| 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) |