UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39665858_39665881del | CA2637632742 | TCAP | c.253_276del (p.Tyr85_Pro92del) c.181_204del | gnomAD v4 |
| 17 | g.39665868T>A | CA399304658 | TCAP | c.263T>A (p.Val88Glu) c.191T>A (p.Val64Glu) | ClinVar |
| 17 | g.39665868T>C | CA399304661 | TCAP | c.263T>C (p.Val88Ala) c.191T>C (p.Val64Ala) | |
| 17 | g.39665868T>G | CA399304665 | TCAP | c.263T>G (p.Val88Gly) c.191T>G (p.Val64Gly) | |
| 17 | g.39665869A= | CA2259200786 | TCAP | c.264A= (p.Val88=) c.192A= (p.Val64=) | |
| 17 | g.39665869A>C | CA499889146 | TCAP | c.264A>C (p.Val88=) c.192A>C (p.Val64=) | |
| 17 | g.39665869A>G | CA499889147 | TCAP | c.264A>G (p.Val88=) c.192A>G (p.Val64=) | dbSNP |
| 17 | g.39665869A>T | CA8532886 | TCAP | c.264A>T (p.Val88=) c.192A>T (p.Val64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665870C>A | CA399304673 | TCAP | c.265C>A (p.Leu89Met) c.193C>A (p.Leu65Met) | ClinVar |
| 17 | g.39665870C= | CA2259200787 | TCAP | c.265C= (p.Leu89=) c.193C= (p.Leu65=) | |
| 17 | g.39665870C>G | CA399304676 | TCAP | c.265C>G (p.Leu89Val) c.193C>G (p.Leu65Val) | |
| 17 | g.39665870C>T | CA499889148 | TCAP | c.265C>T (p.Leu89=) c.193C>T (p.Leu65=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665871T>A | CA399304681 | TCAP | c.266T>A (p.Leu89Gln) c.194T>A (p.Leu65Gln) | |
| 17 | g.39665871T>C | CA399304684 | TCAP | c.266T>C (p.Leu89Pro) c.194T>C (p.Leu65Pro) | |
| 17 | g.39665871T>G | CA399304687 | TCAP | c.266T>G (p.Leu89Arg) c.194T>G (p.Leu65Arg) | |
| 17 | g.39665872G>A | CA499889149 | TCAP | c.267G>A (p.Leu89=) c.195G>A (p.Leu65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665872G>C | CA499889150 | TCAP | c.267G>C (p.Leu89=) c.195G>C (p.Leu65=) | |
| 17 | g.39665872G= | CA2259200788 | TCAP | c.267G= (p.Leu89=) c.195G= (p.Leu65=) | |
| 17 | g.39665872G>T | CA499889151 | TCAP | c.267G>T (p.Leu89=) c.195G>T (p.Leu65=) | |
| 17 | g.39665873C>A | CA399304698 | TCAP | c.268C>A (p.Pro90Thr) c.196C>A (p.Pro66Thr) | |
| 17 | g.39665873C= | CA2259200789 | TCAP | c.268C= (p.Pro90=) c.196C= (p.Pro66=) | |
| 17 | g.39665873C>G | CA399304703 | TCAP | c.268C>G (p.Pro90Ala) c.196C>G (p.Pro66Ala) | dbSNP |
| 17 | g.39665873C>T | CA399304705 | TCAP | c.268C>T (p.Pro90Ser) c.196C>T (p.Pro66Ser) | dbSNP gnomAD v2 |
| 17 | g.39665874C>A | CA399304716 | TCAP | c.269C>A (p.Pro90Gln) c.197C>A (p.Pro66Gln) | ClinVar dbSNP |
| 17 | g.39665874C= | CA2259200790 | TCAP | c.269C= (p.Pro90=) c.197C= (p.Pro66=) | |
| 17 | g.39665874C>G | CA399304712 | TCAP | c.269C>G (p.Pro90Arg) c.197C>G (p.Pro66Arg) | |
| 17 | g.39665874C>T | CA181091 | TCAP | c.269C>T (p.Pro90Leu) c.197C>T (p.Pro66Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.39665875G>A | CA241513 | TCAP | c.270G>A (p.Pro90=) c.198G>A (p.Pro66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665875G>C | CA499889152 | TCAP | c.270G>C (p.Pro90=) c.198G>C (p.Pro66=) | |
| 17 | g.39665875G= | CA2259200791 | TCAP | c.270G= (p.Pro90=) c.198G= (p.Pro66=) | |
| 17 | g.39665875G>T | CA499889153 | TCAP | c.270G>T (p.Pro90=) c.198G>T (p.Pro66=) | dbSNP |
| 17 | g.39665876C>A | CA399304725 | TCAP | c.271C>A (p.Leu91Met) c.199C>A (p.Leu67Met) | ClinVar |
| 17 | g.39665876C>G | CA399304727 | TCAP | c.271C>G (p.Leu91Val) c.199C>G (p.Leu67Val) | |
| 17 | g.39665876C>T | CA499889154 | TCAP | c.271C>T (p.Leu91=) c.199C>T (p.Leu67=) | |
| 17 | g.39665877T>A | CA399304736 | TCAP | c.272T>A (p.Leu91Gln) c.200T>A (p.Leu67Gln) | |
| 17 | g.39665877T>C | CA399304739 | TCAP | c.272T>C (p.Leu91Pro) c.200T>C (p.Leu67Pro) | |
| 17 | g.39665877T>G | CA399304742 | TCAP | c.272T>G (p.Leu91Arg) c.200T>G (p.Leu67Arg) | |
| 17 | g.39665878G>A | CA499889155 | TCAP | c.273G>A (p.Leu91=) c.201G>A (p.Leu67=) | dbSNP |
| 17 | g.39665878G>C | CA499889156 | TCAP | c.273G>C (p.Leu91=) c.201G>C (p.Leu67=) | |
| 17 | g.39665878G= | CA2259200792 | TCAP | c.273G= (p.Leu91=) c.201G= (p.Leu67=) | |
| 17 | g.39665878G>T | CA499889157 | TCAP | c.273G>T (p.Leu91=) c.201G>T (p.Leu67=) | |
| 17 | g.39665879C>A | CA399304748 | TCAP | c.274C>A (p.Pro92Thr) c.202C>A (p.Pro68Thr) | |
| 17 | g.39665879C>G | CA399304751 | TCAP | c.274C>G (p.Pro92Ala) c.202C>G (p.Pro68Ala) | |
| 17 | g.39665879C>T | CA399304756 | TCAP | c.274C>T (p.Pro92Ser) c.202C>T (p.Pro68Ser) | |
| 17 | g.39665880C>A | CA399304758 | TCAP | c.275C>A (p.Pro92His) c.203C>A (p.Pro68His) | ClinVar dbSNP |
| 17 | g.39665880C= | CA2259200793 | TCAP | c.275C= (p.Pro92=) c.203C= (p.Pro68=) | |
| 17 | g.39665880C>G | CA399304761 | TCAP | c.275C>G (p.Pro92Arg) c.203C>G (p.Pro68Arg) | |
| 17 | g.39665880C>T | CA399304766 | TCAP | c.275C>T (p.Pro92Leu) c.203C>T (p.Pro68Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665881C>A | CA8532887 | TCAP | c.276C>A (p.Pro92=) c.204C>A (p.Pro68=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665881C= | CA2259200794 | TCAP | c.276C= (p.Pro92=) c.204C= (p.Pro68=) | |
| 17 | g.39665881C>G | CA499889158 | TCAP | c.276C>G (p.Pro92=) c.204C>G (p.Pro68=) | gnomAD v4 |
| 17 | g.39665881C>T | CA290434115 | TCAP | c.276C>T (p.Pro92=) c.204C>T (p.Pro68=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665882A= | CA2259200795 | TCAP | c.277A= (p.Ile93=) c.205A= (p.Ile69=) | |
| 17 | g.39665882A>C | CA290434119 | TCAP | c.277A>C (p.Ile93Leu) c.205A>C (p.Ile69Leu) | dbSNP |
| 17 | g.39665882A>G | CA399304783 | TCAP | c.277A>G (p.Ile93Val) c.205A>G (p.Ile69Val) | ClinVar |
| 17 | g.39665882A>T | CA399304778 | TCAP | c.277A>T (p.Ile93Phe) c.205A>T (p.Ile69Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665883T>A | CA399304787 | TCAP | c.278T>A (p.Ile93Asn) c.206T>A (p.Ile69Asn) | |
| 17 | g.39665883T>C | CA399304791 | TCAP | c.278T>C (p.Ile93Thr) c.206T>C (p.Ile69Thr) | ClinVar dbSNP |
| 17 | g.39665883T>G | CA399304795 | TCAP | c.278T>G (p.Ile93Ser) c.206T>G (p.Ile69Ser) | |
| 17 | g.39665883T= | CA2259200796 | TCAP | c.278T= (p.Ile93=) c.206T= (p.Ile69=) | |
| 17 | g.39665884C>A | CA499889159 | TCAP | c.279C>A (p.Ile93=) c.207C>A (p.Ile69=) | gnomAD v4 |
| 17 | g.39665884C= | CA2259200797 | TCAP | c.279C= (p.Ile93=) c.207C= (p.Ile69=) | |
| 17 | g.39665884C>G | CA399304797 | TCAP | c.279C>G (p.Ile93Met) c.207C>G (p.Ile69Met) | |
| 17 | g.39665884C>T | CA8532888 | TCAP | c.279C>T (p.Ile93=) c.207C>T (p.Ile69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665885T>A | CA399304816 | TCAP | c.280T>A (p.Phe94Ile) c.208T>A (p.Phe70Ile) | |
| 17 | g.39665885T>C | CA399304813 | TCAP | c.280T>C (p.Phe94Leu) c.208T>C (p.Phe70Leu) | |
| 17 | g.39665885T>G | CA399304810 | TCAP | c.280T>G (p.Phe94Val) c.208T>G (p.Phe70Val) | |
| 17 | g.39665886T>A | CA399304822 | TCAP | c.281T>A (p.Phe94Tyr) c.209T>A (p.Phe70Tyr) | |
| 17 | g.39665886T>C | CA399304825 | TCAP | c.281T>C (p.Phe94Ser) c.209T>C (p.Phe70Ser) | |
| 17 | g.39665886T>G | CA399304830 | TCAP | c.281T>G (p.Phe94Cys) c.209T>G (p.Phe70Cys) | |
| 17 | g.39665887C>A | CA399304831 | TCAP | c.282C>A (p.Phe94Leu) c.210C>A (p.Phe70Leu) | |
| 17 | g.39665887C= | CA2259200798 | TCAP | c.282C= (p.Phe94=) c.210C= (p.Phe70=) | |
| 17 | g.39665887C>G | CA399304832 | TCAP | c.282C>G (p.Phe94Leu) c.210C>G (p.Phe70Leu) | |
| 17 | g.39665887C>T | CA8532889 | TCAP | c.282C>T (p.Phe94=) c.210C>T (p.Phe70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665888A= | CA2259200799 | TCAP | c.283A= (p.Thr95=) c.211A= (p.Thr71=) | |
| 17 | g.39665888A>C | CA399304834 | TCAP | c.283A>C (p.Thr95Pro) c.211A>C (p.Thr71Pro) | dbSNP |
| 17 | g.39665888A>G | CA399304839 | TCAP | c.283A>G (p.Thr95Ala) c.211A>G (p.Thr71Ala) | gnomAD v4 |
| 17 | g.39665888A>T | CA399304836 | TCAP | c.283A>T (p.Thr95Ser) c.211A>T (p.Thr71Ser) | |
| 17 | g.39665889C>A | CA399304840 | TCAP | c.284C>A (p.Thr95Asn) c.212C>A (p.Thr71Asn) | |
| 17 | g.39665889C>G | CA399304841 | TCAP | c.284C>G (p.Thr95Ser) c.212C>G (p.Thr71Ser) | |
| 17 | g.39665889C>T | CA399304842 | TCAP | c.284C>T (p.Thr95Ile) c.212C>T (p.Thr71Ile) | |
| 17 | g.39665890C>A | CA499889160 | TCAP | c.285C>A (p.Thr95=) c.213C>A (p.Thr71=) | |
| 17 | g.39665890C= | CA2259200800 | TCAP | c.285C= (p.Thr95=) c.213C= (p.Thr71=) | |
| 17 | g.39665890C>G | CA499889161 | TCAP | c.285C>G (p.Thr95=) c.213C>G (p.Thr71=) | |
| 17 | g.39665890C>T | CA8532890 | TCAP | c.285C>T (p.Thr95=) c.213C>T (p.Thr71=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665891C>A | CA399304847 | TCAP | c.286C>A (p.Pro96Thr) c.214C>A (p.Pro72Thr) | |
| 17 | g.39665891C= | CA2259200801 | TCAP | c.286C= (p.Pro96=) c.214C= (p.Pro72=) | |
| 17 | g.39665891C>G | CA399304850 | TCAP | c.286C>G (p.Pro96Ala) c.214C>G (p.Pro72Ala) | |
| 17 | g.39665891C>T | CA399304853 | TCAP | c.286C>T (p.Pro96Ser) c.214C>T (p.Pro72Ser) | ClinVar dbSNP |
| 17 | g.39665892C>A | CA399304858 | TCAP | c.287C>A (p.Pro96His) c.215C>A (p.Pro72His) | dbSNP |
| 17 | g.39665892C= | CA2259200802 | TCAP | c.287C= (p.Pro96=) c.215C= (p.Pro72=) | |
| 17 | g.39665892C>G | CA399304860 | TCAP | c.287C>G (p.Pro96Arg) c.215C>G (p.Pro72Arg) | |
| 17 | g.39665892C>T | CA399304864 | TCAP | c.287C>T (p.Pro96Leu) c.215C>T (p.Pro72Leu) | |
| 17 | g.39665893T>A | CA499889162 | TCAP | c.288T>A (p.Pro96=) c.216T>A (p.Pro72=) | |
| 17 | g.39665893T>C | CA499889163 | TCAP | c.288T>C (p.Pro96=) c.216T>C (p.Pro72=) | dbSNP |
| 17 | g.39665893T>G | CA499889164 | TCAP | c.288T>G (p.Pro96=) c.216T>G (p.Pro72=) | |
| 17 | g.39665894G>A | CA399304869 | TCAP | c.289G>A (p.Ala97Thr) c.217G>A (p.Ala73Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665894G>C | CA399304877 | TCAP | c.289G>C (p.Ala97Pro) c.217G>C (p.Ala73Pro) | |
| 17 | g.39665894G= | CA2259200803 | TCAP | c.289G= (p.Ala97=) c.217G= (p.Ala73=) | |
| 17 | g.39665894G>T | CA399304873 | TCAP | c.289G>T (p.Ala97Ser) c.217G>T (p.Ala73Ser) | |
| 17 | g.39665895C>A | CA399304882 | TCAP | c.290C>A (p.Ala97Asp) c.218C>A (p.Ala73Asp) | |
| 17 | g.39665895C= | CA2259200804 | TCAP | c.290C= (p.Ala97=) c.218C= (p.Ala73=) | |
| 17 | g.39665895C>G | CA399304883 | TCAP | c.290C>G (p.Ala97Gly) c.218C>G (p.Ala73Gly) | |
| 17 | g.39665895C>T | CA308820 | TCAP | c.290C>T (p.Ala97Val) c.218C>T (p.Ala73Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665896C>A | CA499889165 | TCAP | c.291C>A (p.Ala97=) c.219C>A (p.Ala73=) | dbSNP |
| 17 | g.39665896C= | CA2259200805 | TCAP | c.291C= (p.Ala97=) c.219C= (p.Ala73=) | |
| 17 | g.39665896C>G | CA499889166 | TCAP | c.291C>G (p.Ala97=) c.219C>G (p.Ala73=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665896C>T | CA499889167 | TCAP | c.291C>T (p.Ala97=) c.219C>T (p.Ala73=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665897A>C | CA399304884 | TCAP | c.292A>C (p.Lys98Gln) c.220A>C (p.Lys74Gln) | |
| 17 | g.39665897A>G | CA399304885 | TCAP | c.292A>G (p.Lys98Glu) c.220A>G (p.Lys74Glu) | |
| 17 | g.39665897A>T | CA399304888 | TCAP | c.292A>T (p.Lys98Ter) c.220A>T (p.Lys74Ter) | |
| 17 | g.39665898_39665900del | CA2637632822 | TCAP | c.293_295del (p.Lys98del) c.221_223del (p.Lys74del) | gnomAD v4 |
| 17 | g.39665898A>C | CA399304901 | TCAP | c.293A>C (p.Lys98Thr) c.221A>C (p.Lys74Thr) | |
| 17 | g.39665898A>G | CA399304897 | TCAP | c.293A>G (p.Lys98Arg) c.221A>G (p.Lys74Arg) | |
| 17 | g.39665898A>T | CA399304893 | TCAP | c.293A>T (p.Lys98Met) c.221A>T (p.Lys74Met) | |
| 17 | g.39665899G>A | CA8532891 | TCAP | c.294G>A (p.Lys98=) c.222G>A (p.Lys74=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665899G>C | CA399304907 | TCAP | c.294G>C (p.Lys98Asn) c.222G>C (p.Lys74Asn) | |
| 17 | g.39665899G= | CA2259200806 | TCAP | c.294G= (p.Lys98=) c.222G= (p.Lys74=) | |
| 17 | g.39665899G>T | CA399304914 | TCAP | c.294G>T (p.Lys98Asn) c.222G>T (p.Lys74Asn) | |
| 17 | g.39665899_39665900delinsAG | CA2259200808 | TCAP | c.294_295delinsAG (p.Met99Val) c.222_223delinsAG (p.Met75Val) | ClinVar dbSNP |
| 17 | g.39665899_39665900delinsGA | CA2259200807 | TCAP | c.294_295delinsGA (p.Lys98=) c.222_223delinsGA (p.Lys74=) | |
| 17 | g.39665900A= | CA2259200809 | TCAP | c.295A= (p.Met99=) c.223A= (p.Met75=) | |
| 17 | g.39665900A>C | CA399304919 | TCAP | c.295A>C (p.Met99Leu) c.223A>C (p.Met75Leu) | |
| 17 | g.39665900A>G | CA8532892 | TCAP | c.295A>G (p.Met99Val) c.223A>G (p.Met75Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.39665900A>T | CA399304925 | TCAP | c.295A>T (p.Met99Leu) c.223A>T (p.Met75Leu) | |
| 17 | g.39665901T>A | CA399304930 | TCAP | c.296T>A (p.Met99Lys) c.224T>A (p.Met75Lys) | |
| 17 | g.39665901T>C | CA399304935 | TCAP | c.296T>C (p.Met99Thr) c.224T>C (p.Met75Thr) | gnomAD v4 |
| 17 | g.39665901T>G | CA399304931 | TCAP | c.296T>G (p.Met99Arg) c.224T>G (p.Met75Arg) | |
| 17 | g.39665902G>A | CA399304939 | TCAP | c.297G>A (p.Met99Ile) c.225G>A (p.Met75Ile) | |
| 17 | g.39665902G>C | CA399304944 | TCAP | c.297G>C (p.Met99Ile) c.225G>C (p.Met75Ile) | |
| 17 | g.39665902G>T | CA399304945 | TCAP | c.297G>T (p.Met99Ile) c.225G>T (p.Met75Ile) | |
| 17 | g.39665903_39665918del | CA2637632837 | TCAP | c.298_313del (p.Gly100SerfsTer?) c.226_241del (p.Gly76SerfsTer?) | gnomAD v4 |
| 17 | g.39665903G>A | CA399304949 | TCAP | c.298G>A (p.Gly100Ser) c.226G>A (p.Gly76Ser) | |
| 17 | g.39665903G>C | CA399304951 | TCAP | c.298G>C (p.Gly100Arg) c.226G>C (p.Gly76Arg) | |
| 17 | g.39665903G>T | CA399304953 | TCAP | c.298G>T (p.Gly100Cys) c.226G>T (p.Gly76Cys) | |
| 17 | g.39665904G>A | CA399304955 | TCAP | c.299G>A (p.Gly100Asp) c.227G>A (p.Gly76Asp) | gnomAD v4 |
| 17 | g.39665904G>C | CA399304958 | TCAP | c.299G>C (p.Gly100Ala) c.227G>C (p.Gly76Ala) | |
| 17 | g.39665904G>T | CA399304962 | TCAP | c.299G>T (p.Gly100Val) c.227G>T (p.Gly76Val) | |
| 17 | g.39665905C>A | CA8532893 | TCAP | c.300C>A (p.Gly100=) c.228C>A (p.Gly76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665905C= | CA2259200810 | TCAP | c.300C= (p.Gly100=) c.228C= (p.Gly76=) | |
| 17 | g.39665905C>G | CA499889168 | TCAP | c.300C>G (p.Gly100=) c.228C>G (p.Gly76=) | dbSNP |
| 17 | g.39665905C>T | CA8532894 | TCAP | c.300C>T (p.Gly100=) c.228C>T (p.Gly76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665906G>A | CA178078 | TCAP | c.301G>A (p.Ala101Thr) c.229G>A (p.Ala77Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665906G>C | CA399304980 | TCAP | c.301G>C (p.Ala101Pro) c.229G>C (p.Ala77Pro) | |
| 17 | g.39665906G= | CA2259200811 | TCAP | c.301G= (p.Ala101=) c.229G= (p.Ala77=) | |
| 17 | g.39665906G>T | CA399304976 | TCAP | c.301G>T (p.Ala101Ser) c.229G>T (p.Ala77Ser) | |
| 17 | g.39665907C>A | CA399304987 | TCAP | c.302C>A (p.Ala101Asp) c.230C>A (p.Ala77Asp) | |
| 17 | g.39665907C>G | CA399305003 | TCAP | c.302C>G (p.Ala101Gly) c.230C>G (p.Ala77Gly) | |
| 17 | g.39665907C>T | CA399305004 | TCAP | c.302C>T (p.Ala101Val) c.230C>T (p.Ala77Val) | |
| 17 | g.39665908C>A | CA499889169 | TCAP | c.303C>A (p.Ala101=) c.231C>A (p.Ala77=) | |
| 17 | g.39665908C>G | CA499889170 | TCAP | c.303C>G (p.Ala101=) c.231C>G (p.Ala77=) | |
| 17 | g.39665908C>T | CA499889171 | TCAP | c.303C>T (p.Ala101=) c.231C>T (p.Ala77=) | |
| 17 | g.39665909A= | CA2259200812 | TCAP | c.304A= (p.Thr102=) c.232A= (p.Thr78=) | |
| 17 | g.39665909A>C | CA399305005 | TCAP | c.304A>C (p.Thr102Pro) c.232A>C (p.Thr78Pro) | |
| 17 | g.39665909A>G | CA399305006 | TCAP | c.304A>G (p.Thr102Ala) c.232A>G (p.Thr78Ala) | dbSNP |
| 17 | g.39665909A>T | CA399305008 | TCAP | c.304A>T (p.Thr102Ser) c.232A>T (p.Thr78Ser) | |
| 17 | g.39665910C>A | CA399305012 | TCAP | c.305C>A (p.Thr102Asn) c.233C>A (p.Thr78Asn) | |
| 17 | g.39665910C= | CA2259200813 | TCAP | c.305C= (p.Thr102=) c.233C= (p.Thr78=) | |
| 17 | g.39665910C>G | CA399305015 | TCAP | c.305C>G (p.Thr102Ser) c.233C>G (p.Thr78Ser) | |
| 17 | g.39665910C>T | CA399305016 | TCAP | c.305C>T (p.Thr102Ile) c.233C>T (p.Thr78Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665911C>A | CA499889172 | TCAP | c.306C>A (p.Thr102=) c.234C>A (p.Thr78=) | |
| 17 | g.39665911C>G | CA499889173 | TCAP | c.306C>G (p.Thr102=) c.234C>G (p.Thr78=) | gnomAD v4 |
| 17 | g.39665911C>T | CA499889174 | TCAP | c.306C>T (p.Thr102=) c.234C>T (p.Thr78=) | |
| 17 | g.39665912A>C | CA399305019 | TCAP | c.307A>C (p.Lys103Gln) c.235A>C (p.Lys79Gln) | |
| 17 | g.39665912A>G | CA399305022 | TCAP | c.307A>G (p.Lys103Glu) c.235A>G (p.Lys79Glu) | |
| 17 | g.39665912A>T | CA399305035 | TCAP | c.307A>T (p.Lys103Ter) c.235A>T (p.Lys79Ter) | |
| 17 | g.39665912_39665915delinsAAGG | CA2259200814 | TCAP | c.307_310delinsAAGG (p.Lys103=) c.235_238delinsAAGG (p.Lys79=) | |
| 17 | g.39665913A>C | CA399305050 | TCAP | c.308A>C (p.Lys103Thr) c.236A>C (p.Lys79Thr) | |
| 17 | g.39665913A>G | CA399305038 | TCAP | c.308A>G (p.Lys103Arg) c.236A>G (p.Lys79Arg) | |
| 17 | g.39665913A>T | CA399305046 | TCAP | c.308A>T (p.Lys103Met) c.236A>T (p.Lys79Met) | |
| 17 | g.39665918_39665920del | CA8532895 | TCAP | c.313_315del (p.Glu105del) c.241_243del (p.Glu81del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665914G>A | CA499889175 | TCAP | c.309G>A (p.Lys103=) c.237G>A (p.Lys79=) | |
| 17 | g.39665914G>C | CA399305053 | TCAP | c.309G>C (p.Lys103Asn) c.237G>C (p.Lys79Asn) | |
| 17 | g.39665914G>T | CA399305055 | TCAP | c.309G>T (p.Lys103Asn) c.237G>T (p.Lys79Asn) | |
| 17 | g.39665915G>A | CA399305057 | TCAP | c.310G>A (p.Glu104Lys) c.238G>A (p.Glu80Lys) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665915G>C | CA399305058 | TCAP | c.310G>C (p.Glu104Gln) c.238G>C (p.Glu80Gln) | |
| 17 | g.39665915G>T | CA399305059 | TCAP | c.310G>T (p.Glu104Ter) c.238G>T (p.Glu80Ter) | gnomAD v4 |
| 17 | g.39665916A>C | CA399305060 | TCAP | c.311A>C (p.Glu104Ala) c.239A>C (p.Glu80Ala) | |
| 17 | g.39665916A>G | CA399305062 | TCAP | c.311A>G (p.Glu104Gly) c.239A>G (p.Glu80Gly) | |
| 17 | g.39665916A>T | CA399305063 | TCAP | c.311A>T (p.Glu104Val) c.239A>T (p.Glu80Val) | |
| 17 | g.39665917G>A | CA499889176 | TCAP | c.312G>A (p.Glu104=) c.240G>A (p.Glu80=) | |
| 17 | g.39665917G>C | CA399305065 | TCAP | c.312G>C (p.Glu104Asp) c.240G>C (p.Glu80Asp) | |
| 17 | g.39665917G>T | CA399305067 | TCAP | c.312G>T (p.Glu104Asp) c.240G>T (p.Glu80Asp) | |
| 17 | g.39665918G>A | CA8532896 | TCAP | c.313G>A (p.Glu105Lys) c.241G>A (p.Glu81Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665918G>C | CA302372 | TCAP | c.313G>C (p.Glu105Gln) c.241G>C (p.Glu81Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665918G= | CA2259200815 | TCAP | c.313G= (p.Glu105=) c.241G= (p.Glu81=) | |
| 17 | g.39665918G>T | CA399305069 | TCAP | c.313G>T (p.Glu105Ter) c.241G>T (p.Glu81Ter) | |
| 17 | g.39665919A>C | CA399305074 | TCAP | c.314A>C (p.Glu105Ala) c.242A>C (p.Glu81Ala) | gnomAD v4 |
| 17 | g.39665919A>G | CA399305073 | TCAP | c.314A>G (p.Glu105Gly) c.242A>G (p.Glu81Gly) | gnomAD v4 |
| 17 | g.39665919A>T | CA399305075 | TCAP | c.314A>T (p.Glu105Val) c.242A>T (p.Glu81Val) | |
| 17 | g.39665920G>A | CA499889177 | TCAP | c.315G>A (p.Glu105=) c.243G>A (p.Glu81=) | dbSNP |
| 17 | g.39665920G>C | CA399305077 | TCAP | c.315G>C (p.Glu105Asp) c.243G>C (p.Glu81Asp) | |
| 17 | g.39665920G= | CA2259200816 | TCAP | c.315G= (p.Glu105=) c.243G= (p.Glu81=) | |
| 17 | g.39665920G>T | CA399305079 | TCAP | c.315G>T (p.Glu105Asp) c.243G>T (p.Glu81Asp) | |
| 17 | g.39665921C>A | CA8532897 | TCAP | c.316C>A (p.Arg106Ser) c.244C>A (p.Arg82Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665921C= | CA2259200817 | TCAP | c.316C= (p.Arg106=) c.244C= (p.Arg82=) | |
| 17 | g.39665921C>G | CA399305083 | TCAP | c.316C>G (p.Arg106Gly) c.244C>G (p.Arg82Gly) | |
| 17 | g.39665921C>T | CA274805 | TCAP | c.316C>T (p.Arg106Cys) c.244C>T (p.Arg82Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665922G>A | CA8532898 | TCAP | c.317G>A (p.Arg106His) c.245G>A (p.Arg82His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665922G>C | CA399305091 | TCAP | c.317G>C (p.Arg106Pro) c.245G>C (p.Arg82Pro) | |
| 17 | g.39665922G= | CA2259200818 | TCAP | c.317G= (p.Arg106=) c.245G= (p.Arg82=) | |
| 17 | g.39665922G>T | CA399305094 | TCAP | c.317G>T (p.Arg106Leu) c.245G>T (p.Arg82Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665923T>A | CA499889180 | TCAP | c.318T>A (p.Arg106=) c.246T>A (p.Arg82=) | |
| 17 | g.39665923T>C | CA499889178 | TCAP | c.318T>C (p.Arg106=) c.246T>C (p.Arg82=) | dbSNP |
| 17 | g.39665923T>G | CA499889179 | TCAP | c.318T>G (p.Arg106=) c.246T>G (p.Arg82=) | |
| 17 | g.39665923T= | CA2259200819 | TCAP | c.318T= (p.Arg106=) c.246T= (p.Arg82=) | |
| 17 | g.39665924G>A | CA399305096 | TCAP | c.319G>A (p.Glu107Lys) c.247G>A (p.Glu83Lys) | |
| 17 | g.39665924G>C | CA399305100 | TCAP | c.319G>C (p.Glu107Gln) c.247G>C (p.Glu83Gln) | |
| 17 | g.39665924G>T | CA399305103 | TCAP | c.319G>T (p.Glu107Ter) c.247G>T (p.Glu83Ter) | |
| 17 | g.39665925A>C | CA399305106 | TCAP | c.320A>C (p.Glu107Ala) c.248A>C (p.Glu83Ala) | |
| 17 | g.39665925A>G | CA399305108 | TCAP | c.320A>G (p.Glu107Gly) c.248A>G (p.Glu83Gly) | |
| 17 | g.39665925A>T | CA399305111 | TCAP | c.320A>T (p.Glu107Val) c.248A>T (p.Glu83Val) | |
| 17 | g.39665926G>A | CA499889181 | TCAP | c.321G>A (p.Glu107=) c.249G>A (p.Glu83=) | |
| 17 | g.39665926G>C | CA399305115 | TCAP | c.321G>C (p.Glu107Asp) c.249G>C (p.Glu83Asp) | |
| 17 | g.39665926G>T | CA399305116 | TCAP | c.321G>T (p.Glu107Asp) c.249G>T (p.Glu83Asp) | |
| 17 | g.39665927G>A | CA399305117 | TCAP | c.322G>A (p.Asp108Asn) c.250G>A (p.Asp84Asn) | gnomAD v4 |
| 17 | g.39665927G>C | CA399305118 | TCAP | c.322G>C (p.Asp108His) c.250G>C (p.Asp84His) | |
| 17 | g.39665927G>T | CA399305119 | TCAP | c.322G>T (p.Asp108Tyr) c.250G>T (p.Asp84Tyr) | |
| 17 | g.39665928A= | CA2259200820 | TCAP | c.323A= (p.Asp108=) c.251A= (p.Asp84=) | |
| 17 | g.39665928A>C | CA399305120 | TCAP | c.323A>C (p.Asp108Ala) c.251A>C (p.Asp84Ala) | |
| 17 | g.39665928A>G | CA290434154 | TCAP | c.323A>G (p.Asp108Gly) c.251A>G (p.Asp84Gly) | dbSNP gnomAD v4 |
| 17 | g.39665928A>T | CA399305128 | TCAP | c.323A>T (p.Asp108Val) c.251A>T (p.Asp84Val) | |
| 17 | g.39665929C>A | CA399305131 | TCAP | c.324C>A (p.Asp108Glu) c.252C>A (p.Asp84Glu) | |
| 17 | g.39665929C= | CA2259200821 | TCAP | c.324C= (p.Asp108=) c.252C= (p.Asp84=) | |
| 17 | g.39665929C>G | CA399305134 | TCAP | c.324C>G (p.Asp108Glu) c.252C>G (p.Asp84Glu) | dbSNP |
| 17 | g.39665929C>T | CA499889185 | TCAP | c.324C>T (p.Asp108=) c.252C>T (p.Asp84=) | gnomAD v4 |
| 17 | g.39665930A= | CA2259200822 | TCAP | c.325A= (p.Thr109=) c.253A= (p.Thr85=) | |
| 17 | g.39665930A>C | CA399305136 | TCAP | c.325A>C (p.Thr109Pro) c.253A>C (p.Thr85Pro) | dbSNP |
| 17 | g.39665930A>G | CA8532899 | TCAP | c.325A>G (p.Thr109Ala) c.253A>G (p.Thr85Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39665930A>T | CA399305140 | TCAP | c.325A>T (p.Thr109Ser) c.253A>T (p.Thr85Ser) | |
| 17 | g.39665930_39665931delinsAC | CA2259200823 | TCAP | c.325_326delinsAC (p.Thr109=) c.253_254delinsAC (p.Thr85=) | |
| 17 | g.39665931C>A | CA399305147 | TCAP | c.326C>A (p.Thr109Asn) c.254C>A (p.Thr85Asn) | ClinVar |
| 17 | g.39665931C>G | CA399305146 | TCAP | c.326C>G (p.Thr109Ser) c.254C>G (p.Thr85Ser) | |
| 17 | g.39665931C>T | CA399305143 | TCAP | c.326C>T (p.Thr109Ile) c.254C>T (p.Thr85Ile) | COSMIC |
| 17 | g.39665935del | CA2259200824 | TCAP | c.330del (p.Ile111SerfsTer?) c.258del (p.Ile87SerfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.39665932C>A | CA499889187 | TCAP | c.327C>A (p.Thr109=) c.255C>A (p.Thr85=) | dbSNP |
| 17 | g.39665932C>G | CA499889188 | TCAP | c.327C>G (p.Thr109=) c.255C>G (p.Thr85=) | |
| 17 | g.39665932C>T | CA499889189 | TCAP | c.327C>T (p.Thr109=) c.255C>T (p.Thr85=) | gnomAD v4 |
| 17 | g.39665933C>A | CA399305148 | TCAP | c.328C>A (p.Pro110Thr) c.256C>A (p.Pro86Thr) | dbSNP gnomAD v2 |
| 17 | g.39665933C= | CA2259200825 | TCAP | c.328C= (p.Pro110=) c.256C= (p.Pro86=) | |
| 17 | g.39665933C>G | CA399305149 | TCAP | c.328C>G (p.Pro110Ala) c.256C>G (p.Pro86Ala) | gnomAD v4 |
| 17 | g.39665933C>T | CA399305150 | TCAP | c.328C>T (p.Pro110Ser) c.256C>T (p.Pro86Ser) | |
| 17 | g.39665934C>A | CA399305154 | TCAP | c.329C>A (p.Pro110His) c.257C>A (p.Pro86His) | |
| 17 | g.39665934C= | CA2259200826 | TCAP | c.329C= (p.Pro110=) c.257C= (p.Pro86=) | |
| 17 | g.39665934C>G | CA399305156 | TCAP | c.329C>G (p.Pro110Arg) c.257C>G (p.Pro86Arg) | |
| 17 | g.39665934C>T | CA399305159 | TCAP | c.329C>T (p.Pro110Leu) c.257C>T (p.Pro86Leu) | dbSNP |
| 17 | g.39665935C>A | CA499889193 | TCAP | c.330C>A (p.Pro110=) c.258C>A (p.Pro86=) | ClinVar dbSNP |
| 17 | g.39665935C>G | CA499889194 | TCAP | c.330C>G (p.Pro110=) c.258C>G (p.Pro86=) | |
| 17 | g.39665935C>T | CA499889195 | TCAP | c.330C>T (p.Pro110=) c.258C>T (p.Pro86=) | |
| 17 | g.39665936A= | CA2259200827 | TCAP | c.331A= (p.Ile111=) c.259A= (p.Ile87=) | |
| 17 | g.39665936A>C | CA399305168 | TCAP | c.331A>C (p.Ile111Leu) c.259A>C (p.Ile87Leu) | ClinVar dbSNP |
| 17 | g.39665936A>G | CA399305163 | TCAP | c.331A>G (p.Ile111Val) c.259A>G (p.Ile87Val) | |
| 17 | g.39665936A>T | CA399305165 | TCAP | c.331A>T (p.Ile111Phe) c.259A>T (p.Ile87Phe) | |
| 17 | g.39665937T>A | CA399305174 | TCAP | c.332T>A (p.Ile111Asn) c.260T>A (p.Ile87Asn) | |
| 17 | g.39665937T>C | CA399305183 | TCAP | c.332T>C (p.Ile111Thr) c.260T>C (p.Ile87Thr) | gnomAD v4 |
| 17 | g.39665937T>G | CA399305185 | TCAP | c.332T>G (p.Ile111Ser) c.260T>G (p.Ile87Ser) | |
| 17 | g.39665937dup | CA8532900 | TCAP | c.332dup (p.Gln112ProfsTer24) c.260dup (p.Gln88ProfsTer24) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665938C>A | CA499889198 | TCAP | c.333C>A (p.Ile111=) c.261C>A (p.Ile87=) | |
| 17 | g.39665938C= | CA2259200828 | TCAP | c.333C= (p.Ile111=) c.261C= (p.Ile87=) | |
| 17 | g.39665938C>G | CA399305189 | TCAP | c.333C>G (p.Ile111Met) c.261C>G (p.Ile87Met) | |
| 17 | g.39665938C>T | CA290434156 | TCAP | c.333C>T (p.Ile111=) c.261C>T (p.Ile87=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665939C>A | CA399305197 | TCAP | c.334C>A (p.Gln112Lys) c.262C>A (p.Gln88Lys) | |
| 17 | g.39665939C= | CA2259200829 | TCAP | c.334C= (p.Gln112=) c.262C= (p.Gln88=) | |
| 17 | g.39665939C>G | CA399305202 | TCAP | c.334C>G (p.Gln112Glu) c.262C>G (p.Gln88Glu) | |
| 17 | g.39665939C>T | CA308823 | TCAP | c.334C>T (p.Gln112Ter) c.262C>T (p.Gln88Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.39665940A= | CA2259200830 | TCAP | c.335A= (p.Gln112=) c.263A= (p.Gln88=) | |
| 17 | g.39665940A>C | CA399305204 | TCAP | c.335A>C (p.Gln112Pro) c.263A>C (p.Gln88Pro) | |
| 17 | g.39665940A>G | CA399305206 | TCAP | c.335A>G (p.Gln112Arg) c.263A>G (p.Gln88Arg) | dbSNP gnomAD v4 |
| 17 | g.39665940A>T | CA399305209 | TCAP | c.335A>T (p.Gln112Leu) c.263A>T (p.Gln88Leu) | |
| 17 | g.39665941G>A | CA499889201 | TCAP | c.336G>A (p.Gln112=) c.264G>A (p.Gln88=) | |
| 17 | g.39665941G>C | CA399305211 | TCAP | c.336G>C (p.Gln112His) c.264G>C (p.Gln88His) | |
| 17 | g.39665941G>T | CA399305214 | TCAP | c.336G>T (p.Gln112His) c.264G>T (p.Gln88His) | |
| 17 | g.39665942C>A | CA399305217 | TCAP | c.337C>A (p.Leu113Ile) c.265C>A (p.Leu89Ile) | |
| 17 | g.39665942C= | CA2259200831 | TCAP | c.337C= (p.Leu113=) c.265C= (p.Leu89=) | |
| 17 | g.39665942C>G | CA399305220 | TCAP | c.337C>G (p.Leu113Val) c.265C>G (p.Leu89Val) | |
| 17 | g.39665942C>T | CA183562 | TCAP | c.337C>T (p.Leu113Phe) c.265C>T (p.Leu89Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665943T>A | CA399305224 | TCAP | c.338T>A (p.Leu113His) c.266T>A (p.Leu89His) | |
| 17 | g.39665943T>C | CA399305228 | TCAP | c.338T>C (p.Leu113Pro) c.266T>C (p.Leu89Pro) | |
| 17 | g.39665943T>G | CA399305235 | TCAP | c.338T>G (p.Leu113Arg) c.266T>G (p.Leu89Arg) | |
| 17 | g.39665944T>A | CA499889205 | TCAP | c.339T>A (p.Leu113=) c.267T>A (p.Leu89=) | |
| 17 | g.39665944T>C | CA499889207 | TCAP | c.339T>C (p.Leu113=) c.267T>C (p.Leu89=) | |
| 17 | g.39665944T>G | CA499889206 | TCAP | c.339T>G (p.Leu113=) c.267T>G (p.Leu89=) | dbSNP |
| 17 | g.39665944T= | CA2259200832 | TCAP | c.339T= (p.Leu113=) c.267T= (p.Leu89=) | |
| 17 | g.39665945C>A | CA399305243 | TCAP | c.340C>A (p.Gln114Lys) c.268C>A (p.Gln90Lys) | |
| 17 | g.39665945C>G | CA399305241 | TCAP | c.340C>G (p.Gln114Glu) c.268C>G (p.Gln90Glu) | |
| 17 | g.39665945C>T | CA399305238 | TCAP | c.340C>T (p.Gln114Ter) c.268C>T (p.Gln90Ter) | |
| 17 | g.39665946A= | CA2259200833 | TCAP | c.341A= (p.Gln114=) c.269A= (p.Gln90=) | |
| 17 | g.39665946A>C | CA399305247 | TCAP | c.341A>C (p.Gln114Pro) c.269A>C (p.Gln90Pro) | |
| 17 | g.39665946A>G | CA399305254 | TCAP | c.341A>G (p.Gln114Arg) c.269A>G (p.Gln90Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665946A>T | CA399305249 | TCAP | c.341A>T (p.Gln114Leu) c.269A>T (p.Gln90Leu) | |
| 17 | g.39665947G>A | CA499889211 | TCAP | c.342G>A (p.Gln114=) c.270G>A (p.Gln90=) | |
| 17 | g.39665947G>C | CA399305258 | TCAP | c.342G>C (p.Gln114His) c.270G>C (p.Gln90His) | |
| 17 | g.39665947G>T | CA399305260 | TCAP | c.342G>T (p.Gln114His) c.270G>T (p.Gln90His) | |
| 17 | g.39665948G>A | CA16615341 | TCAP | c.343G>A (p.Glu115Lys) c.271G>A (p.Glu91Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665948G>C | CA399305264 | TCAP | c.343G>C (p.Glu115Gln) c.271G>C (p.Glu91Gln) | |
| 17 | g.39665948G= | CA2259200834 | TCAP | c.343G= (p.Glu115=) c.271G= (p.Glu91=) | |
| 17 | g.39665948G>T | CA399305265 | TCAP | c.343G>T (p.Glu115Ter) c.271G>T (p.Glu91Ter) | |
| 17 | g.39665949A= | CA2259200835 | TCAP | c.344A= (p.Glu115=) c.272A= (p.Glu91=) | |
| 17 | g.39665949A>C | CA399305269 | TCAP | c.344A>C (p.Glu115Ala) c.272A>C (p.Glu91Ala) | |
| 17 | g.39665949A>G | CA399305278 | TCAP | c.344A>G (p.Glu115Gly) c.272A>G (p.Glu91Gly) | dbSNP |
| 17 | g.39665949A>T | CA399305281 | TCAP | c.344A>T (p.Glu115Val) c.272A>T (p.Glu91Val) | ClinVar dbSNP |
| 17 | g.39665950G>A | CA499889215 | TCAP | c.345G>A (p.Glu115=) c.273G>A (p.Glu91=) | |
| 17 | g.39665950G>C | CA399305283 | TCAP | c.345G>C (p.Glu115Asp) c.273G>C (p.Glu91Asp) | |
| 17 | g.39665950G>T | CA399305284 | TCAP | c.345G>T (p.Glu115Asp) c.273G>T (p.Glu91Asp) | dbSNP |
| 17 | g.39665951C>A | CA399305286 | TCAP | c.346C>A (p.Leu116Met) c.274C>A (p.Leu92Met) | dbSNP |
| 17 | g.39665951C= | CA2259200836 | TCAP | c.346C= (p.Leu116=) c.274C= (p.Leu92=) | |
| 17 | g.39665951C>G | CA399305285 | TCAP | c.346C>G (p.Leu116Val) c.274C>G (p.Leu92Val) | |
| 17 | g.39665951C>T | CA10577040 | TCAP | c.346C>T (p.Leu116=) c.274C>T (p.Leu92=) | ClinVar dbSNP COSMIC |
| 17 | g.39665952T>A | CA399305287 | TCAP | c.347T>A (p.Leu116Gln) c.275T>A (p.Leu92Gln) | |
| 17 | g.39665952T>C | CA399305288 | TCAP | c.347T>C (p.Leu116Pro) c.275T>C (p.Leu92Pro) | |
| 17 | g.39665952T>G | CA399305289 | TCAP | c.347T>G (p.Leu116Arg) c.275T>G (p.Leu92Arg) | |
| 17 | g.39665953G>A | CA499889217 | TCAP | c.348G>A (p.Leu116=) c.276G>A (p.Leu92=) | dbSNP |
| 17 | g.39665953G>C | CA499889218 | TCAP | c.348G>C (p.Leu116=) c.276G>C (p.Leu92=) | dbSNP |
| 17 | g.39665953G>T | CA499889219 | TCAP | c.348G>T (p.Leu116=) c.276G>T (p.Leu92=) | dbSNP gnomAD v4 |
| 17 | g.39665954C>A | CA399305290 | TCAP | c.349C>A (p.Leu117Met) c.277C>A (p.Leu93Met) | dbSNP |
| 17 | g.39665954C= | CA2259200837 | TCAP | c.349C= (p.Leu117=) c.277C= (p.Leu93=) | |
| 17 | g.39665954C>G | CA399305291 | TCAP | c.349C>G (p.Leu117Val) c.277C>G (p.Leu93Val) | |
| 17 | g.39665954C>T | CA10587267 | TCAP | c.349C>T (p.Leu117=) c.277C>T (p.Leu93=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665955T>A | CA399305292 | TCAP | c.350T>A (p.Leu117Gln) c.278T>A (p.Leu93Gln) | |
| 17 | g.39665955T>C | CA399305293 | TCAP | c.350T>C (p.Leu117Pro) c.278T>C (p.Leu93Pro) | |
| 17 | g.39665955T>G | CA399305294 | TCAP | c.350T>G (p.Leu117Arg) c.278T>G (p.Leu93Arg) | |
| 17 | g.39665956G>A | CA499889221 | TCAP | c.351G>A (p.Leu117=) c.279G>A (p.Leu93=) | dbSNP gnomAD v4 |
| 17 | g.39665956G>C | CA499889222 | TCAP | c.351G>C (p.Leu117=) c.279G>C (p.Leu93=) | |
| 17 | g.39665956G>T | CA499889223 | TCAP | c.351G>T (p.Leu117=) c.279G>T (p.Leu93=) | |
| 17 | g.39665957G>A | CA399305295 | TCAP | c.352G>A (p.Ala118Thr) c.280G>A (p.Ala94Thr) | dbSNP |
| 17 | g.39665957G>C | CA399305296 | TCAP | c.352G>C (p.Ala118Pro) c.280G>C (p.Ala94Pro) | dbSNP |
| 17 | g.39665957G>T | CA399305297 | TCAP | c.352G>T (p.Ala118Ser) c.280G>T (p.Ala94Ser) | |
| 17 | g.39665958C>A | CA399305298 | TCAP | c.353C>A (p.Ala118Glu) c.281C>A (p.Ala94Glu) | ClinVar dbSNP |
| 17 | g.39665958C= | CA2259200838 | TCAP | c.353C= (p.Ala118=) c.281C= (p.Ala94=) | |
| 17 | g.39665958C>G | CA399305299 | TCAP | c.353C>G (p.Ala118Gly) c.281C>G (p.Ala94Gly) | |
| 17 | g.39665958C>T | CA308826 | TCAP | c.353C>T (p.Ala118Val) c.281C>T (p.Ala94Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39665959G>A | CA499889226 | TCAP | c.354G>A (p.Ala118=) c.282G>A (p.Ala94=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665959G>C | CA499889227 | TCAP | c.354G>C (p.Ala118=) c.282G>C (p.Ala94=) | ClinVar dbSNP |
| 17 | g.39665959G= | CA2259200839 | TCAP | c.354G= (p.Ala118=) c.282G= (p.Ala94=) | |
| 17 | g.39665959G>T | CA499889228 | TCAP | c.354G>T (p.Ala118=) c.282G>T (p.Ala94=) | ClinVar dbSNP COSMIC |
| 17 | g.39665960C>A | CA399305300 | TCAP | c.355C>A (p.Leu119Met) c.283C>A (p.Leu95Met) | |
| 17 | g.39665960C>G | CA399305301 | TCAP | c.355C>G (p.Leu119Val) c.283C>G (p.Leu95Val) | |
| 17 | g.39665960C>T | CA499889229 | TCAP | c.355C>T (p.Leu119=) c.283C>T (p.Leu95=) | dbSNP |
| 17 | g.39665961T>A | CA399305302 | TCAP | c.356T>A (p.Leu119Gln) c.284T>A (p.Leu95Gln) | |
| 17 | g.39665961T>C | CA399305304 | TCAP | c.356T>C (p.Leu119Pro) c.284T>C (p.Leu95Pro) | |
| 17 | g.39665961T>G | CA399305306 | TCAP | c.356T>G (p.Leu119Arg) c.284T>G (p.Leu95Arg) | dbSNP |
| 17 | g.39665962G>A | CA499889233 | TCAP | c.357G>A (p.Leu119=) c.285G>A (p.Leu95=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39665962G>C | CA499889235 | TCAP | c.357G>C (p.Leu119=) c.285G>C (p.Leu95=) | |
| 17 | g.39665962G= | CA2259200840 | TCAP | c.357G= (p.Leu119=) c.285G= (p.Leu95=) | |
| 17 | g.39665962G>T | CA499889234 | TCAP | c.357G>T (p.Leu119=) c.285G>T (p.Leu95=) | |
| 17 | g.39665963G>A | CA399305308 | TCAP | c.358G>A (p.Glu120Lys) c.286G>A (p.Glu96Lys) | |
| 17 | g.39665963G>C | CA399305311 | TCAP | c.358G>C (p.Glu120Gln) c.286G>C (p.Glu96Gln) | dbSNP |
| 17 | g.39665963G>T | CA399305313 | TCAP | c.358G>T (p.Glu120Ter) c.286G>T (p.Glu96Ter) | dbSNP |
| 17 | g.39665965_39665966del | CA2580613273 | TCAP | c.360_361del (p.Glu120AspfsTer15) c.288_289del (p.Glu96AspfsTer15) | ClinVar |
| 17 | g.39665964A>C | CA399305315 | TCAP | c.359A>C (p.Glu120Ala) c.287A>C (p.Glu96Ala) | |
| 17 | g.39665964A>G | CA399305317 | TCAP | c.359A>G (p.Glu120Gly) c.287A>G (p.Glu96Gly) | dbSNP |
| 17 | g.39665964A>T | CA399305319 | TCAP | c.359A>T (p.Glu120Val) c.287A>T (p.Glu96Val) | dbSNP |
| 17 | g.39665965G>A | CA499889239 | TCAP | c.360G>A (p.Glu120=) c.288G>A (p.Glu96=) | dbSNP gnomAD v4 |
| 17 | g.39665965G>C | CA399305322 | TCAP | c.360G>C (p.Glu120Asp) c.288G>C (p.Glu96Asp) | |
| 17 | g.39665965G>T | CA399305324 | TCAP | c.360G>T (p.Glu120Asp) c.288G>T (p.Glu96Asp) | |
| 17 | g.39665965_39665966delinsGA | CA2259200841 | TCAP | c.360_361delinsGA (p.Glu120=) c.288_289delinsGA (p.Glu96=) | |
| 17 | g.39665966del | CA771858472 | TCAP | c.361del (p.Thr121GlnfsTer?) c.289del (p.Thr97GlnfsTer?) | dbSNP |
| 17 | g.39665966A>C | CA399305332 | TCAP | c.361A>C (p.Thr121Pro) c.289A>C (p.Thr97Pro) | |
| 17 | g.39665966A>G | CA399305328 | TCAP | c.361A>G (p.Thr121Ala) c.289A>G (p.Thr97Ala) | dbSNP |
| 17 | g.39665966A>T | CA399305326 | TCAP | c.361A>T (p.Thr121Ser) c.289A>T (p.Thr97Ser) | dbSNP |
| 17 | g.39665966_39665967delinsAC | CA2259200842 | TCAP | c.361_362delinsAC (p.Thr121=) c.289_290delinsAC (p.Thr97=) | |
| 17 | g.39665967del | CA919838668 | TCAP | c.362del (p.Thr121LysfsTer?) c.290del (p.Thr97LysfsTer?) | dbSNP gnomAD v4 |
| 17 | g.39665967C>A | CA399305334 | TCAP | c.362C>A (p.Thr121Lys) c.290C>A (p.Thr97Lys) | dbSNP |
| 17 | g.39665967C>G | CA399305335 | TCAP | c.362C>G (p.Thr121Arg) c.290C>G (p.Thr97Arg) | dbSNP |
| 17 | g.39665967C>T | CA399305336 | TCAP | c.362C>T (p.Thr121Ile) c.290C>T (p.Thr97Ile) | dbSNP |
| 17 | g.39665968A>C | CA499889243 | TCAP | c.363A>C (p.Thr121=) c.291A>C (p.Thr97=) | |
| 17 | g.39665968A>G | CA499889244 | TCAP | c.363A>G (p.Thr121=) c.291A>G (p.Thr97=) | dbSNP |
| 17 | g.39665968A>T | CA499889245 | TCAP | c.363A>T (p.Thr121=) c.291A>T (p.Thr97=) | dbSNP |