Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197090946_197090947delinsTG | CA2573051449 | ASPM | n.2826_2827delinsCA c.9539_9540delinsCA (p.Gln3180Pro) c.9761_9762delinsCA (p.Gln3254Pro) c.9515_9516delinsCA (p.Gln3172Pro) c.4784_4785delinsCA (p.Gln1595Pro) c.2534_2535delinsCA (p.Gln845Pro) c.3497_3498delinsCA (p.Gln1166Pro) | ClinVar dbSNP |
1 | g.197090947T>A | CA344002869 | ASPM | n.2826A>T c.9539A>T (p.Gln3180Leu) c.9761A>T (p.Gln3254Leu) c.9515A>T (p.Gln3172Leu) c.4784A>T (p.Gln1595Leu) c.2534A>T (p.Gln845Leu) c.3497A>T (p.Gln1166Leu) | |
1 | g.197090947T>C | CA344002874 | ASPM | n.2826A>G c.9539A>G (p.Gln3180Arg) c.9761A>G (p.Gln3254Arg) c.9515A>G (p.Gln3172Arg) c.4784A>G (p.Gln1595Arg) c.2534A>G (p.Gln845Arg) c.3497A>G (p.Gln1166Arg) | |
1 | g.197090947T>G | CA233487 | ASPM | n.2826A>C c.9539A>C (p.Gln3180Pro) c.9761A>C (p.Gln3254Pro) c.9515A>C (p.Gln3172Pro) c.4784A>C (p.Gln1595Pro) c.2534A>C (p.Gln845Pro) c.3497A>C (p.Gln1166Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090947T= | CA1143351619 | ASPM | n.2826A= c.9539A= (p.Gln3180=) c.9761A= (p.Gln3254=) c.9515A= (p.Gln3172=) c.4784A= (p.Gln1595=) c.2534A= (p.Gln845=) c.3497A= (p.Gln1166=) | |
1 | g.197090948G>A | CA344002896 | ASPM | n.2825C>T c.9538C>T (p.Gln3180Ter) c.9760C>T (p.Gln3254Ter) c.9514C>T (p.Gln3172Ter) c.4783C>T (p.Gln1595Ter) c.2533C>T (p.Gln845Ter) c.3496C>T (p.Gln1166Ter) | |
1 | g.197090948G>C | CA344002890 | ASPM | n.2825C>G c.9538C>G (p.Gln3180Glu) c.9760C>G (p.Gln3254Glu) c.9514C>G (p.Gln3172Glu) c.4783C>G (p.Gln1595Glu) c.2533C>G (p.Gln845Glu) c.3496C>G (p.Gln1166Glu) | |
1 | g.197090948G>T | CA344002892 | ASPM | n.2825C>A c.9538C>A (p.Gln3180Lys) c.9760C>A (p.Gln3254Lys) c.9514C>A (p.Gln3172Lys) c.4783C>A (p.Gln1595Lys) c.2533C>A (p.Gln845Lys) c.3496C>A (p.Gln1166Lys) | |
1 | g.197090949G>A | CA422672454 | ASPM | n.2824C>T c.9537C>T (p.Ser3179=) c.9759C>T (p.Ser3253=) c.9513C>T (p.Ser3171=) c.4782C>T (p.Ser1594=) c.2532C>T (p.Ser844=) c.3495C>T (p.Ser1165=) | |
1 | g.197090949G>C | CA344002898 | ASPM | n.2824C>G c.9537C>G (p.Ser3179Arg) c.9759C>G (p.Ser3253Arg) c.9513C>G (p.Ser3171Arg) c.4782C>G (p.Ser1594Arg) c.2532C>G (p.Ser844Arg) c.3495C>G (p.Ser1165Arg) | |
1 | g.197090949G>T | CA344002903 | ASPM | n.2824C>A c.9537C>A (p.Ser3179Arg) c.9759C>A (p.Ser3253Arg) c.9513C>A (p.Ser3171Arg) c.4782C>A (p.Ser1594Arg) c.2532C>A (p.Ser844Arg) c.3495C>A (p.Ser1165Arg) | |
1 | g.197090950C>A | CA344002911 | ASPM | n.2823G>T c.9536G>T (p.Ser3179Ile) c.9758G>T (p.Ser3253Ile) c.9512G>T (p.Ser3171Ile) c.4781G>T (p.Ser1594Ile) c.2531G>T (p.Ser844Ile) c.3494G>T (p.Ser1165Ile) | |
1 | g.197090950C= | CA1217925813 | ASPM | n.2823G= c.9536G= (p.Ser3179=) c.9758G= (p.Ser3253=) c.9512G= (p.Ser3171=) c.4781G= (p.Ser1594=) c.2531G= (p.Ser844=) c.3494G= (p.Ser1165=) | |
1 | g.197090950C>G | CA344002913 | ASPM | n.2823G>C c.9536G>C (p.Ser3179Thr) c.9758G>C (p.Ser3253Thr) c.9512G>C (p.Ser3171Thr) c.4781G>C (p.Ser1594Thr) c.2531G>C (p.Ser844Thr) c.3494G>C (p.Ser1165Thr) | |
1 | g.197090950C>T | CA1308931 | ASPM | n.2823G>A c.9536G>A (p.Ser3179Asn) c.9758G>A (p.Ser3253Asn) c.9512G>A (p.Ser3171Asn) c.4781G>A (p.Ser1594Asn) c.2531G>A (p.Ser844Asn) c.3494G>A (p.Ser1165Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090951T>A | CA344002915 | ASPM | n.2822A>T c.9535A>T (p.Ser3179Cys) c.9757A>T (p.Ser3253Cys) c.9511A>T (p.Ser3171Cys) c.4780A>T (p.Ser1594Cys) c.2530A>T (p.Ser844Cys) c.3493A>T (p.Ser1165Cys) | |
1 | g.197090951T>C | CA344002918 | ASPM | n.2822A>G c.9535A>G (p.Ser3179Gly) c.9757A>G (p.Ser3253Gly) c.9511A>G (p.Ser3171Gly) c.4780A>G (p.Ser1594Gly) c.2530A>G (p.Ser844Gly) c.3493A>G (p.Ser1165Gly) | |
1 | g.197090951T>G | CA344002922 | ASPM | n.2822A>C c.9535A>C (p.Ser3179Arg) c.9757A>C (p.Ser3253Arg) c.9511A>C (p.Ser3171Arg) c.4780A>C (p.Ser1594Arg) c.2530A>C (p.Ser844Arg) c.3493A>C (p.Ser1165Arg) | |
1 | g.197090952C>A | CA422672455 | ASPM | n.2821G>T c.9534G>T (p.Leu3178=) c.9756G>T (p.Leu3252=) c.9510G>T (p.Leu3170=) c.4779G>T (p.Leu1593=) c.2529G>T (p.Leu843=) c.3492G>T (p.Leu1164=) | |
1 | g.197090952C>G | CA422672456 | ASPM | n.2821G>C c.9534G>C (p.Leu3178=) c.9756G>C (p.Leu3252=) c.9510G>C (p.Leu3170=) c.4779G>C (p.Leu1593=) c.2529G>C (p.Leu843=) c.3492G>C (p.Leu1164=) | gnomAD v4 |
1 | g.197090952C>T | CA422672457 | ASPM | n.2821G>A c.9534G>A (p.Leu3178=) c.9756G>A (p.Leu3252=) c.9510G>A (p.Leu3170=) c.4779G>A (p.Leu1593=) c.2529G>A (p.Leu843=) c.3492G>A (p.Leu1164=) | |
1 | g.197090953A>C | CA344002926 | ASPM | n.2820T>G c.9533T>G (p.Leu3178Arg) c.9755T>G (p.Leu3252Arg) c.9509T>G (p.Leu3170Arg) c.4778T>G (p.Leu1593Arg) c.2528T>G (p.Leu843Arg) c.3491T>G (p.Leu1164Arg) | |
1 | g.197090953A>G | CA344002928 | ASPM | n.2820T>C c.9533T>C (p.Leu3178Pro) c.9755T>C (p.Leu3252Pro) c.9509T>C (p.Leu3170Pro) c.4778T>C (p.Leu1593Pro) c.2528T>C (p.Leu843Pro) c.3491T>C (p.Leu1164Pro) | |
1 | g.197090953A>T | CA344002931 | ASPM | n.2820T>A c.9533T>A (p.Leu3178Gln) c.9755T>A (p.Leu3252Gln) c.9509T>A (p.Leu3170Gln) c.4778T>A (p.Leu1593Gln) c.2528T>A (p.Leu843Gln) c.3491T>A (p.Leu1164Gln) | |
1 | g.197090954G>A | CA422672458 | ASPM | n.2819C>T c.9532C>T (p.Leu3178=) c.9754C>T (p.Leu3252=) c.9508C>T (p.Leu3170=) c.4777C>T (p.Leu1593=) c.2527C>T (p.Leu843=) c.3490C>T (p.Leu1164=) | |
1 | g.197090954G>C | CA344002947 | ASPM | n.2819C>G c.9532C>G (p.Leu3178Val) c.9754C>G (p.Leu3252Val) c.9508C>G (p.Leu3170Val) c.4777C>G (p.Leu1593Val) c.2527C>G (p.Leu843Val) c.3490C>G (p.Leu1164Val) | gnomAD v4 |
1 | g.197090954G>T | CA344002934 | ASPM | n.2819C>A c.9532C>A (p.Leu3178Met) c.9754C>A (p.Leu3252Met) c.9508C>A (p.Leu3170Met) c.4777C>A (p.Leu1593Met) c.2527C>A (p.Leu843Met) c.3490C>A (p.Leu1164Met) | |
1 | g.197090955A>C | CA344002952 | ASPM | n.2818T>G c.9531T>G (p.Cys3177Trp) c.9753T>G (p.Cys3251Trp) c.9507T>G (p.Cys3169Trp) c.4776T>G (p.Cys1592Trp) c.2526T>G (p.Cys842Trp) c.3489T>G (p.Cys1163Trp) | |
1 | g.197090955A>G | CA422672459 | ASPM | n.2818T>C c.9531T>C (p.Cys3177=) c.9753T>C (p.Cys3251=) c.9507T>C (p.Cys3169=) c.4776T>C (p.Cys1592=) c.2526T>C (p.Cys842=) c.3489T>C (p.Cys1163=) | |
1 | g.197090955A>T | CA344002955 | ASPM | n.2818T>A c.9531T>A (p.Cys3177Ter) c.9753T>A (p.Cys3251Ter) c.9507T>A (p.Cys3169Ter) c.4776T>A (p.Cys1592Ter) c.2526T>A (p.Cys842Ter) c.3489T>A (p.Cys1163Ter) | |
1 | g.197090956C>A | CA344002962 | ASPM | n.2817G>T c.9530G>T (p.Cys3177Phe) c.9752G>T (p.Cys3251Phe) c.9506G>T (p.Cys3169Phe) c.4775G>T (p.Cys1592Phe) c.2525G>T (p.Cys842Phe) c.3488G>T (p.Cys1163Phe) | |
1 | g.197090956C>G | CA344002965 | ASPM | n.2817G>C c.9530G>C (p.Cys3177Ser) c.9752G>C (p.Cys3251Ser) c.9506G>C (p.Cys3169Ser) c.4775G>C (p.Cys1592Ser) c.2525G>C (p.Cys842Ser) c.3488G>C (p.Cys1163Ser) | |
1 | g.197090956C>T | CA344002968 | ASPM | n.2817G>A c.9530G>A (p.Cys3177Tyr) c.9752G>A (p.Cys3251Tyr) c.9506G>A (p.Cys3169Tyr) c.4775G>A (p.Cys1592Tyr) c.2525G>A (p.Cys842Tyr) c.3488G>A (p.Cys1163Tyr) | |
1 | g.197090957A= | CA1217925817 | ASPM | n.2816T= c.9529T= (p.Cys3177=) c.9751T= (p.Cys3251=) c.9505T= (p.Cys3169=) c.4774T= (p.Cys1592=) c.2524T= (p.Cys842=) c.3487T= (p.Cys1163=) | |
1 | g.197090957A>C | CA344002970 | ASPM | n.2816T>G c.9529T>G (p.Cys3177Gly) c.9751T>G (p.Cys3251Gly) c.9505T>G (p.Cys3169Gly) c.4774T>G (p.Cys1592Gly) c.2524T>G (p.Cys842Gly) c.3487T>G (p.Cys1163Gly) | |
1 | g.197090957A>G | CA344002974 | ASPM | n.2816T>C c.9529T>C (p.Cys3177Arg) c.9751T>C (p.Cys3251Arg) c.9505T>C (p.Cys3169Arg) c.4774T>C (p.Cys1592Arg) c.2524T>C (p.Cys842Arg) c.3487T>C (p.Cys1163Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090957A>T | CA344002977 | ASPM | n.2816T>A c.9529T>A (p.Cys3177Ser) c.9751T>A (p.Cys3251Ser) c.9505T>A (p.Cys3169Ser) c.4774T>A (p.Cys1592Ser) c.2524T>A (p.Cys842Ser) c.3487T>A (p.Cys1163Ser) | |
1 | g.197090958T>A | CA344002981 | ASPM | n.2815A>T c.9528A>T (p.Glu3176Asp) c.9750A>T (p.Glu3250Asp) c.9504A>T (p.Glu3168Asp) c.4773A>T (p.Glu1591Asp) c.2523A>T (p.Glu841Asp) c.3486A>T (p.Glu1162Asp) | |
1 | g.197090958T>C | CA422672460 | ASPM | n.2815A>G c.9528A>G (p.Glu3176=) c.9750A>G (p.Glu3250=) c.9504A>G (p.Glu3168=) c.4773A>G (p.Glu1591=) c.2523A>G (p.Glu841=) c.3486A>G (p.Glu1162=) | gnomAD v4 |
1 | g.197090958T>G | CA344002985 | ASPM | n.2815A>C c.9528A>C (p.Glu3176Asp) c.9750A>C (p.Glu3250Asp) c.9504A>C (p.Glu3168Asp) c.4773A>C (p.Glu1591Asp) c.2523A>C (p.Glu841Asp) c.3486A>C (p.Glu1162Asp) | |
1 | g.197090959T>A | CA344002991 | ASPM | n.2814A>T c.9527A>T (p.Glu3176Val) c.9749A>T (p.Glu3250Val) c.9503A>T (p.Glu3168Val) c.4772A>T (p.Glu1591Val) c.2522A>T (p.Glu841Val) c.3485A>T (p.Glu1162Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090959T>C | CA344002994 | ASPM | n.2814A>G c.9527A>G (p.Glu3176Gly) c.9749A>G (p.Glu3250Gly) c.9503A>G (p.Glu3168Gly) c.4772A>G (p.Glu1591Gly) c.2522A>G (p.Glu841Gly) c.3485A>G (p.Glu1162Gly) | |
1 | g.197090959T>G | CA344003009 | ASPM | n.2814A>C c.9527A>C (p.Glu3176Ala) c.9749A>C (p.Glu3250Ala) c.9503A>C (p.Glu3168Ala) c.4772A>C (p.Glu1591Ala) c.2522A>C (p.Glu841Ala) c.3485A>C (p.Glu1162Ala) | |
1 | g.197090959T= | CA1217925821 | ASPM | n.2814A= c.9527A= (p.Glu3176=) c.9749A= (p.Glu3250=) c.9503A= (p.Glu3168=) c.4772A= (p.Glu1591=) c.2522A= (p.Glu841=) c.3485A= (p.Glu1162=) | |
1 | g.197090960C>A | CA344003017 | ASPM | n.2813G>T c.9526G>T (p.Glu3176Ter) c.9748G>T (p.Glu3250Ter) c.9502G>T (p.Glu3168Ter) c.4771G>T (p.Glu1591Ter) c.2521G>T (p.Glu841Ter) c.3484G>T (p.Glu1162Ter) | |
1 | g.197090960C>G | CA344003015 | ASPM | n.2813G>C c.9526G>C (p.Glu3176Gln) c.9748G>C (p.Glu3250Gln) c.9502G>C (p.Glu3168Gln) c.4771G>C (p.Glu1591Gln) c.2521G>C (p.Glu841Gln) c.3484G>C (p.Glu1162Gln) | COSMIC |
1 | g.197090960C>T | CA344003012 | ASPM | n.2813G>A c.9526G>A (p.Glu3176Lys) c.9748G>A (p.Glu3250Lys) c.9502G>A (p.Glu3168Lys) c.4771G>A (p.Glu1591Lys) c.2521G>A (p.Glu841Lys) c.3484G>A (p.Glu1162Lys) | COSMIC |
1 | g.197090961T>A | CA344003022 | ASPM | n.2812A>T c.9525A>T (p.Gln3175His) c.9747A>T (p.Gln3249His) c.9501A>T (p.Gln3167His) c.4770A>T (p.Gln1590His) c.2520A>T (p.Gln840His) c.3483A>T (p.Gln1161His) | |
1 | g.197090961T>C | CA422672461 | ASPM | n.2812A>G c.9525A>G (p.Gln3175=) c.9747A>G (p.Gln3249=) c.9501A>G (p.Gln3167=) c.4770A>G (p.Gln1590=) c.2520A>G (p.Gln840=) c.3483A>G (p.Gln1161=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090961T>G | CA344003026 | ASPM | n.2812A>C c.9525A>C (p.Gln3175His) c.9747A>C (p.Gln3249His) c.9501A>C (p.Gln3167His) c.4770A>C (p.Gln1590His) c.2520A>C (p.Gln840His) c.3483A>C (p.Gln1161His) | |
1 | g.197090961T= | CA1217925824 | ASPM | n.2812A= c.9525A= (p.Gln3175=) c.9747A= (p.Gln3249=) c.9501A= (p.Gln3167=) c.4770A= (p.Gln1590=) c.2520A= (p.Gln840=) c.3483A= (p.Gln1161=) | |
1 | g.197090962T>A | CA344003027 | ASPM | n.2811A>T c.9524A>T (p.Gln3175Leu) c.9746A>T (p.Gln3249Leu) c.9500A>T (p.Gln3167Leu) c.4769A>T (p.Gln1590Leu) c.2519A>T (p.Gln840Leu) c.3482A>T (p.Gln1161Leu) | gnomAD v4 |
1 | g.197090962T>C | CA344003028 | ASPM | n.2811A>G c.9524A>G (p.Gln3175Arg) c.9746A>G (p.Gln3249Arg) c.9500A>G (p.Gln3167Arg) c.4769A>G (p.Gln1590Arg) c.2519A>G (p.Gln840Arg) c.3482A>G (p.Gln1161Arg) | |
1 | g.197090962T>G | CA344003033 | ASPM | n.2811A>C c.9524A>C (p.Gln3175Pro) c.9746A>C (p.Gln3249Pro) c.9500A>C (p.Gln3167Pro) c.4769A>C (p.Gln1590Pro) c.2519A>C (p.Gln840Pro) c.3482A>C (p.Gln1161Pro) | |
1 | g.197090963G>A | CA344003037 | ASPM | n.2810C>T c.9523C>T (p.Gln3175Ter) c.9745C>T (p.Gln3249Ter) c.9499C>T (p.Gln3167Ter) c.4768C>T (p.Gln1590Ter) c.2518C>T (p.Gln840Ter) c.3481C>T (p.Gln1161Ter) | |
1 | g.197090963G>C | CA344003046 | ASPM | n.2810C>G c.9523C>G (p.Gln3175Glu) c.9745C>G (p.Gln3249Glu) c.9499C>G (p.Gln3167Glu) c.4768C>G (p.Gln1590Glu) c.2518C>G (p.Gln840Glu) c.3481C>G (p.Gln1161Glu) | dbSNP |
1 | g.197090963G= | CA1217925827 | ASPM | n.2810C= c.9523C= (p.Gln3175=) c.9745C= (p.Gln3249=) c.9499C= (p.Gln3167=) c.4768C= (p.Gln1590=) c.2518C= (p.Gln840=) c.3481C= (p.Gln1161=) | |
1 | g.197090963G>T | CA344003049 | ASPM | n.2810C>A c.9523C>A (p.Gln3175Lys) c.9745C>A (p.Gln3249Lys) c.9499C>A (p.Gln3167Lys) c.4768C>A (p.Gln1590Lys) c.2518C>A (p.Gln840Lys) c.3481C>A (p.Gln1161Lys) | |
1 | g.197090964A>C | CA422672462 | ASPM | n.2809T>G c.9522T>G (p.Gly3174=) c.9744T>G (p.Gly3248=) c.9498T>G (p.Gly3166=) c.4767T>G (p.Gly1589=) c.2517T>G (p.Gly839=) c.3480T>G (p.Gly1160=) | |
1 | g.197090964A>G | CA422672464 | ASPM | n.2809T>C c.9522T>C (p.Gly3174=) c.9744T>C (p.Gly3248=) c.9498T>C (p.Gly3166=) c.4767T>C (p.Gly1589=) c.2517T>C (p.Gly839=) c.3480T>C (p.Gly1160=) | gnomAD v4 |
1 | g.197090964A>T | CA422672463 | ASPM | n.2809T>A c.9522T>A (p.Gly3174=) c.9744T>A (p.Gly3248=) c.9498T>A (p.Gly3166=) c.4767T>A (p.Gly1589=) c.2517T>A (p.Gly839=) c.3480T>A (p.Gly1160=) | |
1 | g.197090965C>A | CA344003054 | ASPM | n.2808G>T c.9521G>T (p.Gly3174Val) c.9743G>T (p.Gly3248Val) c.9497G>T (p.Gly3166Val) c.4766G>T (p.Gly1589Val) c.2516G>T (p.Gly839Val) c.3479G>T (p.Gly1160Val) | dbSNP |
1 | g.197090965C= | CA1148349526 | ASPM | n.2808G= c.9521G= (p.Gly3174=) c.9743G= (p.Gly3248=) c.9497G= (p.Gly3166=) c.4766G= (p.Gly1589=) c.2516G= (p.Gly839=) c.3479G= (p.Gly1160=) | |
1 | g.197090965C>G | CA344003057 | ASPM | n.2808G>C c.9521G>C (p.Gly3174Ala) c.9743G>C (p.Gly3248Ala) c.9497G>C (p.Gly3166Ala) c.4766G>C (p.Gly1589Ala) c.2516G>C (p.Gly839Ala) c.3479G>C (p.Gly1160Ala) | |
1 | g.197090965C>T | CA1308932 | ASPM | n.2808G>A c.9521G>A (p.Gly3174Asp) c.9743G>A (p.Gly3248Asp) c.9497G>A (p.Gly3166Asp) c.4766G>A (p.Gly1589Asp) c.2516G>A (p.Gly839Asp) c.3479G>A (p.Gly1160Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090966C>A | CA344003063 | ASPM | n.2807G>T c.9520G>T (p.Gly3174Cys) c.9742G>T (p.Gly3248Cys) c.9496G>T (p.Gly3166Cys) c.4765G>T (p.Gly1589Cys) c.2515G>T (p.Gly839Cys) c.3478G>T (p.Gly1160Cys) | |
1 | g.197090966C= | CA1217925834 | ASPM | n.2807G= c.9520G= (p.Gly3174=) c.9742G= (p.Gly3248=) c.9496G= (p.Gly3166=) c.4765G= (p.Gly1589=) c.2515G= (p.Gly839=) c.3478G= (p.Gly1160=) | |
1 | g.197090966C>G | CA344003065 | ASPM | n.2807G>C c.9520G>C (p.Gly3174Arg) c.9742G>C (p.Gly3248Arg) c.9496G>C (p.Gly3166Arg) c.4765G>C (p.Gly1589Arg) c.2515G>C (p.Gly839Arg) c.3478G>C (p.Gly1160Arg) | |
1 | g.197090966C>T | CA344003068 | ASPM | n.2807G>A c.9520G>A (p.Gly3174Ser) c.9742G>A (p.Gly3248Ser) c.9496G>A (p.Gly3166Ser) c.4765G>A (p.Gly1589Ser) c.2515G>A (p.Gly839Ser) c.3478G>A (p.Gly1160Ser) | dbSNP gnomAD v4 |
1 | g.197090967T>A | CA344003076 | ASPM | n.2806A>T c.9519A>T (p.Glu3173Asp) c.9741A>T (p.Glu3247Asp) c.9495A>T (p.Glu3165Asp) c.4764A>T (p.Glu1588Asp) c.2514A>T (p.Glu838Asp) c.3477A>T (p.Glu1159Asp) | |
1 | g.197090967T>C | CA422672465 | ASPM | n.2806A>G c.9519A>G (p.Glu3173=) c.9741A>G (p.Glu3247=) c.9495A>G (p.Glu3165=) c.4764A>G (p.Glu1588=) c.2514A>G (p.Glu838=) c.3477A>G (p.Glu1159=) | |
1 | g.197090967T>G | CA344003072 | ASPM | n.2806A>C c.9519A>C (p.Glu3173Asp) c.9741A>C (p.Glu3247Asp) c.9495A>C (p.Glu3165Asp) c.4764A>C (p.Glu1588Asp) c.2514A>C (p.Glu838Asp) c.3477A>C (p.Glu1159Asp) | |
1 | g.197090968T>A | CA344003080 | ASPM | n.2805A>T c.9518A>T (p.Glu3173Val) c.9740A>T (p.Glu3247Val) c.9494A>T (p.Glu3165Val) c.4763A>T (p.Glu1588Val) c.2513A>T (p.Glu838Val) c.3476A>T (p.Glu1159Val) | |
1 | g.197090968T>C | CA344003083 | ASPM | n.2805A>G c.9518A>G (p.Glu3173Gly) c.9740A>G (p.Glu3247Gly) c.9494A>G (p.Glu3165Gly) c.4763A>G (p.Glu1588Gly) c.2513A>G (p.Glu838Gly) c.3476A>G (p.Glu1159Gly) | |
1 | g.197090968T>G | CA344003095 | ASPM | n.2805A>C c.9518A>C (p.Glu3173Ala) c.9740A>C (p.Glu3247Ala) c.9494A>C (p.Glu3165Ala) c.4763A>C (p.Glu1588Ala) c.2513A>C (p.Glu838Ala) c.3476A>C (p.Glu1159Ala) | |
1 | g.197090969C>A | CA344003099 | ASPM | n.2804G>T c.9517G>T (p.Glu3173Ter) c.9739G>T (p.Glu3247Ter) c.9493G>T (p.Glu3165Ter) c.4762G>T (p.Glu1588Ter) c.2512G>T (p.Glu838Ter) c.3475G>T (p.Glu1159Ter) | |
1 | g.197090969C>G | CA344003102 | ASPM | n.2804G>C c.9517G>C (p.Glu3173Gln) c.9739G>C (p.Glu3247Gln) c.9493G>C (p.Glu3165Gln) c.4762G>C (p.Glu1588Gln) c.2512G>C (p.Glu838Gln) c.3475G>C (p.Glu1159Gln) | |
1 | g.197090969C>T | CA344003105 | ASPM | n.2804G>A c.9517G>A (p.Glu3173Lys) c.9739G>A (p.Glu3247Lys) c.9493G>A (p.Glu3165Lys) c.4762G>A (p.Glu1588Lys) c.2512G>A (p.Glu838Lys) c.3475G>A (p.Glu1159Lys) | |
1 | g.197090970A>C | CA344003106 | ASPM | n.2803T>G c.9516T>G (p.His3172Gln) c.9738T>G (p.His3246Gln) c.9492T>G (p.His3164Gln) c.4761T>G (p.His1587Gln) c.2511T>G (p.His837Gln) c.3474T>G (p.His1158Gln) | |
1 | g.197090970A>G | CA422672466 | ASPM | n.2803T>C c.9516T>C (p.His3172=) c.9738T>C (p.His3246=) c.9492T>C (p.His3164=) c.4761T>C (p.His1587=) c.2511T>C (p.His837=) c.3474T>C (p.His1158=) | |
1 | g.197090970A>T | CA344003107 | ASPM | n.2803T>A c.9516T>A (p.His3172Gln) c.9738T>A (p.His3246Gln) c.9492T>A (p.His3164Gln) c.4761T>A (p.His1587Gln) c.2511T>A (p.His837Gln) c.3474T>A (p.His1158Gln) | |
1 | g.197090971T>A | CA344003111 | ASPM | n.2802A>T c.9515A>T (p.His3172Leu) c.9737A>T (p.His3246Leu) c.9491A>T (p.His3164Leu) c.4760A>T (p.His1587Leu) c.2510A>T (p.His837Leu) c.3473A>T (p.His1158Leu) | gnomAD v4 |
1 | g.197090971T>C | CA344003113 | ASPM | n.2802A>G c.9515A>G (p.His3172Arg) c.9737A>G (p.His3246Arg) c.9491A>G (p.His3164Arg) c.4760A>G (p.His1587Arg) c.2510A>G (p.His837Arg) c.3473A>G (p.His1158Arg) | gnomAD v4 |
1 | g.197090971T>G | CA344003129 | ASPM | n.2802A>C c.9515A>C (p.His3172Pro) c.9737A>C (p.His3246Pro) c.9491A>C (p.His3164Pro) c.4760A>C (p.His1587Pro) c.2510A>C (p.His837Pro) c.3473A>C (p.His1158Pro) | |
1 | g.197090972G>A | CA344003133 | ASPM | n.2801C>T c.9514C>T (p.His3172Tyr) c.9736C>T (p.His3246Tyr) c.9490C>T (p.His3164Tyr) c.4759C>T (p.His1587Tyr) c.2509C>T (p.His837Tyr) c.3472C>T (p.His1158Tyr) | |
1 | g.197090972G>C | CA344003139 | ASPM | n.2801C>G c.9514C>G (p.His3172Asp) c.9736C>G (p.His3246Asp) c.9490C>G (p.His3164Asp) c.4759C>G (p.His1587Asp) c.2509C>G (p.His837Asp) c.3472C>G (p.His1158Asp) | |
1 | g.197090972G>T | CA344003142 | ASPM | n.2801C>A c.9514C>A (p.His3172Asn) c.9736C>A (p.His3246Asn) c.9490C>A (p.His3164Asn) c.4759C>A (p.His1587Asn) c.2509C>A (p.His837Asn) c.3472C>A (p.His1158Asn) | gnomAD v4 |
1 | g.197090973C>A | CA344003152 | ASPM | n.2800G>T c.9513G>T (p.Glu3171Asp) c.9735G>T (p.Glu3245Asp) c.9489G>T (p.Glu3163Asp) c.4758G>T (p.Glu1586Asp) c.2508G>T (p.Glu836Asp) c.3471G>T (p.Glu1157Asp) | |
1 | g.197090973C= | CA1217925837 | ASPM | n.2800G= c.9513G= (p.Glu3171=) c.9735G= (p.Glu3245=) c.9489G= (p.Glu3163=) c.4758G= (p.Glu1586=) c.2508G= (p.Glu836=) c.3471G= (p.Glu1157=) | |
1 | g.197090973C>G | CA344003154 | ASPM | n.2800G>C c.9513G>C (p.Glu3171Asp) c.9735G>C (p.Glu3245Asp) c.9489G>C (p.Glu3163Asp) c.4758G>C (p.Glu1586Asp) c.2508G>C (p.Glu836Asp) c.3471G>C (p.Glu1157Asp) | |
1 | g.197090973C>T | CA422672467 | ASPM | n.2800G>A c.9513G>A (p.Glu3171=) c.9735G>A (p.Glu3245=) c.9489G>A (p.Glu3163=) c.4758G>A (p.Glu1586=) c.2508G>A (p.Glu836=) c.3471G>A (p.Glu1157=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090974T>A | CA344003157 | ASPM | n.2799A>T c.9512A>T (p.Glu3171Val) c.9734A>T (p.Glu3245Val) c.9488A>T (p.Glu3163Val) c.4757A>T (p.Glu1586Val) c.2507A>T (p.Glu836Val) c.3470A>T (p.Glu1157Val) | |
1 | g.197090974T>C | CA344003166 | ASPM | n.2799A>G c.9512A>G (p.Glu3171Gly) c.9734A>G (p.Glu3245Gly) c.9488A>G (p.Glu3163Gly) c.4757A>G (p.Glu1586Gly) c.2507A>G (p.Glu836Gly) c.3470A>G (p.Glu1157Gly) | |
1 | g.197090974T>G | CA344003161 | ASPM | n.2799A>C c.9512A>C (p.Glu3171Ala) c.9734A>C (p.Glu3245Ala) c.9488A>C (p.Glu3163Ala) c.4757A>C (p.Glu1586Ala) c.2507A>C (p.Glu836Ala) c.3470A>C (p.Glu1157Ala) | gnomAD v4 |
1 | g.197090975C>A | CA344003177 | ASPM | n.2798G>T c.9511G>T (p.Glu3171Ter) c.9733G>T (p.Glu3245Ter) c.9487G>T (p.Glu3163Ter) c.4756G>T (p.Glu1586Ter) c.2506G>T (p.Glu836Ter) c.3469G>T (p.Glu1157Ter) | |
1 | g.197090975C>G | CA344003180 | ASPM | n.2798G>C c.9511G>C (p.Glu3171Gln) c.9733G>C (p.Glu3245Gln) c.9487G>C (p.Glu3163Gln) c.4756G>C (p.Glu1586Gln) c.2506G>C (p.Glu836Gln) c.3469G>C (p.Glu1157Gln) | |
1 | g.197090975C>T | CA344003185 | ASPM | n.2798G>A c.9511G>A (p.Glu3171Lys) c.9733G>A (p.Glu3245Lys) c.9487G>A (p.Glu3163Lys) c.4756G>A (p.Glu1586Lys) c.2506G>A (p.Glu836Lys) c.3469G>A (p.Glu1157Lys) | gnomAD v4 |
1 | g.197090976A>C | CA344003190 | ASPM | n.2797T>G c.9510T>G (p.Ile3170Met) c.9732T>G (p.Ile3244Met) c.9486T>G (p.Ile3162Met) c.4755T>G (p.Ile1585Met) c.2505T>G (p.Ile835Met) c.3468T>G (p.Ile1156Met) | |
1 | g.197090976A>G | CA422672468 | ASPM | n.2797T>C c.9510T>C (p.Ile3170=) c.9732T>C (p.Ile3244=) c.9486T>C (p.Ile3162=) c.4755T>C (p.Ile1585=) c.2505T>C (p.Ile835=) c.3468T>C (p.Ile1156=) | |
1 | g.197090976A>T | CA422672469 | ASPM | n.2797T>A c.9510T>A (p.Ile3170=) c.9732T>A (p.Ile3244=) c.9486T>A (p.Ile3162=) c.4755T>A (p.Ile1585=) c.2505T>A (p.Ile835=) c.3468T>A (p.Ile1156=) | |
1 | g.197090977A>C | CA344003200 | ASPM | n.2796T>G c.9509T>G (p.Ile3170Ser) c.9731T>G (p.Ile3244Ser) c.9485T>G (p.Ile3162Ser) c.4754T>G (p.Ile1585Ser) c.2504T>G (p.Ile835Ser) c.3467T>G (p.Ile1156Ser) | |
1 | g.197090977A>G | CA344003203 | ASPM | n.2796T>C c.9509T>C (p.Ile3170Thr) c.9731T>C (p.Ile3244Thr) c.9485T>C (p.Ile3162Thr) c.4754T>C (p.Ile1585Thr) c.2504T>C (p.Ile835Thr) c.3467T>C (p.Ile1156Thr) | |
1 | g.197090977A>T | CA344003205 | ASPM | n.2796T>A c.9509T>A (p.Ile3170Asn) c.9731T>A (p.Ile3244Asn) c.9485T>A (p.Ile3162Asn) c.4754T>A (p.Ile1585Asn) c.2504T>A (p.Ile835Asn) c.3467T>A (p.Ile1156Asn) | |
1 | g.197090978T>A | CA344003215 | ASPM | n.2795A>T c.9508A>T (p.Ile3170Phe) c.9730A>T (p.Ile3244Phe) c.9484A>T (p.Ile3162Phe) c.4753A>T (p.Ile1585Phe) c.2503A>T (p.Ile835Phe) c.3466A>T (p.Ile1156Phe) | |
1 | g.197090978T>C | CA344003211 | ASPM | n.2795A>G c.9508A>G (p.Ile3170Val) c.9730A>G (p.Ile3244Val) c.9484A>G (p.Ile3162Val) c.4753A>G (p.Ile1585Val) c.2503A>G (p.Ile835Val) c.3466A>G (p.Ile1156Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090978T>G | CA344003212 | ASPM | n.2795A>C c.9508A>C (p.Ile3170Leu) c.9730A>C (p.Ile3244Leu) c.9484A>C (p.Ile3162Leu) c.4753A>C (p.Ile1585Leu) c.2503A>C (p.Ile835Leu) c.3466A>C (p.Ile1156Leu) | |
1 | g.197090978T= | CA1217925840 | ASPM | n.2795A= c.9508A= (p.Ile3170=) c.9730A= (p.Ile3244=) c.9484A= (p.Ile3162=) c.4753A= (p.Ile1585=) c.2503A= (p.Ile835=) c.3466A= (p.Ile1156=) | |
1 | g.197090978_197090979delinsTC | CA1217925839 | ASPM | n.2794_2795delinsGA c.9507_9508delinsGA (p.Lys3169=) c.9729_9730delinsGA (p.Lys3243=) c.9483_9484delinsGA (p.Lys3161=) c.4752_4753delinsGA (p.Lys1584=) c.2502_2503delinsGA (p.Lys834=) c.3465_3466delinsGA (p.Lys1155=) | |
1 | g.197090979del | CA342299 | ASPM | n.2794del c.9507del (p.Ile3170LeufsTer9) c.9729del (p.Ile3244LeufsTer9) c.9483del (p.Ile3162LeufsTer9) c.4752del (p.Ile1585LeufsTer9) c.2502del (p.Ile835LeufsTer9) c.3465del (p.Ile1156LeufsTer9) | ClinVar dbSNP |
1 | g.197090979C>A | CA1308933 | ASPM | n.2794G>T c.9507G>T (p.Lys3169Asn) c.9729G>T (p.Lys3243Asn) c.9483G>T (p.Lys3161Asn) c.4752G>T (p.Lys1584Asn) c.2502G>T (p.Lys834Asn) c.3465G>T (p.Lys1155Asn) | dbSNP ExAC gnomAD v2 |
1 | g.197090979C= | CA1143355791 | ASPM | n.2794G= c.9507G= (p.Lys3169=) c.9729G= (p.Lys3243=) c.9483G= (p.Lys3161=) c.4752G= (p.Lys1584=) c.2502G= (p.Lys834=) c.3465G= (p.Lys1155=) | |
1 | g.197090979C>G | CA344003228 | ASPM | n.2794G>C c.9507G>C (p.Lys3169Asn) c.9729G>C (p.Lys3243Asn) c.9483G>C (p.Lys3161Asn) c.4752G>C (p.Lys1584Asn) c.2502G>C (p.Lys834Asn) c.3465G>C (p.Lys1155Asn) | gnomAD v4 |
1 | g.197090979C>T | CA422672470 | ASPM | n.2794G>A c.9507G>A (p.Lys3169=) c.9729G>A (p.Lys3243=) c.9483G>A (p.Lys3161=) c.4752G>A (p.Lys1584=) c.2502G>A (p.Lys834=) c.3465G>A (p.Lys1155=) | |
1 | g.197090980T>A | CA344003244 | ASPM | n.2793A>T c.9506A>T (p.Lys3169Met) c.9728A>T (p.Lys3243Met) c.9482A>T (p.Lys3161Met) c.4751A>T (p.Lys1584Met) c.2501A>T (p.Lys834Met) c.3464A>T (p.Lys1155Met) | |
1 | g.197090980T>C | CA344003247 | ASPM | n.2793A>G c.9506A>G (p.Lys3169Arg) c.9728A>G (p.Lys3243Arg) c.9482A>G (p.Lys3161Arg) c.4751A>G (p.Lys1584Arg) c.2501A>G (p.Lys834Arg) c.3464A>G (p.Lys1155Arg) | |
1 | g.197090980T>G | CA344003251 | ASPM | n.2793A>C c.9506A>C (p.Lys3169Thr) c.9728A>C (p.Lys3243Thr) c.9482A>C (p.Lys3161Thr) c.4751A>C (p.Lys1584Thr) c.2501A>C (p.Lys834Thr) c.3464A>C (p.Lys1155Thr) | dbSNP gnomAD v4 |
1 | g.197090980T= | CA1217925847 | ASPM | n.2793A= c.9506A= (p.Lys3169=) c.9728A= (p.Lys3243=) c.9482A= (p.Lys3161=) c.4751A= (p.Lys1584=) c.2501A= (p.Lys834=) c.3464A= (p.Lys1155=) | |
1 | g.197090981T>A | CA344003252 | ASPM | n.2792A>T c.9505A>T (p.Lys3169Ter) c.9727A>T (p.Lys3243Ter) c.9481A>T (p.Lys3161Ter) c.4750A>T (p.Lys1584Ter) c.2500A>T (p.Lys834Ter) c.3463A>T (p.Lys1155Ter) | |
1 | g.197090981T>C | CA344003254 | ASPM | n.2792A>G c.9505A>G (p.Lys3169Glu) c.9727A>G (p.Lys3243Glu) c.9481A>G (p.Lys3161Glu) c.4750A>G (p.Lys1584Glu) c.2500A>G (p.Lys834Glu) c.3463A>G (p.Lys1155Glu) | |
1 | g.197090981T>G | CA344003253 | ASPM | n.2792A>C c.9505A>C (p.Lys3169Gln) c.9727A>C (p.Lys3243Gln) c.9481A>C (p.Lys3161Gln) c.4750A>C (p.Lys1584Gln) c.2500A>C (p.Lys834Gln) c.3463A>C (p.Lys1155Gln) | |
1 | g.197090982T>A | CA344003257 | ASPM | n.2791A>T c.9504A>T (p.Lys3168Asn) c.9726A>T (p.Lys3242Asn) c.9480A>T (p.Lys3160Asn) c.4749A>T (p.Lys1583Asn) c.2499A>T (p.Lys833Asn) c.3462A>T (p.Lys1154Asn) | |
1 | g.197090982T>C | CA422672471 | ASPM | n.2791A>G c.9504A>G (p.Lys3168=) c.9726A>G (p.Lys3242=) c.9480A>G (p.Lys3160=) c.4749A>G (p.Lys1583=) c.2499A>G (p.Lys833=) c.3462A>G (p.Lys1154=) | |
1 | g.197090982T>G | CA344003259 | ASPM | n.2791A>C c.9504A>C (p.Lys3168Asn) c.9726A>C (p.Lys3242Asn) c.9480A>C (p.Lys3160Asn) c.4749A>C (p.Lys1583Asn) c.2499A>C (p.Lys833Asn) c.3462A>C (p.Lys1154Asn) | gnomAD v4 |
1 | g.197090983T>A | CA344003264 | ASPM | n.2790A>T c.9503A>T (p.Lys3168Ile) c.9725A>T (p.Lys3242Ile) c.9479A>T (p.Lys3160Ile) c.4748A>T (p.Lys1583Ile) c.2498A>T (p.Lys833Ile) c.3461A>T (p.Lys1154Ile) | |
1 | g.197090983T>C | CA1308934 | ASPM | n.2790A>G c.9503A>G (p.Lys3168Arg) c.9725A>G (p.Lys3242Arg) c.9479A>G (p.Lys3160Arg) c.4748A>G (p.Lys1583Arg) c.2498A>G (p.Lys833Arg) c.3461A>G (p.Lys1154Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090983T>G | CA344003269 | ASPM | n.2790A>C c.9503A>C (p.Lys3168Thr) c.9725A>C (p.Lys3242Thr) c.9479A>C (p.Lys3160Thr) c.4748A>C (p.Lys1583Thr) c.2498A>C (p.Lys833Thr) c.3461A>C (p.Lys1154Thr) | |
1 | g.197090983T= | CA1217925850 | ASPM | n.2790A= c.9503A= (p.Lys3168=) c.9725A= (p.Lys3242=) c.9479A= (p.Lys3160=) c.4748A= (p.Lys1583=) c.2498A= (p.Lys833=) c.3461A= (p.Lys1154=) | |
1 | g.197090984T>A | CA344003274 | ASPM | n.2789A>T c.9502A>T (p.Lys3168Ter) c.9724A>T (p.Lys3242Ter) c.9478A>T (p.Lys3160Ter) c.4747A>T (p.Lys1583Ter) c.2497A>T (p.Lys833Ter) c.3460A>T (p.Lys1154Ter) | |
1 | g.197090984T>C | CA344003277 | ASPM | n.2789A>G c.9502A>G (p.Lys3168Glu) c.9724A>G (p.Lys3242Glu) c.9478A>G (p.Lys3160Glu) c.4747A>G (p.Lys1583Glu) c.2497A>G (p.Lys833Glu) c.3460A>G (p.Lys1154Glu) | |
1 | g.197090984T>G | CA344003279 | ASPM | n.2789A>C c.9502A>C (p.Lys3168Gln) c.9724A>C (p.Lys3242Gln) c.9478A>C (p.Lys3160Gln) c.4747A>C (p.Lys1583Gln) c.2497A>C (p.Lys833Gln) c.3460A>C (p.Lys1154Gln) | |
1 | g.197090985G>A | CA422672472 | ASPM | n.2788C>T c.9501C>T (p.Ile3167=) c.9723C>T (p.Ile3241=) c.9477C>T (p.Ile3159=) c.4746C>T (p.Ile1582=) c.2496C>T (p.Ile832=) c.3459C>T (p.Ile1153=) | |
1 | g.197090985G>C | CA344003283 | ASPM | n.2788C>G c.9501C>G (p.Ile3167Met) c.9723C>G (p.Ile3241Met) c.9477C>G (p.Ile3159Met) c.4746C>G (p.Ile1582Met) c.2496C>G (p.Ile832Met) c.3459C>G (p.Ile1153Met) | |
1 | g.197090985G>T | CA422672473 | ASPM | n.2788C>A c.9501C>A (p.Ile3167=) c.9723C>A (p.Ile3241=) c.9477C>A (p.Ile3159=) c.4746C>A (p.Ile1582=) c.2496C>A (p.Ile832=) c.3459C>A (p.Ile1153=) | gnomAD v4 |
1 | g.197090986A>C | CA344003287 | ASPM | n.2787T>G c.9500T>G (p.Ile3167Ser) c.9722T>G (p.Ile3241Ser) c.9476T>G (p.Ile3159Ser) c.4745T>G (p.Ile1582Ser) c.2495T>G (p.Ile832Ser) c.3458T>G (p.Ile1153Ser) | |
1 | g.197090986A>G | CA344003289 | ASPM | n.2787T>C c.9500T>C (p.Ile3167Thr) c.9722T>C (p.Ile3241Thr) c.9476T>C (p.Ile3159Thr) c.4745T>C (p.Ile1582Thr) c.2495T>C (p.Ile832Thr) c.3458T>C (p.Ile1153Thr) | |
1 | g.197090986A>T | CA344003294 | ASPM | n.2787T>A c.9500T>A (p.Ile3167Asn) c.9722T>A (p.Ile3241Asn) c.9476T>A (p.Ile3159Asn) c.4745T>A (p.Ile1582Asn) c.2495T>A (p.Ile832Asn) c.3458T>A (p.Ile1153Asn) | |
1 | g.197090987T>A | CA344003301 | ASPM | n.2786A>T c.9499A>T (p.Ile3167Phe) c.9721A>T (p.Ile3241Phe) c.9475A>T (p.Ile3159Phe) c.4744A>T (p.Ile1582Phe) c.2494A>T (p.Ile832Phe) c.3457A>T (p.Ile1153Phe) | |
1 | g.197090987T>C | CA344003306 | ASPM | n.2786A>G c.9499A>G (p.Ile3167Val) c.9721A>G (p.Ile3241Val) c.9475A>G (p.Ile3159Val) c.4744A>G (p.Ile1582Val) c.2494A>G (p.Ile832Val) c.3457A>G (p.Ile1153Val) | |
1 | g.197090987T>G | CA344003304 | ASPM | n.2786A>C c.9499A>C (p.Ile3167Leu) c.9721A>C (p.Ile3241Leu) c.9475A>C (p.Ile3159Leu) c.4744A>C (p.Ile1582Leu) c.2494A>C (p.Ile832Leu) c.3457A>C (p.Ile1153Leu) | |
1 | g.197090988G>A | CA422672474 | ASPM | n.2785C>T c.9498C>T (p.Ser3166=) c.9720C>T (p.Ser3240=) c.9474C>T (p.Ser3158=) c.4743C>T (p.Ser1581=) c.2493C>T (p.Ser831=) c.3456C>T (p.Ser1152=) | |
1 | g.197090988G>C | CA344003311 | ASPM | n.2785C>G c.9498C>G (p.Ser3166Arg) c.9720C>G (p.Ser3240Arg) c.9474C>G (p.Ser3158Arg) c.4743C>G (p.Ser1581Arg) c.2493C>G (p.Ser831Arg) c.3456C>G (p.Ser1152Arg) | |
1 | g.197090988G>T | CA344003315 | ASPM | n.2785C>A c.9498C>A (p.Ser3166Arg) c.9720C>A (p.Ser3240Arg) c.9474C>A (p.Ser3158Arg) c.4743C>A (p.Ser1581Arg) c.2493C>A (p.Ser831Arg) c.3456C>A (p.Ser1152Arg) | |
1 | g.197090989C>A | CA344003319 | ASPM | n.2784G>T c.9497G>T (p.Ser3166Ile) c.9719G>T (p.Ser3240Ile) c.9473G>T (p.Ser3158Ile) c.4742G>T (p.Ser1581Ile) c.2492G>T (p.Ser831Ile) c.3455G>T (p.Ser1152Ile) | |
1 | g.197090989C>G | CA344003322 | ASPM | n.2784G>C c.9497G>C (p.Ser3166Thr) c.9719G>C (p.Ser3240Thr) c.9473G>C (p.Ser3158Thr) c.4742G>C (p.Ser1581Thr) c.2492G>C (p.Ser831Thr) c.3455G>C (p.Ser1152Thr) | |
1 | g.197090989C>T | CA344003324 | ASPM | n.2784G>A c.9497G>A (p.Ser3166Asn) c.9719G>A (p.Ser3240Asn) c.9473G>A (p.Ser3158Asn) c.4742G>A (p.Ser1581Asn) c.2492G>A (p.Ser831Asn) c.3455G>A (p.Ser1152Asn) | |
1 | g.197090990T>A | CA344003330 | ASPM | n.2783A>T c.9496A>T (p.Ser3166Cys) c.9718A>T (p.Ser3240Cys) c.9472A>T (p.Ser3158Cys) c.4741A>T (p.Ser1581Cys) c.2491A>T (p.Ser831Cys) c.3454A>T (p.Ser1152Cys) | |
1 | g.197090990T>C | CA344003335 | ASPM | n.2783A>G c.9496A>G (p.Ser3166Gly) c.9718A>G (p.Ser3240Gly) c.9472A>G (p.Ser3158Gly) c.4741A>G (p.Ser1581Gly) c.2491A>G (p.Ser831Gly) c.3454A>G (p.Ser1152Gly) | |
1 | g.197090990T>G | CA344003344 | ASPM | n.2783A>C c.9496A>C (p.Ser3166Arg) c.9718A>C (p.Ser3240Arg) c.9472A>C (p.Ser3158Arg) c.4741A>C (p.Ser1581Arg) c.2491A>C (p.Ser831Arg) c.3454A>C (p.Ser1152Arg) | |
1 | g.197090991A>C | CA344003349 | ASPM | n.2782T>G c.9495T>G (p.His3165Gln) c.9717T>G (p.His3239Gln) c.9471T>G (p.His3157Gln) c.4740T>G (p.His1580Gln) c.2490T>G (p.His830Gln) c.3453T>G (p.His1151Gln) | |
1 | g.197090991A>G | CA422672475 | ASPM | n.2782T>C c.9495T>C (p.His3165=) c.9717T>C (p.His3239=) c.9471T>C (p.His3157=) c.4740T>C (p.His1580=) c.2490T>C (p.His830=) c.3453T>C (p.His1151=) | gnomAD v4 |
1 | g.197090991A>T | CA344003352 | ASPM | n.2782T>A c.9495T>A (p.His3165Gln) c.9717T>A (p.His3239Gln) c.9471T>A (p.His3157Gln) c.4740T>A (p.His1580Gln) c.2490T>A (p.His830Gln) c.3453T>A (p.His1151Gln) | gnomAD v4 |
1 | g.197090993_197090995del | CA2649660859 | ASPM | n.2780_2782del c.9493_9495del (p.His3165del) c.9715_9717del (p.His3239del) c.9469_9471del (p.His3157del) c.4738_4740del (p.His1580del) c.2488_2490del (p.His830del) c.3451_3453del (p.His1151del) | gnomAD v4 |
1 | g.197090992T>A | CA344003353 | ASPM | n.2781A>T c.9494A>T (p.His3165Leu) c.9716A>T (p.His3239Leu) c.9470A>T (p.His3157Leu) c.4739A>T (p.His1580Leu) c.2489A>T (p.His830Leu) c.3452A>T (p.His1151Leu) | gnomAD v4 |
1 | g.197090992T>C | CA1308935 | ASPM | n.2781A>G c.9494A>G (p.His3165Arg) c.9716A>G (p.His3239Arg) c.9470A>G (p.His3157Arg) c.4739A>G (p.His1580Arg) c.2489A>G (p.His830Arg) c.3452A>G (p.His1151Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090992T>G | CA344003358 | ASPM | n.2781A>C c.9494A>C (p.His3165Pro) c.9716A>C (p.His3239Pro) c.9470A>C (p.His3157Pro) c.4739A>C (p.His1580Pro) c.2489A>C (p.His830Pro) c.3452A>C (p.His1151Pro) | |
1 | g.197090992T= | CA1217925853 | ASPM | n.2781A= c.9494A= (p.His3165=) c.9716A= (p.His3239=) c.9470A= (p.His3157=) c.4739A= (p.His1580=) c.2489A= (p.His830=) c.3452A= (p.His1151=) | |
1 | g.197090993G>A | CA344003372 | ASPM | n.2780C>T c.9493C>T (p.His3165Tyr) c.9715C>T (p.His3239Tyr) c.9469C>T (p.His3157Tyr) c.4738C>T (p.His1580Tyr) c.2488C>T (p.His830Tyr) c.3451C>T (p.His1151Tyr) | |
1 | g.197090993G>C | CA344003363 | ASPM | n.2780C>G c.9493C>G (p.His3165Asp) c.9715C>G (p.His3239Asp) c.9469C>G (p.His3157Asp) c.4738C>G (p.His1580Asp) c.2488C>G (p.His830Asp) c.3451C>G (p.His1151Asp) | |
1 | g.197090993G>T | CA344003370 | ASPM | n.2780C>A c.9493C>A (p.His3165Asn) c.9715C>A (p.His3239Asn) c.9469C>A (p.His3157Asn) c.4738C>A (p.His1580Asn) c.2488C>A (p.His830Asn) c.3451C>A (p.His1151Asn) | |
1 | g.197090994A= | CA1141960441 | ASPM | n.2779T= c.9492T= (p.Tyr3164=) c.9714T= (p.Tyr3238=) c.9468T= (p.Tyr3156=) c.4737T= (p.Tyr1579=) c.2487T= (p.Tyr829=) c.3450T= (p.Tyr1150=) | |
1 | g.197090994A>C | CA342297 | ASPM | n.2779T>G c.9492T>G (p.Tyr3164Ter) c.9714T>G (p.Tyr3238Ter) c.9468T>G (p.Tyr3156Ter) c.4737T>G (p.Tyr1579Ter) c.2487T>G (p.Tyr829Ter) c.3450T>G (p.Tyr1150Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.197090994A>G | CA271151 | ASPM | n.2779T>C c.9492T>C (p.Tyr3164=) c.9714T>C (p.Tyr3238=) c.9468T>C (p.Tyr3156=) c.4737T>C (p.Tyr1579=) c.2487T>C (p.Tyr829=) c.3450T>C (p.Tyr1150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090994A>T | CA344003382 | ASPM | n.2779T>A c.9492T>A (p.Tyr3164Ter) c.9714T>A (p.Tyr3238Ter) c.9468T>A (p.Tyr3156Ter) c.4737T>A (p.Tyr1579Ter) c.2487T>A (p.Tyr829Ter) c.3450T>A (p.Tyr1150Ter) | |
1 | g.197090995T>A | CA344003385 | ASPM | n.2778A>T c.9491A>T (p.Tyr3164Phe) c.9713A>T (p.Tyr3238Phe) c.9467A>T (p.Tyr3156Phe) c.4736A>T (p.Tyr1579Phe) c.2486A>T (p.Tyr829Phe) c.3449A>T (p.Tyr1150Phe) | |
1 | g.197090995T>C | CA344003387 | ASPM | n.2778A>G c.9491A>G (p.Tyr3164Cys) c.9713A>G (p.Tyr3238Cys) c.9467A>G (p.Tyr3156Cys) c.4736A>G (p.Tyr1579Cys) c.2486A>G (p.Tyr829Cys) c.3449A>G (p.Tyr1150Cys) | dbSNP gnomAD v4 |
1 | g.197090995T>G | CA344003391 | ASPM | n.2778A>C c.9491A>C (p.Tyr3164Ser) c.9713A>C (p.Tyr3238Ser) c.9467A>C (p.Tyr3156Ser) c.4736A>C (p.Tyr1579Ser) c.2486A>C (p.Tyr829Ser) c.3449A>C (p.Tyr1150Ser) | |
1 | g.197090995T= | CA1217925862 | ASPM | n.2778A= c.9491A= (p.Tyr3164=) c.9713A= (p.Tyr3238=) c.9467A= (p.Tyr3156=) c.4736A= (p.Tyr1579=) c.2486A= (p.Tyr829=) c.3449A= (p.Tyr1150=) | |
1 | g.197090996A>C | CA344003396 | ASPM | n.2777T>G c.9490T>G (p.Tyr3164Asp) c.9712T>G (p.Tyr3238Asp) c.9466T>G (p.Tyr3156Asp) c.4735T>G (p.Tyr1579Asp) c.2485T>G (p.Tyr829Asp) c.3448T>G (p.Tyr1150Asp) | |
1 | g.197090996A>G | CA344003399 | ASPM | n.2777T>C c.9490T>C (p.Tyr3164His) c.9712T>C (p.Tyr3238His) c.9466T>C (p.Tyr3156His) c.4735T>C (p.Tyr1579His) c.2485T>C (p.Tyr829His) c.3448T>C (p.Tyr1150His) | |
1 | g.197090996A>T | CA344003404 | ASPM | n.2777T>A c.9490T>A (p.Tyr3164Asn) c.9712T>A (p.Tyr3238Asn) c.9466T>A (p.Tyr3156Asn) c.4735T>A (p.Tyr1579Asn) c.2485T>A (p.Tyr829Asn) c.3448T>A (p.Tyr1150Asn) | |
1 | g.197090997T>A | CA344003409 | ASPM | n.2776A>T c.9489A>T (p.Lys3163Asn) c.9711A>T (p.Lys3237Asn) c.9465A>T (p.Lys3155Asn) c.4734A>T (p.Lys1578Asn) c.2484A>T (p.Lys828Asn) c.3447A>T (p.Lys1149Asn) | |
1 | g.197090997T>C | CA422672476 | ASPM | n.2776A>G c.9489A>G (p.Lys3163=) c.9711A>G (p.Lys3237=) c.9465A>G (p.Lys3155=) c.4734A>G (p.Lys1578=) c.2484A>G (p.Lys828=) c.3447A>G (p.Lys1149=) | |
1 | g.197090997T>G | CA344003414 | ASPM | n.2776A>C c.9489A>C (p.Lys3163Asn) c.9711A>C (p.Lys3237Asn) c.9465A>C (p.Lys3155Asn) c.4734A>C (p.Lys1578Asn) c.2484A>C (p.Lys828Asn) c.3447A>C (p.Lys1149Asn) | |
1 | g.197090998T>A | CA344003421 | ASPM | n.2775A>T c.9488A>T (p.Lys3163Ile) c.9710A>T (p.Lys3237Ile) c.9464A>T (p.Lys3155Ile) c.4733A>T (p.Lys1578Ile) c.2483A>T (p.Lys828Ile) c.3446A>T (p.Lys1149Ile) | |
1 | g.197090998T>C | CA344003427 | ASPM | n.2775A>G c.9488A>G (p.Lys3163Arg) c.9710A>G (p.Lys3237Arg) c.9464A>G (p.Lys3155Arg) c.4733A>G (p.Lys1578Arg) c.2483A>G (p.Lys828Arg) c.3446A>G (p.Lys1149Arg) | |
1 | g.197090998T>G | CA344003425 | ASPM | n.2775A>C c.9488A>C (p.Lys3163Thr) c.9710A>C (p.Lys3237Thr) c.9464A>C (p.Lys3155Thr) c.4733A>C (p.Lys1578Thr) c.2483A>C (p.Lys828Thr) c.3446A>C (p.Lys1149Thr) | |
1 | g.197090999T>A | CA344003431 | ASPM | n.2774A>T c.9487A>T (p.Lys3163Ter) c.9709A>T (p.Lys3237Ter) c.9463A>T (p.Lys3155Ter) c.4732A>T (p.Lys1578Ter) c.2482A>T (p.Lys828Ter) c.3445A>T (p.Lys1149Ter) | |
1 | g.197090999T>C | CA344003436 | ASPM | n.2774A>G c.9487A>G (p.Lys3163Glu) c.9709A>G (p.Lys3237Glu) c.9463A>G (p.Lys3155Glu) c.4732A>G (p.Lys1578Glu) c.2482A>G (p.Lys828Glu) c.3445A>G (p.Lys1149Glu) | |
1 | g.197090999T>G | CA344003434 | ASPM | n.2774A>C c.9487A>C (p.Lys3163Gln) c.9709A>C (p.Lys3237Gln) c.9463A>C (p.Lys3155Gln) c.4732A>C (p.Lys1578Gln) c.2482A>C (p.Lys828Gln) c.3445A>C (p.Lys1149Gln) | gnomAD v4 |
1 | g.197091000C>A | CA344003438 | ASPM | n.2773G>T c.9486G>T (p.Gln3162His) c.9708G>T (p.Gln3236His) c.9462G>T (p.Gln3154His) c.4731G>T (p.Gln1577His) c.2481G>T (p.Gln827His) c.3444G>T (p.Gln1148His) | |
1 | g.197091000C>G | CA344003445 | ASPM | n.2773G>C c.9486G>C (p.Gln3162His) c.9708G>C (p.Gln3236His) c.9462G>C (p.Gln3154His) c.4731G>C (p.Gln1577His) c.2481G>C (p.Gln827His) c.3444G>C (p.Gln1148His) | |
1 | g.197091000C>T | CA422672477 | ASPM | n.2773G>A c.9486G>A (p.Gln3162=) c.9708G>A (p.Gln3236=) c.9462G>A (p.Gln3154=) c.4731G>A (p.Gln1577=) c.2481G>A (p.Gln827=) c.3444G>A (p.Gln1148=) | |
1 | g.197091001T>A | CA344003452 | ASPM | n.2772A>T c.9485A>T (p.Gln3162Leu) c.9707A>T (p.Gln3236Leu) c.9461A>T (p.Gln3154Leu) c.4730A>T (p.Gln1577Leu) c.2480A>T (p.Gln827Leu) c.3443A>T (p.Gln1148Leu) | |
1 | g.197091001T>C | CA344003454 | ASPM | n.2772A>G c.9485A>G (p.Gln3162Arg) c.9707A>G (p.Gln3236Arg) c.9461A>G (p.Gln3154Arg) c.4730A>G (p.Gln1577Arg) c.2480A>G (p.Gln827Arg) c.3443A>G (p.Gln1148Arg) | gnomAD v4 |
1 | g.197091001T>G | CA344003459 | ASPM | n.2772A>C c.9485A>C (p.Gln3162Pro) c.9707A>C (p.Gln3236Pro) c.9461A>C (p.Gln3154Pro) c.4730A>C (p.Gln1577Pro) c.2480A>C (p.Gln827Pro) c.3443A>C (p.Gln1148Pro) | |
1 | g.197091002G>A | CA344003464 | ASPM | n.2771C>T c.9484C>T (p.Gln3162Ter) c.9706C>T (p.Gln3236Ter) c.9460C>T (p.Gln3154Ter) c.4729C>T (p.Gln1577Ter) c.2479C>T (p.Gln827Ter) c.3442C>T (p.Gln1148Ter) | |
1 | g.197091002G>C | CA344003467 | ASPM | n.2771C>G c.9484C>G (p.Gln3162Glu) c.9706C>G (p.Gln3236Glu) c.9460C>G (p.Gln3154Glu) c.4729C>G (p.Gln1577Glu) c.2479C>G (p.Gln827Glu) c.3442C>G (p.Gln1148Glu) | |
1 | g.197091002G>T | CA344003470 | ASPM | n.2771C>A c.9484C>A (p.Gln3162Lys) c.9706C>A (p.Gln3236Lys) c.9460C>A (p.Gln3154Lys) c.4729C>A (p.Gln1577Lys) c.2479C>A (p.Gln827Lys) c.3442C>A (p.Gln1148Lys) | |
1 | g.197091003A>C | CA344003473 | ASPM | n.2770T>G c.9483T>G (p.Ile3161Met) c.9705T>G (p.Ile3235Met) c.9459T>G (p.Ile3153Met) c.4728T>G (p.Ile1576Met) c.2478T>G (p.Ile826Met) c.3441T>G (p.Ile1147Met) | |
1 | g.197091003A>G | CA422672478 | ASPM | n.2770T>C c.9483T>C (p.Ile3161=) c.9705T>C (p.Ile3235=) c.9459T>C (p.Ile3153=) c.4728T>C (p.Ile1576=) c.2478T>C (p.Ile826=) c.3441T>C (p.Ile1147=) | |
1 | g.197091003A>T | CA422672479 | ASPM | n.2770T>A c.9483T>A (p.Ile3161=) c.9705T>A (p.Ile3235=) c.9459T>A (p.Ile3153=) c.4728T>A (p.Ile1576=) c.2478T>A (p.Ile826=) c.3441T>A (p.Ile1147=) | |
1 | g.197091004A= | CA1217925864 | ASPM | n.2769T= c.9482T= (p.Ile3161=) c.9704T= (p.Ile3235=) c.9458T= (p.Ile3153=) c.4727T= (p.Ile1576=) c.2477T= (p.Ile826=) c.3440T= (p.Ile1147=) | |
1 | g.197091004A>C | CA344003477 | ASPM | n.2769T>G c.9482T>G (p.Ile3161Ser) c.9704T>G (p.Ile3235Ser) c.9458T>G (p.Ile3153Ser) c.4727T>G (p.Ile1576Ser) c.2477T>G (p.Ile826Ser) c.3440T>G (p.Ile1147Ser) | |
1 | g.197091004A>G | CA344003480 | ASPM | n.2769T>C c.9482T>C (p.Ile3161Thr) c.9704T>C (p.Ile3235Thr) c.9458T>C (p.Ile3153Thr) c.4727T>C (p.Ile1576Thr) c.2477T>C (p.Ile826Thr) c.3440T>C (p.Ile1147Thr) | gnomAD v4 |
1 | g.197091004A>T | CA1308936 | ASPM | n.2769T>A c.9482T>A (p.Ile3161Asn) c.9704T>A (p.Ile3235Asn) c.9458T>A (p.Ile3153Asn) c.4727T>A (p.Ile1576Asn) c.2477T>A (p.Ile826Asn) c.3440T>A (p.Ile1147Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197091005T>A | CA344003489 | ASPM | n.2768A>T c.9481A>T (p.Ile3161Phe) c.9703A>T (p.Ile3235Phe) c.9457A>T (p.Ile3153Phe) c.4726A>T (p.Ile1576Phe) c.2476A>T (p.Ile826Phe) c.3439A>T (p.Ile1147Phe) | |
1 | g.197091005T>C | CA344003485 | ASPM | n.2768A>G c.9481A>G (p.Ile3161Val) c.9703A>G (p.Ile3235Val) c.9457A>G (p.Ile3153Val) c.4726A>G (p.Ile1576Val) c.2476A>G (p.Ile826Val) c.3439A>G (p.Ile1147Val) | |
1 | g.197091005T>G | CA344003486 | ASPM | n.2768A>C c.9481A>C (p.Ile3161Leu) c.9703A>C (p.Ile3235Leu) c.9457A>C (p.Ile3153Leu) c.4726A>C (p.Ile1576Leu) c.2476A>C (p.Ile826Leu) c.3439A>C (p.Ile1147Leu) | |
1 | g.197091006A= | CA1143875439 | ASPM | n.2767T= c.9480T= (p.Phe3160=) c.9702T= (p.Phe3234=) c.9456T= (p.Phe3152=) c.4725T= (p.Phe1575=) c.2475T= (p.Phe825=) c.3438T= (p.Phe1146=) | |
1 | g.197091006A>C | CA1308937 | ASPM | n.2767T>G c.9480T>G (p.Phe3160Leu) c.9702T>G (p.Phe3234Leu) c.9456T>G (p.Phe3152Leu) c.4725T>G (p.Phe1575Leu) c.2475T>G (p.Phe825Leu) c.3438T>G (p.Phe1146Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197091006A>G | CA422672480 | ASPM | n.2767T>C c.9480T>C (p.Phe3160=) c.9702T>C (p.Phe3234=) c.9456T>C (p.Phe3152=) c.4725T>C (p.Phe1575=) c.2475T>C (p.Phe825=) c.3438T>C (p.Phe1146=) | |
1 | g.197091006A>T | CA35862260 | ASPM | n.2767T>A c.9480T>A (p.Phe3160Leu) c.9702T>A (p.Phe3234Leu) c.9456T>A (p.Phe3152Leu) c.4725T>A (p.Phe1575Leu) c.2475T>A (p.Phe825Leu) c.3438T>A (p.Phe1146Leu) | dbSNP gnomAD v4 |
1 | g.197091007A>C | CA344003501 | ASPM | n.2766T>G c.9479T>G (p.Phe3160Cys) c.9701T>G (p.Phe3234Cys) c.9455T>G (p.Phe3152Cys) c.4724T>G (p.Phe1575Cys) c.2474T>G (p.Phe825Cys) c.3437T>G (p.Phe1146Cys) | |
1 | g.197091007A>G | CA344003502 | ASPM | n.2766T>C c.9479T>C (p.Phe3160Ser) c.9701T>C (p.Phe3234Ser) c.9455T>C (p.Phe3152Ser) c.4724T>C (p.Phe1575Ser) c.2474T>C (p.Phe825Ser) c.3437T>C (p.Phe1146Ser) | |
1 | g.197091007A>T | CA344003507 | ASPM | n.2766T>A c.9479T>A (p.Phe3160Tyr) c.9701T>A (p.Phe3234Tyr) c.9455T>A (p.Phe3152Tyr) c.4724T>A (p.Phe1575Tyr) c.2474T>A (p.Phe825Tyr) c.3437T>A (p.Phe1146Tyr) | |
1 | g.197091008A>C | CA344003526 | ASPM | n.2765T>G c.9478T>G (p.Phe3160Val) c.9700T>G (p.Phe3234Val) c.9454T>G (p.Phe3152Val) c.4723T>G (p.Phe1575Val) c.2473T>G (p.Phe825Val) c.3436T>G (p.Phe1146Val) | |
1 | g.197091008A>G | CA344003530 | ASPM | n.2765T>C c.9478T>C (p.Phe3160Leu) c.9700T>C (p.Phe3234Leu) c.9454T>C (p.Phe3152Leu) c.4723T>C (p.Phe1575Leu) c.2473T>C (p.Phe825Leu) c.3436T>C (p.Phe1146Leu) | |
1 | g.197091008A>T | CA344003542 | ASPM | n.2765T>A c.9478T>A (p.Phe3160Ile) c.9700T>A (p.Phe3234Ile) c.9454T>A (p.Phe3152Ile) c.4723T>A (p.Phe1575Ile) c.2473T>A (p.Phe825Ile) c.3436T>A (p.Phe1146Ile) | |
1 | g.197091009T>A | CA344003546 | ASPM | n.2764A>T c.9477A>T (p.Arg3159Ser) c.9699A>T (p.Arg3233Ser) c.9453A>T (p.Arg3151Ser) c.4722A>T (p.Arg1574Ser) c.2472A>T (p.Arg824Ser) c.3435A>T (p.Arg1145Ser) | |
1 | g.197091009T>C | CA422672481 | ASPM | n.2764A>G c.9477A>G (p.Arg3159=) c.9699A>G (p.Arg3233=) c.9453A>G (p.Arg3151=) c.4722A>G (p.Arg1574=) c.2472A>G (p.Arg824=) c.3435A>G (p.Arg1145=) | |
1 | g.197091009T>G | CA344003549 | ASPM | n.2764A>C c.9477A>C (p.Arg3159Ser) c.9699A>C (p.Arg3233Ser) c.9453A>C (p.Arg3151Ser) c.4722A>C (p.Arg1574Ser) c.2472A>C (p.Arg824Ser) c.3435A>C (p.Arg1145Ser) | |
1 | g.197091010C>A | CA344003564 | ASPM | n.2763G>T c.9476G>T (p.Arg3159Ile) c.9698G>T (p.Arg3233Ile) c.9452G>T (p.Arg3151Ile) c.4721G>T (p.Arg1574Ile) c.2471G>T (p.Arg824Ile) c.3434G>T (p.Arg1145Ile) | |
1 | g.197091010C>G | CA344003563 | ASPM | n.2763G>C c.9476G>C (p.Arg3159Thr) c.9698G>C (p.Arg3233Thr) c.9452G>C (p.Arg3151Thr) c.4721G>C (p.Arg1574Thr) c.2471G>C (p.Arg824Thr) c.3434G>C (p.Arg1145Thr) | |
1 | g.197091010C>T | CA344003562 | ASPM | n.2763G>A c.9476G>A (p.Arg3159Lys) c.9698G>A (p.Arg3233Lys) c.9452G>A (p.Arg3151Lys) c.4721G>A (p.Arg1574Lys) c.2471G>A (p.Arg824Lys) c.3434G>A (p.Arg1145Lys) | COSMIC |
1 | g.197091011T>A | CA344003569 | ASPM | n.2762A>T c.9475A>T (p.Arg3159Ter) c.9697A>T (p.Arg3233Ter) c.9451A>T (p.Arg3151Ter) c.4720A>T (p.Arg1574Ter) c.2470A>T (p.Arg824Ter) c.3433A>T (p.Arg1145Ter) | |
1 | g.197091011T>C | CA344003570 | ASPM | n.2762A>G c.9475A>G (p.Arg3159Gly) c.9697A>G (p.Arg3233Gly) c.9451A>G (p.Arg3151Gly) c.4720A>G (p.Arg1574Gly) c.2470A>G (p.Arg824Gly) c.3433A>G (p.Arg1145Gly) | |
1 | g.197091011T>G | CA422672482 | ASPM | n.2762A>C c.9475A>C (p.Arg3159=) c.9697A>C (p.Arg3233=) c.9451A>C (p.Arg3151=) c.4720A>C (p.Arg1574=) c.2470A>C (p.Arg824=) c.3433A>C (p.Arg1145=) | |
1 | g.197091012C>A | CA344003574 | ASPM | n.2761G>T c.9474G>T (p.Lys3158Asn) c.9696G>T (p.Lys3232Asn) c.9450G>T (p.Lys3150Asn) c.4719G>T (p.Lys1573Asn) c.2469G>T (p.Lys823Asn) c.3432G>T (p.Lys1144Asn) | COSMIC |
1 | g.197091012C>G | CA344003579 | ASPM | n.2761G>C c.9474G>C (p.Lys3158Asn) c.9696G>C (p.Lys3232Asn) c.9450G>C (p.Lys3150Asn) c.4719G>C (p.Lys1573Asn) c.2469G>C (p.Lys823Asn) c.3432G>C (p.Lys1144Asn) | |
1 | g.197091012C>T | CA422672483 | ASPM | n.2761G>A c.9474G>A (p.Lys3158=) c.9696G>A (p.Lys3232=) c.9450G>A (p.Lys3150=) c.4719G>A (p.Lys1573=) c.2469G>A (p.Lys823=) c.3432G>A (p.Lys1144=) | |
1 | g.197091013T>A | CA344003589 | ASPM | n.2760A>T c.9473A>T (p.Lys3158Met) c.9695A>T (p.Lys3232Met) c.9449A>T (p.Lys3150Met) c.4718A>T (p.Lys1573Met) c.2468A>T (p.Lys823Met) c.3431A>T (p.Lys1144Met) | |
1 | g.197091013T>C | CA344003593 | ASPM | n.2760A>G c.9473A>G (p.Lys3158Arg) c.9695A>G (p.Lys3232Arg) c.9449A>G (p.Lys3150Arg) c.4718A>G (p.Lys1573Arg) c.2468A>G (p.Lys823Arg) c.3431A>G (p.Lys1144Arg) | |
1 | g.197091013T>G | CA344003595 | ASPM | n.2760A>C c.9473A>C (p.Lys3158Thr) c.9695A>C (p.Lys3232Thr) c.9449A>C (p.Lys3150Thr) c.4718A>C (p.Lys1573Thr) c.2468A>C (p.Lys823Thr) c.3431A>C (p.Lys1144Thr) | |
1 | g.197091014T>A | CA344003601 | ASPM | n.2759A>T c.9472A>T (p.Lys3158Ter) c.9694A>T (p.Lys3232Ter) c.9448A>T (p.Lys3150Ter) c.4717A>T (p.Lys1573Ter) c.2467A>T (p.Lys823Ter) c.3430A>T (p.Lys1144Ter) | |
1 | g.197091014T>C | CA344003603 | ASPM | n.2759A>G c.9472A>G (p.Lys3158Glu) c.9694A>G (p.Lys3232Glu) c.9448A>G (p.Lys3150Glu) c.4717A>G (p.Lys1573Glu) c.2467A>G (p.Lys823Glu) c.3430A>G (p.Lys1144Glu) | |
1 | g.197091014T>G | CA344003606 | ASPM | n.2759A>C c.9472A>C (p.Lys3158Gln) c.9694A>C (p.Lys3232Gln) c.9448A>C (p.Lys3150Gln) c.4717A>C (p.Lys1573Gln) c.2467A>C (p.Lys823Gln) c.3430A>C (p.Lys1144Gln) | |
1 | g.197091015T>A | CA344003610 | ASPM | n.2758A>T c.9471A>T (p.Glu3157Asp) c.9693A>T (p.Glu3231Asp) c.9447A>T (p.Glu3149Asp) c.4716A>T (p.Glu1572Asp) c.2466A>T (p.Glu822Asp) c.3429A>T (p.Glu1143Asp) | |
1 | g.197091015T>C | CA1308938 | ASPM | n.2758A>G c.9471A>G (p.Glu3157=) c.9693A>G (p.Glu3231=) c.9447A>G (p.Glu3149=) c.4716A>G (p.Glu1572=) c.2466A>G (p.Glu822=) c.3429A>G (p.Glu1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197091015T>G | CA344003616 | ASPM | n.2758A>C c.9471A>C (p.Glu3157Asp) c.9693A>C (p.Glu3231Asp) c.9447A>C (p.Glu3149Asp) c.4716A>C (p.Glu1572Asp) c.2466A>C (p.Glu822Asp) c.3429A>C (p.Glu1143Asp) | |
1 | g.197091015T= | CA1217925872 | ASPM | n.2758A= c.9471A= (p.Glu3157=) c.9693A= (p.Glu3231=) c.9447A= (p.Glu3149=) c.4716A= (p.Glu1572=) c.2466A= (p.Glu822=) c.3429A= (p.Glu1143=) | |
1 | g.197091016T>A | CA344003620 | ASPM | n.2757A>T c.9470A>T (p.Glu3157Val) c.9692A>T (p.Glu3231Val) c.9446A>T (p.Glu3149Val) c.4715A>T (p.Glu1572Val) c.2465A>T (p.Glu822Val) c.3428A>T (p.Glu1143Val) | |
1 | g.197091016T>C | CA344003622 | ASPM | n.2757A>G c.9470A>G (p.Glu3157Gly) c.9692A>G (p.Glu3231Gly) c.9446A>G (p.Glu3149Gly) c.4715A>G (p.Glu1572Gly) c.2465A>G (p.Glu822Gly) c.3428A>G (p.Glu1143Gly) | |
1 | g.197091016T>G | CA344003621 | ASPM | n.2757A>C c.9470A>C (p.Glu3157Ala) c.9692A>C (p.Glu3231Ala) c.9446A>C (p.Glu3149Ala) c.4715A>C (p.Glu1572Ala) c.2465A>C (p.Glu822Ala) c.3428A>C (p.Glu1143Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197091016T= | CA1217925877 | ASPM | n.2757A= c.9470A= (p.Glu3157=) c.9692A= (p.Glu3231=) c.9446A= (p.Glu3149=) c.4715A= (p.Glu1572=) c.2465A= (p.Glu822=) c.3428A= (p.Glu1143=) | |
1 | g.197091017C>A | CA344003624 | ASPM | n.2756G>T c.9469G>T (p.Glu3157Ter) c.9691G>T (p.Glu3231Ter) c.9445G>T (p.Glu3149Ter) c.4714G>T (p.Glu1572Ter) c.2464G>T (p.Glu822Ter) c.3427G>T (p.Glu1143Ter) | |
1 | g.197091017C>G | CA344003634 | ASPM | n.2756G>C c.9469G>C (p.Glu3157Gln) c.9691G>C (p.Glu3231Gln) c.9445G>C (p.Glu3149Gln) c.4714G>C (p.Glu1572Gln) c.2464G>C (p.Glu822Gln) c.3427G>C (p.Glu1143Gln) | |
1 | g.197091017C>T | CA344003637 | ASPM | n.2756G>A c.9469G>A (p.Glu3157Lys) c.9691G>A (p.Glu3231Lys) c.9445G>A (p.Glu3149Lys) c.4714G>A (p.Glu1572Lys) c.2464G>A (p.Glu822Lys) c.3427G>A (p.Glu1143Lys) | |
1 | g.197091018T>A | CA344003640 | ASPM | n.2755A>T c.9468A>T (p.Gln3156His) c.9690A>T (p.Gln3230His) c.9444A>T (p.Gln3148His) c.4713A>T (p.Gln1571His) c.2463A>T (p.Gln821His) c.3426A>T (p.Gln1142His) | |
1 | g.197091018T>C | CA422672484 | ASPM | n.2755A>G c.9468A>G (p.Gln3156=) c.9690A>G (p.Gln3230=) c.9444A>G (p.Gln3148=) c.4713A>G (p.Gln1571=) c.2463A>G (p.Gln821=) c.3426A>G (p.Gln1142=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197091018T>G | CA344003642 | ASPM | n.2755A>C c.9468A>C (p.Gln3156His) c.9690A>C (p.Gln3230His) c.9444A>C (p.Gln3148His) c.4713A>C (p.Gln1571His) c.2463A>C (p.Gln821His) c.3426A>C (p.Gln1142His) | |
1 | g.197091018T= | CA1217925880 | ASPM | n.2755A= c.9468A= (p.Gln3156=) c.9690A= (p.Gln3230=) c.9444A= (p.Gln3148=) c.4713A= (p.Gln1571=) c.2463A= (p.Gln821=) c.3426A= (p.Gln1142=) | |
1 | g.197091019T>A | CA344003644 | ASPM | n.2754A>T c.9467A>T (p.Gln3156Leu) c.9689A>T (p.Gln3230Leu) c.9443A>T (p.Gln3148Leu) c.4712A>T (p.Gln1571Leu) c.2462A>T (p.Gln821Leu) c.3425A>T (p.Gln1142Leu) | |
1 | g.197091019T>C | CA344003647 | ASPM | n.2754A>G c.9467A>G (p.Gln3156Arg) c.9689A>G (p.Gln3230Arg) c.9443A>G (p.Gln3148Arg) c.4712A>G (p.Gln1571Arg) c.2462A>G (p.Gln821Arg) c.3425A>G (p.Gln1142Arg) | |
1 | g.197091019T>G | CA344003650 | ASPM | n.2754A>C c.9467A>C (p.Gln3156Pro) c.9689A>C (p.Gln3230Pro) c.9443A>C (p.Gln3148Pro) c.4712A>C (p.Gln1571Pro) c.2462A>C (p.Gln821Pro) c.3425A>C (p.Gln1142Pro) | |
1 | g.197091020G>A | CA344003652 | ASPM | n.2753C>T c.9466C>T (p.Gln3156Ter) c.9688C>T (p.Gln3230Ter) c.9442C>T (p.Gln3148Ter) c.4711C>T (p.Gln1571Ter) c.2461C>T (p.Gln821Ter) c.3424C>T (p.Gln1142Ter) | |
1 | g.197091020G>C | CA344003653 | ASPM | n.2753C>G c.9466C>G (p.Gln3156Glu) c.9688C>G (p.Gln3230Glu) c.9442C>G (p.Gln3148Glu) c.4711C>G (p.Gln1571Glu) c.2461C>G (p.Gln821Glu) c.3424C>G (p.Gln1142Glu) | |
1 | g.197091020G>T | CA344003655 | ASPM | n.2753C>A c.9466C>A (p.Gln3156Lys) c.9688C>A (p.Gln3230Lys) c.9442C>A (p.Gln3148Lys) c.4711C>A (p.Gln1571Lys) c.2461C>A (p.Gln821Lys) c.3424C>A (p.Gln1142Lys) | |
1 | g.197091021T>A | CA344003658 | ASPM | n.2752A>T c.9465A>T (p.Leu3155Phe) c.9687A>T (p.Leu3229Phe) c.9441A>T (p.Leu3147Phe) c.4710A>T (p.Leu1570Phe) c.2460A>T (p.Leu820Phe) c.3423A>T (p.Leu1141Phe) | |
1 | g.197091021T>C | CA422672485 | ASPM | n.2752A>G c.9465A>G (p.Leu3155=) c.9687A>G (p.Leu3229=) c.9441A>G (p.Leu3147=) c.4710A>G (p.Leu1570=) c.2460A>G (p.Leu820=) c.3423A>G (p.Leu1141=) | gnomAD v4 |
1 | g.197091021T>G | CA344003657 | ASPM | n.2752A>C c.9465A>C (p.Leu3155Phe) c.9687A>C (p.Leu3229Phe) c.9441A>C (p.Leu3147Phe) c.4710A>C (p.Leu1570Phe) c.2460A>C (p.Leu820Phe) c.3423A>C (p.Leu1141Phe) | |
1 | g.197091022A= | CA1217925882 | ASPM | n.2751T= c.9464T= (p.Leu3155=) c.9686T= (p.Leu3229=) c.9440T= (p.Leu3147=) c.4709T= (p.Leu1570=) c.2459T= (p.Leu820=) c.3422T= (p.Leu1141=) | |
1 | g.197091022A>C | CA344003661 | ASPM | n.2751T>G c.9464T>G (p.Leu3155Ter) c.9686T>G (p.Leu3229Ter) c.9440T>G (p.Leu3147Ter) c.4709T>G (p.Leu1570Ter) c.2459T>G (p.Leu820Ter) c.3422T>G (p.Leu1141Ter) | |
1 | g.197091022A>G | CA1308939 | ASPM | n.2751T>C c.9464T>C (p.Leu3155Ser) c.9686T>C (p.Leu3229Ser) c.9440T>C (p.Leu3147Ser) c.4709T>C (p.Leu1570Ser) c.2459T>C (p.Leu820Ser) c.3422T>C (p.Leu1141Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197091022A>T | CA344003665 | ASPM | n.2751T>A c.9464T>A (p.Leu3155Ter) c.9686T>A (p.Leu3229Ter) c.9440T>A (p.Leu3147Ter) c.4709T>A (p.Leu1570Ter) c.2459T>A (p.Leu820Ter) c.3422T>A (p.Leu1141Ter) | |
1 | g.197091023A= | CA1143757814 | ASPM | n.2750T= c.9463T= (p.Leu3155=) c.9685T= (p.Leu3229=) c.9439T= (p.Leu3147=) c.4708T= (p.Leu1570=) c.2458T= (p.Leu820=) c.3421T= (p.Leu1141=) | |
1 | g.197091023A>C | CA1308940 | ASPM | n.2750T>G c.9463T>G (p.Leu3155Val) c.9685T>G (p.Leu3229Val) c.9439T>G (p.Leu3147Val) c.4708T>G (p.Leu1570Val) c.2458T>G (p.Leu820Val) c.3421T>G (p.Leu1141Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197091023A>G | CA422672486 | ASPM | n.2750T>C c.9463T>C (p.Leu3155=) c.9685T>C (p.Leu3229=) c.9439T>C (p.Leu3147=) c.4708T>C (p.Leu1570=) c.2458T>C (p.Leu820=) c.3421T>C (p.Leu1141=) | |
1 | g.197091023A>T | CA344003673 | ASPM | n.2750T>A c.9463T>A (p.Leu3155Ile) c.9685T>A (p.Leu3229Ile) c.9439T>A (p.Leu3147Ile) c.4708T>A (p.Leu1570Ile) c.2458T>A (p.Leu820Ile) c.3421T>A (p.Leu1141Ile) | |
1 | g.197091024T>A | CA344003677 | ASPM | n.2749A>T c.9462A>T (p.Arg3154Ser) c.9684A>T (p.Arg3228Ser) c.9438A>T (p.Arg3146Ser) c.4707A>T (p.Arg1569Ser) c.2457A>T (p.Arg819Ser) c.3420A>T (p.Arg1140Ser) | |
1 | g.197091024T>C | CA422672487 | ASPM | n.2749A>G c.9462A>G (p.Arg3154=) c.9684A>G (p.Arg3228=) c.9438A>G (p.Arg3146=) c.4707A>G (p.Arg1569=) c.2457A>G (p.Arg819=) c.3420A>G (p.Arg1140=) | |
1 | g.197091024T>G | CA344003689 | ASPM | n.2749A>C c.9462A>C (p.Arg3154Ser) c.9684A>C (p.Arg3228Ser) c.9438A>C (p.Arg3146Ser) c.4707A>C (p.Arg1569Ser) c.2457A>C (p.Arg819Ser) c.3420A>C (p.Arg1140Ser) | gnomAD v4 |
1 | g.197091025C>A | CA344003693 | ASPM | n.2748G>T c.9461G>T (p.Arg3154Ile) c.9683G>T (p.Arg3228Ile) c.9437G>T (p.Arg3146Ile) c.4706G>T (p.Arg1569Ile) c.2456G>T (p.Arg819Ile) c.3419G>T (p.Arg1140Ile) | COSMIC |
1 | g.197091025C= | CA1217925888 | ASPM | n.2748G= c.9461G= (p.Arg3154=) c.9683G= (p.Arg3228=) c.9437G= (p.Arg3146=) c.4706G= (p.Arg1569=) c.2456G= (p.Arg819=) c.3419G= (p.Arg1140=) | |
1 | g.197091025C>G | CA344003694 | ASPM | n.2748G>C c.9461G>C (p.Arg3154Thr) c.9683G>C (p.Arg3228Thr) c.9437G>C (p.Arg3146Thr) c.4706G>C (p.Arg1569Thr) c.2456G>C (p.Arg819Thr) c.3419G>C (p.Arg1140Thr) | |
1 | g.197091025C>T | CA344003695 | ASPM | n.2748G>A c.9461G>A (p.Arg3154Lys) c.9683G>A (p.Arg3228Lys) c.9437G>A (p.Arg3146Lys) c.4706G>A (p.Arg1569Lys) c.2456G>A (p.Arg819Lys) c.3419G>A (p.Arg1140Lys) | dbSNP |
1 | g.197091026T>A | CA344003698 | ASPM | n.2747A>T c.9460A>T (p.Arg3154Ter) c.9682A>T (p.Arg3228Ter) c.9436A>T (p.Arg3146Ter) c.4705A>T (p.Arg1569Ter) c.2455A>T (p.Arg819Ter) c.3418A>T (p.Arg1140Ter) | |
1 | g.197091026T>C | CA344003701 | ASPM | n.2747A>G c.9460A>G (p.Arg3154Gly) c.9682A>G (p.Arg3228Gly) c.9436A>G (p.Arg3146Gly) c.4705A>G (p.Arg1569Gly) c.2455A>G (p.Arg819Gly) c.3418A>G (p.Arg1140Gly) | dbSNP gnomAD v4 |
1 | g.197091026T>G | CA422672488 | ASPM | n.2747A>C c.9460A>C (p.Arg3154=) c.9682A>C (p.Arg3228=) c.9436A>C (p.Arg3146=) c.4705A>C (p.Arg1569=) c.2455A>C (p.Arg819=) c.3418A>C (p.Arg1140=) | |
1 | g.197091026T= | CA1217925890 | ASPM | n.2747A= c.9460A= (p.Arg3154=) c.9682A= (p.Arg3228=) c.9436A= (p.Arg3146=) c.4705A= (p.Arg1569=) c.2455A= (p.Arg819=) c.3418A= (p.Arg1140=) | |
1 | g.197091027T>A | CA422672489 | ASPM | n.2746A>T c.9459A>T (p.Ala3153=) c.9681A>T (p.Ala3227=) c.9435A>T (p.Ala3145=) c.4704A>T (p.Ala1568=) c.2454A>T (p.Ala818=) c.3417A>T (p.Ala1139=) | |
1 | g.197091027T>C | CA422672491 | ASPM | n.2746A>G c.9459A>G (p.Ala3153=) c.9681A>G (p.Ala3227=) c.9435A>G (p.Ala3145=) c.4704A>G (p.Ala1568=) c.2454A>G (p.Ala818=) c.3417A>G (p.Ala1139=) | |
1 | g.197091027T>G | CA422672490 | ASPM | n.2746A>C c.9459A>C (p.Ala3153=) c.9681A>C (p.Ala3227=) c.9435A>C (p.Ala3145=) c.4704A>C (p.Ala1568=) c.2454A>C (p.Ala818=) c.3417A>C (p.Ala1139=) | |
1 | g.197091028G>A | CA344003704 | ASPM | n.2745C>T c.9458C>T (p.Ala3153Val) c.9680C>T (p.Ala3227Val) c.9434C>T (p.Ala3145Val) c.4703C>T (p.Ala1568Val) c.2453C>T (p.Ala818Val) c.3416C>T (p.Ala1139Val) | |
1 | g.197091028G>C | CA344003705 | ASPM | n.2745C>G c.9458C>G (p.Ala3153Gly) c.9680C>G (p.Ala3227Gly) c.9434C>G (p.Ala3145Gly) c.4703C>G (p.Ala1568Gly) c.2453C>G (p.Ala818Gly) c.3416C>G (p.Ala1139Gly) | |
1 | g.197091028G>T | CA344003706 | ASPM | n.2745C>A c.9458C>A (p.Ala3153Glu) c.9680C>A (p.Ala3227Glu) c.9434C>A (p.Ala3145Glu) c.4703C>A (p.Ala1568Glu) c.2453C>A (p.Ala818Glu) c.3416C>A (p.Ala1139Glu) | |
1 | g.197091029C>A | CA344003707 | ASPM | n.2744G>T c.9457G>T (p.Ala3153Ser) c.9679G>T (p.Ala3227Ser) c.9433G>T (p.Ala3145Ser) c.4702G>T (p.Ala1568Ser) c.2452G>T (p.Ala818Ser) c.3415G>T (p.Ala1139Ser) | |
1 | g.197091029C>G | CA344003708 | ASPM | n.2744G>C c.9457G>C (p.Ala3153Pro) c.9679G>C (p.Ala3227Pro) c.9433G>C (p.Ala3145Pro) c.4702G>C (p.Ala1568Pro) c.2452G>C (p.Ala818Pro) c.3415G>C (p.Ala1139Pro) | |
1 | g.197091029C>T | CA344003709 | ASPM | n.2744G>A c.9457G>A (p.Ala3153Thr) c.9679G>A (p.Ala3227Thr) c.9433G>A (p.Ala3145Thr) c.4702G>A (p.Ala1568Thr) c.2452G>A (p.Ala818Thr) c.3415G>A (p.Ala1139Thr) | gnomAD v4 |
1 | g.197091030T>A | CA422672492 | ASPM | n.2743A>T c.9456A>T (p.Arg3152=) c.9678A>T (p.Arg3226=) c.9432A>T (p.Arg3144=) c.4701A>T (p.Arg1567=) c.2451A>T (p.Arg817=) c.3414A>T (p.Arg1138=) | |
1 | g.197091030T>C | CA422672493 | ASPM | n.2743A>G c.9456A>G (p.Arg3152=) c.9678A>G (p.Arg3226=) c.9432A>G (p.Arg3144=) c.4701A>G (p.Arg1567=) c.2451A>G (p.Arg817=) c.3414A>G (p.Arg1138=) | |
1 | g.197091030T>G | CA422672494 | ASPM | n.2743A>C c.9456A>C (p.Arg3152=) c.9678A>C (p.Arg3226=) c.9432A>C (p.Arg3144=) c.4701A>C (p.Arg1567=) c.2451A>C (p.Arg817=) c.3414A>C (p.Arg1138=) | |
1 | g.197091031C>A | CA344003710 | ASPM | n.2742G>T c.9455G>T (p.Arg3152Leu) c.9677G>T (p.Arg3226Leu) c.9431G>T (p.Arg3144Leu) c.4700G>T (p.Arg1567Leu) c.2450G>T (p.Arg817Leu) c.3413G>T (p.Arg1138Leu) | gnomAD v4 |
1 | g.197091031C= | CA1147157246 | ASPM | n.2742G= c.9455G= (p.Arg3152=) c.9677G= (p.Arg3226=) c.9431G= (p.Arg3144=) c.4700G= (p.Arg1567=) c.2450G= (p.Arg817=) c.3413G= (p.Arg1138=) | |
1 | g.197091031C>G | CA344003711 | ASPM | n.2742G>C c.9455G>C (p.Arg3152Pro) c.9677G>C (p.Arg3226Pro) c.9431G>C (p.Arg3144Pro) c.4700G>C (p.Arg1567Pro) c.2450G>C (p.Arg817Pro) c.3413G>C (p.Arg1138Pro) | gnomAD v4 |
1 | g.197091031C>T | CA1308941 | ASPM | n.2742G>A c.9455G>A (p.Arg3152Gln) c.9677G>A (p.Arg3226Gln) c.9431G>A (p.Arg3144Gln) c.4700G>A (p.Arg1567Gln) c.2450G>A (p.Arg817Gln) c.3413G>A (p.Arg1138Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197091032G>A | CA271149 | ASPM | n.2741C>T c.9454C>T (p.Arg3152Ter) c.9676C>T (p.Arg3226Ter) c.9430C>T (p.Arg3144Ter) c.4699C>T (p.Arg1567Ter) c.2449C>T (p.Arg817Ter) c.3412C>T (p.Arg1138Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197091032G>C | CA344003712 | ASPM | n.2741C>G c.9454C>G (p.Arg3152Gly) c.9676C>G (p.Arg3226Gly) c.9430C>G (p.Arg3144Gly) c.4699C>G (p.Arg1567Gly) c.2449C>G (p.Arg817Gly) c.3412C>G (p.Arg1138Gly) | |
1 | g.197091032G= | CA1148224809 | ASPM | n.2741C= c.9454C= (p.Arg3152=) c.9676C= (p.Arg3226=) c.9430C= (p.Arg3144=) c.4699C= (p.Arg1567=) c.2449C= (p.Arg817=) c.3412C= (p.Arg1138=) | |
1 | g.197091032G>T | CA422672495 | ASPM | n.2741C>A c.9454C>A (p.Arg3152=) c.9676C>A (p.Arg3226=) c.9430C>A (p.Arg3144=) c.4699C>A (p.Arg1567=) c.2449C>A (p.Arg817=) c.3412C>A (p.Arg1138=) | |
1 | g.197091033A>C | CA344003713 | ASPM | n.2740T>G c.9453T>G (p.Phe3151Leu) c.9675T>G (p.Phe3225Leu) c.9429T>G (p.Phe3143Leu) c.4698T>G (p.Phe1566Leu) c.2448T>G (p.Phe816Leu) c.3411T>G (p.Phe1137Leu) | |
1 | g.197091033A>G | CA422672496 | ASPM | n.2740T>C c.9453T>C (p.Phe3151=) c.9675T>C (p.Phe3225=) c.9429T>C (p.Phe3143=) c.4698T>C (p.Phe1566=) c.2448T>C (p.Phe816=) c.3411T>C (p.Phe1137=) | |
1 | g.197091033A>T | CA344003714 | ASPM | n.2740T>A c.9453T>A (p.Phe3151Leu) c.9675T>A (p.Phe3225Leu) c.9429T>A (p.Phe3143Leu) c.4698T>A (p.Phe1566Leu) c.2448T>A (p.Phe816Leu) c.3411T>A (p.Phe1137Leu) | |
1 | g.197091034A>C | CA344003716 | ASPM | n.2739T>G c.9452T>G (p.Phe3151Cys) c.9674T>G (p.Phe3225Cys) c.9428T>G (p.Phe3143Cys) c.4697T>G (p.Phe1566Cys) c.2447T>G (p.Phe816Cys) c.3410T>G (p.Phe1137Cys) | |
1 | g.197091034A>G | CA344003717 | ASPM | n.2739T>C c.9452T>C (p.Phe3151Ser) c.9674T>C (p.Phe3225Ser) c.9428T>C (p.Phe3143Ser) c.4697T>C (p.Phe1566Ser) c.2447T>C (p.Phe816Ser) c.3410T>C (p.Phe1137Ser) | |
1 | g.197091034A>T | CA344003718 | ASPM | n.2739T>A c.9452T>A (p.Phe3151Tyr) c.9674T>A (p.Phe3225Tyr) c.9428T>A (p.Phe3143Tyr) c.4697T>A (p.Phe1566Tyr) c.2447T>A (p.Phe816Tyr) c.3410T>A (p.Phe1137Tyr) | |
1 | g.197091035A>C | CA344003720 | ASPM | n.2738T>G c.9451T>G (p.Phe3151Val) c.9673T>G (p.Phe3225Val) c.9427T>G (p.Phe3143Val) c.4696T>G (p.Phe1566Val) c.2446T>G (p.Phe816Val) c.3409T>G (p.Phe1137Val) | |
1 | g.197091035A>G | CA344003722 | ASPM | n.2738T>C c.9451T>C (p.Phe3151Leu) c.9673T>C (p.Phe3225Leu) c.9427T>C (p.Phe3143Leu) c.4696T>C (p.Phe1566Leu) c.2446T>C (p.Phe816Leu) c.3409T>C (p.Phe1137Leu) | |
1 | g.197091035A>T | CA344003724 | ASPM | n.2738T>A c.9451T>A (p.Phe3151Ile) c.9673T>A (p.Phe3225Ile) c.9427T>A (p.Phe3143Ile) c.4696T>A (p.Phe1566Ile) c.2446T>A (p.Phe816Ile) c.3409T>A (p.Phe1137Ile) | |
1 | g.197091036C>A | CA344003727 | ASPM | n.2737G>T c.9450G>T (p.Trp3150Cys) c.9672G>T (p.Trp3224Cys) c.9426G>T (p.Trp3142Cys) c.4695G>T (p.Trp1565Cys) c.2445G>T (p.Trp815Cys) c.3408G>T (p.Trp1136Cys) | |
1 | g.197091036C>G | CA344003726 | ASPM | n.2737G>C c.9450G>C (p.Trp3150Cys) c.9672G>C (p.Trp3224Cys) c.9426G>C (p.Trp3142Cys) c.4695G>C (p.Trp1565Cys) c.2445G>C (p.Trp815Cys) c.3408G>C (p.Trp1136Cys) | |
1 | g.197091036C>T | CA344003725 | ASPM | n.2737G>A c.9450G>A (p.Trp3150Ter) c.9672G>A (p.Trp3224Ter) c.9426G>A (p.Trp3142Ter) c.4695G>A (p.Trp1565Ter) c.2445G>A (p.Trp815Ter) c.3408G>A (p.Trp1136Ter) | ClinVar dbSNP |
1 | g.197091037C>A | CA344003729 | ASPM | n.2736G>T c.9449G>T (p.Trp3150Leu) c.9671G>T (p.Trp3224Leu) c.9425G>T (p.Trp3142Leu) c.4694G>T (p.Trp1565Leu) c.2444G>T (p.Trp815Leu) c.3407G>T (p.Trp1136Leu) | gnomAD v4 COSMIC |
1 | g.197091037C>G | CA344003731 | ASPM | n.2736G>C c.9449G>C (p.Trp3150Ser) c.9671G>C (p.Trp3224Ser) c.9425G>C (p.Trp3142Ser) c.4694G>C (p.Trp1565Ser) c.2444G>C (p.Trp815Ser) c.3407G>C (p.Trp1136Ser) | |
1 | g.197091037C>T | CA344003733 | ASPM | n.2736G>A c.9449G>A (p.Trp3150Ter) c.9671G>A (p.Trp3224Ter) c.9425G>A (p.Trp3142Ter) c.4694G>A (p.Trp1565Ter) c.2444G>A (p.Trp815Ter) c.3407G>A (p.Trp1136Ter) | |
1 | g.197091038A= | CA1217925898 | ASPM | n.2735T= c.9448T= (p.Trp3150=) c.9670T= (p.Trp3224=) c.9424T= (p.Trp3142=) c.4693T= (p.Trp1565=) c.2443T= (p.Trp815=) c.3406T= (p.Trp1136=) | |
1 | g.197091038A>C | CA1308942 | ASPM | n.2735T>G c.9448T>G (p.Trp3150Gly) c.9670T>G (p.Trp3224Gly) c.9424T>G (p.Trp3142Gly) c.4693T>G (p.Trp1565Gly) c.2443T>G (p.Trp815Gly) c.3406T>G (p.Trp1136Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197091038A>G | CA344003737 | ASPM | n.2735T>C c.9448T>C (p.Trp3150Arg) c.9670T>C (p.Trp3224Arg) c.9424T>C (p.Trp3142Arg) c.4693T>C (p.Trp1565Arg) c.2443T>C (p.Trp815Arg) c.3406T>C (p.Trp1136Arg) | COSMIC |
1 | g.197091038A>T | CA344003739 | ASPM | n.2735T>A c.9448T>A (p.Trp3150Arg) c.9670T>A (p.Trp3224Arg) c.9424T>A (p.Trp3142Arg) c.4693T>A (p.Trp1565Arg) c.2443T>A (p.Trp815Arg) c.3406T>A (p.Trp1136Arg) | |
1 | g.197091038_197091040delinsATC | CA1217925899 | ASPM | n.2733_2735delinsGAT c.9446_9448delinsGAT (p.Arg3149=) c.9668_9670delinsGAT (p.Arg3223=) c.9422_9424delinsGAT (p.Arg3141=) c.4691_4693delinsGAT (p.Arg1564=) c.2441_2443delinsGAT (p.Arg814=) c.3404_3406delinsGAT (p.Arg1135=) | |
1 | g.197091039T>A | CA344003741 | ASPM | n.2734A>T c.9447A>T (p.Arg3149Ser) c.9669A>T (p.Arg3223Ser) c.9423A>T (p.Arg3141Ser) c.4692A>T (p.Arg1564Ser) c.2442A>T (p.Arg814Ser) c.3405A>T (p.Arg1135Ser) | |
1 | g.197091039T>C | CA422672497 | ASPM | n.2734A>G c.9447A>G (p.Arg3149=) c.9669A>G (p.Arg3223=) c.9423A>G (p.Arg3141=) c.4692A>G (p.Arg1564=) c.2442A>G (p.Arg814=) c.3405A>G (p.Arg1135=) | |
1 | g.197091039T>G | CA344003746 | ASPM | n.2734A>C c.9447A>C (p.Arg3149Ser) c.9669A>C (p.Arg3223Ser) c.9423A>C (p.Arg3141Ser) c.4692A>C (p.Arg1564Ser) c.2442A>C (p.Arg814Ser) c.3405A>C (p.Arg1135Ser) | |
1 | g.197091042_197091043del | CA729743266 | ASPM | n.2733_2734del c.9446_9447del c.9668_9669del c.9422_9423del c.4691_4692del c.2441_2442del c.3404_3405del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197091040C>A | CA344003747 | ASPM | n.2733G>T c.9446G>T (p.Arg3149Ile) c.9668G>T (p.Arg3223Ile) c.9422G>T (p.Arg3141Ile) c.4691G>T (p.Arg1564Ile) c.2441G>T (p.Arg814Ile) c.3404G>T (p.Arg1135Ile) | ClinVar dbSNP gnomAD v4 |
1 | g.197091040C= | CA1217925905 | ASPM | n.2733G= c.9446G= (p.Arg3149=) c.9668G= (p.Arg3223=) c.9422G= (p.Arg3141=) c.4691G= (p.Arg1564=) c.2441G= (p.Arg814=) c.3404G= (p.Arg1135=) | |
1 | g.197091040C>G | CA344003748 | ASPM | n.2733G>C c.9446G>C (p.Arg3149Thr) c.9668G>C (p.Arg3223Thr) c.9422G>C (p.Arg3141Thr) c.4691G>C (p.Arg1564Thr) c.2441G>C (p.Arg814Thr) c.3404G>C (p.Arg1135Thr) | |
1 | g.197091040C>T | CA344003749 | ASPM | n.2733G>A c.9446G>A (p.Arg3149Lys) c.9668G>A (p.Arg3223Lys) c.9422G>A (p.Arg3141Lys) c.4691G>A (p.Arg1564Lys) c.2441G>A (p.Arg814Lys) c.3404G>A (p.Arg1135Lys) | |
1 | g.197091041T>A | CA344003750 | ASPM | n.2732A>T c.9445A>T (p.Arg3149Ter) c.9667A>T (p.Arg3223Ter) c.9421A>T (p.Arg3141Ter) c.4690A>T (p.Arg1564Ter) c.2440A>T (p.Arg814Ter) c.3403A>T (p.Arg1135Ter) | |
1 | g.197091041T>C | CA344003751 | ASPM | n.2732A>G c.9445A>G (p.Arg3149Gly) c.9667A>G (p.Arg3223Gly) c.9421A>G (p.Arg3141Gly) c.4690A>G (p.Arg1564Gly) c.2440A>G (p.Arg814Gly) c.3403A>G (p.Arg1135Gly) | |
1 | g.197091041T>G | CA422672498 | ASPM | n.2732A>C c.9445A>C (p.Arg3149=) c.9667A>C (p.Arg3223=) c.9421A>C (p.Arg3141=) c.4690A>C (p.Arg1564=) c.2440A>C (p.Arg814=) c.3403A>C (p.Arg1135=) | |
1 | g.197091042C>A | CA344003755 | ASPM | n.2732-1G>T c.9445-1G>T (n.9445-1G>T) c.9667-1G>T (n.9667-1G>T) c.9421-1G>T (n.9421-1G>T) c.4690-1G>T (n.4690-1G>T) c.2440-1G>T (n.2440-1G>T) c.3403-1G>T (n.3403-1G>T) | gnomAD v4 |
1 | g.197091042C>G | CA344003759 | ASPM | n.2732-1G>C c.9445-1G>C (n.9445-1G>C) c.9667-1G>C (n.9667-1G>C) c.9421-1G>C (n.9421-1G>C) c.4690-1G>C (n.4690-1G>C) c.2440-1G>C (n.2440-1G>C) c.3403-1G>C (n.3403-1G>C) | |
1 | g.197091042C>T | CA344003757 | ASPM | n.2732-1G>A c.9445-1G>A (n.9445-1G>A) c.9667-1G>A (n.9667-1G>A) c.9421-1G>A (n.9421-1G>A) c.4690-1G>A (n.4690-1G>A) c.2440-1G>A (n.2440-1G>A) c.3403-1G>A (n.3403-1G>A) | |
1 | g.197091043T>A | CA344003763 | ASPM | n.2732-2A>T c.9445-2A>T (n.9445-2A>T) c.9667-2A>T (n.9667-2A>T) c.9421-2A>T (n.9421-2A>T) c.4690-2A>T (n.4690-2A>T) c.2440-2A>T (n.2440-2A>T) c.3403-2A>T (n.3403-2A>T) | |
1 | g.197091043T>C | CA344003765 | ASPM | n.2732-2A>G c.9445-2A>G (n.9445-2A>G) c.9667-2A>G (n.9667-2A>G) c.9421-2A>G (n.9421-2A>G) c.4690-2A>G (n.4690-2A>G) c.2440-2A>G (n.2440-2A>G) c.3403-2A>G (n.3403-2A>G) | |
1 | g.197091043T>G | CA344003767 | ASPM | n.2732-2A>C c.9445-2A>C (n.9445-2A>C) c.9667-2A>C (n.9667-2A>C) c.9421-2A>C (n.9421-2A>C) c.4690-2A>C (n.4690-2A>C) c.2440-2A>C (n.2440-2A>C) c.3403-2A>C (n.3403-2A>C) | |
1 | g.197091044G>C | CA2649660860 | ASPM | n.2732-3C>G c.9445-3C>G (n.9445-3C>G) c.9667-3C>G (n.9667-3C>G) c.9421-3C>G (n.9421-3C>G) c.4690-3C>G (n.4690-3C>G) c.2440-3C>G (n.2440-3C>G) c.3403-3C>G (n.3403-3C>G) | gnomAD v4 |
1 | g.197091045T>A | CA2649660861 | ASPM | n.2732-4A>T c.9445-4A>T (n.9445-4A>T) c.9667-4A>T (n.9667-4A>T) c.9421-4A>T (n.9421-4A>T) c.4690-4A>T (n.4690-4A>T) c.2440-4A>T (n.2440-4A>T) c.3403-4A>T (n.3403-4A>T) | gnomAD v4 |
1 | g.197091045T>C | CA1217925907 | ASPM | n.2732-4A>G c.9445-4A>G (n.9445-4A>G) c.9667-4A>G (n.9667-4A>G) c.9421-4A>G (n.9421-4A>G) c.4690-4A>G (n.4690-4A>G) c.2440-4A>G (n.2440-4A>G) c.3403-4A>G (n.3403-4A>G) | dbSNP gnomAD v4 |
1 | g.197091045T= | CA1217925906 | ASPM | n.2732-4A= c.9445-4A= (n.9445-4A=) c.9667-4A= (n.9667-4A=) c.9421-4A= (n.9421-4A=) c.4690-4A= (n.4690-4A=) c.2440-4A= (n.2440-4A=) c.3403-4A= (n.3403-4A=) |