Glu910Val) c.3692A>T (p.Glu1231Val) | |
| 1 | g.197090291T>C | CA344001815 | ASPM | n.3021A>G c.9734A>G (p.Glu3245Gly) c.9956A>G (p.Glu3319Gly) c.9710A>G (p.Glu3237Gly) c.4979A>G (p.Glu1660Gly) c.2729A>G (p.Glu910Gly) c.3692A>G (p.Glu1231Gly) | |
| 1 | g.197090291T>G | CA344001816 | ASPM | n.3021A>C c.9734A>C (p.Glu3245Ala) c.9956A>C (p.Glu3319Ala) c.9710A>C (p.Glu3237Ala) c.4979A>C (p.Glu1660Ala) c.2729A>C (p.Glu910Ala) c.3692A>C (p.Glu1231Ala) | |
| 1 | g.197090292C>A | CA344001817 | ASPM | n.3020G>T c.9733G>T (p.Glu3245Ter) c.9955G>T (p.Glu3319Ter) c.9709G>T (p.Glu3237Ter) c.4978G>T (p.Glu1660Ter) c.2728G>T (p.Glu910Ter) c.3691G>T (p.Glu1231Ter) | |
| 1 | g.197090292C>G | CA344001818 | ASPM | n.3020G>C c.9733G>C (p.Glu3245Gln) c.9955G>C (p.Glu3319Gln) c.9709G>C (p.Glu3237Gln) c.4978G>C (p.Glu1660Gln) c.2728G>C (p.Glu910Gln) c.3691G>C (p.Glu1231Gln) | |
| 1 | g.197090292C>T | CA344001819 | ASPM | n.3020G>A c.9733G>A (p.Glu3245Lys) c.9955G>A (p.Glu3319Lys) c.9709G>A (p.Glu3237Lys) c.4978G>A (p.Glu1660Lys) c.2728G>A (p.Glu910Lys) c.3691G>A (p.Glu1231Lys) | |
| 1 | g.197090293T>A | CA422805376 | ASPM | n.3019A>T c.9732A>T (p.Arg3244=) c.9954A>T (p.Arg3318=) c.9708A>T (p.Arg3236=) c.4977A>T (p.Arg1659=) c.2727A>T (p.Arg909=) c.3690A>T (p.Arg1230=) | |
| 1 | g.197090293T>C | CA422805377 | ASPM | n.3019A>G c.9732A>G (p.Arg3244=) c.9954A>G (p.Arg3318=) c.9708A>G (p.Arg3236=) c.4977A>G (p.Arg1659=) c.2727A>G (p.Arg909=) c.3690A>G (p.Arg1230=) | |
| 1 | g.197090293T>G | CA422805378 | ASPM | n.3019A>C c.9732A>C (p.Arg3244=) c.9954A>C (p.Arg3318=) c.9708A>C (p.Arg3236=) c.4977A>C (p.Arg1659=) c.2727A>C (p.Arg909=) c.3690A>C (p.Arg1230=) | |
| 1 | g.197090294C>A | CA344001820 | ASPM | n.3018G>T c.9731G>T (p.Arg3244Leu) c.9953G>T (p.Arg3318Leu) c.9707G>T (p.Arg3236Leu) c.4976G>T (p.Arg1659Leu) c.2726G>T (p.Arg909Leu) c.3689G>T (p.Arg1230Leu) | |
| 1 | g.197090294C= | CA1217925244 | ASPM | n.3018G= c.9731G= (p.Arg3244=) c.9953G= (p.Arg3318=) c.9707G= (p.Arg3236=) c.4976G= (p.Arg1659=) c.2726G= (p.Arg909=) c.3689G= (p.Arg1230=) | |
| 1 | g.197090294C>G | CA344001821 | ASPM | n.3018G>C c.9731G>C (p.Arg3244Pro) c.9953G>C (p.Arg3318Pro) c.9707G>C (p.Arg3236Pro) c.4976G>C (p.Arg1659Pro) c.2726G>C (p.Arg909Pro) c.3689G>C (p.Arg1230Pro) | |
| 1 | g.197090294C>T | CA1308872 | ASPM | n.3018G>A c.9731G>A (p.Arg3244Gln) c.9953G>A (p.Arg3318Gln) c.9707G>A (p.Arg3236Gln) c.4976G>A (p.Arg1659Gln) c.2726G>A (p.Arg909Gln) c.3689G>A (p.Arg1230Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197090295G>A | CA342309 | ASPM | n.3017C>T c.9730C>T (p.Arg3244Ter) c.9952C>T (p.Arg3318Ter) c.9706C>T (p.Arg3236Ter) c.4975C>T (p.Arg1659Ter) c.2725C>T (p.Arg909Ter) c.3688C>T (p.Arg1230Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197090295G>C | CA344001822 | ASPM | n.3017C>G c.9730C>G (p.Arg3244Gly) c.9952C>G (p.Arg3318Gly) c.9706C>G (p.Arg3236Gly) c.4975C>G (p.Arg1659Gly) c.2725C>G (p.Arg909Gly) c.3688C>G (p.Arg1230Gly) | gnomAD v4 |
| 1 | g.197090295G= | CA1143355785 | ASPM | n.3017C= c.9730C= (p.Arg3244=) c.9952C= (p.Arg3318=) c.9706C= (p.Arg3236=) c.4975C= (p.Arg1659=) c.2725C= (p.Arg909=) c.3688C= (p.Arg1230=) | |
| 1 | g.197090295G>T | CA422805387 | ASPM | n.3017C>A c.9730C>A (p.Arg3244=) c.9952C>A (p.Arg3318=) c.9706C>A (p.Arg3236=) c.4975C>A (p.Arg1659=) c.2725C>A (p.Arg909=) c.3688C>A (p.Arg1230=) | |
| 1 | g.197090296A= | CA1217925250 | ASPM | n.3016T= c.9729T= (p.Ile3243=) c.9951T= (p.Ile3317=) c.9705T= (p.Ile3235=) c.4974T= (p.Ile1658=) c.2724T= (p.Ile908=) c.3687T= (p.Ile1229=) | |
| 1 | g.197090296A>C | CA35861990 | ASPM | n.3016T>G c.9729T>G (p.Ile3243Met) c.9951T>G (p.Ile3317Met) c.9705T>G (p.Ile3235Met) c.4974T>G (p.Ile1658Met) c.2724T>G (p.Ile908Met) c.3687T>G (p.Ile1229Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090296A>G | CA422805397 | ASPM | n.3016T>C c.9729T>C (p.Ile3243=) c.9951T>C (p.Ile3317=) c.9705T>C (p.Ile3235=) c.4974T>C (p.Ile1658=) c.2724T>C (p.Ile908=) c.3687T>C (p.Ile1229=) | |
| 1 | g.197090296A>T | CA422805398 | ASPM | n.3016T>A c.9729T>A (p.Ile3243=) c.9951T>A (p.Ile3317=) c.9705T>A (p.Ile3235=) c.4974T>A (p.Ile1658=) c.2724T>A (p.Ile908=) c.3687T>A (p.Ile1229=) | |
| 1 | g.197090297A= | CA1217925253 | ASPM | n.3015T= c.9728T= (p.Ile3243=) c.9950T= (p.Ile3317=) c.9704T= (p.Ile3235=) c.4973T= (p.Ile1658=) c.2723T= (p.Ile908=) c.3686T= (p.Ile1229=) | |
| 1 | g.197090297A>C | CA1308873 | ASPM | n.3015T>G c.9728T>G (p.Ile3243Ser) c.9950T>G (p.Ile3317Ser) c.9704T>G (p.Ile3235Ser) c.4973T>G (p.Ile1658Ser) c.2723T>G (p.Ile908Ser) c.3686T>G (p.Ile1229Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.197090297A>G | CA344001824 | ASPM | n.3015T>C c.9728T>C (p.Ile3243Thr) c.9950T>C (p.Ile3317Thr) c.9704T>C (p.Ile3235Thr) c.4973T>C (p.Ile1658Thr) c.2723T>C (p.Ile908Thr) c.3686T>C (p.Ile1229Thr) | |
| 1 | g.197090297A>T | CA344001823 | ASPM | n.3015T>A c.9728T>A (p.Ile3243Asn) c.9950T>A (p.Ile3317Asn) c.9704T>A (p.Ile3235Asn) c.4973T>A (p.Ile1658Asn) c.2723T>A (p.Ile908Asn) c.3686T>A (p.Ile1229Asn) | |
| 1 | g.197090298T>A | CA344001825 | ASPM | n.3014A>T c.9727A>T (p.Ile3243Phe) c.9949A>T (p.Ile3317Phe) c.9703A>T (p.Ile3235Phe) c.4972A>T (p.Ile1658Phe) c.2722A>T (p.Ile908Phe) c.3685A>T (p.Ile1229Phe) | |
| 1 | g.197090298T>C | CA344001827 | ASPM | n.3014A>G c.9727A>G (p.Ile3243Val) c.9949A>G (p.Ile3317Val) c.9703A>G (p.Ile3235Val) c.4972A>G (p.Ile1658Val) c.2722A>G (p.Ile908Val) c.3685A>G (p.Ile1229Val) | |
| 1 | g.197090298T>G | CA344001826 | ASPM | n.3014A>C c.9727A>C (p.Ile3243Leu) c.9949A>C (p.Ile3317Leu) c.9703A>C (p.Ile3235Leu) c.4972A>C (p.Ile1658Leu) c.2722A>C (p.Ile908Leu) c.3685A>C (p.Ile1229Leu) | |
| 1 | g.197090299C>A | CA344001828 | ASPM | n.3013G>T c.9726G>T (p.Glu3242Asp) c.9948G>T (p.Glu3316Asp) c.9702G>T (p.Glu3234Asp) c.4971G>T (p.Glu1657Asp) c.2721G>T (p.Glu907Asp) c.3684G>T (p.Glu1228Asp) | |
| 1 | g.197090299C= | CA1148224799 | ASPM | n.3013G= c.9726G= (p.Glu3242=) c.9948G= (p.Glu3316=) c.9702G= (p.Glu3234=) c.4971G= (p.Glu1657=) c.2721G= (p.Glu907=) c.3684G= (p.Glu1228=) | |
| 1 | g.197090299C>G | CA344001829 | ASPM | n.3013G>C c.9726G>C (p.Glu3242Asp) c.9948G>C (p.Glu3316Asp) c.9702G>C (p.Glu3234Asp) c.4971G>C (p.Glu1657Asp) c.2721G>C (p.Glu907Asp) c.3684G>C (p.Glu1228Asp) | |
| 1 | g.197090299C>T | CA271157 | ASPM | n.3013G>A c.9726G>A (p.Glu3242=) c.9948G>A (p.Glu3316=) c.9702G>A (p.Glu3234=) c.4971G>A (p.Glu1657=) c.2721G>A (p.Glu907=) c.3684G>A (p.Glu1228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090300T>A | CA344001830 | ASPM | n.3012A>T c.9725A>T (p.Glu3242Val) c.9947A>T (p.Glu3316Val) c.9701A>T (p.Glu3234Val) c.4970A>T (p.Glu1657Val) c.2720A>T (p.Glu907Val) c.3683A>T (p.Glu1228Val) | |
| 1 | g.197090300T>C | CA344001831 | ASPM | n.3012A>G c.9725A>G (p.Glu3242Gly) c.9947A>G (p.Glu3316Gly) c.9701A>G (p.Glu3234Gly) c.4970A>G (p.Glu1657Gly) c.2720A>G (p.Glu907Gly) c.3683A>G (p.Glu1228Gly) | gnomAD v4 |
| 1 | g.197090300T>G | CA344001832 | ASPM | n.3012A>C c.9725A>C (p.Glu3242Ala) c.9947A>C (p.Glu3316Ala) c.9701A>C (p.Glu3234Ala) c.4970A>C (p.Glu1657Ala) c.2720A>C (p.Glu907Ala) c.3683A>C (p.Glu1228Ala) | |
| 1 | g.197090301C>A | CA344001833 | ASPM | n.3011G>T c.9724G>T (p.Glu3242Ter) c.9946G>T (p.Glu3316Ter) c.9700G>T (p.Glu3234Ter) c.4969G>T (p.Glu1657Ter) c.2719G>T (p.Glu907Ter) c.3682G>T (p.Glu1228Ter) | |
| 1 | g.197090301C>G | CA344001834 | ASPM | n.3011G>C c.9724G>C (p.Glu3242Gln) c.9946G>C (p.Glu3316Gln) c.9700G>C (p.Glu3234Gln) c.4969G>C (p.Glu1657Gln) c.2719G>C (p.Glu907Gln) c.3682G>C (p.Glu1228Gln) | |
| 1 | g.197090301C>T | CA344001835 | ASPM | n.3011G>A c.9724G>A (p.Glu3242Lys) c.9946G>A (p.Glu3316Lys) c.9700G>A (p.Glu3234Lys) c.4969G>A (p.Glu1657Lys) c.2719G>A (p.Glu907Lys) c.3682G>A (p.Glu1228Lys) | |
| 1 | g.197090302C>A | CA344001836 | ASPM | n.3010G>T c.9723G>T (p.Arg3241Ser) c.9945G>T (p.Arg3315Ser) c.9699G>T (p.Arg3233Ser) c.4968G>T (p.Arg1656Ser) c.2718G>T (p.Arg906Ser) c.3681G>T (p.Arg1227Ser) | |
| 1 | g.197090302C>G | CA344001837 | ASPM | n.3010G>C c.9723G>C (p.Arg3241Ser) c.9945G>C (p.Arg3315Ser) c.9699G>C (p.Arg3233Ser) c.4968G>C (p.Arg1656Ser) c.2718G>C (p.Arg906Ser) c.3681G>C (p.Arg1227Ser) | |
| 1 | g.197090302C>T | CA422805424 | ASPM | n.3010G>A c.9723G>A (p.Arg3241=) c.9945G>A (p.Arg3315=) c.9699G>A (p.Arg3233=) c.4968G>A (p.Arg1656=) c.2718G>A (p.Arg906=) c.3681G>A (p.Arg1227=) | |
| 1 | g.197090303C>A | CA344001840 | ASPM | n.3009G>T c.9722G>T (p.Arg3241Met) c.9944G>T (p.Arg3315Met) c.9698G>T (p.Arg3233Met) c.4967G>T (p.Arg1656Met) c.2717G>T (p.Arg906Met) c.3680G>T (p.Arg1227Met) | gnomAD v4 |
| 1 | g.197090303C>G | CA344001838 | ASPM | n.3009G>C c.9722G>C (p.Arg3241Thr) c.9944G>C (p.Arg3315Thr) c.9698G>C (p.Arg3233Thr) c.4967G>C (p.Arg1656Thr) c.2717G>C (p.Arg906Thr) c.3680G>C (p.Arg1227Thr) | |
| 1 | g.197090303C>T | CA344001839 | ASPM | n.3009G>A c.9722G>A (p.Arg3241Lys) c.9944G>A (p.Arg3315Lys) c.9698G>A (p.Arg3233Lys) c.4967G>A (p.Arg1656Lys) c.2717G>A (p.Arg906Lys) c.3680G>A (p.Arg1227Lys) | gnomAD v4 |
| 1 | g.197090304T>A | CA344001841 | ASPM | n.3008A>T c.9721A>T (p.Arg3241Trp) c.9943A>T (p.Arg3315Trp) c.9697A>T (p.Arg3233Trp) c.4966A>T (p.Arg1656Trp) c.2716A>T (p.Arg906Trp) c.3679A>T (p.Arg1227Trp) | |
| 1 | g.197090304T>C | CA344001842 | ASPM | n.3008A>G c.9721A>G (p.Arg3241Gly) c.9943A>G (p.Arg3315Gly) c.9697A>G (p.Arg3233Gly) c.4966A>G (p.Arg1656Gly) c.2716A>G (p.Arg906Gly) c.3679A>G (p.Arg1227Gly) | |
| 1 | g.197090304T>G | CA422805442 | ASPM | n.3008A>C c.9721A>C (p.Arg3241=) c.9943A>C (p.Arg3315=) c.9697A>C (p.Arg3233=) c.4966A>C (p.Arg1656=) c.2716A>C (p.Arg906=) c.3679A>C (p.Arg1227=) | |
| 1 | g.197090305A= | CA1217925260 | ASPM | n.3007T= c.9720T= (p.Asn3240=) c.9942T= (p.Asn3314=) c.9696T= (p.Asn3232=) c.4965T= (p.Asn1655=) c.2715T= (p.Asn905=) c.3678T= (p.Asn1226=) | |
| 1 | g.197090305A>C | CA344001843 | ASPM | n.3007T>G c.9720T>G (p.Asn3240Lys) c.9942T>G (p.Asn3314Lys) c.9696T>G (p.Asn3232Lys) c.4965T>G (p.Asn1655Lys) c.2715T>G (p.Asn905Lys) c.3678T>G (p.Asn1226Lys) | gnomAD v4 |
| 1 | g.197090305A>G | CA1308874 | ASPM | n.3007T>C c.9720T>C (p.Asn3240=) c.9942T>C (p.Asn3314=) c.9696T>C (p.Asn3232=) c.4965T>C (p.Asn1655=) c.2715T>C (p.Asn905=) c.3678T>C (p.Asn1226=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090305A>T | CA344001844 | ASPM | n.3007T>A c.9720T>A (p.Asn3240Lys) c.9942T>A (p.Asn3314Lys) c.9696T>A (p.Asn3232Lys) c.4965T>A (p.Asn1655Lys) c.2715T>A (p.Asn905Lys) c.3678T>A (p.Asn1226Lys) | |
| 1 | g.197090306T>A | CA344001845 | ASPM | n.3006A>T c.9719A>T (p.Asn3240Ile) c.9941A>T (p.Asn3314Ile) c.9695A>T (p.Asn3232Ile) c.4964A>T (p.Asn1655Ile) c.2714A>T (p.Asn905Ile) c.3677A>T (p.Asn1226Ile) | |
| 1 | g.197090306T>C | CA344001846 | ASPM | n.3006A>G c.9719A>G (p.Asn3240Ser) c.9941A>G (p.Asn3314Ser) c.9695A>G (p.Asn3232Ser) c.4964A>G (p.Asn1655Ser) c.2714A>G (p.Asn905Ser) c.3677A>G (p.Asn1226Ser) | dbSNP |
| 1 | g.197090306T>G | CA344001847 | ASPM | n.3006A>C c.9719A>C (p.Asn3240Thr) c.9941A>C (p.Asn3314Thr) c.9695A>C (p.Asn3232Thr) c.4964A>C (p.Asn1655Thr) c.2714A>C (p.Asn905Thr) c.3677A>C (p.Asn1226Thr) | |
| 1 | g.197090306T= | CA1217925265 | ASPM | n.3006A= c.9719A= (p.Asn3240=) c.9941A= (p.Asn3314=) c.9695A= (p.Asn3232=) c.4964A= (p.Asn1655=) c.2714A= (p.Asn905=) c.3677A= (p.Asn1226=) | |
| 1 | g.197090307T>A | CA344001848 | ASPM | n.3005A>T c.9718A>T (p.Asn3240Tyr) c.9940A>T (p.Asn3314Tyr) c.9694A>T (p.Asn3232Tyr) c.4963A>T (p.Asn1655Tyr) c.2713A>T (p.Asn905Tyr) c.3676A>T (p.Asn1226Tyr) | |
| 1 | g.197090307T>C | CA344001849 | ASPM | n.3005A>G c.9718A>G (p.Asn3240Asp) c.9940A>G (p.Asn3314Asp) c.9694A>G (p.Asn3232Asp) c.4963A>G (p.Asn1655Asp) c.2713A>G (p.Asn905Asp) c.3676A>G (p.Asn1226Asp) | |
| 1 | g.197090307T>G | CA344001850 | ASPM | n.3005A>C c.9718A>C (p.Asn3240His) c.9940A>C (p.Asn3314His) c.9694A>C (p.Asn3232His) c.4963A>C (p.Asn1655His) c.2713A>C (p.Asn905His) c.3676A>C (p.Asn1226His) | |
| 1 | g.197090308A>C | CA422672300 | ASPM | n.3004T>G c.9717T>G (p.Val3239=) c.9939T>G (p.Val3313=) c.9693T>G (p.Val3231=) c.4962T>G (p.Val1654=) c.2712T>G (p.Val904=) c.3675T>G (p.Val1225=) | |
| 1 | g.197090308A>G | CA422672299 | ASPM | n.3004T>C c.9717T>C (p.Val3239=) c.9939T>C (p.Val3313=) c.9693T>C (p.Val3231=) c.4962T>C (p.Val1654=) c.2712T>C (p.Val904=) c.3675T>C (p.Val1225=) | |
| 1 | g.197090308A>T | CA422672298 | ASPM | n.3004T>A c.9717T>A (p.Val3239=) c.9939T>A (p.Val3313=) c.9693T>A (p.Val3231=) c.4962T>A (p.Val1654=) c.2712T>A (p.Val904=) c.3675T>A (p.Val1225=) | |
| 1 | g.197090311_197090313del | CA2649660640 | ASPM | n.3002_3004del c.9715_9717del (p.Val3239del) c.9937_9939del (p.Val3313del) c.9691_9693del (p.Val3231del) c.4960_4962del (p.Val1654del) c.2710_2712del (p.Val904del) c.3673_3675del (p.Val1225del) | gnomAD v4 |
| 1 | g.197090309A>C | CA344001852 | ASPM | n.3003T>G c.9716T>G (p.Val3239Gly) c.9938T>G (p.Val3313Gly) c.9692T>G (p.Val3231Gly) c.4961T>G (p.Val1654Gly) c.2711T>G (p.Val904Gly) c.3674T>G (p.Val1225Gly) | |
| 1 | g.197090309A>G | CA344001853 | ASPM | n.3003T>C c.9716T>C (p.Val3239Ala) c.9938T>C (p.Val3313Ala) c.9692T>C (p.Val3231Ala) c.4961T>C (p.Val1654Ala) c.2711T>C (p.Val904Ala) c.3674T>C (p.Val1225Ala) | |
| 1 | g.197090309A>T | CA344001851 | ASPM | n.3003T>A c.9716T>A (p.Val3239Asp) c.9938T>A (p.Val3313Asp) c.9692T>A (p.Val3231Asp) c.4961T>A (p.Val1654Asp) c.2711T>A (p.Val904Asp) c.3674T>A (p.Val1225Asp) | |
| 1 | g.197090310C>A | CA1308875 | ASPM | n.3002G>T c.9715G>T (p.Val3239Phe) c.9937G>T (p.Val3313Phe) c.9691G>T (p.Val3231Phe) c.4960G>T (p.Val1654Phe) c.2710G>T (p.Val904Phe) c.3673G>T (p.Val1225Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090310C= | CA1217925273 | ASPM | n.3002G= c.9715G= (p.Val3239=) c.9937G= (p.Val3313=) c.9691G= (p.Val3231=) c.4960G= (p.Val1654=) c.2710G= (p.Val904=) c.3673G= (p.Val1225=) | |
| 1 | g.197090310C>G | CA344001854 | ASPM | n.3002G>C c.9715G>C (p.Val3239Leu) c.9937G>C (p.Val3313Leu) c.9691G>C (p.Val3231Leu) c.4960G>C (p.Val1654Leu) c.2710G>C (p.Val904Leu) c.3673G>C (p.Val1225Leu) | |
| 1 | g.197090310C>T | CA344001855 | ASPM | n.3002G>A c.9715G>A (p.Val3239Ile) c.9937G>A (p.Val3313Ile) c.9691G>A (p.Val3231Ile) c.4960G>A (p.Val1654Ile) c.2710G>A (p.Val904Ile) c.3673G>A (p.Val1225Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090311A= | CA1217925275 | ASPM | n.3001T= c.9714T= (p.Val3238=) c.9936T= (p.Val3312=) c.9690T= (p.Val3230=) c.4959T= (p.Val1653=) c.2709T= (p.Val903=) c.3672T= (p.Val1224=) | |
| 1 | g.197090311A>C | CA422672304 | ASPM | n.3001T>G c.9714T>G (p.Val3238=) c.9936T>G (p.Val3312=) c.9690T>G (p.Val3230=) c.4959T>G (p.Val1653=) c.2709T>G (p.Val903=) c.3672T>G (p.Val1224=) | dbSNP gnomAD v2 |
| 1 | g.197090311A>G | CA422672306 | ASPM | n.3001T>C c.9714T>C (p.Val3238=) c.9936T>C (p.Val3312=) c.9690T>C (p.Val3230=) c.4959T>C (p.Val1653=) c.2709T>C (p.Val903=) c.3672T>C (p.Val1224=) | |
| 1 | g.197090311A>T | CA422672305 | ASPM | n.3001T>A c.9714T>A (p.Val3238=) c.9936T>A (p.Val3312=) c.9690T>A (p.Val3230=) c.4959T>A (p.Val1653=) c.2709T>A (p.Val903=) c.3672T>A (p.Val1224=) | |
| 1 | g.197090312A= | CA1145081847 | ASPM | n.3000T= c.9713T= (p.Val3238=) c.9935T= (p.Val3312=) c.9689T= (p.Val3230=) c.4958T= (p.Val1653=) c.2708T= (p.Val903=) c.3671T= (p.Val1224=) | |
| 1 | g.197090312A>C | CA344001856 | ASPM | n.3000T>G c.9713T>G (p.Val3238Gly) c.9935T>G (p.Val3312Gly) c.9689T>G (p.Val3230Gly) c.4958T>G (p.Val1653Gly) c.2708T>G (p.Val903Gly) c.3671T>G (p.Val1224Gly) | |
| 1 | g.197090312A>G | CA344001857 | ASPM | n.3000T>C c.9713T>C (p.Val3238Ala) c.9935T>C (p.Val3312Ala) c.9689T>C (p.Val3230Ala) c.4958T>C (p.Val1653Ala) c.2708T>C (p.Val903Ala) c.3671T>C (p.Val1224Ala) | |
| 1 | g.197090312A>T | CA1308876 | ASPM | n.3000T>A c.9713T>A (p.Val3238Asp) c.9935T>A (p.Val3312Asp) c.9689T>A (p.Val3230Asp) c.4958T>A (p.Val1653Asp) c.2708T>A (p.Val903Asp) c.3671T>A (p.Val1224Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090313C>A | CA344001858 | ASPM | n.2999G>T c.9712G>T (p.Val3238Phe) c.9934G>T (p.Val3312Phe) c.9688G>T (p.Val3230Phe) c.4957G>T (p.Val1653Phe) c.2707G>T (p.Val903Phe) c.3670G>T (p.Val1224Phe) | |
| 1 | g.197090313C>G | CA344001859 | ASPM | n.2999G>C c.9712G>C (p.Val3238Leu) c.9934G>C (p.Val3312Leu) c.9688G>C (p.Val3230Leu) c.4957G>C (p.Val1653Leu) c.2707G>C (p.Val903Leu) c.3670G>C (p.Val1224Leu) | |
| 1 | g.197090313C>T | CA344001860 | ASPM | n.2999G>A c.9712G>A (p.Val3238Ile) c.9934G>A (p.Val3312Ile) c.9688G>A (p.Val3230Ile) c.4957G>A (p.Val1653Ile) c.2707G>A (p.Val903Ile) c.3670G>A (p.Val1224Ile) | gnomAD v4 |
| 1 | g.197090314T>A | CA344001861 | ASPM | n.2998A>T c.9711A>T (p.Gln3237His) c.9933A>T (p.Gln3311His) c.9687A>T (p.Gln3229His) c.4956A>T (p.Gln1652His) c.2706A>T (p.Gln902His) c.3669A>T (p.Gln1223His) | gnomAD v4 |
| 1 | g.197090314T>C | CA1308877 | ASPM | n.2998A>G c.9711A>G (p.Gln3237=) c.9933A>G (p.Gln3311=) c.9687A>G (p.Gln3229=) c.4956A>G (p.Gln1652=) c.2706A>G (p.Gln902=) c.3669A>G (p.Gln1223=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090314T>G | CA344001862 | ASPM | n.2998A>C c.9711A>C (p.Gln3237His) c.9933A>C (p.Gln3311His) c.9687A>C (p.Gln3229His) c.4956A>C (p.Gln1652His) c.2706A>C (p.Gln902His) c.3669A>C (p.Gln1223His) | |
| 1 | g.197090314T= | CA1217925281 | ASPM | n.2998A= c.9711A= (p.Gln3237=) c.9933A= (p.Gln3311=) c.9687A= (p.Gln3229=) c.4956A= (p.Gln1652=) c.2706A= (p.Gln902=) c.3669A= (p.Gln1223=) | |
| 1 | g.197090315T>A | CA344001864 | ASPM | n.2997A>T c.9710A>T (p.Gln3237Leu) c.9932A>T (p.Gln3311Leu) c.9686A>T (p.Gln3229Leu) c.4955A>T (p.Gln1652Leu) c.2705A>T (p.Gln902Leu) c.3668A>T (p.Gln1223Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090315T>C | CA344001865 | ASPM | n.2997A>G c.9710A>G (p.Gln3237Arg) c.9932A>G (p.Gln3311Arg) c.9686A>G (p.Gln3229Arg) c.4955A>G (p.Gln1652Arg) c.2705A>G (p.Gln902Arg) c.3668A>G (p.Gln1223Arg) | gnomAD v4 |
| 1 | g.197090315T>G | CA344001863 | ASPM | n.2997A>C c.9710A>C (p.Gln3237Pro) c.9932A>C (p.Gln3311Pro) c.9686A>C (p.Gln3229Pro) c.4955A>C (p.Gln1652Pro) c.2705A>C (p.Gln902Pro) c.3668A>C (p.Gln1223Pro) | |
| 1 | g.197090315T= | CA1217925283 | ASPM | n.2997A= c.9710A= (p.Gln3237=) c.9932A= (p.Gln3311=) c.9686A= (p.Gln3229=) c.4955A= (p.Gln1652=) c.2705A= (p.Gln902=) c.3668A= (p.Gln1223=) | |
| 1 | g.197090316G>A | CA344001866 | ASPM | n.2996C>T c.9709C>T (p.Gln3237Ter) c.9931C>T (p.Gln3311Ter) c.9685C>T (p.Gln3229Ter) c.4954C>T (p.Gln1652Ter) c.2704C>T (p.Gln902Ter) c.3667C>T (p.Gln1223Ter) | |
| 1 | g.197090316G>C | CA344001867 | ASPM | n.2996C>G c.9709C>G (p.Gln3237Glu) c.9931C>G (p.Gln3311Glu) c.9685C>G (p.Gln3229Glu) c.4954C>G (p.Gln1652Glu) c.2704C>G (p.Gln902Glu) c.3667C>G (p.Gln1223Glu) | |
| 1 | g.197090316G>T | CA344001868 | ASPM | n.2996C>A c.9709C>A (p.Gln3237Lys) c.9931C>A (p.Gln3311Lys) c.9685C>A (p.Gln3229Lys) c.4954C>A (p.Gln1652Lys) c.2704C>A (p.Gln902Lys) c.3667C>A (p.Gln1223Lys) | |
| 1 | g.197090317A>C | CA422672311 | ASPM | n.2995T>G c.9708T>G (p.Leu3236=) c.9930T>G (p.Leu3310=) c.9684T>G (p.Leu3228=) c.4953T>G (p.Leu1651=) c.2703T>G (p.Leu901=) c.3666T>G (p.Leu1222=) | |
| 1 | g.197090317A>G | CA422672312 | ASPM | n.2995T>C c.9708T>C (p.Leu3236=) c.9930T>C (p.Leu3310=) c.9684T>C (p.Leu3228=) c.4953T>C (p.Leu1651=) c.2703T>C (p.Leu901=) c.3666T>C (p.Leu1222=) | |
| 1 | g.197090317A>T | CA422672313 | ASPM | n.2995T>A c.9708T>A (p.Leu3236=) c.9930T>A (p.Leu3310=) c.9684T>A (p.Leu3228=) c.4953T>A (p.Leu1651=) c.2703T>A (p.Leu901=) c.3666T>A (p.Leu1222=) | |
| 1 | g.197090318A>C | CA344001869 | ASPM | n.2994T>G c.9707T>G (p.Leu3236Arg) c.9929T>G (p.Leu3310Arg) c.9683T>G (p.Leu3228Arg) c.4952T>G (p.Leu1651Arg) c.2702T>G (p.Leu901Arg) c.3665T>G (p.Leu1222Arg) | |
| 1 | g.197090318A>G | CA344001870 | ASPM | n.2994T>C c.9707T>C (p.Leu3236Pro) c.9929T>C (p.Leu3310Pro) c.9683T>C (p.Leu3228Pro) c.4952T>C (p.Leu1651Pro) c.2702T>C (p.Leu901Pro) c.3665T>C (p.Leu1222Pro) | |
| 1 | g.197090318A>T | CA344001871 | ASPM | n.2994T>A c.9707T>A (p.Leu3236His) c.9929T>A (p.Leu3310His) c.9683T>A (p.Leu3228His) c.4952T>A (p.Leu1651His) c.2702T>A (p.Leu901His) c.3665T>A (p.Leu1222His) | |
| 1 | g.197090319G>A | CA344001874 | ASPM | n.2993C>T c.9706C>T (p.Leu3236Phe) c.9928C>T (p.Leu3310Phe) c.9682C>T (p.Leu3228Phe) c.4951C>T (p.Leu1651Phe) c.2701C>T (p.Leu901Phe) c.3664C>T (p.Leu1222Phe) | |
| 1 | g.197090319G>C | CA344001872 | ASPM | n.2993C>G c.9706C>G (p.Leu3236Val) c.9928C>G (p.Leu3310Val) c.9682C>G (p.Leu3228Val) c.4951C>G (p.Leu1651Val) c.2701C>G (p.Leu901Val) c.3664C>G (p.Leu1222Val) | gnomAD v4 |
| 1 | g.197090319G= | CA1217925285 | ASPM | n.2993C= c.9706C= (p.Leu3236=) c.9928C= (p.Leu3310=) c.9682C= (p.Leu3228=) c.4951C= (p.Leu1651=) c.2701C= (p.Leu901=) c.3664C= (p.Leu1222=) | |
| 1 | g.197090319G>T | CA344001873 | ASPM | n.2993C>A c.9706C>A (p.Leu3236Ile) c.9928C>A (p.Leu3310Ile) c.9682C>A (p.Leu3228Ile) c.4951C>A (p.Leu1651Ile) c.2701C>A (p.Leu901Ile) c.3664C>A (p.Leu1222Ile) | dbSNP |
| 1 | g.197090320A>C | CA344001875 | ASPM | n.2992T>G c.9705T>G (p.Ser3235Arg) c.9927T>G (p.Ser3309Arg) c.9681T>G (p.Ser3227Arg) c.4950T>G (p.Ser1650Arg) c.2700T>G (p.Ser900Arg) c.3663T>G (p.Ser1221Arg) | |
| 1 | g.197090320A>G | CA422672315 | ASPM | n.2992T>C c.9705T>C (p.Ser3235=) c.9927T>C (p.Ser3309=) c.9681T>C (p.Ser3227=) c.4950T>C (p.Ser1650=) c.2700T>C (p.Ser900=) c.3663T>C (p.Ser1221=) | |
| 1 | g.197090320A>T | CA344001876 | ASPM | n.2992T>A c.9705T>A (p.Ser3235Arg) c.9927T>A (p.Ser3309Arg) c.9681T>A (p.Ser3227Arg) c.4950T>A (p.Ser1650Arg) c.2700T>A (p.Ser900Arg) c.3663T>A (p.Ser1221Arg) | |
| 1 | g.197090321C>A | CA344001877 | ASPM | n.2991G>T c.9704G>T (p.Ser3235Ile) c.9926G>T (p.Ser3309Ile) c.9680G>T (p.Ser3227Ile) c.4949G>T (p.Ser1650Ile) c.2699G>T (p.Ser900Ile) c.3662G>T (p.Ser1221Ile) | COSMIC |
| 1 | g.197090321C>G | CA344001878 | ASPM | n.2991G>C c.9704G>C (p.Ser3235Thr) c.9926G>C (p.Ser3309Thr) c.9680G>C (p.Ser3227Thr) c.4949G>C (p.Ser1650Thr) c.2699G>C (p.Ser900Thr) c.3662G>C (p.Ser1221Thr) | |
| 1 | g.197090321C>T | CA344001879 | ASPM | n.2991G>A c.9704G>A (p.Ser3235Asn) c.9926G>A (p.Ser3309Asn) c.9680G>A (p.Ser3227Asn) c.4949G>A (p.Ser1650Asn) c.2699G>A (p.Ser900Asn) c.3662G>A (p.Ser1221Asn) | gnomAD v4 |
| 1 | g.197090322T>A | CA344001882 | ASPM | n.2990A>T c.9703A>T (p.Ser3235Cys) c.9925A>T (p.Ser3309Cys) c.9679A>T (p.Ser3227Cys) c.4948A>T (p.Ser1650Cys) c.2698A>T (p.Ser900Cys) c.3661A>T (p.Ser1221Cys) | |
| 1 | g.197090322T>C | CA344001880 | ASPM | n.2990A>G c.9703A>G (p.Ser3235Gly) c.9925A>G (p.Ser3309Gly) c.9679A>G (p.Ser3227Gly) c.4948A>G (p.Ser1650Gly) c.2698A>G (p.Ser900Gly) c.3661A>G (p.Ser1221Gly) | |
| 1 | g.197090322T>G | CA344001881 | ASPM | n.2990A>C c.9703A>C (p.Ser3235Arg) c.9925A>C (p.Ser3309Arg) c.9679A>C (p.Ser3227Arg) c.4948A>C (p.Ser1650Arg) c.2698A>C (p.Ser900Arg) c.3661A>C (p.Ser1221Arg) | |
| 1 | g.197090323T>A | CA422672316 | ASPM | n.2989A>T c.9702A>T (p.Leu3234=) c.9924A>T (p.Leu3308=) c.9678A>T (p.Leu3226=) c.4947A>T (p.Leu1649=) c.2697A>T (p.Leu899=) c.3660A>T (p.Leu1220=) | dbSNP |
| 1 | g.197090323T>C | CA1308878 | ASPM | n.2989A>G c.9702A>G (p.Leu3234=) c.9924A>G (p.Leu3308=) c.9678A>G (p.Leu3226=) c.4947A>G (p.Leu1649=) c.2697A>G (p.Leu899=) c.3660A>G (p.Leu1220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090323T>G | CA422672317 | ASPM | n.2989A>C c.9702A>C (p.Leu3234=) c.9924A>C (p.Leu3308=) c.9678A>C (p.Leu3226=) c.4947A>C (p.Leu1649=) c.2697A>C (p.Leu899=) c.3660A>C (p.Leu1220=) | |
| 1 | g.197090323T= | CA1217925286 | ASPM | n.2989A= c.9702A= (p.Leu3234=) c.9924A= (p.Leu3308=) c.9678A= (p.Leu3226=) c.4947A= (p.Leu1649=) c.2697A= (p.Leu899=) c.3660A= (p.Leu1220=) | |
| 1 | g.197090324A>C | CA344001883 | ASPM | n.2988T>G c.9701T>G (p.Leu3234Arg) c.9923T>G (p.Leu3308Arg) c.9677T>G (p.Leu3226Arg) c.4946T>G (p.Leu1649Arg) c.2696T>G (p.Leu899Arg) c.3659T>G (p.Leu1220Arg) | |
| 1 | g.197090324A>G | CA344001884 | ASPM | n.2988T>C c.9701T>C (p.Leu3234Pro) c.9923T>C (p.Leu3308Pro) c.9677T>C (p.Leu3226Pro) c.4946T>C (p.Leu1649Pro) c.2696T>C (p.Leu899Pro) c.3659T>C (p.Leu1220Pro) | |
| 1 | g.197090324A>T | CA344001885 | ASPM | n.2988T>A c.9701T>A (p.Leu3234Gln) c.9923T>A (p.Leu3308Gln) c.9677T>A (p.Leu3226Gln) c.4946T>A (p.Leu1649Gln) c.2696T>A (p.Leu899Gln) c.3659T>A (p.Leu1220Gln) | |
| 1 | g.197090324dup | CA2649660641 | ASPM | n.2988dup c.9701dup (p.Ser3235LysfsTer6) c.9923dup (p.Ser3309LysfsTer6) c.9677dup (p.Ser3227LysfsTer6) c.4946dup (p.Ser1650LysfsTer6) c.2696dup (p.Ser900LysfsTer6) c.3659dup (p.Ser1221LysfsTer6) | gnomAD v4 |
| 1 | g.197090325G>A | CA422672318 | ASPM | n.2987C>T c.9700C>T (p.Leu3234=) c.9922C>T (p.Leu3308=) c.9676C>T (p.Leu3226=) c.4945C>T (p.Leu1649=) c.2695C>T (p.Leu899=) c.3658C>T (p.Leu1220=) | |
| 1 | g.197090325G>C | CA344001886 | ASPM | n.2987C>G c.9700C>G (p.Leu3234Val) c.9922C>G (p.Leu3308Val) c.9676C>G (p.Leu3226Val) c.4945C>G (p.Leu1649Val) c.2695C>G (p.Leu899Val) c.3658C>G (p.Leu1220Val) | |
| 1 | g.197090325G>T | CA344001887 | ASPM | n.2987C>A c.9700C>A (p.Leu3234Ile) c.9922C>A (p.Leu3308Ile) c.9676C>A (p.Leu3226Ile) c.4945C>A (p.Leu1649Ile) c.2695C>A (p.Leu899Ile) c.3658C>A (p.Leu1220Ile) | |
| 1 | g.197090326T>A | CA422672322 | ASPM | n.2986A>T c.9699A>T (p.Arg3233=) c.9921A>T (p.Arg3307=) c.9675A>T (p.Arg3225=) c.4944A>T (p.Arg1648=) c.2694A>T (p.Arg898=) c.3657A>T (p.Arg1219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090326T>C | CA422672321 | ASPM | n.2986A>G c.9699A>G (p.Arg3233=) c.9921A>G (p.Arg3307=) c.9675A>G (p.Arg3225=) c.4944A>G (p.Arg1648=) c.2694A>G (p.Arg898=) c.3657A>G (p.Arg1219=) | |
| 1 | g.197090326T>G | CA422672319 | ASPM | n.2986A>C c.9699A>C (p.Arg3233=) c.9921A>C (p.Arg3307=) c.9675A>C (p.Arg3225=) c.4944A>C (p.Arg1648=) c.2694A>C (p.Arg898=) c.3657A>C (p.Arg1219=) | |
| 1 | g.197090326T= | CA1217925287 | ASPM | n.2986A= c.9699A= (p.Arg3233=) c.9921A= (p.Arg3307=) c.9675A= (p.Arg3225=) c.4944A= (p.Arg1648=) c.2694A= (p.Arg898=) c.3657A= (p.Arg1219=) | |
| 1 | g.197090327C>A | CA344001889 | ASPM | n.2985G>T c.9698G>T (p.Arg3233Leu) c.9920G>T (p.Arg3307Leu) c.9674G>T (p.Arg3225Leu) c.4943G>T (p.Arg1648Leu) c.2693G>T (p.Arg898Leu) c.3656G>T (p.Arg1219Leu) | gnomAD v4 |
| 1 | g.197090327C= | CA1217925291 | ASPM | n.2985G= c.9698G= (p.Arg3233=) c.9920G= (p.Arg3307=) c.9674G= (p.Arg3225=) c.4943G= (p.Arg1648=) c.2693G= (p.Arg898=) c.3656G= (p.Arg1219=) | |
| 1 | g.197090327C>G | CA344001888 | ASPM | n.2985G>C c.9698G>C (p.Arg3233Pro) c.9920G>C (p.Arg3307Pro) c.9674G>C (p.Arg3225Pro) c.4943G>C (p.Arg1648Pro) c.2693G>C (p.Arg898Pro) c.3656G>C (p.Arg1219Pro) | |
| 1 | g.197090327C>T | CA35862002 | ASPM | n.2985G>A c.9698G>A (p.Arg3233Gln) c.9920G>A (p.Arg3307Gln) c.9674G>A (p.Arg3225Gln) c.4943G>A (p.Arg1648Gln) c.2693G>A (p.Arg898Gln) c.3656G>A (p.Arg1219Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197090328G>A | CA342307 | ASPM | n.2984C>T c.9697C>T (p.Arg3233Ter) c.9919C>T (p.Arg3307Ter) c.9673C>T (p.Arg3225Ter) c.4942C>T (p.Arg1648Ter) c.2692C>T (p.Arg898Ter) c.3655C>T (p.Arg1219Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090328G>C | CA344001890 | ASPM | n.2984C>G c.9697C>G (p.Arg3233Gly) c.9919C>G (p.Arg3307Gly) c.9673C>G (p.Arg3225Gly) c.4942C>G (p.Arg1648Gly) c.2692C>G (p.Arg898Gly) c.3655C>G (p.Arg1219Gly) | |
| 1 | g.197090328G= | CA1143355786 | ASPM | n.2984C= c.9697C= (p.Arg3233=) c.9919C= (p.Arg3307=) c.9673C= (p.Arg3225=) c.4942C= (p.Arg1648=) c.2692C= (p.Arg898=) c.3655C= (p.Arg1219=) | |
| 1 | g.197090328G>T | CA422672323 | ASPM | n.2984C>A c.9697C>A (p.Arg3233=) c.9919C>A (p.Arg3307=) c.9673C>A (p.Arg3225=) c.4942C>A (p.Arg1648=) c.2692C>A (p.Arg898=) c.3655C>A (p.Arg1219=) | gnomAD v4 |
| 1 | g.197090329T>A | CA422672325 | ASPM | n.2983A>T c.9696A>T (p.Ile3232=) c.9918A>T (p.Ile3306=) c.9672A>T (p.Ile3224=) c.4941A>T (p.Ile1647=) c.2691A>T (p.Ile897=) c.3654A>T (p.Ile1218=) | |
| 1 | g.197090329T>C | CA344001891 | ASPM | n.2983A>G c.9696A>G (p.Ile3232Met) c.9918A>G (p.Ile3306Met) c.9672A>G (p.Ile3224Met) c.4941A>G (p.Ile1647Met) c.2691A>G (p.Ile897Met) c.3654A>G (p.Ile1218Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090329T>G | CA422672327 | ASPM | n.2983A>C c.9696A>C (p.Ile3232=) c.9918A>C (p.Ile3306=) c.9672A>C (p.Ile3224=) c.4941A>C (p.Ile1647=) c.2691A>C (p.Ile897=) c.3654A>C (p.Ile1218=) | |
| 1 | g.197090329T= | CA1217925295 | ASPM | n.2983A= c.9696A= (p.Ile3232=) c.9918A= (p.Ile3306=) c.9672A= (p.Ile3224=) c.4941A= (p.Ile1647=) c.2691A= (p.Ile897=) c.3654A= (p.Ile1218=) | |
| 1 | g.197090330A= | CA1217925296 | ASPM | n.2982T= c.9695T= (p.Ile3232=) c.9917T= (p.Ile3306=) c.9671T= (p.Ile3224=) c.4940T= (p.Ile1647=) c.2690T= (p.Ile897=) c.3653T= (p.Ile1218=) | |
| 1 | g.197090330A>C | CA344001892 | ASPM | n.2982T>G c.9695T>G (p.Ile3232Arg) c.9917T>G (p.Ile3306Arg) c.9671T>G (p.Ile3224Arg) c.4940T>G (p.Ile1647Arg) c.2690T>G (p.Ile897Arg) c.3653T>G (p.Ile1218Arg) | |
| 1 | g.197090330A>G | CA1308879 | ASPM | n.2982T>C c.9695T>C (p.Ile3232Thr) c.9917T>C (p.Ile3306Thr) c.9671T>C (p.Ile3224Thr) c.4940T>C (p.Ile1647Thr) c.2690T>C (p.Ile897Thr) c.3653T>C (p.Ile1218Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090330A>T | CA344001893 | ASPM | n.2982T>A c.9695T>A (p.Ile3232Lys) c.9917T>A (p.Ile3306Lys) c.9671T>A (p.Ile3224Lys) c.4940T>A (p.Ile1647Lys) c.2690T>A (p.Ile897Lys) c.3653T>A (p.Ile1218Lys) | |
| 1 | g.197090331T>A | CA344001894 | ASPM | n.2981A>T c.9694A>T (p.Ile3232Leu) c.9916A>T (p.Ile3306Leu) c.9670A>T (p.Ile3224Leu) c.4939A>T (p.Ile1647Leu) c.2689A>T (p.Ile897Leu) c.3652A>T (p.Ile1218Leu) | |
| 1 | g.197090331T>C | CA1308880 | ASPM | n.2981A>G c.9694A>G (p.Ile3232Val) c.9916A>G (p.Ile3306Val) c.9670A>G (p.Ile3224Val) c.4939A>G (p.Ile1647Val) c.2689A>G (p.Ile897Val) c.3652A>G (p.Ile1218Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090331T>G | CA344001895 | ASPM | n.2981A>C c.9694A>C (p.Ile3232Leu) c.9916A>C (p.Ile3306Leu) c.9670A>C (p.Ile3224Leu) c.4939A>C (p.Ile1647Leu) c.2689A>C (p.Ile897Leu) c.3652A>C (p.Ile1218Leu) | |
| 1 | g.197090331T= | CA1217925297 | ASPM | n.2981A= c.9694A= (p.Ile3232=) c.9916A= (p.Ile3306=) c.9670A= (p.Ile3224=) c.4939A= (p.Ile1647=) c.2689A= (p.Ile897=) c.3652A= (p.Ile1218=) | |
| 1 | g.197090332A>C | CA422672329 | ASPM | n.2980T>G c.9693T>G (p.Ala3231=) c.9915T>G (p.Ala3305=) c.9669T>G (p.Ala3223=) c.4938T>G (p.Ala1646=) c.2688T>G (p.Ala896=) c.3651T>G (p.Ala1217=) | |
| 1 | g.197090332A>G | CA422672330 | ASPM | n.2980T>C c.9693T>C (p.Ala3231=) c.9915T>C (p.Ala3305=) c.9669T>C (p.Ala3223=) c.4938T>C (p.Ala1646=) c.2688T>C (p.Ala896=) c.3651T>C (p.Ala1217=) | gnomAD v4 |
| 1 | g.197090332A>T | CA422672331 | ASPM | n.2980T>A c.9693T>A (p.Ala3231=) c.9915T>A (p.Ala3305=) c.9669T>A (p.Ala3223=) c.4938T>A (p.Ala1646=) c.2688T>A (p.Ala896=) c.3651T>A (p.Ala1217=) | |
| 1 | g.197090333G>A | CA344001896 | ASPM | n.2979C>T c.9692C>T (p.Ala3231Val) c.9914C>T (p.Ala3305Val) c.9668C>T (p.Ala3223Val) c.4937C>T (p.Ala1646Val) c.2687C>T (p.Ala896Val) c.3650C>T (p.Ala1217Val) | |
| 1 | g.197090333G>C | CA344001897 | ASPM | n.2979C>G c.9692C>G (p.Ala3231Gly) c.9914C>G (p.Ala3305Gly) c.9668C>G (p.Ala3223Gly) c.4937C>G (p.Ala1646Gly) c.2687C>G (p.Ala896Gly) c.3650C>G (p.Ala1217Gly) | |
| 1 | g.197090333G>T | CA344001898 | ASPM | n.2979C>A c.9692C>A (p.Ala3231Asp) c.9914C>A (p.Ala3305Asp) c.9668C>A (p.Ala3223Asp) c.4937C>A (p.Ala1646Asp) c.2687C>A (p.Ala896Asp) c.3650C>A (p.Ala1217Asp) | |
| 1 | g.197090334C>A | CA344001899 | ASPM | n.2978G>T c.9691G>T (p.Ala3231Ser) c.9913G>T (p.Ala3305Ser) c.9667G>T (p.Ala3223Ser) c.4936G>T (p.Ala1646Ser) c.2686G>T (p.Ala896Ser) c.3649G>T (p.Ala1217Ser) | COSMIC |
| 1 | g.197090334C>G | CA344001900 | ASPM | n.2978G>C c.9691G>C (p.Ala3231Pro) c.9913G>C (p.Ala3305Pro) c.9667G>C (p.Ala3223Pro) c.4936G>C (p.Ala1646Pro) c.2686G>C (p.Ala896Pro) c.3649G>C (p.Ala1217Pro) | |
| 1 | g.197090334C>T | CA344001901 | ASPM | n.2978G>A c.9691G>A (p.Ala3231Thr) c.9913G>A (p.Ala3305Thr) c.9667G>A (p.Ala3223Thr) c.4936G>A (p.Ala1646Thr) c.2686G>A (p.Ala896Thr) c.3649G>A (p.Ala1217Thr) | |
| 1 | g.197090334_197090339delinsCTTTAA | CA1217925299 | ASPM | n.2973_2978delinsTTAAAG c.9686_9691delinsTTAAAG (p.Ile3229=) c.9908_9913delinsTTAAAG (p.Ile3303=) c.9662_9667delinsTTAAAG (p.Ile3221=) c.4931_4936delinsTTAAAG (p.Ile1644=) c.2681_2686delinsTTAAAG (p.Ile894=) c.3644_3649delinsTTAAAG (p.Ile1215=) | |
| 1 | g.197090335T>A | CA344001902 | ASPM | n.2977A>T c.9690A>T (p.Lys3230Asn) c.9912A>T (p.Lys3304Asn) c.9666A>T (p.Lys3222Asn) c.4935A>T (p.Lys1645Asn) c.2685A>T (p.Lys895Asn) c.3648A>T (p.Lys1216Asn) | |
| 1 | g.197090335T>C | CA422672332 | ASPM | n.2977A>G c.9690A>G (p.Lys3230=) c.9912A>G (p.Lys3304=) c.9666A>G (p.Lys3222=) c.4935A>G (p.Lys1645=) c.2685A>G (p.Lys895=) c.3648A>G (p.Lys1216=) | |
| 1 | g.197090335T>G | CA344001903 | ASPM | n.2977A>C c.9690A>C (p.Lys3230Asn) c.9912A>C (p.Lys3304Asn) c.9666A>C (p.Lys3222Asn) c.4935A>C (p.Lys1645Asn) c.2685A>C (p.Lys895Asn) c.3648A>C (p.Lys1216Asn) | |
| 1 | g.197090335_197090342delinsTTTAATTT | CA1143355787 | ASPM | n.2970_2977delinsAAATTAAA c.9683_9690delinsAAATTAAA (p.Lys3228=) c.9905_9912delinsAAATTAAA (p.Lys3302=) c.9659_9666delinsAAATTAAA (p.Lys3220=) c.4928_4935delinsAAATTAAA (p.Lys1643=) c.2678_2685delinsAAATTAAA (p.Lys893=) c.3641_3648delinsAAATTAAA (p.Lys1214=) | |
| 1 | g.197090338_197090342del | CA342306 | ASPM | n.2973_2977del c.9686_9690del (p.Ile3229SerfsTer10) c.9908_9912del (p.Ile3303SerfsTer10) c.9662_9666del (p.Ile3221SerfsTer10) c.4931_4935del (p.Ile1644SerfsTer10) c.2681_2685del (p.Ile894SerfsTer10) c.3644_3648del (p.Ile1215SerfsTer10) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197090338_197090343dup | CA2649660642 | ASPM | n.2972_2977dup c.9685_9690dup (p.Lys3230_Ala3231insIleLys) c.9907_9912dup (p.Lys3304_Ala3305insIleLys) c.9661_9666dup (p.Lys3222_Ala3223insIleLys) c.4930_4935dup (p.Lys1645_Ala1646insIleLys) c.2680_2685dup (p.Lys895_Ala896insIleLys) c.3643_3648dup (p.Lys1216_Ala1217insIleLys) | gnomAD v4 |
| 1 | g.197090336T>A | CA344001904 | ASPM | n.2976A>T c.9689A>T (p.Lys3230Ile) c.9911A>T (p.Lys3304Ile) c.9665A>T (p.Lys3222Ile) c.4934A>T (p.Lys1645Ile) c.2684A>T (p.Lys895Ile) c.3647A>T (p.Lys1216Ile) | |
| 1 | g.197090336T>C | CA344001905 | ASPM | n.2976A>G c.9689A>G (p.Lys3230Arg) c.9911A>G (p.Lys3304Arg) c.9665A>G (p.Lys3222Arg) c.4934A>G (p.Lys1645Arg) c.2684A>G (p.Lys895Arg) c.3647A>G (p.Lys1216Arg) | |
| 1 | g.197090336T>G | CA344001906 | ASPM | n.2976A>C c.9689A>C (p.Lys3230Thr) c.9911A>C (p.Lys3304Thr) c.9665A>C (p.Lys3222Thr) c.4934A>C (p.Lys1645Thr) c.2684A>C (p.Lys895Thr) c.3647A>C (p.Lys1216Thr) | |
| 1 | g.197090337T>A | CA344001909 | ASPM | n.2975A>T c.9688A>T (p.Lys3230Ter) c.9910A>T (p.Lys3304Ter) c.9664A>T (p.Lys3222Ter) c.4933A>T (p.Lys1645Ter) c.2683A>T (p.Lys895Ter) c.3646A>T (p.Lys1216Ter) | |
| 1 | g.197090337T>C | CA344001907 | ASPM | n.2975A>G c.9688A>G (p.Lys3230Glu) c.9910A>G (p.Lys3304Glu) c.9664A>G (p.Lys3222Glu) c.4933A>G (p.Lys1645Glu) c.2683A>G (p.Lys895Glu) c.3646A>G (p.Lys1216Glu) | |
| 1 | g.197090337T>G | CA344001908 | ASPM | n.2975A>C c.9688A>C (p.Lys3230Gln) c.9910A>C (p.Lys3304Gln) c.9664A>C (p.Lys3222Gln) c.4933A>C (p.Lys1645Gln) c.2683A>C (p.Lys895Gln) c.3646A>C (p.Lys1216Gln) | |
| 1 | g.197090338A>C | CA344001910 | ASPM | n.2974T>G c.9687T>G (p.Ile3229Met) c.9909T>G (p.Ile3303Met) c.9663T>G (p.Ile3221Met) c.4932T>G (p.Ile1644Met) c.2682T>G (p.Ile894Met) c.3645T>G (p.Ile1215Met) | |
| 1 | g.197090338A>G | CA422672334 | ASPM | n.2974T>C c.9687T>C (p.Ile3229=) c.9909T>C (p.Ile3303=) c.9663T>C (p.Ile3221=) c.4932T>C (p.Ile1644=) c.2682T>C (p.Ile894=) c.3645T>C (p.Ile1215=) | |
| 1 | g.197090338A>T | CA422672335 | ASPM | n.2974T>A c.9687T>A (p.Ile3229=) c.9909T>A (p.Ile3303=) c.9663T>A (p.Ile3221=) c.4932T>A (p.Ile1644=) c.2682T>A (p.Ile894=) c.3645T>A (p.Ile1215=) | |
| 1 | g.197090339A= | CA1217925301 | ASPM | n.2973T= c.9686T= (p.Ile3229=) c.9908T= (p.Ile3303=) c.9662T= (p.Ile3221=) c.4931T= (p.Ile1644=) c.2681T= (p.Ile894=) c.3644T= (p.Ile1215=) | |
| 1 | g.197090339A>C | CA344001911 | ASPM | n.2973T>G c.9686T>G (p.Ile3229Ser) c.9908T>G (p.Ile3303Ser) c.9662T>G (p.Ile3221Ser) c.4931T>G (p.Ile1644Ser) c.2681T>G (p.Ile894Ser) c.3644T>G (p.Ile1215Ser) | |
| 1 | g.197090339A>G | CA344001912 | ASPM | n.2973T>C c.9686T>C (p.Ile3229Thr) c.9908T>C (p.Ile3303Thr) c.9662T>C (p.Ile3221Thr) c.4931T>C (p.Ile1644Thr) c.2681T>C (p.Ile894Thr) c.3644T>C (p.Ile1215Thr) | |
| 1 | g.197090339A>T | CA344001913 | ASPM | n.2973T>A c.9686T>A (p.Ile3229Asn) c.9908T>A (p.Ile3303Asn) c.9662T>A (p.Ile3221Asn) c.4931T>A (p.Ile1644Asn) c.2681T>A (p.Ile894Asn) c.3644T>A (p.Ile1215Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090339_197090340delinsAT | CA1217925302 | ASPM | n.2972_2973delinsAT c.9685_9686delinsAT (p.Ile3229=) c.9907_9908delinsAT (p.Ile3303=) c.9661_9662delinsAT (p.Ile3221=) c.4930_4931delinsAT (p.Ile1644=) c.2680_2681delinsAT (p.Ile894=) c.3643_3644delinsAT (p.Ile1215=) | |
| 1 | g.197090339_197090340insAACACCTAGGTTAG | CA1217925305 | ASPM | n.2972_2973insCTAACCTAGGTGTT c.9685_9686insCTAACCTAGGTGTT (p.Ile3229ThrfsTer11) c.9907_9908insCTAACCTAGGTGTT (p.Ile3303ThrfsTer11) c.9661_9662insCTAACCTAGGTGTT (p.Ile3221ThrfsTer11) c.4930_4931insCTAACCTAGGTGTT (p.Ile1644ThrfsTer11) c.2680_2681insCTAACCTAGGTGTT (p.Ile894ThrfsTer11) c.3643_3644insCTAACCTAGGTGTT (p.Ile1215ThrfsTer11) | dbSNP |
| 1 | g.197090340T>A | CA344001914 | ASPM | n.2972A>T c.9685A>T (p.Ile3229Phe) c.9907A>T (p.Ile3303Phe) c.9661A>T (p.Ile3221Phe) c.4930A>T (p.Ile1644Phe) c.2680A>T (p.Ile894Phe) c.3643A>T (p.Ile1215Phe) | |
| 1 | g.197090340T>C | CA344001915 | ASPM | n.2972A>G c.9685A>G (p.Ile3229Val) c.9907A>G (p.Ile3303Val) c.9661A>G (p.Ile3221Val) c.4930A>G (p.Ile1644Val) c.2680A>G (p.Ile894Val) c.3643A>G (p.Ile1215Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090340T>G | CA344001916 | ASPM | n.2972A>C c.9685A>C (p.Ile3229Leu) c.9907A>C (p.Ile3303Leu) c.9661A>C (p.Ile3221Leu) c.4930A>C (p.Ile1644Leu) c.2680A>C (p.Ile894Leu) c.3643A>C (p.Ile1215Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090340T= | CA1217925307 | ASPM | n.2972A= c.9685A= (p.Ile3229=) c.9907A= (p.Ile3303=) c.9661A= (p.Ile3221=) c.4930A= (p.Ile1644=) c.2680A= (p.Ile894=) c.3643A= (p.Ile1215=) | |
| 1 | g.197090340_197090344delinsTTTTT | CA1143355788 | ASPM | n.2968_2972delinsAAAAA c.9681_9685delinsAAAAA (p.Thr3227=) c.9903_9907delinsAAAAA (p.Thr3301=) c.9657_9661delinsAAAAA (p.Thr3219=) c.4926_4930delinsAAAAA (p.Thr1642=) c.2676_2680delinsAAAAA (p.Thr892=) c.3639_3643delinsAAAAA (p.Thr1213=) | |
| 1 | g.197090344del | CA342305 | ASPM | n.2972del c.9685del (p.Ile3229LeufsTer6) c.9907del (p.Ile3303LeufsTer6) c.9661del (p.Ile3221LeufsTer6) c.4930del (p.Ile1644LeufsTer6) c.2680del (p.Ile894LeufsTer6) c.3643del (p.Ile1215LeufsTer6) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.197090341T>A | CA344001917 | ASPM | n.2971A>T c.9684A>T (p.Lys3228Asn) c.9906A>T (p.Lys3302Asn) c.9660A>T (p.Lys3220Asn) c.4929A>T (p.Lys1643Asn) c.2679A>T (p.Lys893Asn) c.3642A>T (p.Lys1214Asn) | |
| 1 | g.197090341T>C | CA422672339 | ASPM | n.2971A>G c.9684A>G (p.Lys3228=) c.9906A>G (p.Lys3302=) c.9660A>G (p.Lys3220=) c.4929A>G (p.Lys1643=) c.2679A>G (p.Lys893=) c.3642A>G (p.Lys1214=) | |
| 1 | g.197090341T>G | CA344001918 | ASPM | n.2971A>C c.9684A>C (p.Lys3228Asn) c.9906A>C (p.Lys3302Asn) c.9660A>C (p.Lys3220Asn) c.4929A>C (p.Lys1643Asn) c.2679A>C (p.Lys893Asn) c.3642A>C (p.Lys1214Asn) | |
| 1 | g.197090342T>A | CA344001919 | ASPM | n.2970A>T c.9683A>T (p.Lys3228Ile) c.9905A>T (p.Lys3302Ile) c.9659A>T (p.Lys3220Ile) c.4928A>T (p.Lys1643Ile) c.2678A>T (p.Lys893Ile) c.3641A>T (p.Lys1214Ile) | |
| 1 | g.197090342T>C | CA344001920 | ASPM | n.2970A>G c.9683A>G (p.Lys3228Arg) c.9905A>G (p.Lys3302Arg) c.9659A>G (p.Lys3220Arg) c.4928A>G (p.Lys1643Arg) c.2678A>G (p.Lys893Arg) c.3641A>G (p.Lys1214Arg) | |
| 1 | g.197090342T>G | CA344001921 | ASPM | n.2970A>C c.9683A>C (p.Lys3228Thr) c.9905A>C (p.Lys3302Thr) c.9659A>C (p.Lys3220Thr) c.4928A>C (p.Lys1643Thr) c.2678A>C (p.Lys893Thr) c.3641A>C (p.Lys1214Thr) | |
| 1 | g.197090343T>A | CA344001925 | ASPM | n.2969A>T c.9682A>T (p.Lys3228Ter) c.9904A>T (p.Lys3302Ter) c.9658A>T (p.Lys3220Ter) c.4927A>T (p.Lys1643Ter) c.2677A>T (p.Lys893Ter) c.3640A>T (p.Lys1214Ter) | |
| 1 | g.197090343T>C | CA344001923 | ASPM | n.2969A>G c.9682A>G (p.Lys3228Glu) c.9904A>G (p.Lys3302Glu) c.9658A>G (p.Lys3220Glu) c.4927A>G (p.Lys1643Glu) c.2677A>G (p.Lys893Glu) c.3640A>G (p.Lys1214Glu) | ClinVar dbSNP |
| 1 | g.197090343T>G | CA344001922 | ASPM | n.2969A>C c.9682A>C (p.Lys3228Gln) c.9904A>C (p.Lys3302Gln) c.9658A>C (p.Lys3220Gln) c.4927A>C (p.Lys1643Gln) c.2677A>C (p.Lys893Gln) c.3640A>C (p.Lys1214Gln) | COSMIC |
| 1 | g.197090343T= | CA1217925311 | ASPM | n.2969A= c.9682A= (p.Lys3228=) c.9904A= (p.Lys3302=) c.9658A= (p.Lys3220=) c.4927A= (p.Lys1643=) c.2677A= (p.Lys893=) c.3640A= (p.Lys1214=) |