Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197090228A>C | CA344001673 | ASPM | n.3084T>G c.9797T>G (p.Leu3266Arg) c.10019T>G (p.Leu3340Arg) c.9773T>G (p.Leu3258Arg) c.5042T>G (p.Leu1681Arg) c.2792T>G (p.Leu931Arg) c.3755T>G (p.Leu1252Arg) | |
1 | g.197090228A>G | CA344001674 | ASPM | n.3084T>C c.9797T>C (p.Leu3266Pro) c.10019T>C (p.Leu3340Pro) c.9773T>C (p.Leu3258Pro) c.5042T>C (p.Leu1681Pro) c.2792T>C (p.Leu931Pro) c.3755T>C (p.Leu1252Pro) | |
1 | g.197090228A>T | CA344001675 | ASPM | n.3084T>A c.9797T>A (p.Leu3266His) c.10019T>A (p.Leu3340His) c.9773T>A (p.Leu3258His) c.5042T>A (p.Leu1681His) c.2792T>A (p.Leu931His) c.3755T>A (p.Leu1252His) | |
1 | g.197090229G>A | CA344001676 | ASPM | n.3083C>T c.9796C>T (p.Leu3266Phe) c.10018C>T (p.Leu3340Phe) c.9772C>T (p.Leu3258Phe) c.5041C>T (p.Leu1681Phe) c.2791C>T (p.Leu931Phe) c.3754C>T (p.Leu1252Phe) | |
1 | g.197090229G>C | CA344001677 | ASPM | n.3083C>G c.9796C>G (p.Leu3266Val) c.10018C>G (p.Leu3340Val) c.9772C>G (p.Leu3258Val) c.5041C>G (p.Leu1681Val) c.2791C>G (p.Leu931Val) c.3754C>G (p.Leu1252Val) | |
1 | g.197090229G= | CA1217925149 | ASPM | n.3083C= c.9796C= (p.Leu3266=) c.10018C= (p.Leu3340=) c.9772C= (p.Leu3258=) c.5041C= (p.Leu1681=) c.2791C= (p.Leu931=) c.3754C= (p.Leu1252=) | |
1 | g.197090229G>T | CA344001678 | ASPM | n.3083C>A c.9796C>A (p.Leu3266Ile) c.10018C>A (p.Leu3340Ile) c.9772C>A (p.Leu3258Ile) c.5041C>A (p.Leu1681Ile) c.2791C>A (p.Leu931Ile) c.3754C>A (p.Leu1252Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090230G>A | CA422805168 | ASPM | n.3082C>T c.9795C>T (p.His3265=) c.10017C>T (p.His3339=) c.9771C>T (p.His3257=) c.5040C>T (p.His1680=) c.2790C>T (p.His930=) c.3753C>T (p.His1251=) | |
1 | g.197090230G>C | CA344001679 | ASPM | n.3082C>G c.9795C>G (p.His3265Gln) c.10017C>G (p.His3339Gln) c.9771C>G (p.His3257Gln) c.5040C>G (p.His1680Gln) c.2790C>G (p.His930Gln) c.3753C>G (p.His1251Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090230G= | CA1217925152 | ASPM | n.3082C= c.9795C= (p.His3265=) c.10017C= (p.His3339=) c.9771C= (p.His3257=) c.5040C= (p.His1680=) c.2790C= (p.His930=) c.3753C= (p.His1251=) | |
1 | g.197090230G>T | CA344001680 | ASPM | n.3082C>A c.9795C>A (p.His3265Gln) c.10017C>A (p.His3339Gln) c.9771C>A (p.His3257Gln) c.5040C>A (p.His1680Gln) c.2790C>A (p.His930Gln) c.3753C>A (p.His1251Gln) | gnomAD v4 |
1 | g.197090231T>A | CA344001681 | ASPM | n.3081A>T c.9794A>T (p.His3265Leu) c.10016A>T (p.His3339Leu) c.9770A>T (p.His3257Leu) c.5039A>T (p.His1680Leu) c.2789A>T (p.His930Leu) c.3752A>T (p.His1251Leu) | |
1 | g.197090231T>C | CA344001682 | ASPM | n.3081A>G c.9794A>G (p.His3265Arg) c.10016A>G (p.His3339Arg) c.9770A>G (p.His3257Arg) c.5039A>G (p.His1680Arg) c.2789A>G (p.His930Arg) c.3752A>G (p.His1251Arg) | |
1 | g.197090231T>G | CA344001683 | ASPM | n.3081A>C c.9794A>C (p.His3265Pro) c.10016A>C (p.His3339Pro) c.9770A>C (p.His3257Pro) c.5039A>C (p.His1680Pro) c.2789A>C (p.His930Pro) c.3752A>C (p.His1251Pro) | |
1 | g.197090232G>A | CA344001684 | ASPM | n.3080C>T c.9793C>T (p.His3265Tyr) c.10015C>T (p.His3339Tyr) c.9769C>T (p.His3257Tyr) c.5038C>T (p.His1680Tyr) c.2788C>T (p.His930Tyr) c.3751C>T (p.His1251Tyr) | |
1 | g.197090232G>C | CA344001686 | ASPM | n.3080C>G c.9793C>G (p.His3265Asp) c.10015C>G (p.His3339Asp) c.9769C>G (p.His3257Asp) c.5038C>G (p.His1680Asp) c.2788C>G (p.His930Asp) c.3751C>G (p.His1251Asp) | |
1 | g.197090232G>T | CA344001685 | ASPM | n.3080C>A c.9793C>A (p.His3265Asn) c.10015C>A (p.His3339Asn) c.9769C>A (p.His3257Asn) c.5038C>A (p.His1680Asn) c.2788C>A (p.His930Asn) c.3751C>A (p.His1251Asn) | |
1 | g.197090233C>A | CA344001687 | ASPM | n.3079G>T c.9792G>T (p.Lys3264Asn) c.10014G>T (p.Lys3338Asn) c.9768G>T (p.Lys3256Asn) c.5037G>T (p.Lys1679Asn) c.2787G>T (p.Lys929Asn) c.3750G>T (p.Lys1250Asn) | |
1 | g.197090233C>G | CA344001688 | ASPM | n.3079G>C c.9792G>C (p.Lys3264Asn) c.10014G>C (p.Lys3338Asn) c.9768G>C (p.Lys3256Asn) c.5037G>C (p.Lys1679Asn) c.2787G>C (p.Lys929Asn) c.3750G>C (p.Lys1250Asn) | |
1 | g.197090233C>T | CA422805187 | ASPM | n.3079G>A c.9792G>A (p.Lys3264=) c.10014G>A (p.Lys3338=) c.9768G>A (p.Lys3256=) c.5037G>A (p.Lys1679=) c.2787G>A (p.Lys929=) c.3750G>A (p.Lys1250=) | gnomAD v4 |
1 | g.197090234T>A | CA344001689 | ASPM | n.3078A>T c.9791A>T (p.Lys3264Met) c.10013A>T (p.Lys3338Met) c.9767A>T (p.Lys3256Met) c.5036A>T (p.Lys1679Met) c.2786A>T (p.Lys929Met) c.3749A>T (p.Lys1250Met) | |
1 | g.197090234T>C | CA344001690 | ASPM | n.3078A>G c.9791A>G (p.Lys3264Arg) c.10013A>G (p.Lys3338Arg) c.9767A>G (p.Lys3256Arg) c.5036A>G (p.Lys1679Arg) c.2786A>G (p.Lys929Arg) c.3749A>G (p.Lys1250Arg) | |
1 | g.197090234T>G | CA344001691 | ASPM | n.3078A>C c.9791A>C (p.Lys3264Thr) c.10013A>C (p.Lys3338Thr) c.9767A>C (p.Lys3256Thr) c.5036A>C (p.Lys1679Thr) c.2786A>C (p.Lys929Thr) c.3749A>C (p.Lys1250Thr) | |
1 | g.197090235T>A | CA344001692 | ASPM | n.3077A>T c.9790A>T (p.Lys3264Ter) c.10012A>T (p.Lys3338Ter) c.9766A>T (p.Lys3256Ter) c.5035A>T (p.Lys1679Ter) c.2785A>T (p.Lys929Ter) c.3748A>T (p.Lys1250Ter) | |
1 | g.197090235T>C | CA344001693 | ASPM | n.3077A>G c.9790A>G (p.Lys3264Glu) c.10012A>G (p.Lys3338Glu) c.9766A>G (p.Lys3256Glu) c.5035A>G (p.Lys1679Glu) c.2785A>G (p.Lys929Glu) c.3748A>G (p.Lys1250Glu) | gnomAD v4 |
1 | g.197090235T>G | CA344001694 | ASPM | n.3077A>C c.9790A>C (p.Lys3264Gln) c.10012A>C (p.Lys3338Gln) c.9766A>C (p.Lys3256Gln) c.5035A>C (p.Lys1679Gln) c.2785A>C (p.Lys929Gln) c.3748A>C (p.Lys1250Gln) | |
1 | g.197090236A= | CA1143355782 | ASPM | n.3076T= c.9789T= (p.Tyr3263=) c.10011T= (p.Tyr3337=) c.9765T= (p.Tyr3255=) c.5034T= (p.Tyr1678=) c.2784T= (p.Tyr928=) c.3747T= (p.Tyr1249=) | |
1 | g.197090236A>C | CA344001695 | ASPM | n.3076T>G c.9789T>G (p.Tyr3263Ter) c.10011T>G (p.Tyr3337Ter) c.9765T>G (p.Tyr3255Ter) c.5034T>G (p.Tyr1678Ter) c.2784T>G (p.Tyr928Ter) c.3747T>G (p.Tyr1249Ter) | ClinVar dbSNP |
1 | g.197090236A>G | CA35861944 | ASPM | n.3076T>C c.9789T>C (p.Tyr3263=) c.10011T>C (p.Tyr3337=) c.9765T>C (p.Tyr3255=) c.5034T>C (p.Tyr1678=) c.2784T>C (p.Tyr928=) c.3747T>C (p.Tyr1249=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.197090236A>T | CA342313 | ASPM | n.3076T>A c.9789T>A (p.Tyr3263Ter) c.10011T>A (p.Tyr3337Ter) c.9765T>A (p.Tyr3255Ter) c.5034T>A (p.Tyr1678Ter) c.2784T>A (p.Tyr928Ter) c.3747T>A (p.Tyr1249Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.197090237T>A | CA344001696 | ASPM | n.3075A>T c.9788A>T (p.Tyr3263Phe) c.10010A>T (p.Tyr3337Phe) c.9764A>T (p.Tyr3255Phe) c.5033A>T (p.Tyr1678Phe) c.2783A>T (p.Tyr928Phe) c.3746A>T (p.Tyr1249Phe) | |
1 | g.197090237T>C | CA344001697 | ASPM | n.3075A>G c.9788A>G (p.Tyr3263Cys) c.10010A>G (p.Tyr3337Cys) c.9764A>G (p.Tyr3255Cys) c.5033A>G (p.Tyr1678Cys) c.2783A>G (p.Tyr928Cys) c.3746A>G (p.Tyr1249Cys) | |
1 | g.197090237T>G | CA344001698 | ASPM | n.3075A>C c.9788A>C (p.Tyr3263Ser) c.10010A>C (p.Tyr3337Ser) c.9764A>C (p.Tyr3255Ser) c.5033A>C (p.Tyr1678Ser) c.2783A>C (p.Tyr928Ser) c.3746A>C (p.Tyr1249Ser) | |
1 | g.197090238A>C | CA344001699 | ASPM | n.3074T>G c.9787T>G (p.Tyr3263Asp) c.10009T>G (p.Tyr3337Asp) c.9763T>G (p.Tyr3255Asp) c.5032T>G (p.Tyr1678Asp) c.2782T>G (p.Tyr928Asp) c.3745T>G (p.Tyr1249Asp) | gnomAD v4 |
1 | g.197090238A>G | CA344001701 | ASPM | n.3074T>C c.9787T>C (p.Tyr3263His) c.10009T>C (p.Tyr3337His) c.9763T>C (p.Tyr3255His) c.5032T>C (p.Tyr1678His) c.2782T>C (p.Tyr928His) c.3745T>C (p.Tyr1249His) | gnomAD v4 |
1 | g.197090238A>T | CA344001700 | ASPM | n.3074T>A c.9787T>A (p.Tyr3263Asn) c.10009T>A (p.Tyr3337Asn) c.9763T>A (p.Tyr3255Asn) c.5032T>A (p.Tyr1678Asn) c.2782T>A (p.Tyr928Asn) c.3745T>A (p.Tyr1249Asn) | COSMIC |
1 | g.197090239T>A | CA422805218 | ASPM | n.3073A>T c.9786A>T (p.Thr3262=) c.10008A>T (p.Thr3336=) c.9762A>T (p.Thr3254=) c.5031A>T (p.Thr1677=) c.2781A>T (p.Thr927=) c.3744A>T (p.Thr1248=) | |
1 | g.197090239T>C | CA422805223 | ASPM | n.3073A>G c.9786A>G (p.Thr3262=) c.10008A>G (p.Thr3336=) c.9762A>G (p.Thr3254=) c.5031A>G (p.Thr1677=) c.2781A>G (p.Thr927=) c.3744A>G (p.Thr1248=) | gnomAD v4 |
1 | g.197090239T>G | CA422805224 | ASPM | n.3073A>C c.9786A>C (p.Thr3262=) c.10008A>C (p.Thr3336=) c.9762A>C (p.Thr3254=) c.5031A>C (p.Thr1677=) c.2781A>C (p.Thr927=) c.3744A>C (p.Thr1248=) | |
1 | g.197090240G>A | CA344001702 | ASPM | n.3072C>T c.9785C>T (p.Thr3262Ile) c.10007C>T (p.Thr3336Ile) c.9761C>T (p.Thr3254Ile) c.5030C>T (p.Thr1677Ile) c.2780C>T (p.Thr927Ile) c.3743C>T (p.Thr1248Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090240G>C | CA344001703 | ASPM | n.3072C>G c.9785C>G (p.Thr3262Arg) c.10007C>G (p.Thr3336Arg) c.9761C>G (p.Thr3254Arg) c.5030C>G (p.Thr1677Arg) c.2780C>G (p.Thr927Arg) c.3743C>G (p.Thr1248Arg) | |
1 | g.197090240G= | CA1217925159 | ASPM | n.3072C= c.9785C= (p.Thr3262=) c.10007C= (p.Thr3336=) c.9761C= (p.Thr3254=) c.5030C= (p.Thr1677=) c.2780C= (p.Thr927=) c.3743C= (p.Thr1248=) | |
1 | g.197090240G>T | CA344001704 | ASPM | n.3072C>A c.9785C>A (p.Thr3262Lys) c.10007C>A (p.Thr3336Lys) c.9761C>A (p.Thr3254Lys) c.5030C>A (p.Thr1677Lys) c.2780C>A (p.Thr927Lys) c.3743C>A (p.Thr1248Lys) | |
1 | g.197090241T>A | CA344001705 | ASPM | n.3071A>T c.9784A>T (p.Thr3262Ser) c.10006A>T (p.Thr3336Ser) c.9760A>T (p.Thr3254Ser) c.5029A>T (p.Thr1677Ser) c.2779A>T (p.Thr927Ser) c.3742A>T (p.Thr1248Ser) | gnomAD v4 |
1 | g.197090241T>C | CA344001706 | ASPM | n.3071A>G c.9784A>G (p.Thr3262Ala) c.10006A>G (p.Thr3336Ala) c.9760A>G (p.Thr3254Ala) c.5029A>G (p.Thr1677Ala) c.2779A>G (p.Thr927Ala) c.3742A>G (p.Thr1248Ala) | |
1 | g.197090241T>G | CA344001707 | ASPM | n.3071A>C c.9784A>C (p.Thr3262Pro) c.10006A>C (p.Thr3336Pro) c.9760A>C (p.Thr3254Pro) c.5029A>C (p.Thr1677Pro) c.2779A>C (p.Thr927Pro) c.3742A>C (p.Thr1248Pro) | |
1 | g.197090242C>A | CA344001708 | ASPM | n.3070G>T c.9783G>T (p.Leu3261Phe) c.10005G>T (p.Leu3335Phe) c.9759G>T (p.Leu3253Phe) c.5028G>T (p.Leu1676Phe) c.2778G>T (p.Leu926Phe) c.3741G>T (p.Leu1247Phe) | |
1 | g.197090242C>G | CA344001709 | ASPM | n.3070G>C c.9783G>C (p.Leu3261Phe) c.10005G>C (p.Leu3335Phe) c.9759G>C (p.Leu3253Phe) c.5028G>C (p.Leu1676Phe) c.2778G>C (p.Leu926Phe) c.3741G>C (p.Leu1247Phe) | gnomAD v4 |
1 | g.197090242C>T | CA422805235 | ASPM | n.3070G>A c.9783G>A (p.Leu3261=) c.10005G>A (p.Leu3335=) c.9759G>A (p.Leu3253=) c.5028G>A (p.Leu1676=) c.2778G>A (p.Leu926=) c.3741G>A (p.Leu1247=) | |
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) |