Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197090228A>CCA344001673ASPMn.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)
1g.197090228A>GCA344001674ASPMn.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)
1g.197090228A>TCA344001675ASPMn.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)
1g.197090229G>ACA344001676ASPMn.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)
1g.197090229G>CCA344001677ASPMn.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)
1g.197090229G=CA1217925149ASPMn.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=)
1g.197090229G>TCA344001678ASPMn.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
1g.197090230G>ACA422805168ASPMn.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=)
1g.197090230G>CCA344001679ASPMn.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
1g.197090230G=CA1217925152ASPMn.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=)
1g.197090230G>TCA344001680ASPMn.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
1g.197090231T>ACA344001681ASPMn.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)
1g.197090231T>CCA344001682ASPMn.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)
1g.197090231T>GCA344001683ASPMn.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)
1g.197090232G>ACA344001684ASPMn.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)
1g.197090232G>CCA344001686ASPMn.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)
1g.197090232G>TCA344001685ASPMn.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)
1g.197090233C>ACA344001687ASPMn.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)
1g.197090233C>GCA344001688ASPMn.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)
1g.197090233C>TCA422805187ASPMn.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
1g.197090234T>ACA344001689ASPMn.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)
1g.197090234T>CCA344001690ASPMn.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)
1g.197090234T>GCA344001691ASPMn.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)
1g.197090235T>ACA344001692ASPMn.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)
1g.197090235T>CCA344001693ASPMn.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
1g.197090235T>GCA344001694ASPMn.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)
1g.197090236A=CA1143355782ASPMn.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=)
1g.197090236A>CCA344001695ASPMn.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
1g.197090236A>GCA35861944ASPMn.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
1g.197090236A>TCA342313ASPMn.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
1g.197090237T>ACA344001696ASPMn.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)
1g.197090237T>CCA344001697ASPMn.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)
1g.197090237T>GCA344001698ASPMn.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)
1g.197090238A>CCA344001699ASPMn.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
1g.197090238A>GCA344001701ASPMn.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
1g.197090238A>TCA344001700ASPMn.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
1g.197090239T>ACA422805218ASPMn.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=)
1g.197090239T>CCA422805223ASPMn.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
1g.197090239T>GCA422805224ASPMn.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=)
1g.197090240G>ACA344001702ASPMn.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
1g.197090240G>CCA344001703ASPMn.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)
1g.197090240G=CA1217925159ASPMn.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=)
1g.197090240G>TCA344001704ASPMn.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)
1g.197090241T>ACA344001705ASPMn.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
1g.197090241T>CCA344001706ASPMn.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)
1g.197090241T>GCA344001707ASPMn.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)
1g.197090242C>ACA344001708ASPMn.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)
1g.197090242C>GCA344001709ASPMn.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
1g.197090242C>TCA422805235ASPMn.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=)
1g.197090243A>CCA344001710ASPMn.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)

Number of alleles fetched