| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.74525217A= | CA1920088244 | ADK | c.556-39A= (n.556-39A=) c.505-39A= (n.505-39A=) c.280-39A= (n.280-39A=) c.556-64065A= (n.556-64065A=) c.296-39A= c.*301-39A= (n.*301-39A=) c.451-39A= (n.451-39A=) n.259+2549T= c.472-39A= (n.472-39A=) c.361-39A= (n.361-39A=) c.505-64065A= (n.505-64065A=) | |
| 10 | g.74525217A>T | CA5563993 | ADK | c.556-39A>T (n.556-39A>T) c.505-39A>T (n.505-39A>T) c.280-39A>T (n.280-39A>T) c.556-64065A>T (n.556-64065A>T) c.296-39A>T c.*301-39A>T (n.*301-39A>T) c.451-39A>T (n.451-39A>T) n.259+2549T>A c.472-39A>T (n.472-39A>T) c.361-39A>T (n.361-39A>T) c.505-64065A>T (n.505-64065A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525218T>C | CA2609737816 | ADK | c.556-38T>C (n.556-38T>C) c.505-38T>C (n.505-38T>C) c.280-38T>C (n.280-38T>C) c.556-64064T>C (n.556-64064T>C) c.296-38T>C c.*301-38T>C (n.*301-38T>C) c.451-38T>C (n.451-38T>C) n.259+2548A>G c.472-38T>C (n.472-38T>C) c.361-38T>C (n.361-38T>C) c.505-64064T>C (n.505-64064T>C) | gnomAD v4 |
| 10 | g.74525219G>A | CA209874915 | ADK | c.556-37G>A (n.556-37G>A) c.505-37G>A (n.505-37G>A) c.280-37G>A (n.280-37G>A) c.556-64063G>A (n.556-64063G>A) c.296-37G>A c.*301-37G>A (n.*301-37G>A) c.451-37G>A (n.451-37G>A) n.259+2547C>T c.472-37G>A (n.472-37G>A) c.361-37G>A (n.361-37G>A) c.505-64063G>A (n.505-64063G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525219G>C | CA2609737817 | ADK | c.556-37G>C (n.556-37G>C) c.505-37G>C (n.505-37G>C) c.280-37G>C (n.280-37G>C) c.556-64063G>C (n.556-64063G>C) c.296-37G>C c.*301-37G>C (n.*301-37G>C) c.451-37G>C (n.451-37G>C) n.259+2547C>G c.472-37G>C (n.472-37G>C) c.361-37G>C (n.361-37G>C) c.505-64063G>C (n.505-64063G>C) | gnomAD v4 |
| 10 | g.74525219G= | CA1920088246 | ADK | c.556-37G= (n.556-37G=) c.505-37G= (n.505-37G=) c.280-37G= (n.280-37G=) c.556-64063G= (n.556-64063G=) c.296-37G= c.*301-37G= (n.*301-37G=) c.451-37G= (n.451-37G=) n.259+2547C= c.472-37G= (n.472-37G=) c.361-37G= (n.361-37G=) c.505-64063G= (n.505-64063G=) | |
| 10 | g.74525220G= | CA1920088248 | ADK | c.556-36G= (n.556-36G=) c.505-36G= (n.505-36G=) c.280-36G= (n.280-36G=) c.556-64062G= (n.556-64062G=) c.296-36G= c.*301-36G= (n.*301-36G=) c.451-36G= (n.451-36G=) n.259+2546C= c.472-36G= (n.472-36G=) c.361-36G= (n.361-36G=) c.505-64062G= (n.505-64062G=) | |
| 10 | g.74525220G>T | CA668357093 | ADK | c.556-36G>T (n.556-36G>T) c.505-36G>T (n.505-36G>T) c.280-36G>T (n.280-36G>T) c.556-64062G>T (n.556-64062G>T) c.296-36G>T c.*301-36G>T (n.*301-36G>T) c.451-36G>T (n.451-36G>T) n.259+2546C>A c.472-36G>T (n.472-36G>T) c.361-36G>T (n.361-36G>T) c.505-64062G>T (n.505-64062G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525221T>C | CA2609737819 | ADK | c.556-35T>C (n.556-35T>C) c.505-35T>C (n.505-35T>C) c.280-35T>C (n.280-35T>C) c.556-64061T>C (n.556-64061T>C) c.296-35T>C c.*301-35T>C (n.*301-35T>C) c.451-35T>C (n.451-35T>C) n.259+2545A>G c.472-35T>C (n.472-35T>C) c.361-35T>C (n.361-35T>C) c.505-64061T>C (n.505-64061T>C) | dbSNP gnomAD v4 |
| 10 | g.74525221T>G | CA5563994 | ADK | c.556-35T>G (n.556-35T>G) c.505-35T>G (n.505-35T>G) c.280-35T>G (n.280-35T>G) c.556-64061T>G (n.556-64061T>G) c.296-35T>G c.*301-35T>G (n.*301-35T>G) c.451-35T>G (n.451-35T>G) n.259+2545A>C c.472-35T>G (n.472-35T>G) c.361-35T>G (n.361-35T>G) c.505-64061T>G (n.505-64061T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525221T= | CA1920088251 | ADK | c.556-35T= (n.556-35T=) c.505-35T= (n.505-35T=) c.280-35T= (n.280-35T=) c.556-64061T= (n.556-64061T=) c.296-35T= c.*301-35T= (n.*301-35T=) c.451-35T= (n.451-35T=) n.259+2545A= c.472-35T= (n.472-35T=) c.361-35T= (n.361-35T=) c.505-64061T= (n.505-64061T=) | |
| 10 | g.74525221dup | CA2609737818 | ADK | c.556-35dup (n.556-35dup) c.505-35dup (n.505-35dup) c.280-35dup (n.280-35dup) c.556-64061dup (n.556-64061dup) c.296-35dup c.*301-35dup (n.*301-35dup) c.451-35dup (n.451-35dup) n.259+2545dup c.472-35dup (n.472-35dup) c.361-35dup (n.361-35dup) c.505-64061dup (n.505-64061dup) | gnomAD v4 |
| 10 | g.74525222A= | CA1920088255 | ADK | c.556-34A= (n.556-34A=) c.505-34A= (n.505-34A=) c.280-34A= (n.280-34A=) c.556-64060A= (n.556-64060A=) c.296-34A= c.*301-34A= (n.*301-34A=) c.451-34A= (n.451-34A=) n.259+2544T= c.472-34A= (n.472-34A=) c.361-34A= (n.361-34A=) c.505-64060A= (n.505-64060A=) | |
| 10 | g.74525222A>G | CA5563995 | ADK | c.556-34A>G (n.556-34A>G) c.505-34A>G (n.505-34A>G) c.280-34A>G (n.280-34A>G) c.556-64060A>G (n.556-64060A>G) c.296-34A>G c.*301-34A>G (n.*301-34A>G) c.451-34A>G (n.451-34A>G) n.259+2544T>C c.472-34A>G (n.472-34A>G) c.361-34A>G (n.361-34A>G) c.505-64060A>G (n.505-64060A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525222A>T | CA2609737820 | ADK | c.556-34A>T (n.556-34A>T) c.505-34A>T (n.505-34A>T) c.280-34A>T (n.280-34A>T) c.556-64060A>T (n.556-64060A>T) c.296-34A>T c.*301-34A>T (n.*301-34A>T) c.451-34A>T (n.451-34A>T) n.259+2544T>A c.472-34A>T (n.472-34A>T) c.361-34A>T (n.361-34A>T) c.505-64060A>T (n.505-64060A>T) | gnomAD v4 |
| 10 | g.74525223T>G | CA209874916 | ADK | c.556-33T>G (n.556-33T>G) c.505-33T>G (n.505-33T>G) c.280-33T>G (n.280-33T>G) c.556-64059T>G (n.556-64059T>G) c.296-33T>G c.*301-33T>G (n.*301-33T>G) c.451-33T>G (n.451-33T>G) n.259+2543A>C c.472-33T>G (n.472-33T>G) c.361-33T>G (n.361-33T>G) c.505-64059T>G (n.505-64059T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525223T= | CA1920088259 | ADK | c.556-33T= (n.556-33T=) c.505-33T= (n.505-33T=) c.280-33T= (n.280-33T=) c.556-64059T= (n.556-64059T=) c.296-33T= c.*301-33T= (n.*301-33T=) c.451-33T= (n.451-33T=) n.259+2543A= c.472-33T= (n.472-33T=) c.361-33T= (n.361-33T=) c.505-64059T= (n.505-64059T=) | |
| 10 | g.74525228A>G | CA2609737821 | ADK | c.556-28A>G (n.556-28A>G) c.505-28A>G (n.505-28A>G) c.280-28A>G (n.280-28A>G) c.556-64054A>G (n.556-64054A>G) c.296-28A>G c.*301-28A>G (n.*301-28A>G) c.451-28A>G (n.451-28A>G) n.259+2538T>C c.472-28A>G (n.472-28A>G) c.361-28A>G (n.361-28A>G) c.505-64054A>G (n.505-64054A>G) | gnomAD v4 |
| 10 | g.74525231T>A | CA1920088262 | ADK | c.556-25T>A (n.556-25T>A) c.505-25T>A (n.505-25T>A) c.280-25T>A (n.280-25T>A) c.556-64051T>A (n.556-64051T>A) c.296-25T>A c.*301-25T>A (n.*301-25T>A) c.451-25T>A (n.451-25T>A) n.259+2535A>T c.472-25T>A (n.472-25T>A) c.361-25T>A (n.361-25T>A) c.505-64051T>A (n.505-64051T>A) | dbSNP |
| 10 | g.74525231T= | CA1920088261 | ADK | c.556-25T= (n.556-25T=) c.505-25T= (n.505-25T=) c.280-25T= (n.280-25T=) c.556-64051T= (n.556-64051T=) c.296-25T= c.*301-25T= (n.*301-25T=) c.451-25T= (n.451-25T=) n.259+2535A= c.472-25T= (n.472-25T=) c.361-25T= (n.361-25T=) c.505-64051T= (n.505-64051T=) | |
| 10 | g.74525234C= | CA1920088265 | ADK | c.556-22C= (n.556-22C=) c.505-22C= (n.505-22C=) c.280-22C= (n.280-22C=) c.556-64048C= (n.556-64048C=) c.296-22C= c.*301-22C= (n.*301-22C=) c.451-22C= (n.451-22C=) n.259+2532G= c.472-22C= (n.472-22C=) c.361-22C= (n.361-22C=) c.505-64048C= (n.505-64048C=) | |
| 10 | g.74525234C>G | CA668357095 | ADK | c.556-22C>G (n.556-22C>G) c.505-22C>G (n.505-22C>G) c.280-22C>G (n.280-22C>G) c.556-64048C>G (n.556-64048C>G) c.296-22C>G c.*301-22C>G (n.*301-22C>G) c.451-22C>G (n.451-22C>G) n.259+2532G>C c.472-22C>G (n.472-22C>G) c.361-22C>G (n.361-22C>G) c.505-64048C>G (n.505-64048C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525234C>T | CA1920088267 | ADK | c.556-22C>T (n.556-22C>T) c.505-22C>T (n.505-22C>T) c.280-22C>T (n.280-22C>T) c.556-64048C>T (n.556-64048C>T) c.296-22C>T c.*301-22C>T (n.*301-22C>T) c.451-22C>T (n.451-22C>T) n.259+2532G>A c.472-22C>T (n.472-22C>T) c.361-22C>T (n.361-22C>T) c.505-64048C>T (n.505-64048C>T) | dbSNP |
| 10 | g.74525235C= | CA1920088270 | ADK | c.556-21C= (n.556-21C=) c.505-21C= (n.505-21C=) c.280-21C= (n.280-21C=) c.556-64047C= (n.556-64047C=) c.296-21C= c.*301-21C= (n.*301-21C=) c.451-21C= (n.451-21C=) n.259+2531G= c.472-21C= (n.472-21C=) c.361-21C= (n.361-21C=) c.505-64047C= (n.505-64047C=) | |
| 10 | g.74525235C>G | CA2609737822 | ADK | c.556-21C>G (n.556-21C>G) c.505-21C>G (n.505-21C>G) c.280-21C>G (n.280-21C>G) c.556-64047C>G (n.556-64047C>G) c.296-21C>G c.*301-21C>G (n.*301-21C>G) c.451-21C>G (n.451-21C>G) n.259+2531G>C c.472-21C>G (n.472-21C>G) c.361-21C>G (n.361-21C>G) c.505-64047C>G (n.505-64047C>G) | gnomAD v4 |
| 10 | g.74525235C>T | CA5563996 | ADK | c.556-21C>T (n.556-21C>T) c.505-21C>T (n.505-21C>T) c.280-21C>T (n.280-21C>T) c.556-64047C>T (n.556-64047C>T) c.296-21C>T c.*301-21C>T (n.*301-21C>T) c.451-21C>T (n.451-21C>T) n.259+2531G>A c.472-21C>T (n.472-21C>T) c.361-21C>T (n.361-21C>T) c.505-64047C>T (n.505-64047C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525236C>T | CA2609737823 | ADK | c.556-20C>T (n.556-20C>T) c.505-20C>T (n.505-20C>T) c.280-20C>T (n.280-20C>T) c.556-64046C>T (n.556-64046C>T) c.296-20C>T c.*301-20C>T (n.*301-20C>T) c.451-20C>T (n.451-20C>T) n.259+2530G>A c.472-20C>T (n.472-20C>T) c.361-20C>T (n.361-20C>T) c.505-64046C>T (n.505-64046C>T) | gnomAD v4 |
| 10 | g.74525238C>A | CA594712311 | ADK | c.556-18C>A (n.556-18C>A) c.505-18C>A (n.505-18C>A) c.280-18C>A (n.280-18C>A) c.556-64044C>A (n.556-64044C>A) c.296-18C>A c.*301-18C>A (n.*301-18C>A) c.451-18C>A (n.451-18C>A) n.259+2528G>T c.472-18C>A (n.472-18C>A) c.361-18C>A (n.361-18C>A) c.505-64044C>A (n.505-64044C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.74525238C= | CA1920088273 | ADK | c.556-18C= (n.556-18C=) c.505-18C= (n.505-18C=) c.280-18C= (n.280-18C=) c.556-64044C= (n.556-64044C=) c.296-18C= c.*301-18C= (n.*301-18C=) c.451-18C= (n.451-18C=) n.259+2528G= c.472-18C= (n.472-18C=) c.361-18C= (n.361-18C=) c.505-64044C= (n.505-64044C=) | |
| 10 | g.74525239C= | CA1920088275 | ADK | c.556-17C= (n.556-17C=) c.505-17C= (n.505-17C=) c.280-17C= (n.280-17C=) c.556-64043C= (n.556-64043C=) c.296-17C= c.*301-17C= (n.*301-17C=) c.451-17C= (n.451-17C=) n.259+2527G= c.472-17C= (n.472-17C=) c.361-17C= (n.361-17C=) c.505-64043C= (n.505-64043C=) | |
| 10 | g.74525239C>G | CA2788559131 | ADK | c.556-17C>G (n.556-17C>G) c.505-17C>G (n.505-17C>G) c.280-17C>G (n.280-17C>G) c.556-64043C>G (n.556-64043C>G) c.296-17C>G c.*301-17C>G (n.*301-17C>G) c.451-17C>G (n.451-17C>G) n.259+2527G>C c.472-17C>G (n.472-17C>G) c.361-17C>G (n.361-17C>G) c.505-64043C>G (n.505-64043C>G) | |
| 10 | g.74525239C>T | CA2609737824 | ADK | c.556-17C>T (n.556-17C>T) c.505-17C>T (n.505-17C>T) c.280-17C>T (n.280-17C>T) c.556-64043C>T (n.556-64043C>T) c.296-17C>T c.*301-17C>T (n.*301-17C>T) c.451-17C>T (n.451-17C>T) n.259+2527G>A c.472-17C>T (n.472-17C>T) c.361-17C>T (n.361-17C>T) c.505-64043C>T (n.505-64043C>T) | gnomAD v4 |
| 10 | g.74525245dup | CA668357104 | ADK | c.556-11dup (n.556-11dup) c.505-11dup (n.505-11dup) c.280-11dup (n.280-11dup) c.556-64037dup (n.556-64037dup) c.296-11dup c.*301-11dup (n.*301-11dup) c.451-11dup (n.451-11dup) n.259+2526dup c.472-11dup (n.472-11dup) c.361-11dup (n.361-11dup) c.505-64037dup (n.505-64037dup) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525241T>G | CA2788559132 | ADK | c.556-15T>G (n.556-15T>G) c.505-15T>G (n.505-15T>G) c.280-15T>G (n.280-15T>G) c.556-64041T>G (n.556-64041T>G) c.296-15T>G c.*301-15T>G (n.*301-15T>G) c.451-15T>G (n.451-15T>G) n.259+2525A>C c.472-15T>G (n.472-15T>G) c.361-15T>G (n.361-15T>G) c.505-64041T>G (n.505-64041T>G) | |
| 10 | g.74525243T>C | CA2609737826 | ADK | c.556-13T>C (n.556-13T>C) c.505-13T>C (n.505-13T>C) c.280-13T>C (n.280-13T>C) c.556-64039T>C (n.556-64039T>C) c.296-13T>C c.*301-13T>C (n.*301-13T>C) c.451-13T>C (n.451-13T>C) n.259+2523A>G c.472-13T>C (n.472-13T>C) c.361-13T>C (n.361-13T>C) c.505-64039T>C (n.505-64039T>C) | gnomAD v4 |
| 10 | g.74525243T>G | CA2609737825 | ADK | c.556-13T>G (n.556-13T>G) c.505-13T>G (n.505-13T>G) c.280-13T>G (n.280-13T>G) c.556-64039T>G (n.556-64039T>G) c.296-13T>G c.*301-13T>G (n.*301-13T>G) c.451-13T>G (n.451-13T>G) n.259+2523A>C c.472-13T>G (n.472-13T>G) c.361-13T>G (n.361-13T>G) c.505-64039T>G (n.505-64039T>G) | gnomAD v4 |
| 10 | g.74525244T>G | CA2574586161 | ADK | c.556-12T>G (n.556-12T>G) c.505-12T>G (n.505-12T>G) c.280-12T>G (n.280-12T>G) c.556-64038T>G (n.556-64038T>G) c.296-12T>G c.*301-12T>G (n.*301-12T>G) c.451-12T>G (n.451-12T>G) n.259+2522A>C c.472-12T>G (n.472-12T>G) c.361-12T>G (n.361-12T>G) c.505-64038T>G (n.505-64038T>G) | gnomAD v4 |
| 10 | g.74525246C= | CA1920088278 | ADK | c.556-10C= (n.556-10C=) c.505-10C= (n.505-10C=) c.280-10C= (n.280-10C=) c.556-64036C= (n.556-64036C=) c.296-10C= c.*301-10C= (n.*301-10C=) c.451-10C= (n.451-10C=) n.259+2520G= c.472-10C= (n.472-10C=) c.361-10C= (n.361-10C=) c.505-64036C= (n.505-64036C=) | |
| 10 | g.74525246C>T | CA594712312 | ADK | c.556-10C>T (n.556-10C>T) c.505-10C>T (n.505-10C>T) c.280-10C>T (n.280-10C>T) c.556-64036C>T (n.556-64036C>T) c.296-10C>T c.*301-10C>T (n.*301-10C>T) c.451-10C>T (n.451-10C>T) n.259+2520G>A c.472-10C>T (n.472-10C>T) c.361-10C>T (n.361-10C>T) c.505-64036C>T (n.505-64036C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525248_74525255delinsTCATCCAG | CA1920088279 | ADK | c.556-8_556-1delinsTCATCCAG (n.556-8_556-1delinsTCATCCAG) c.505-8_505-1delinsTCATCCAG (n.505-8_505-1delinsTCATCCAG) c.280-8_280-1delinsTCATCCAG (n.280-8_280-1delinsTCATCCAG) c.556-64034_556-64027delinsTCATCCAG (n.556-64034_556-64027delinsTCATCCAG) c.296-8_296-1delinsTCATCCAG c.*301-8_*301-1delinsTCATCCAG (n.*301-8_*301-1delinsTCATCCAG) c.451-8_451-1delinsTCATCCAG (n.451-8_451-1delinsTCATCCAG) n.259+2511_259+2518delinsCTGGATGA c.472-8_472-1delinsTCATCCAG (n.472-8_472-1delinsTCATCCAG) c.361-8_361-1delinsTCATCCAG (n.361-8_361-1delinsTCATCCAG) c.505-64034_505-64027delinsTCATCCAG (n.505-64034_505-64027delinsTCATCCAG) | |
| 10 | g.74525249C>T | CA929990672 | ADK | c.556-7C>T (n.556-7C>T) c.505-7C>T (n.505-7C>T) c.280-7C>T (n.280-7C>T) c.556-64033C>T (n.556-64033C>T) c.296-7C>T c.*301-7C>T (n.*301-7C>T) c.451-7C>T (n.451-7C>T) n.259+2517G>A c.472-7C>T (n.472-7C>T) c.361-7C>T (n.361-7C>T) c.505-64033C>T (n.505-64033C>T) | gnomAD v3 gnomAD v4 |
| 10 | g.74525249_74525255del | CA594712313 | ADK | c.556-7_556-1del (n.556-7_556-1del) c.505-7_505-1del (n.505-7_505-1del) c.280-7_280-1del (n.280-7_280-1del) c.556-64033_556-64027del (n.556-64033_556-64027del) c.296-7_296-1del c.*301-7_*301-1del (n.*301-7_*301-1del) c.451-7_451-1del (n.451-7_451-1del) n.259+2511_259+2517del c.472-7_472-1del (n.472-7_472-1del) c.361-7_361-1del (n.361-7_361-1del) c.505-64033_505-64027del (n.505-64033_505-64027del) | dbSNP gnomAD v2 |
| 10 | g.74525250A= | CA1920088283 | ADK | c.556-6A= (n.556-6A=) c.505-6A= (n.505-6A=) c.280-6A= (n.280-6A=) c.556-64032A= (n.556-64032A=) c.296-6A= c.*301-6A= (n.*301-6A=) c.451-6A= (n.451-6A=) n.259+2516T= c.472-6A= (n.472-6A=) c.361-6A= (n.361-6A=) c.505-64032A= (n.505-64032A=) | |
| 10 | g.74525250A>G | CA5563997 | ADK | c.556-6A>G (n.556-6A>G) c.505-6A>G (n.505-6A>G) c.280-6A>G (n.280-6A>G) c.556-64032A>G (n.556-64032A>G) c.296-6A>G c.*301-6A>G (n.*301-6A>G) c.451-6A>G (n.451-6A>G) n.259+2516T>C c.472-6A>G (n.472-6A>G) c.361-6A>G (n.361-6A>G) c.505-64032A>G (n.505-64032A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525250A>T | CA929990673 | ADK | c.556-6A>T (n.556-6A>T) c.505-6A>T (n.505-6A>T) c.280-6A>T (n.280-6A>T) c.556-64032A>T (n.556-64032A>T) c.296-6A>T c.*301-6A>T (n.*301-6A>T) c.451-6A>T (n.451-6A>T) n.259+2516T>A c.472-6A>T (n.472-6A>T) c.361-6A>T (n.361-6A>T) c.505-64032A>T (n.505-64032A>T) | gnomAD v3 gnomAD v4 |
| 10 | g.74525251T>C | CA2574586162 | ADK | c.556-5T>C (n.556-5T>C) c.505-5T>C (n.505-5T>C) c.280-5T>C (n.280-5T>C) c.556-64031T>C (n.556-64031T>C) c.296-5T>C c.*301-5T>C (n.*301-5T>C) c.451-5T>C (n.451-5T>C) n.259+2515A>G c.472-5T>C (n.472-5T>C) c.361-5T>C (n.361-5T>C) c.505-64031T>C (n.505-64031T>C) | |
| 10 | g.74525251_74525252delinsTC | CA1920088288 | ADK | c.556-5_556-4delinsTC (n.556-5_556-4delinsTC) c.505-5_505-4delinsTC (n.505-5_505-4delinsTC) c.280-5_280-4delinsTC (n.280-5_280-4delinsTC) c.556-64031_556-64030delinsTC (n.556-64031_556-64030delinsTC) c.296-5_296-4delinsTC c.*301-5_*301-4delinsTC (n.*301-5_*301-4delinsTC) c.451-5_451-4delinsTC (n.451-5_451-4delinsTC) n.259+2514_259+2515delinsGA c.472-5_472-4delinsTC (n.472-5_472-4delinsTC) c.361-5_361-4delinsTC (n.361-5_361-4delinsTC) c.505-64031_505-64030delinsTC (n.505-64031_505-64030delinsTC) | |
| 10 | g.74525252C>T | CA929990674 | ADK | c.556-4C>T (n.556-4C>T) c.505-4C>T (n.505-4C>T) c.280-4C>T (n.280-4C>T) c.556-64030C>T (n.556-64030C>T) c.296-4C>T c.*301-4C>T (n.*301-4C>T) c.451-4C>T (n.451-4C>T) n.259+2514G>A c.472-4C>T (n.472-4C>T) c.361-4C>T (n.361-4C>T) c.505-64030C>T (n.505-64030C>T) | gnomAD v3 gnomAD v4 |
| 10 | g.74525253del | CA5563998 | ADK | c.556-3del (n.556-3del) c.505-3del (n.505-3del) c.280-3del (n.280-3del) c.556-64029del (n.556-64029del) c.296-3del c.*301-3del (n.*301-3del) c.451-3del (n.451-3del) n.259+2514del c.472-3del (n.472-3del) c.361-3del (n.361-3del) c.505-64029del (n.505-64029del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525253C= | CA1920088292 | ADK | c.556-3C= (n.556-3C=) c.505-3C= (n.505-3C=) c.280-3C= (n.280-3C=) c.556-64029C= (n.556-64029C=) c.296-3C= c.*301-3C= (n.*301-3C=) c.451-3C= (n.451-3C=) n.259+2513G= c.472-3C= (n.472-3C=) c.361-3C= (n.361-3C=) c.505-64029C= (n.505-64029C=) | |
| 10 | g.74525253C>T | CA5563999 | ADK | c.556-3C>T (n.556-3C>T) c.505-3C>T (n.505-3C>T) c.280-3C>T (n.280-3C>T) c.556-64029C>T (n.556-64029C>T) c.296-3C>T c.*301-3C>T (n.*301-3C>T) c.451-3C>T (n.451-3C>T) n.259+2513G>A c.472-3C>T (n.472-3C>T) c.361-3C>T (n.361-3C>T) c.505-64029C>T (n.505-64029C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525254A= | CA1920088295 | ADK | c.556-2A= (n.556-2A=) c.505-2A= (n.505-2A=) c.280-2A= (n.280-2A=) c.556-64028A= (n.556-64028A=) c.296-2A= c.*301-2A= (n.*301-2A=) c.451-2A= (n.451-2A=) n.259+2512T= c.472-2A= (n.472-2A=) c.361-2A= (n.361-2A=) c.505-64028A= (n.505-64028A=) | |
| 10 | g.74525254A>C | CA377397806 | ADK | c.556-2A>C (n.556-2A>C) c.505-2A>C (n.505-2A>C) c.280-2A>C (n.280-2A>C) c.556-64028A>C (n.556-64028A>C) c.296-2A>C c.*301-2A>C (n.*301-2A>C) c.451-2A>C (n.451-2A>C) n.259+2512T>G c.472-2A>C (n.472-2A>C) c.361-2A>C (n.361-2A>C) c.505-64028A>C (n.505-64028A>C) | gnomAD v4 |
| 10 | g.74525254A>G | CA377397807 | ADK | c.556-2A>G (n.556-2A>G) c.505-2A>G (n.505-2A>G) c.280-2A>G (n.280-2A>G) c.556-64028A>G (n.556-64028A>G) c.296-2A>G c.*301-2A>G (n.*301-2A>G) c.451-2A>G (n.451-2A>G) n.259+2512T>C c.472-2A>G (n.472-2A>G) c.361-2A>G (n.361-2A>G) c.505-64028A>G (n.505-64028A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.74525254A>T | CA377397808 | ADK | c.556-2A>T (n.556-2A>T) c.505-2A>T (n.505-2A>T) c.280-2A>T (n.280-2A>T) c.556-64028A>T (n.556-64028A>T) c.296-2A>T c.*301-2A>T (n.*301-2A>T) c.451-2A>T (n.451-2A>T) n.259+2512T>A c.472-2A>T (n.472-2A>T) c.361-2A>T (n.361-2A>T) c.505-64028A>T (n.505-64028A>T) | gnomAD v3 gnomAD v4 |
| 10 | g.74525255G>A | CA377397809 | ADK | c.556-1G>A (n.556-1G>A) c.505-1G>A (n.505-1G>A) c.280-1G>A (n.280-1G>A) c.556-64027G>A (n.556-64027G>A) c.296-1G>A c.*301-1G>A (n.*301-1G>A) c.451-1G>A (n.451-1G>A) n.259+2511C>T c.472-1G>A (n.472-1G>A) c.361-1G>A (n.361-1G>A) c.505-64027G>A (n.505-64027G>A) | |
| 10 | g.74525255G>C | CA377397810 | ADK | c.556-1G>C (n.556-1G>C) c.505-1G>C (n.505-1G>C) c.280-1G>C (n.280-1G>C) c.556-64027G>C (n.556-64027G>C) c.296-1G>C c.*301-1G>C (n.*301-1G>C) c.451-1G>C (n.451-1G>C) n.259+2511C>G c.472-1G>C (n.472-1G>C) c.361-1G>C (n.361-1G>C) c.505-64027G>C (n.505-64027G>C) | |
| 10 | g.74525255G= | CA1920088298 | ADK | c.556-1G= (n.556-1G=) c.505-1G= (n.505-1G=) c.280-1G= (n.280-1G=) c.556-64027G= (n.556-64027G=) c.296-1G= c.*301-1G= (n.*301-1G=) c.451-1G= (n.451-1G=) n.259+2511C= c.472-1G= (n.472-1G=) c.361-1G= (n.361-1G=) c.505-64027G= (n.505-64027G=) | |
| 10 | g.74525255G>T | CA377397811 | ADK | c.556-1G>T (n.556-1G>T) c.505-1G>T (n.505-1G>T) c.280-1G>T (n.280-1G>T) c.556-64027G>T (n.556-64027G>T) c.296-1G>T c.*301-1G>T (n.*301-1G>T) c.451-1G>T (n.451-1G>T) n.259+2511C>A c.472-1G>T (n.472-1G>T) c.361-1G>T (n.361-1G>T) c.505-64027G>T (n.505-64027G>T) | |
| 10 | g.74525255_74525256insTTTTTTT | CA594712314 | ADK | c.556-1_556insTTTTTTT (n.556-1_556insTTTTTTT) c.505-1_505insTTTTTTT (n.505-1_505insTTTTTTT) c.280-1_280insTTTTTTT (n.280-1_280insTTTTTTT) c.556-64027_556-64026insTTTTTTT (n.556-64027_556-64026insTTTTTTT) c.296-1_296insTTTTTTT c.*301-1_*301insTTTTTTT (n.*301-1_*301insTTTTTTT) c.451-1_451insTTTTTTT (n.451-1_451insTTTTTTT) n.259+2510_259+2511insAAAAAAA c.472-1_472insTTTTTTT (n.472-1_472insTTTTTTT) c.361-1_361insTTTTTTT (n.361-1_361insTTTTTTT) c.505-64027_505-64026insTTTTTTT (n.505-64027_505-64026insTTTTTTT) | dbSNP gnomAD v2 |
| 10 | g.74525256G>A | CA377397812 | ADK | c.556G>A (p.Gly186Ser) c.505G>A (p.Gly169Ser) c.280G>A (p.Gly94Ser) c.556-64026G>A (n.556-64026G>A) c.296G>A c.*301G>A (n.*301G>A) c.451G>A (p.Gly151Ser) n.259+2510C>T c.472G>A (p.Gly158Ser) c.361G>A (p.Gly121Ser) c.505-64026G>A (n.505-64026G>A) | |
| 10 | g.74525256G>C | CA377397813 | ADK | c.556G>C (p.Gly186Arg) c.505G>C (p.Gly169Arg) c.280G>C (p.Gly94Arg) c.556-64026G>C (n.556-64026G>C) c.296G>C c.*301G>C (n.*301G>C) c.451G>C (p.Gly151Arg) n.259+2510C>G c.472G>C (p.Gly158Arg) c.361G>C (p.Gly121Arg) c.505-64026G>C (n.505-64026G>C) | |
| 10 | g.74525256G= | CA1920088304 | ADK | c.556G= (p.Gly186=) c.505G= (p.Gly169=) c.280G= (p.Gly94=) c.556-64026G= (n.556-64026G=) c.296G= c.*301G= (n.*301G=) c.451G= (p.Gly151=) n.259+2510C= c.472G= (p.Gly158=) c.361G= (p.Gly121=) c.505-64026G= (n.505-64026G=) | |
| 10 | g.74525256G>T | CA209874917 | ADK | c.556G>T (p.Gly186Cys) c.505G>T (p.Gly169Cys) c.280G>T (p.Gly94Cys) c.556-64026G>T (n.556-64026G>T) c.296G>T c.*301G>T (n.*301G>T) c.451G>T (p.Gly151Cys) n.259+2510C>A c.472G>T (p.Gly158Cys) c.361G>T (p.Gly121Cys) c.505-64026G>T (n.505-64026G>T) | dbSNP |
| 10 | g.74525257G>A | CA377397814 | ADK | c.557G>A (p.Gly186Asp) c.506G>A (p.Gly169Asp) c.281G>A (p.Gly94Asp) c.556-64025G>A (n.556-64025G>A) c.297G>A c.*302G>A (n.*302G>A) c.452G>A (p.Gly151Asp) n.259+2509C>T c.473G>A (p.Gly158Asp) c.362G>A (p.Gly121Asp) c.505-64025G>A (n.505-64025G>A) | gnomAD v4 |
| 10 | g.74525257G>C | CA377397815 | ADK | c.557G>C (p.Gly186Ala) c.506G>C (p.Gly169Ala) c.281G>C (p.Gly94Ala) c.556-64025G>C (n.556-64025G>C) c.297G>C c.*302G>C (n.*302G>C) c.452G>C (p.Gly151Ala) n.259+2509C>G c.473G>C (p.Gly158Ala) c.362G>C (p.Gly121Ala) c.505-64025G>C (n.505-64025G>C) | |
| 10 | g.74525257G>T | CA377397816 | ADK | c.557G>T (p.Gly186Val) c.506G>T (p.Gly169Val) c.281G>T (p.Gly94Val) c.556-64025G>T (n.556-64025G>T) c.297G>T c.*302G>T (n.*302G>T) c.452G>T (p.Gly151Val) n.259+2509C>A c.473G>T (p.Gly158Val) c.362G>T (p.Gly121Val) c.505-64025G>T (n.505-64025G>T) | |
| 10 | g.74525258C>A | CA5564000 | ADK | c.558C>A (p.Gly186=) c.507C>A (p.Gly169=) c.282C>A (p.Gly94=) c.556-64024C>A (n.556-64024C>A) c.298C>A c.*303C>A (n.*303C>A) c.453C>A (p.Gly151=) n.259+2508G>T c.474C>A (p.Gly158=) c.363C>A (p.Gly121=) c.505-64024C>A (n.505-64024C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525258C= | CA1920088308 | ADK | c.558C= (p.Gly186=) c.507C= (p.Gly169=) c.282C= (p.Gly94=) c.556-64024C= (n.556-64024C=) c.298C= c.*303C= (n.*303C=) c.453C= (p.Gly151=) n.259+2508G= c.474C= (p.Gly158=) c.363C= (p.Gly121=) c.505-64024C= (n.505-64024C=) | |
| 10 | g.74525258C>G | CA470254765 | ADK | c.558C>G (p.Gly186=) c.507C>G (p.Gly169=) c.282C>G (p.Gly94=) c.556-64024C>G (n.556-64024C>G) c.298C>G c.*303C>G (n.*303C>G) c.453C>G (p.Gly151=) n.259+2508G>C c.474C>G (p.Gly158=) c.363C>G (p.Gly121=) c.505-64024C>G (n.505-64024C>G) | |
| 10 | g.74525258C>T | CA470254766 | ADK | c.558C>T (p.Gly186=) c.507C>T (p.Gly169=) c.282C>T (p.Gly94=) c.556-64024C>T (n.556-64024C>T) c.298C>T c.*303C>T (n.*303C>T) c.453C>T (p.Gly151=) n.259+2508G>A c.474C>T (p.Gly158=) c.363C>T (p.Gly121=) c.505-64024C>T (n.505-64024C>T) | |
| 10 | g.74525258_74525259delinsCT | CA1920088309 | ADK | c.558_559delinsCT (p.Gly186=) c.507_508delinsCT (p.Gly169=) c.282_283delinsCT (p.Gly94=) c.556-64024_556-64023delinsCT (n.556-64024_556-64023delinsCT) c.298_299delinsCT c.*303_*304delinsCT (n.*303_*304delinsCT) c.453_454delinsCT (p.Gly151=) n.259+2507_259+2508delinsAG c.474_475delinsCT (p.Gly158=) c.363_364delinsCT (p.Gly121=) c.505-64024_505-64023delinsCT (n.505-64024_505-64023delinsCT) | |
| 10 | g.74525259T>A | CA377397819 | ADK | c.559T>A (p.Phe187Ile) c.508T>A (p.Phe170Ile) c.283T>A (p.Phe95Ile) c.556-64023T>A (n.556-64023T>A) c.299T>A c.*304T>A (n.*304T>A) c.454T>A (p.Phe152Ile) n.259+2507A>T c.475T>A (p.Phe159Ile) c.364T>A (p.Phe122Ile) c.505-64023T>A (n.505-64023T>A) | |
| 10 | g.74525259T>C | CA377397818 | ADK | c.559T>C (p.Phe187Leu) c.508T>C (p.Phe170Leu) c.283T>C (p.Phe95Leu) c.556-64023T>C (n.556-64023T>C) c.299T>C c.*304T>C (n.*304T>C) c.454T>C (p.Phe152Leu) n.259+2507A>G c.475T>C (p.Phe159Leu) c.364T>C (p.Phe122Leu) c.505-64023T>C (n.505-64023T>C) | |
| 10 | g.74525259T>G | CA377397817 | ADK | c.559T>G (p.Phe187Val) c.508T>G (p.Phe170Val) c.283T>G (p.Phe95Val) c.556-64023T>G (n.556-64023T>G) c.299T>G c.*304T>G (n.*304T>G) c.454T>G (p.Phe152Val) n.259+2507A>C c.475T>G (p.Phe159Val) c.364T>G (p.Phe122Val) c.505-64023T>G (n.505-64023T>G) | |
| 10 | g.74525264del | CA5564001 | ADK | c.564del (p.Thr190GlnfsTer8) c.513del (p.Thr173GlnfsTer8) c.288del (p.Thr98GlnfsTer8) c.556-64018del (n.556-64018del) c.304del c.*309del (n.*309del) c.459del (p.Thr155GlnfsTer8) n.259+2507del c.480del (p.Thr162GlnfsTer8) c.369del (p.Thr125GlnfsTer8) c.505-64018del (n.505-64018del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.74525260T>A | CA377397820 | ADK | c.560T>A (p.Phe187Tyr) c.509T>A (p.Phe170Tyr) c.284T>A (p.Phe95Tyr) c.556-64022T>A (n.556-64022T>A) c.300T>A c.*305T>A (n.*305T>A) c.455T>A (p.Phe152Tyr) n.259+2506A>T c.476T>A (p.Phe159Tyr) c.365T>A (p.Phe122Tyr) c.505-64022T>A (n.505-64022T>A) | |
| 10 | g.74525260T>C | CA377397821 | ADK | c.560T>C (p.Phe187Ser) c.509T>C (p.Phe170Ser) c.284T>C (p.Phe95Ser) c.556-64022T>C (n.556-64022T>C) c.300T>C c.*305T>C (n.*305T>C) c.455T>C (p.Phe152Ser) n.259+2506A>G c.476T>C (p.Phe159Ser) c.365T>C (p.Phe122Ser) c.505-64022T>C (n.505-64022T>C) | |
| 10 | g.74525260T>G | CA377397822 | ADK | c.560T>G (p.Phe187Cys) c.509T>G (p.Phe170Cys) c.284T>G (p.Phe95Cys) c.556-64022T>G (n.556-64022T>G) c.300T>G c.*305T>G (n.*305T>G) c.455T>G (p.Phe152Cys) n.259+2506A>C c.476T>G (p.Phe159Cys) c.365T>G (p.Phe122Cys) c.505-64022T>G (n.505-64022T>G) | |
| 10 | g.74525261T>A | CA377397823 | ADK | c.561T>A (p.Phe187Leu) c.510T>A (p.Phe170Leu) c.285T>A (p.Phe95Leu) c.556-64021T>A (n.556-64021T>A) c.301T>A c.*306T>A (n.*306T>A) c.456T>A (p.Phe152Leu) n.259+2505A>T c.477T>A (p.Phe159Leu) c.366T>A (p.Phe122Leu) c.505-64021T>A (n.505-64021T>A) | |
| 10 | g.74525261T>C | CA470254767 | ADK | c.561T>C (p.Phe187=) c.510T>C (p.Phe170=) c.285T>C (p.Phe95=) c.556-64021T>C (n.556-64021T>C) c.301T>C c.*306T>C (n.*306T>C) c.456T>C (p.Phe152=) n.259+2505A>G c.477T>C (p.Phe159=) c.366T>C (p.Phe122=) c.505-64021T>C (n.505-64021T>C) | dbSNP gnomAD v4 |
| 10 | g.74525261T>G | CA377397824 | ADK | c.561T>G (p.Phe187Leu) c.510T>G (p.Phe170Leu) c.285T>G (p.Phe95Leu) c.556-64021T>G (n.556-64021T>G) c.301T>G c.*306T>G (n.*306T>G) c.456T>G (p.Phe152Leu) n.259+2505A>C c.477T>G (p.Phe159Leu) c.366T>G (p.Phe122Leu) c.505-64021T>G (n.505-64021T>G) | |
| 10 | g.74525261T= | CA1920088314 | ADK | c.561T= (p.Phe187=) c.510T= (p.Phe170=) c.285T= (p.Phe95=) c.556-64021T= (n.556-64021T=) c.301T= c.*306T= (n.*306T=) c.456T= (p.Phe152=) n.259+2505A= c.477T= (p.Phe159=) c.366T= (p.Phe122=) c.505-64021T= (n.505-64021T=) | |
| 10 | g.74525262T>A | CA377397825 | ADK | c.562T>A (p.Phe188Ile) c.511T>A (p.Phe171Ile) c.286T>A (p.Phe96Ile) c.556-64020T>A (n.556-64020T>A) c.302T>A c.*307T>A (n.*307T>A) c.457T>A (p.Phe153Ile) n.259+2504A>T c.478T>A (p.Phe160Ile) c.367T>A (p.Phe123Ile) c.505-64020T>A (n.505-64020T>A) | |
| 10 | g.74525262T>C | CA377397827 | ADK | c.562T>C (p.Phe188Leu) c.511T>C (p.Phe171Leu) c.286T>C (p.Phe96Leu) c.556-64020T>C (n.556-64020T>C) c.302T>C c.*307T>C (n.*307T>C) c.457T>C (p.Phe153Leu) n.259+2504A>G c.478T>C (p.Phe160Leu) c.367T>C (p.Phe123Leu) c.505-64020T>C (n.505-64020T>C) | |
| 10 | g.74525262T>G | CA377397826 | ADK | c.562T>G (p.Phe188Val) c.511T>G (p.Phe171Val) c.286T>G (p.Phe96Val) c.556-64020T>G (n.556-64020T>G) c.302T>G c.*307T>G (n.*307T>G) c.457T>G (p.Phe153Val) n.259+2504A>C c.478T>G (p.Phe160Val) c.367T>G (p.Phe123Val) c.505-64020T>G (n.505-64020T>G) | |
| 10 | g.74525263T>A | CA377397828 | ADK | c.563T>A (p.Phe188Tyr) c.512T>A (p.Phe171Tyr) c.287T>A (p.Phe96Tyr) c.556-64019T>A (n.556-64019T>A) c.303T>A c.*308T>A (n.*308T>A) c.458T>A (p.Phe153Tyr) n.259+2503A>T c.479T>A (p.Phe160Tyr) c.368T>A (p.Phe123Tyr) c.505-64019T>A (n.505-64019T>A) | |
| 10 | g.74525263T>C | CA5564002 | ADK | c.563T>C (p.Phe188Ser) c.512T>C (p.Phe171Ser) c.287T>C (p.Phe96Ser) c.556-64019T>C (n.556-64019T>C) c.303T>C c.*308T>C (n.*308T>C) c.458T>C (p.Phe153Ser) n.259+2503A>G c.479T>C (p.Phe160Ser) c.368T>C (p.Phe123Ser) c.505-64019T>C (n.505-64019T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525263T>G | CA377397829 | ADK | c.563T>G (p.Phe188Cys) c.512T>G (p.Phe171Cys) c.287T>G (p.Phe96Cys) c.556-64019T>G (n.556-64019T>G) c.303T>G c.*308T>G (n.*308T>G) c.458T>G (p.Phe153Cys) n.259+2503A>C c.479T>G (p.Phe160Cys) c.368T>G (p.Phe123Cys) c.505-64019T>G (n.505-64019T>G) | |
| 10 | g.74525263T= | CA1920088319 | ADK | c.563T= (p.Phe188=) c.512T= (p.Phe171=) c.287T= (p.Phe96=) c.556-64019T= (n.556-64019T=) c.303T= c.*308T= (n.*308T=) c.458T= (p.Phe153=) n.259+2503A= c.479T= (p.Phe160=) c.368T= (p.Phe123=) c.505-64019T= (n.505-64019T=) | |
| 10 | g.74525264T>A | CA377397830 | ADK | c.564T>A (p.Phe188Leu) c.513T>A (p.Phe171Leu) c.288T>A (p.Phe96Leu) c.556-64018T>A (n.556-64018T>A) c.304T>A c.*309T>A (n.*309T>A) c.459T>A (p.Phe153Leu) n.259+2502A>T c.480T>A (p.Phe160Leu) c.369T>A (p.Phe123Leu) c.505-64018T>A (n.505-64018T>A) | |
| 10 | g.74525264T>C | CA470254768 | ADK | c.564T>C (p.Phe188=) c.513T>C (p.Phe171=) c.288T>C (p.Phe96=) c.556-64018T>C (n.556-64018T>C) c.304T>C c.*309T>C (n.*309T>C) c.459T>C (p.Phe153=) n.259+2502A>G c.480T>C (p.Phe160=) c.369T>C (p.Phe123=) c.505-64018T>C (n.505-64018T>C) | |
| 10 | g.74525264T>G | CA377397831 | ADK | c.564T>G (p.Phe188Leu) c.513T>G (p.Phe171Leu) c.288T>G (p.Phe96Leu) c.556-64018T>G (n.556-64018T>G) c.304T>G c.*309T>G (n.*309T>G) c.459T>G (p.Phe153Leu) n.259+2502A>C c.480T>G (p.Phe160Leu) c.369T>G (p.Phe123Leu) c.505-64018T>G (n.505-64018T>G) | |
| 10 | g.74525265C>A | CA377397832 | ADK | c.565C>A (p.Leu189Ile) c.514C>A (p.Leu172Ile) c.289C>A (p.Leu97Ile) c.556-64017C>A (n.556-64017C>A) c.305C>A c.*310C>A (n.*310C>A) c.460C>A (p.Leu154Ile) n.259+2501G>T c.481C>A (p.Leu161Ile) c.370C>A (p.Leu124Ile) c.505-64017C>A (n.505-64017C>A) | |
| 10 | g.74525265C>G | CA377397833 | ADK | c.565C>G (p.Leu189Val) c.514C>G (p.Leu172Val) c.289C>G (p.Leu97Val) c.556-64017C>G (n.556-64017C>G) c.305C>G c.*310C>G (n.*310C>G) c.460C>G (p.Leu154Val) n.259+2501G>C c.481C>G (p.Leu161Val) c.370C>G (p.Leu124Val) c.505-64017C>G (n.505-64017C>G) | |
| 10 | g.74525265C>T | CA377397834 | ADK | c.565C>T (p.Leu189Phe) c.514C>T (p.Leu172Phe) c.289C>T (p.Leu97Phe) c.556-64017C>T (n.556-64017C>T) c.305C>T c.*310C>T (n.*310C>T) c.460C>T (p.Leu154Phe) n.259+2501G>A c.481C>T (p.Leu161Phe) c.370C>T (p.Leu124Phe) c.505-64017C>T (n.505-64017C>T) | COSMIC |
| 10 | g.74525266T>A | CA377397835 | ADK | c.566T>A (p.Leu189His) c.515T>A (p.Leu172His) c.290T>A (p.Leu97His) c.556-64016T>A (n.556-64016T>A) c.306T>A c.*311T>A (n.*311T>A) c.461T>A (p.Leu154His) n.259+2500A>T c.482T>A (p.Leu161His) c.371T>A (p.Leu124His) c.505-64016T>A (n.505-64016T>A) | |
| 10 | g.74525266T>C | CA377397836 | ADK | c.566T>C (p.Leu189Pro) c.515T>C (p.Leu172Pro) c.290T>C (p.Leu97Pro) c.556-64016T>C (n.556-64016T>C) c.306T>C c.*311T>C (n.*311T>C) c.461T>C (p.Leu154Pro) n.259+2500A>G c.482T>C (p.Leu161Pro) c.371T>C (p.Leu124Pro) c.505-64016T>C (n.505-64016T>C) | |
| 10 | g.74525266T>G | CA377397837 | ADK | c.566T>G (p.Leu189Arg) c.515T>G (p.Leu172Arg) c.290T>G (p.Leu97Arg) c.556-64016T>G (n.556-64016T>G) c.306T>G c.*311T>G (n.*311T>G) c.461T>G (p.Leu154Arg) n.259+2500A>C c.482T>G (p.Leu161Arg) c.371T>G (p.Leu124Arg) c.505-64016T>G (n.505-64016T>G) | |
| 10 | g.74525267T>A | CA470254770 | ADK | c.567T>A (p.Leu189=) c.516T>A (p.Leu172=) c.291T>A (p.Leu97=) c.556-64015T>A (n.556-64015T>A) c.307T>A c.*312T>A (n.*312T>A) c.462T>A (p.Leu154=) n.259+2499A>T c.483T>A (p.Leu161=) c.372T>A (p.Leu124=) c.505-64015T>A (n.505-64015T>A) | |
| 10 | g.74525267T>C | CA470254771 | ADK | c.567T>C (p.Leu189=) c.516T>C (p.Leu172=) c.291T>C (p.Leu97=) c.556-64015T>C (n.556-64015T>C) c.307T>C c.*312T>C (n.*312T>C) c.462T>C (p.Leu154=) n.259+2499A>G c.483T>C (p.Leu161=) c.372T>C (p.Leu124=) c.505-64015T>C (n.505-64015T>C) | gnomAD v4 |
| 10 | g.74525267T>G | CA470254769 | ADK | c.567T>G (p.Leu189=) c.516T>G (p.Leu172=) c.291T>G (p.Leu97=) c.556-64015T>G (n.556-64015T>G) c.307T>G c.*312T>G (n.*312T>G) c.462T>G (p.Leu154=) n.259+2499A>C c.483T>G (p.Leu161=) c.372T>G (p.Leu124=) c.505-64015T>G (n.505-64015T>G) | |
| 10 | g.74525267_74525269delinsTAC | CA1920088321 | ADK | c.567_569delinsTAC (p.Leu189=) c.516_518delinsTAC (p.Leu172=) c.291_293delinsTAC (p.Leu97=) c.556-64015_556-64013delinsTAC (n.556-64015_556-64013delinsTAC) c.307_309delinsTAC c.*312_*314delinsTAC (n.*312_*314delinsTAC) c.462_464delinsTAC (p.Leu154=) n.259+2497_259+2499delinsGTA c.483_485delinsTAC (p.Leu161=) c.372_374delinsTAC (p.Leu124=) c.505-64015_505-64013delinsTAC (n.505-64015_505-64013delinsTAC) | |
| 10 | g.74525268A>C | CA377397838 | ADK | c.568A>C (p.Thr190Pro) c.517A>C (p.Thr173Pro) c.292A>C (p.Thr98Pro) c.556-64014A>C (n.556-64014A>C) c.308A>C c.*313A>C (n.*313A>C) c.463A>C (p.Thr155Pro) n.259+2498T>G c.484A>C (p.Thr162Pro) c.373A>C (p.Thr125Pro) c.505-64014A>C (n.505-64014A>C) | |
| 10 | g.74525268A>G | CA377397840 | ADK | c.568A>G (p.Thr190Ala) c.517A>G (p.Thr173Ala) c.292A>G (p.Thr98Ala) c.556-64014A>G (n.556-64014A>G) c.308A>G c.*313A>G (n.*313A>G) c.463A>G (p.Thr155Ala) n.259+2498T>C c.484A>G (p.Thr162Ala) c.373A>G (p.Thr125Ala) c.505-64014A>G (n.505-64014A>G) | |
| 10 | g.74525268A>T | CA377397839 | ADK | c.568A>T (p.Thr190Ser) c.517A>T (p.Thr173Ser) c.292A>T (p.Thr98Ser) c.556-64014A>T (n.556-64014A>T) c.308A>T c.*313A>T (n.*313A>T) c.463A>T (p.Thr155Ser) n.259+2498T>A c.484A>T (p.Thr162Ser) c.373A>T (p.Thr125Ser) c.505-64014A>T (n.505-64014A>T) | gnomAD v4 |
| 10 | g.74525269_74525270del | CA1920088324 | ADK | c.569_570del (p.Thr190SerfsTer15) c.518_519del (p.Thr173SerfsTer15) c.293_294del (p.Thr98SerfsTer15) c.556-64013_556-64012del (n.556-64013_556-64012del) c.309_310del c.*314_*315del (n.*314_*315del) c.464_465del (p.Thr155SerfsTer15) n.259+2497_259+2498del c.485_486del (p.Thr162SerfsTer15) c.374_375del (p.Thr125SerfsTer15) c.505-64013_505-64012del (n.505-64013_505-64012del) | dbSNP gnomAD v4 |
| 10 | g.74525269C>A | CA377397841 | ADK | c.569C>A (p.Thr190Lys) c.518C>A (p.Thr173Lys) c.293C>A (p.Thr98Lys) c.556-64013C>A (n.556-64013C>A) c.309C>A c.*314C>A (n.*314C>A) c.464C>A (p.Thr155Lys) n.259+2497G>T c.485C>A (p.Thr162Lys) c.374C>A (p.Thr125Lys) c.505-64013C>A (n.505-64013C>A) | |
| 10 | g.74525269C= | CA1920088329 | ADK | c.569C= (p.Thr190=) c.518C= (p.Thr173=) c.293C= (p.Thr98=) c.556-64013C= (n.556-64013C=) c.309C= c.*314C= (n.*314C=) c.464C= (p.Thr155=) n.259+2497G= c.485C= (p.Thr162=) c.374C= (p.Thr125=) c.505-64013C= (n.505-64013C=) | |
| 10 | g.74525269C>G | CA377397843 | ADK | c.569C>G (p.Thr190Arg) c.518C>G (p.Thr173Arg) c.293C>G (p.Thr98Arg) c.556-64013C>G (n.556-64013C>G) c.309C>G c.*314C>G (n.*314C>G) c.464C>G (p.Thr155Arg) n.259+2497G>C c.485C>G (p.Thr162Arg) c.374C>G (p.Thr125Arg) c.505-64013C>G (n.505-64013C>G) | |
| 10 | g.74525269C>T | CA377397842 | ADK | c.569C>T (p.Thr190Ile) c.518C>T (p.Thr173Ile) c.293C>T (p.Thr98Ile) c.556-64013C>T (n.556-64013C>T) c.309C>T c.*314C>T (n.*314C>T) c.464C>T (p.Thr155Ile) n.259+2497G>A c.485C>T (p.Thr162Ile) c.374C>T (p.Thr125Ile) c.505-64013C>T (n.505-64013C>T) | dbSNP gnomAD v4 |
| 10 | g.74525270A= | CA1920088332 | ADK | c.570A= (p.Thr190=) c.519A= (p.Thr173=) c.294A= (p.Thr98=) c.556-64012A= (n.556-64012A=) c.310A= c.*315A= (n.*315A=) c.465A= (p.Thr155=) n.259+2496T= c.486A= (p.Thr162=) c.375A= (p.Thr125=) c.505-64012A= (n.505-64012A=) | |
| 10 | g.74525270A>C | CA470254773 | ADK | c.570A>C (p.Thr190=) c.519A>C (p.Thr173=) c.294A>C (p.Thr98=) c.556-64012A>C (n.556-64012A>C) c.310A>C c.*315A>C (n.*315A>C) c.465A>C (p.Thr155=) n.259+2496T>G c.486A>C (p.Thr162=) c.375A>C (p.Thr125=) c.505-64012A>C (n.505-64012A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.74525270A>G | CA209874918 | ADK | c.570A>G (p.Thr190=) c.519A>G (p.Thr173=) c.294A>G (p.Thr98=) c.556-64012A>G (n.556-64012A>G) c.310A>G c.*315A>G (n.*315A>G) c.465A>G (p.Thr155=) n.259+2496T>C c.486A>G (p.Thr162=) c.375A>G (p.Thr125=) c.505-64012A>G (n.505-64012A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525270A>T | CA470254772 | ADK | c.570A>T (p.Thr190=) c.519A>T (p.Thr173=) c.294A>T (p.Thr98=) c.556-64012A>T (n.556-64012A>T) c.310A>T c.*315A>T (n.*315A>T) c.465A>T (p.Thr155=) n.259+2496T>A c.486A>T (p.Thr162=) c.375A>T (p.Thr125=) c.505-64012A>T (n.505-64012A>T) | |
| 10 | g.74525271G>A | CA377397844 | ADK | c.571G>A (p.Val191Ile) c.520G>A (p.Val174Ile) c.295G>A (p.Val99Ile) c.556-64011G>A (n.556-64011G>A) c.311G>A c.*316G>A (n.*316G>A) c.466G>A (p.Val156Ile) n.259+2495C>T c.487G>A (p.Val163Ile) c.376G>A (p.Val126Ile) c.505-64011G>A (n.505-64011G>A) | |
| 10 | g.74525271G>C | CA377397845 | ADK | c.571G>C (p.Val191Leu) c.520G>C (p.Val174Leu) c.295G>C (p.Val99Leu) c.556-64011G>C (n.556-64011G>C) c.311G>C c.*316G>C (n.*316G>C) c.466G>C (p.Val156Leu) n.259+2495C>G c.487G>C (p.Val163Leu) c.376G>C (p.Val126Leu) c.505-64011G>C (n.505-64011G>C) | |
| 10 | g.74525271G>T | CA377397846 | ADK | c.571G>T (p.Val191Phe) c.520G>T (p.Val174Phe) c.295G>T (p.Val99Phe) c.556-64011G>T (n.556-64011G>T) c.311G>T c.*316G>T (n.*316G>T) c.466G>T (p.Val156Phe) n.259+2495C>A c.487G>T (p.Val163Phe) c.376G>T (p.Val126Phe) c.505-64011G>T (n.505-64011G>T) | |
| 10 | g.74525272T>A | CA377397847 | ADK | c.572T>A (p.Val191Asp) c.521T>A (p.Val174Asp) c.296T>A (p.Val99Asp) c.556-64010T>A (n.556-64010T>A) c.312T>A c.*317T>A (n.*317T>A) c.467T>A (p.Val156Asp) n.259+2494A>T c.488T>A (p.Val163Asp) c.377T>A (p.Val126Asp) c.505-64010T>A (n.505-64010T>A) | |
| 10 | g.74525272T>C | CA5564003 | ADK | c.572T>C (p.Val191Ala) c.521T>C (p.Val174Ala) c.296T>C (p.Val99Ala) c.556-64010T>C (n.556-64010T>C) c.312T>C c.*317T>C (n.*317T>C) c.467T>C (p.Val156Ala) n.259+2494A>G c.488T>C (p.Val163Ala) c.377T>C (p.Val126Ala) c.505-64010T>C (n.505-64010T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525272T>G | CA377397848 | ADK | c.572T>G (p.Val191Gly) c.521T>G (p.Val174Gly) c.296T>G (p.Val99Gly) c.556-64010T>G (n.556-64010T>G) c.312T>G c.*317T>G (n.*317T>G) c.467T>G (p.Val156Gly) n.259+2494A>C c.488T>G (p.Val163Gly) c.377T>G (p.Val126Gly) c.505-64010T>G (n.505-64010T>G) | |
| 10 | g.74525272T= | CA1920088335 | ADK | c.572T= (p.Val191=) c.521T= (p.Val174=) c.296T= (p.Val99=) c.556-64010T= (n.556-64010T=) c.312T= c.*317T= (n.*317T=) c.467T= (p.Val156=) n.259+2494A= c.488T= (p.Val163=) c.377T= (p.Val126=) c.505-64010T= (n.505-64010T=) | |
| 10 | g.74525273T>A | CA470254774 | ADK | c.573T>A (p.Val191=) c.522T>A (p.Val174=) c.297T>A (p.Val99=) c.556-64009T>A (n.556-64009T>A) c.313T>A c.*318T>A (n.*318T>A) c.468T>A (p.Val156=) n.259+2493A>T c.489T>A (p.Val163=) c.378T>A (p.Val126=) c.505-64009T>A (n.505-64009T>A) | |
| 10 | g.74525273T>C | CA470254776 | ADK | c.573T>C (p.Val191=) c.522T>C (p.Val174=) c.297T>C (p.Val99=) c.556-64009T>C (n.556-64009T>C) c.313T>C c.*318T>C (n.*318T>C) c.468T>C (p.Val156=) n.259+2493A>G c.489T>C (p.Val163=) c.378T>C (p.Val126=) c.505-64009T>C (n.505-64009T>C) | |
| 10 | g.74525273T>G | CA470254775 | ADK | c.573T>G (p.Val191=) c.522T>G (p.Val174=) c.297T>G (p.Val99=) c.556-64009T>G (n.556-64009T>G) c.313T>G c.*318T>G (n.*318T>G) c.468T>G (p.Val156=) n.259+2493A>C c.489T>G (p.Val163=) c.378T>G (p.Val126=) c.505-64009T>G (n.505-64009T>G) | |
| 10 | g.74525273_74525274insG | CA2609737827 | ADK | c.573_574insG (p.Ser192ValfsTer14) c.522_523insG (p.Ser175ValfsTer14) c.297_298insG (p.Ser100ValfsTer14) c.556-64009_556-64008insG (n.556-64009_556-64008insG) c.313_314insG c.*318_*319insG (n.*318_*319insG) c.468_469insG (p.Ser157ValfsTer14) n.259+2492_259+2493insC c.489_490insG (p.Ser164ValfsTer14) c.378_379insG (p.Ser127ValfsTer14) c.505-64009_505-64008insG (n.505-64009_505-64008insG) | gnomAD v4 |
| 10 | g.74525274T>A | CA377397849 | ADK | c.574T>A (p.Ser192Thr) c.523T>A (p.Ser175Thr) c.298T>A (p.Ser100Thr) c.556-64008T>A (n.556-64008T>A) c.314T>A c.*319T>A (n.*319T>A) c.469T>A (p.Ser157Thr) n.259+2492A>T c.490T>A (p.Ser164Thr) c.379T>A (p.Ser127Thr) c.505-64008T>A (n.505-64008T>A) | |
| 10 | g.74525274T>C | CA377397850 | ADK | c.574T>C (p.Ser192Pro) c.523T>C (p.Ser175Pro) c.298T>C (p.Ser100Pro) c.556-64008T>C (n.556-64008T>C) c.314T>C c.*319T>C (n.*319T>C) c.469T>C (p.Ser157Pro) n.259+2492A>G c.490T>C (p.Ser164Pro) c.379T>C (p.Ser127Pro) c.505-64008T>C (n.505-64008T>C) | |
| 10 | g.74525274T>G | CA377397851 | ADK | c.574T>G (p.Ser192Ala) c.523T>G (p.Ser175Ala) c.298T>G (p.Ser100Ala) c.556-64008T>G (n.556-64008T>G) c.314T>G c.*319T>G (n.*319T>G) c.469T>G (p.Ser157Ala) n.259+2492A>C c.490T>G (p.Ser164Ala) c.379T>G (p.Ser127Ala) c.505-64008T>G (n.505-64008T>G) | |
| 10 | g.74525275C>A | CA377397852 | ADK | c.575C>A (p.Ser192Tyr) c.524C>A (p.Ser175Tyr) c.299C>A (p.Ser100Tyr) c.556-64007C>A (n.556-64007C>A) c.315C>A c.*320C>A (n.*320C>A) c.470C>A (p.Ser157Tyr) n.259+2491G>T c.491C>A (p.Ser164Tyr) c.380C>A (p.Ser127Tyr) c.505-64007C>A (n.505-64007C>A) | |
| 10 | g.74525275C>G | CA377397853 | ADK | c.575C>G (p.Ser192Cys) c.524C>G (p.Ser175Cys) c.299C>G (p.Ser100Cys) c.556-64007C>G (n.556-64007C>G) c.315C>G c.*320C>G (n.*320C>G) c.470C>G (p.Ser157Cys) n.259+2491G>C c.491C>G (p.Ser164Cys) c.380C>G (p.Ser127Cys) c.505-64007C>G (n.505-64007C>G) | |
| 10 | g.74525275C>T | CA377397854 | ADK | c.575C>T (p.Ser192Phe) c.524C>T (p.Ser175Phe) c.299C>T (p.Ser100Phe) c.556-64007C>T (n.556-64007C>T) c.315C>T c.*320C>T (n.*320C>T) c.470C>T (p.Ser157Phe) n.259+2491G>A c.491C>T (p.Ser164Phe) c.380C>T (p.Ser127Phe) c.505-64007C>T (n.505-64007C>T) | COSMIC |
| 10 | g.74525276C>A | CA470254777 | ADK | c.576C>A (p.Ser192=) c.525C>A (p.Ser175=) c.300C>A (p.Ser100=) c.556-64006C>A (n.556-64006C>A) c.316C>A c.*321C>A (n.*321C>A) c.471C>A (p.Ser157=) n.259+2490G>T c.492C>A (p.Ser164=) c.381C>A (p.Ser127=) c.505-64006C>A (n.505-64006C>A) | |
| 10 | g.74525276C= | CA1920088337 | ADK | c.576C= (p.Ser192=) c.525C= (p.Ser175=) c.300C= (p.Ser100=) c.556-64006C= (n.556-64006C=) c.316C= c.*321C= (n.*321C=) c.471C= (p.Ser157=) n.259+2490G= c.492C= (p.Ser164=) c.381C= (p.Ser127=) c.505-64006C= (n.505-64006C=) | |
| 10 | g.74525276C>G | CA470254778 | ADK | c.576C>G (p.Ser192=) c.525C>G (p.Ser175=) c.300C>G (p.Ser100=) c.556-64006C>G (n.556-64006C>G) c.316C>G c.*321C>G (n.*321C>G) c.471C>G (p.Ser157=) n.259+2490G>C c.492C>G (p.Ser164=) c.381C>G (p.Ser127=) c.505-64006C>G (n.505-64006C>G) | gnomAD v4 |
| 10 | g.74525276C>T | CA209874919 | ADK | c.576C>T (p.Ser192=) c.525C>T (p.Ser175=) c.300C>T (p.Ser100=) c.556-64006C>T (n.556-64006C>T) c.316C>T c.*321C>T (n.*321C>T) c.471C>T (p.Ser157=) n.259+2490G>A c.492C>T (p.Ser164=) c.381C>T (p.Ser127=) c.505-64006C>T (n.505-64006C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.74525277C>A | CA377397857 | ADK | c.577C>A (p.Pro193Thr) c.526C>A (p.Pro176Thr) c.301C>A (p.Pro101Thr) c.556-64005C>A (n.556-64005C>A) c.317C>A c.*322C>A (n.*322C>A) c.472C>A (p.Pro158Thr) n.259+2489G>T c.493C>A (p.Pro165Thr) c.382C>A (p.Pro128Thr) c.505-64005C>A (n.505-64005C>A) | |
| 10 | g.74525277C= | CA1920088340 | ADK | c.577C= (p.Pro193=) c.526C= (p.Pro176=) c.301C= (p.Pro101=) c.556-64005C= (n.556-64005C=) c.317C= c.*322C= (n.*322C=) c.472C= (p.Pro158=) n.259+2489G= c.493C= (p.Pro165=) c.382C= (p.Pro128=) c.505-64005C= (n.505-64005C=) | |
| 10 | g.74525277C>G | CA377397855 | ADK | c.577C>G (p.Pro193Ala) c.526C>G (p.Pro176Ala) c.301C>G (p.Pro101Ala) c.556-64005C>G (n.556-64005C>G) c.317C>G c.*322C>G (n.*322C>G) c.472C>G (p.Pro158Ala) n.259+2489G>C c.493C>G (p.Pro165Ala) c.382C>G (p.Pro128Ala) c.505-64005C>G (n.505-64005C>G) | dbSNP |
| 10 | g.74525277C>T | CA377397856 | ADK | c.577C>T (p.Pro193Ser) c.526C>T (p.Pro176Ser) c.301C>T (p.Pro101Ser) c.556-64005C>T (n.556-64005C>T) c.317C>T c.*322C>T (n.*322C>T) c.472C>T (p.Pro158Ser) n.259+2489G>A c.493C>T (p.Pro165Ser) c.382C>T (p.Pro128Ser) c.505-64005C>T (n.505-64005C>T) | |
| 10 | g.74525278C>A | CA377397858 | ADK | c.578C>A (p.Pro193Gln) c.527C>A (p.Pro176Gln) c.302C>A (p.Pro101Gln) c.556-64004C>A (n.556-64004C>A) c.318C>A c.*323C>A (n.*323C>A) c.473C>A (p.Pro158Gln) n.259+2488G>T c.494C>A (p.Pro165Gln) c.383C>A (p.Pro128Gln) c.505-64004C>A (n.505-64004C>A) | |
| 10 | g.74525278C>G | CA377397859 | ADK | c.578C>G (p.Pro193Arg) c.527C>G (p.Pro176Arg) c.302C>G (p.Pro101Arg) c.556-64004C>G (n.556-64004C>G) c.318C>G c.*323C>G (n.*323C>G) c.473C>G (p.Pro158Arg) n.259+2488G>C c.494C>G (p.Pro165Arg) c.383C>G (p.Pro128Arg) c.505-64004C>G (n.505-64004C>G) | gnomAD v4 |
| 10 | g.74525278C>T | CA377397860 | ADK | c.578C>T (p.Pro193Leu) c.527C>T (p.Pro176Leu) c.302C>T (p.Pro101Leu) c.556-64004C>T (n.556-64004C>T) c.318C>T c.*323C>T (n.*323C>T) c.473C>T (p.Pro158Leu) n.259+2488G>A c.494C>T (p.Pro165Leu) c.383C>T (p.Pro128Leu) c.505-64004C>T (n.505-64004C>T) | dbSNP COSMIC |
| 10 | g.74525279A>C | CA470254779 | ADK | c.579A>C (p.Pro193=) c.528A>C (p.Pro176=) c.303A>C (p.Pro101=) c.556-64003A>C (n.556-64003A>C) c.319A>C c.*324A>C (n.*324A>C) c.474A>C (p.Pro158=) n.259+2487T>G c.495A>C (p.Pro165=) c.384A>C (p.Pro128=) c.505-64003A>C (n.505-64003A>C) | |
| 10 | g.74525279A>G | CA470254780 | ADK | c.579A>G (p.Pro193=) c.528A>G (p.Pro176=) c.303A>G (p.Pro101=) c.556-64003A>G (n.556-64003A>G) c.319A>G c.*324A>G (n.*324A>G) c.474A>G (p.Pro158=) n.259+2487T>C c.495A>G (p.Pro165=) c.384A>G (p.Pro128=) c.505-64003A>G (n.505-64003A>G) | |
| 10 | g.74525279A>T | CA470254781 | ADK | c.579A>T (p.Pro193=) c.528A>T (p.Pro176=) c.303A>T (p.Pro101=) c.556-64003A>T (n.556-64003A>T) c.319A>T c.*324A>T (n.*324A>T) c.474A>T (p.Pro158=) n.259+2487T>A c.495A>T (p.Pro165=) c.384A>T (p.Pro128=) c.505-64003A>T (n.505-64003A>T) | |
| 10 | g.74525280G>A | CA377397861 | ADK | c.580G>A (p.Glu194Lys) c.529G>A (p.Glu177Lys) c.304G>A (p.Glu102Lys) c.556-64002G>A (n.556-64002G>A) c.320G>A c.*325G>A (n.*325G>A) c.475G>A (p.Glu159Lys) n.259+2486C>T c.496G>A (p.Glu166Lys) c.385G>A (p.Glu129Lys) c.505-64002G>A (n.505-64002G>A) | |
| 10 | g.74525280G>C | CA377397862 | ADK | c.580G>C (p.Glu194Gln) c.529G>C (p.Glu177Gln) c.304G>C (p.Glu102Gln) c.556-64002G>C (n.556-64002G>C) c.320G>C c.*325G>C (n.*325G>C) c.475G>C (p.Glu159Gln) n.259+2486C>G c.496G>C (p.Glu166Gln) c.385G>C (p.Glu129Gln) c.505-64002G>C (n.505-64002G>C) | |
| 10 | g.74525280G>T | CA377397863 | ADK | c.580G>T (p.Glu194Ter) c.529G>T (p.Glu177Ter) c.304G>T (p.Glu102Ter) c.556-64002G>T (n.556-64002G>T) c.320G>T c.*325G>T (n.*325G>T) c.475G>T (p.Glu159Ter) n.259+2486C>A c.496G>T (p.Glu166Ter) c.385G>T (p.Glu129Ter) c.505-64002G>T (n.505-64002G>T) | |
| 10 | g.74525281A= | CA1920088344 | ADK | c.581A= (p.Glu194=) c.530A= (p.Glu177=) c.305A= (p.Glu102=) c.556-64001A= (n.556-64001A=) c.321A= c.*326A= (n.*326A=) c.476A= (p.Glu159=) n.259+2485T= c.497A= (p.Glu166=) c.386A= (p.Glu129=) c.505-64001A= (n.505-64001A=) | |
| 10 | g.74525281A>C | CA377397864 | ADK | c.581A>C (p.Glu194Ala) c.530A>C (p.Glu177Ala) c.305A>C (p.Glu102Ala) c.556-64001A>C (n.556-64001A>C) c.321A>C c.*326A>C (n.*326A>C) c.476A>C (p.Glu159Ala) n.259+2485T>G c.497A>C (p.Glu166Ala) c.386A>C (p.Glu129Ala) c.505-64001A>C (n.505-64001A>C) | |
| 10 | g.74525281A>G | CA377397865 | ADK | c.581A>G (p.Glu194Gly) c.530A>G (p.Glu177Gly) c.305A>G (p.Glu102Gly) c.556-64001A>G (n.556-64001A>G) c.321A>G c.*326A>G (n.*326A>G) c.476A>G (p.Glu159Gly) n.259+2485T>C c.497A>G (p.Glu166Gly) c.386A>G (p.Glu129Gly) c.505-64001A>G (n.505-64001A>G) | dbSNP |
| 10 | g.74525281A>T | CA377397866 | ADK | c.581A>T (p.Glu194Val) c.530A>T (p.Glu177Val) c.305A>T (p.Glu102Val) c.556-64001A>T (n.556-64001A>T) c.321A>T c.*326A>T (n.*326A>T) c.476A>T (p.Glu159Val) n.259+2485T>A c.497A>T (p.Glu166Val) c.386A>T (p.Glu129Val) c.505-64001A>T (n.505-64001A>T) | |
| 10 | g.74525282G>A | CA470254782 | ADK | c.582G>A (p.Glu194=) c.531G>A (p.Glu177=) c.306G>A (p.Glu102=) c.556-64000G>A (n.556-64000G>A) c.322G>A c.*327G>A (n.*327G>A) c.477G>A (p.Glu159=) n.259+2484C>T c.498G>A (p.Glu166=) c.387G>A (p.Glu129=) c.505-64000G>A (n.505-64000G>A) | dbSNP |
| 10 | g.74525282G>C | CA377397867 | ADK | c.582G>C (p.Glu194Asp) c.531G>C (p.Glu177Asp) c.306G>C (p.Glu102Asp) c.556-64000G>C (n.556-64000G>C) c.322G>C c.*327G>C (n.*327G>C) c.477G>C (p.Glu159Asp) n.259+2484C>G c.498G>C (p.Glu166Asp) c.387G>C (p.Glu129Asp) c.505-64000G>C (n.505-64000G>C) | |
| 10 | g.74525282G= | CA1920088347 | ADK | c.582G= (p.Glu194=) c.531G= (p.Glu177=) c.306G= (p.Glu102=) c.556-64000G= (n.556-64000G=) c.322G= c.*327G= (n.*327G=) c.477G= (p.Glu159=) n.259+2484C= c.498G= (p.Glu166=) c.387G= (p.Glu129=) c.505-64000G= (n.505-64000G=) | |
| 10 | g.74525282G>T | CA377397868 | ADK | c.582G>T (p.Glu194Asp) c.531G>T (p.Glu177Asp) c.306G>T (p.Glu102Asp) c.556-64000G>T (n.556-64000G>T) c.322G>T c.*327G>T (n.*327G>T) c.477G>T (p.Glu159Asp) n.259+2484C>A c.498G>T (p.Glu166Asp) c.387G>T (p.Glu129Asp) c.505-64000G>T (n.505-64000G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.74525283T>A | CA377397871 | ADK | c.583T>A (p.Ser195Thr) c.532T>A (p.Ser178Thr) c.307T>A (p.Ser103Thr) c.556-63999T>A (n.556-63999T>A) c.323T>A c.*328T>A (n.*328T>A) c.478T>A (p.Ser160Thr) n.259+2483A>T c.499T>A (p.Ser167Thr) c.388T>A (p.Ser130Thr) c.505-63999T>A (n.505-63999T>A) | dbSNP |
| 10 | g.74525283T>C | CA377397870 | ADK | c.583T>C (p.Ser195Pro) c.532T>C (p.Ser178Pro) c.307T>C (p.Ser103Pro) c.556-63999T>C (n.556-63999T>C) c.323T>C c.*328T>C (n.*328T>C) c.478T>C (p.Ser160Pro) n.259+2483A>G c.499T>C (p.Ser167Pro) c.388T>C (p.Ser130Pro) c.505-63999T>C (n.505-63999T>C) | |
| 10 | g.74525283T>G | CA377397869 | ADK | c.583T>G (p.Ser195Ala) c.532T>G (p.Ser178Ala) c.307T>G (p.Ser103Ala) c.556-63999T>G (n.556-63999T>G) c.323T>G c.*328T>G (n.*328T>G) c.478T>G (p.Ser160Ala) n.259+2483A>C c.499T>G (p.Ser167Ala) c.388T>G (p.Ser130Ala) c.505-63999T>G (n.505-63999T>G) | |
| 10 | g.74525284C>A | CA377397872 | ADK | c.584C>A (p.Ser195Ter) c.533C>A (p.Ser178Ter) c.308C>A (p.Ser103Ter) c.556-63998C>A (n.556-63998C>A) c.324C>A c.*329C>A (n.*329C>A) c.479C>A (p.Ser160Ter) n.259+2482G>T c.500C>A (p.Ser167Ter) c.389C>A (p.Ser130Ter) c.505-63998C>A (n.505-63998C>A) | |
| 10 | g.74525284C>G | CA377397873 | ADK | c.584C>G (p.Ser195Ter) c.533C>G (p.Ser178Ter) c.308C>G (p.Ser103Ter) c.556-63998C>G (n.556-63998C>G) c.324C>G c.*329C>G (n.*329C>G) c.479C>G (p.Ser160Ter) n.259+2482G>C c.500C>G (p.Ser167Ter) c.389C>G (p.Ser130Ter) c.505-63998C>G (n.505-63998C>G) | |
| 10 | g.74525284C>T | CA377397874 | ADK | c.584C>T (p.Ser195Leu) c.533C>T (p.Ser178Leu) c.308C>T (p.Ser103Leu) c.556-63998C>T (n.556-63998C>T) c.324C>T c.*329C>T (n.*329C>T) c.479C>T (p.Ser160Leu) n.259+2482G>A c.500C>T (p.Ser167Leu) c.389C>T (p.Ser130Leu) c.505-63998C>T (n.505-63998C>T) | |
| 10 | g.74525285A>C | CA470254783 | ADK | c.585A>C (p.Ser195=) c.534A>C (p.Ser178=) c.309A>C (p.Ser103=) c.556-63997A>C (n.556-63997A>C) c.325A>C c.*330A>C (n.*330A>C) c.480A>C (p.Ser160=) n.259+2481T>G c.501A>C (p.Ser167=) c.390A>C (p.Ser130=) c.505-63997A>C (n.505-63997A>C) | |
| 10 | g.74525285A>G | CA470254784 | ADK | c.585A>G (p.Ser195=) c.534A>G (p.Ser178=) c.309A>G (p.Ser103=) c.556-63997A>G (n.556-63997A>G) c.325A>G c.*330A>G (n.*330A>G) c.480A>G (p.Ser160=) n.259+2481T>C c.501A>G (p.Ser167=) c.390A>G (p.Ser130=) c.505-63997A>G (n.505-63997A>G) | gnomAD v4 |
| 10 | g.74525285A>T | CA470254785 | ADK | c.585A>T (p.Ser195=) c.534A>T (p.Ser178=) c.309A>T (p.Ser103=) c.556-63997A>T (n.556-63997A>T) c.325A>T c.*330A>T (n.*330A>T) c.480A>T (p.Ser160=) n.259+2481T>A c.501A>T (p.Ser167=) c.390A>T (p.Ser130=) c.505-63997A>T (n.505-63997A>T) | |
| 10 | g.74525286G>A | CA209874920 | ADK | c.586G>A (p.Val196Ile) c.535G>A (p.Val179Ile) c.310G>A (p.Val104Ile) c.556-63996G>A (n.556-63996G>A) c.326G>A c.*331G>A (n.*331G>A) c.481G>A (p.Val161Ile) n.259+2480C>T c.502G>A (p.Val168Ile) c.391G>A (p.Val131Ile) c.505-63996G>A (n.505-63996G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.74525286G>C | CA377397875 | ADK | c.586G>C (p.Val196Leu) c.535G>C (p.Val179Leu) c.310G>C (p.Val104Leu) c.556-63996G>C (n.556-63996G>C) c.326G>C c.*331G>C (n.*331G>C) c.481G>C (p.Val161Leu) n.259+2480C>G c.502G>C (p.Val168Leu) c.391G>C (p.Val131Leu) c.505-63996G>C (n.505-63996G>C) | dbSNP |
| 10 | g.74525286G= | CA1920088351 | ADK | c.586G= (p.Val196=) c.535G= (p.Val179=) c.310G= (p.Val104=) c.556-63996G= (n.556-63996G=) c.326G= c.*331G= (n.*331G=) c.481G= (p.Val161=) n.259+2480C= c.502G= (p.Val168=) c.391G= (p.Val131=) c.505-63996G= (n.505-63996G=) | |
| 10 | g.74525286G>T | CA377397876 | ADK | c.586G>T (p.Val196Leu) c.535G>T (p.Val179Leu) c.310G>T (p.Val104Leu) c.556-63996G>T (n.556-63996G>T) c.326G>T c.*331G>T (n.*331G>T) c.481G>T (p.Val161Leu) n.259+2480C>A c.502G>T (p.Val168Leu) c.391G>T (p.Val131Leu) c.505-63996G>T (n.505-63996G>T) | |
| 10 | g.74525287T>A | CA377397877 | ADK | c.587T>A (p.Val196Glu) c.536T>A (p.Val179Glu) c.311T>A (p.Val104Glu) c.556-63995T>A (n.556-63995T>A) c.327T>A c.*332T>A (n.*332T>A) c.482T>A (p.Val161Glu) n.259+2479A>T c.503T>A (p.Val168Glu) c.392T>A (p.Val131Glu) c.505-63995T>A (n.505-63995T>A) | |
| 10 | g.74525287T>C | CA377397878 | ADK | c.587T>C (p.Val196Ala) c.536T>C (p.Val179Ala) c.311T>C (p.Val104Ala) c.556-63995T>C (n.556-63995T>C) c.327T>C c.*332T>C (n.*332T>C) c.482T>C (p.Val161Ala) n.259+2479A>G c.503T>C (p.Val168Ala) c.392T>C (p.Val131Ala) c.505-63995T>C (n.505-63995T>C) | |
| 10 | g.74525287T>G | CA377397879 | ADK | c.587T>G (p.Val196Gly) c.536T>G (p.Val179Gly) c.311T>G (p.Val104Gly) c.556-63995T>G (n.556-63995T>G) c.327T>G c.*332T>G (n.*332T>G) c.482T>G (p.Val161Gly) n.259+2479A>C c.503T>G (p.Val168Gly) c.392T>G (p.Val131Gly) c.505-63995T>G (n.505-63995T>G) | |
| 10 | g.74525288A>C | CA470254788 | ADK | c.588A>C (p.Val196=) c.537A>C (p.Val179=) c.312A>C (p.Val104=) c.556-63994A>C (n.556-63994A>C) c.328A>C c.*333A>C (n.*333A>C) c.483A>C (p.Val161=) n.259+2478T>G c.504A>C (p.Val168=) c.393A>C (p.Val131=) c.505-63994A>C (n.505-63994A>C) | |
| 10 | g.74525288A>G | CA470254787 | ADK | c.588A>G (p.Val196=) c.537A>G (p.Val179=) c.312A>G (p.Val104=) c.556-63994A>G (n.556-63994A>G) c.328A>G c.*333A>G (n.*333A>G) c.483A>G (p.Val161=) n.259+2478T>C c.504A>G (p.Val168=) c.393A>G (p.Val131=) c.505-63994A>G (n.505-63994A>G) | |
| 10 | g.74525288A>T | CA470254786 | ADK | c.588A>T (p.Val196=) c.537A>T (p.Val179=) c.312A>T (p.Val104=) c.556-63994A>T (n.556-63994A>T) c.328A>T c.*333A>T (n.*333A>T) c.483A>T (p.Val161=) n.259+2478T>A c.504A>T (p.Val168=) c.393A>T (p.Val131=) c.505-63994A>T (n.505-63994A>T) | |
| 10 | g.74525289T>A | CA377397880 | ADK | c.589T>A (p.Leu197Ile) c.538T>A (p.Leu180Ile) c.313T>A (p.Leu105Ile) c.556-63993T>A (n.556-63993T>A) c.329T>A c.*334T>A (n.*334T>A) c.484T>A (p.Leu162Ile) n.259+2477A>T c.505T>A (p.Leu169Ile) c.394T>A (p.Leu132Ile) c.505-63993T>A (n.505-63993T>A) | |
| 10 | g.74525289T>C | CA470254789 | ADK | c.589T>C (p.Leu197=) c.538T>C (p.Leu180=) c.313T>C (p.Leu105=) c.556-63993T>C (n.556-63993T>C) c.329T>C c.*334T>C (n.*334T>C) c.484T>C (p.Leu162=) n.259+2477A>G c.505T>C (p.Leu169=) c.394T>C (p.Leu132=) c.505-63993T>C (n.505-63993T>C) | |
| 10 | g.74525289T>G | CA377397881 | ADK | c.589T>G (p.Leu197Val) c.538T>G (p.Leu180Val) c.313T>G (p.Leu105Val) c.556-63993T>G (n.556-63993T>G) c.329T>G c.*334T>G (n.*334T>G) c.484T>G (p.Leu162Val) n.259+2477A>C c.505T>G (p.Leu169Val) c.394T>G (p.Leu132Val) c.505-63993T>G (n.505-63993T>G) | |
| 10 | g.74525290T>A | CA377397882 | ADK | c.590T>A (p.Leu197Ter) c.539T>A (p.Leu180Ter) c.314T>A (p.Leu105Ter) c.556-63992T>A (n.556-63992T>A) c.330T>A c.*335T>A (n.*335T>A) c.485T>A (p.Leu162Ter) n.259+2476A>T c.506T>A (p.Leu169Ter) c.395T>A (p.Leu132Ter) c.505-63992T>A (n.505-63992T>A) | |
| 10 | g.74525290T>C | CA377397883 | ADK | c.590T>C (p.Leu197Ser) c.539T>C (p.Leu180Ser) c.314T>C (p.Leu105Ser) c.556-63992T>C (n.556-63992T>C) c.330T>C c.*335T>C (n.*335T>C) c.485T>C (p.Leu162Ser) n.259+2476A>G c.506T>C (p.Leu169Ser) c.395T>C (p.Leu132Ser) c.505-63992T>C (n.505-63992T>C) | |
| 10 | g.74525290T>G | CA377397884 | ADK | c.590T>G (p.Leu197Ter) c.539T>G (p.Leu180Ter) c.314T>G (p.Leu105Ter) c.556-63992T>G (n.556-63992T>G) c.330T>G c.*335T>G (n.*335T>G) c.485T>G (p.Leu162Ter) n.259+2476A>C c.506T>G (p.Leu169Ter) c.395T>G (p.Leu132Ter) c.505-63992T>G (n.505-63992T>G) | |
| 10 | g.74525291A>C | CA377397885 | ADK | c.591A>C (p.Leu197Phe) c.540A>C (p.Leu180Phe) c.315A>C (p.Leu105Phe) c.556-63991A>C (n.556-63991A>C) c.331A>C c.*336A>C (n.*336A>C) c.486A>C (p.Leu162Phe) n.259+2475T>G c.507A>C (p.Leu169Phe) c.396A>C (p.Leu132Phe) c.505-63991A>C (n.505-63991A>C) | |
| 10 | g.74525291A>G | CA470254790 | ADK | c.591A>G (p.Leu197=) c.540A>G (p.Leu180=) c.315A>G (p.Leu105=) c.556-63991A>G (n.556-63991A>G) c.331A>G c.*336A>G (n.*336A>G) c.486A>G (p.Leu162=) n.259+2475T>C c.507A>G (p.Leu169=) c.396A>G (p.Leu132=) c.505-63991A>G (n.505-63991A>G) | |
| 10 | g.74525291A>T | CA377397886 | ADK | c.591A>T (p.Leu197Phe) c.540A>T (p.Leu180Phe) c.315A>T (p.Leu105Phe) c.556-63991A>T (n.556-63991A>T) c.331A>T c.*336A>T (n.*336A>T) c.486A>T (p.Leu162Phe) n.259+2475T>A c.507A>T (p.Leu169Phe) c.396A>T (p.Leu132Phe) c.505-63991A>T (n.505-63991A>T) | |
| 10 | g.74525292A>C | CA377397887 | ADK | c.592A>C (p.Lys198Gln) c.541A>C (p.Lys181Gln) c.316A>C (p.Lys106Gln) c.556-63990A>C (n.556-63990A>C) c.332A>C c.*337A>C (n.*337A>C) c.487A>C (p.Lys163Gln) n.259+2474T>G c.508A>C (p.Lys170Gln) c.397A>C (p.Lys133Gln) c.505-63990A>C (n.505-63990A>C) | |
| 10 | g.74525292A>G | CA377397888 | ADK | c.592A>G (p.Lys198Glu) c.541A>G (p.Lys181Glu) c.316A>G (p.Lys106Glu) c.556-63990A>G (n.556-63990A>G) c.332A>G c.*337A>G (n.*337A>G) c.487A>G (p.Lys163Glu) n.259+2474T>C c.508A>G (p.Lys170Glu) c.397A>G (p.Lys133Glu) c.505-63990A>G (n.505-63990A>G) | |
| 10 | g.74525292A>T | CA377397889 | ADK | c.592A>T (p.Lys198Ter) c.541A>T (p.Lys181Ter) c.316A>T (p.Lys106Ter) c.556-63990A>T (n.556-63990A>T) c.332A>T c.*337A>T (n.*337A>T) c.487A>T (p.Lys163Ter) n.259+2474T>A c.508A>T (p.Lys170Ter) c.397A>T (p.Lys133Ter) c.505-63990A>T (n.505-63990A>T) | |
| 10 | g.74525293A>C | CA377397890 | ADK | c.593A>C (p.Lys198Thr) c.542A>C (p.Lys181Thr) c.317A>C (p.Lys106Thr) c.556-63989A>C (n.556-63989A>C) c.333A>C c.*338A>C (n.*338A>C) c.488A>C (p.Lys163Thr) n.259+2473T>G c.509A>C (p.Lys170Thr) c.398A>C (p.Lys133Thr) c.505-63989A>C (n.505-63989A>C) | |
| 10 | g.74525293A>G | CA377397891 | ADK | c.593A>G (p.Lys198Arg) c.542A>G (p.Lys181Arg) c.317A>G (p.Lys106Arg) c.556-63989A>G (n.556-63989A>G) c.333A>G c.*338A>G (n.*338A>G) c.488A>G (p.Lys163Arg) n.259+2473T>C c.509A>G (p.Lys170Arg) c.398A>G (p.Lys133Arg) c.505-63989A>G (n.505-63989A>G) | |
| 10 | g.74525293A>T | CA377397892 | ADK | c.593A>T (p.Lys198Met) c.542A>T (p.Lys181Met) c.317A>T (p.Lys106Met) c.556-63989A>T (n.556-63989A>T) c.333A>T c.*338A>T (n.*338A>T) c.488A>T (p.Lys163Met) n.259+2473T>A c.509A>T (p.Lys170Met) c.398A>T (p.Lys133Met) c.505-63989A>T (n.505-63989A>T) | |
| 10 | g.74525294G>A | CA470254791 | ADK | c.594G>A (p.Lys198=) c.543G>A (p.Lys181=) c.318G>A (p.Lys106=) c.556-63988G>A (n.556-63988G>A) c.334G>A c.*339G>A (n.*339G>A) c.489G>A (p.Lys163=) n.259+2472C>T c.510G>A (p.Lys170=) c.399G>A (p.Lys133=) c.505-63988G>A (n.505-63988G>A) | dbSNP |
| 10 | g.74525294G>C | CA377397893 | ADK | c.594G>C (p.Lys198Asn) c.543G>C (p.Lys181Asn) c.318G>C (p.Lys106Asn) c.556-63988G>C (n.556-63988G>C) c.334G>C c.*339G>C (n.*339G>C) c.489G>C (p.Lys163Asn) n.259+2472C>G c.510G>C (p.Lys170Asn) c.399G>C (p.Lys133Asn) c.505-63988G>C (n.505-63988G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.74525294G= | CA1920088354 | ADK | c.594G= (p.Lys198=) c.543G= (p.Lys181=) c.318G= (p.Lys106=) c.556-63988G= (n.556-63988G=) c.334G= c.*339G= (n.*339G=) c.489G= (p.Lys163=) n.259+2472C= c.510G= (p.Lys170=) c.399G= (p.Lys133=) c.505-63988G= (n.505-63988G=) | |
| 10 | g.74525294G>T | CA377397894 | ADK | c.594G>T (p.Lys198Asn) c.543G>T (p.Lys181Asn) c.318G>T (p.Lys106Asn) c.556-63988G>T (n.556-63988G>T) c.334G>T c.*339G>T (n.*339G>T) c.489G>T (p.Lys163Asn) n.259+2472C>A c.510G>T (p.Lys170Asn) c.399G>T (p.Lys133Asn) c.505-63988G>T (n.505-63988G>T) | |
| 10 | g.74525295G>A | CA377397895 | ADK | c.595G>A (p.Val199Met) c.544G>A (p.Val182Met) c.319G>A (p.Val107Met) c.556-63987G>A (n.556-63987G>A) c.335G>A c.*340G>A (n.*340G>A) c.490G>A (p.Val164Met) n.259+2471C>T c.511G>A (p.Val171Met) c.400G>A (p.Val134Met) c.505-63987G>A (n.505-63987G>A) | dbSNP |
| 10 | g.74525295G>C | CA377397896 | ADK | c.595G>C (p.Val199Leu) c.544G>C (p.Val182Leu) c.319G>C (p.Val107Leu) c.556-63987G>C (n.556-63987G>C) c.335G>C c.*340G>C (n.*340G>C) c.490G>C (p.Val164Leu) n.259+2471C>G c.511G>C (p.Val171Leu) c.400G>C (p.Val134Leu) c.505-63987G>C (n.505-63987G>C) | |
| 10 | g.74525295G= | CA1920088357 | ADK | c.595G= (p.Val199=) c.544G= (p.Val182=) c.319G= (p.Val107=) c.556-63987G= (n.556-63987G=) c.335G= c.*340G= (n.*340G=) c.490G= (p.Val164=) n.259+2471C= c.511G= (p.Val171=) c.400G= (p.Val134=) c.505-63987G= (n.505-63987G=) | |
| 10 | g.74525295G>T | CA377397897 | ADK | c.595G>T (p.Val199Leu) c.544G>T (p.Val182Leu) c.319G>T (p.Val107Leu) c.556-63987G>T (n.556-63987G>T) c.335G>T c.*340G>T (n.*340G>T) c.490G>T (p.Val164Leu) n.259+2471C>A c.511G>T (p.Val171Leu) c.400G>T (p.Val134Leu) c.505-63987G>T (n.505-63987G>T) | |
| 10 | g.74525296T>A | CA377397898 | ADK | c.596T>A (p.Val199Glu) c.545T>A (p.Val182Glu) c.320T>A (p.Val107Glu) c.556-63986T>A (n.556-63986T>A) c.336T>A c.*341T>A (n.*341T>A) c.491T>A (p.Val164Glu) n.259+2470A>T c.512T>A (p.Val171Glu) c.401T>A (p.Val134Glu) c.505-63986T>A (n.505-63986T>A) | |
| 10 | g.74525296T>C | CA377397900 | ADK | c.596T>C (p.Val199Ala) c.545T>C (p.Val182Ala) c.320T>C (p.Val107Ala) c.556-63986T>C (n.556-63986T>C) c.336T>C c.*341T>C (n.*341T>C) c.491T>C (p.Val164Ala) n.259+2470A>G c.512T>C (p.Val171Ala) c.401T>C (p.Val134Ala) c.505-63986T>C (n.505-63986T>C) | |
| 10 | g.74525296T>G | CA377397899 | ADK | c.596T>G (p.Val199Gly) c.545T>G (p.Val182Gly) c.320T>G (p.Val107Gly) c.556-63986T>G (n.556-63986T>G) c.336T>G c.*341T>G (n.*341T>G) c.491T>G (p.Val164Gly) n.259+2470A>C c.512T>G (p.Val171Gly) c.401T>G (p.Val134Gly) c.505-63986T>G (n.505-63986T>G) | |
| 10 | g.74525297G>A | CA470254792 | ADK | c.597G>A (p.Val199=) c.546G>A (p.Val182=) c.321G>A (p.Val107=) c.556-63985G>A (n.556-63985G>A) c.337G>A c.*342G>A (n.*342G>A) c.492G>A (p.Val164=) n.259+2469C>T c.513G>A (p.Val171=) c.402G>A (p.Val134=) c.505-63985G>A (n.505-63985G>A) | |
| 10 | g.74525297G>C | CA470254793 | ADK | c.597G>C (p.Val199=) c.546G>C (p.Val182=) c.321G>C (p.Val107=) c.556-63985G>C (n.556-63985G>C) c.337G>C c.*342G>C (n.*342G>C) c.492G>C (p.Val164=) n.259+2469C>G c.513G>C (p.Val171=) c.402G>C (p.Val134=) c.505-63985G>C (n.505-63985G>C) | |
| 10 | g.74525297G>T | CA470254794 | ADK | c.597G>T (p.Val199=) c.546G>T (p.Val182=) c.321G>T (p.Val107=) c.556-63985G>T (n.556-63985G>T) c.337G>T c.*342G>T (n.*342G>T) c.492G>T (p.Val164=) n.259+2469C>A c.513G>T (p.Val171=) c.402G>T (p.Val134=) c.505-63985G>T (n.505-63985G>T) | |
| 10 | g.74525298G>A | CA377397901 | ADK | c.598G>A (p.Ala200Thr) c.547G>A (p.Ala183Thr) c.322G>A (p.Ala108Thr) c.556-63984G>A (n.556-63984G>A) c.338G>A c.*343G>A (n.*343G>A) c.493G>A (p.Ala165Thr) n.259+2468C>T c.514G>A (p.Ala172Thr) c.403G>A (p.Ala135Thr) c.505-63984G>A (n.505-63984G>A) | |
| 10 | g.74525298G>C | CA377397903 | ADK | c.598G>C (p.Ala200Pro) c.547G>C (p.Ala183Pro) c.322G>C (p.Ala108Pro) c.556-63984G>C (n.556-63984G>C) c.338G>C c.*343G>C (n.*343G>C) c.493G>C (p.Ala165Pro) n.259+2468C>G c.514G>C (p.Ala172Pro) c.403G>C (p.Ala135Pro) c.505-63984G>C (n.505-63984G>C) | |
| 10 | g.74525298G>T | CA377397902 | ADK | c.598G>T (p.Ala200Ser) c.547G>T (p.Ala183Ser) c.322G>T (p.Ala108Ser) c.556-63984G>T (n.556-63984G>T) c.338G>T c.*343G>T (n.*343G>T) c.493G>T (p.Ala165Ser) n.259+2468C>A c.514G>T (p.Ala172Ser) c.403G>T (p.Ala135Ser) c.505-63984G>T (n.505-63984G>T) | |
| 10 | g.74525299C>A | CA377397904 | ADK | c.599C>A (p.Ala200Asp) c.548C>A (p.Ala183Asp) c.323C>A (p.Ala108Asp) c.556-63983C>A (n.556-63983C>A) c.339C>A c.*344C>A (n.*344C>A) c.494C>A (p.Ala165Asp) n.259+2467G>T c.515C>A (p.Ala172Asp) c.404C>A (p.Ala135Asp) c.505-63983C>A (n.505-63983C>A) | |
| 10 | g.74525299C>G | CA377397906 | ADK | c.599C>G (p.Ala200Gly) c.548C>G (p.Ala183Gly) c.323C>G (p.Ala108Gly) c.556-63983C>G (n.556-63983C>G) c.339C>G c.*344C>G (n.*344C>G) c.494C>G (p.Ala165Gly) n.259+2467G>C c.515C>G (p.Ala172Gly) c.404C>G (p.Ala135Gly) c.505-63983C>G (n.505-63983C>G) | |
| 10 | g.74525299C>T | CA377397905 | ADK | c.599C>T (p.Ala200Val) c.548C>T (p.Ala183Val) c.323C>T (p.Ala108Val) c.556-63983C>T (n.556-63983C>T) c.339C>T c.*344C>T (n.*344C>T) c.494C>T (p.Ala165Val) n.259+2467G>A c.515C>T (p.Ala172Val) c.404C>T (p.Ala135Val) c.505-63983C>T (n.505-63983C>T) | |
| 10 | g.74525300T>A | CA470254795 | ADK | c.600T>A (p.Ala200=) c.549T>A (p.Ala183=) c.324T>A (p.Ala108=) c.556-63982T>A (n.556-63982T>A) c.340T>A c.*345T>A (n.*345T>A) c.495T>A (p.Ala165=) n.259+2466A>T c.516T>A (p.Ala172=) c.405T>A (p.Ala135=) c.505-63982T>A (n.505-63982T>A) | |
| 10 | g.74525300T>C | CA470254796 | ADK | c.600T>C (p.Ala200=) c.549T>C (p.Ala183=) c.324T>C (p.Ala108=) c.556-63982T>C (n.556-63982T>C) c.340T>C c.*345T>C (n.*345T>C) c.495T>C (p.Ala165=) n.259+2466A>G c.516T>C (p.Ala172=) c.405T>C (p.Ala135=) c.505-63982T>C (n.505-63982T>C) | |
| 10 | g.74525300T>G | CA470254797 | ADK | c.600T>G (p.Ala200=) c.549T>G (p.Ala183=) c.324T>G (p.Ala108=) c.556-63982T>G (n.556-63982T>G) c.340T>G c.*345T>G (n.*345T>G) c.495T>G (p.Ala165=) n.259+2466A>C c.516T>G (p.Ala172=) c.405T>G (p.Ala135=) c.505-63982T>G (n.505-63982T>G) | dbSNP |
| 10 | g.74525300T= | CA1920088360 | ADK | c.600T= (p.Ala200=) c.549T= (p.Ala183=) c.324T= (p.Ala108=) c.556-63982T= (n.556-63982T=) c.340T= c.*345T= (n.*345T=) c.495T= (p.Ala165=) n.259+2466A= c.516T= (p.Ala172=) c.405T= (p.Ala135=) c.505-63982T= (n.505-63982T=) | |
| 10 | g.74525301C>A | CA377397907 | ADK | c.601C>A (p.His201Asn) c.550C>A (p.His184Asn) c.325C>A (p.His109Asn) c.556-63981C>A (n.556-63981C>A) c.341C>A c.*346C>A (n.*346C>A) c.496C>A (p.His166Asn) n.259+2465G>T c.517C>A (p.His173Asn) c.406C>A (p.His136Asn) c.505-63981C>A (n.505-63981C>A) | |
| 10 | g.74525301C= | CA1920088365 | ADK | c.601C= (p.His201=) c.550C= (p.His184=) c.325C= (p.His109=) c.556-63981C= (n.556-63981C=) c.341C= c.*346C= (n.*346C=) c.496C= (p.His166=) n.259+2465G= c.517C= (p.His173=) c.406C= (p.His136=) c.505-63981C= (n.505-63981C=) | |
| 10 | g.74525301C>G | CA377397908 | ADK | c.601C>G (p.His201Asp) c.550C>G (p.His184Asp) c.325C>G (p.His109Asp) c.556-63981C>G (n.556-63981C>G) c.341C>G c.*346C>G (n.*346C>G) c.496C>G (p.His166Asp) n.259+2465G>C c.517C>G (p.His173Asp) c.406C>G (p.His136Asp) c.505-63981C>G (n.505-63981C>G) | |
| 10 | g.74525301C>T | CA209874921 | ADK | c.601C>T (p.His201Tyr) c.550C>T (p.His184Tyr) c.325C>T (p.His109Tyr) c.556-63981C>T (n.556-63981C>T) c.341C>T c.*346C>T (n.*346C>T) c.496C>T (p.His166Tyr) n.259+2465G>A c.517C>T (p.His173Tyr) c.406C>T (p.His136Tyr) c.505-63981C>T (n.505-63981C>T) | dbSNP |
| 10 | g.74525302A>C | CA377397909 | ADK | c.602A>C (p.His201Pro) c.551A>C (p.His184Pro) c.326A>C (p.His109Pro) c.556-63980A>C (n.556-63980A>C) c.342A>C c.*347A>C (n.*347A>C) c.497A>C (p.His166Pro) n.259+2464T>G c.518A>C (p.His173Pro) c.407A>C (p.His136Pro) c.505-63980A>C (n.505-63980A>C) | |
| 10 | g.74525302A>G | CA377397910 | ADK | c.602A>G (p.His201Arg) c.551A>G (p.His184Arg) c.326A>G (p.His109Arg) c.556-63980A>G (n.556-63980A>G) c.342A>G c.*347A>G (n.*347A>G) c.497A>G (p.His166Arg) n.259+2464T>C c.518A>G (p.His173Arg) c.407A>G (p.His136Arg) c.505-63980A>G (n.505-63980A>G) | |
| 10 | g.74525302A>T | CA377397911 | ADK | c.602A>T (p.His201Leu) c.551A>T (p.His184Leu) c.326A>T (p.His109Leu) c.556-63980A>T (n.556-63980A>T) c.342A>T c.*347A>T (n.*347A>T) c.497A>T (p.His166Leu) n.259+2464T>A c.518A>T (p.His173Leu) c.407A>T (p.His136Leu) c.505-63980A>T (n.505-63980A>T) | |
| 10 | g.74525303C>A | CA377397912 | ADK | c.603C>A (p.His201Gln) c.552C>A (p.His184Gln) c.327C>A (p.His109Gln) c.556-63979C>A (n.556-63979C>A) c.343C>A c.*348C>A (n.*348C>A) c.498C>A (p.His166Gln) n.259+2463G>T c.519C>A (p.His173Gln) c.408C>A (p.His136Gln) c.505-63979C>A (n.505-63979C>A) | |
| 10 | g.74525303C= | CA1920088369 | ADK | c.603C= (p.His201=) c.552C= (p.His184=) c.327C= (p.His109=) c.556-63979C= (n.556-63979C=) c.343C= c.*348C= (n.*348C=) c.498C= (p.His166=) n.259+2463G= c.519C= (p.His173=) c.408C= (p.His136=) c.505-63979C= (n.505-63979C=) | |
| 10 | g.74525303C>G | CA377397913 | ADK | c.603C>G (p.His201Gln) c.552C>G (p.His184Gln) c.327C>G (p.His109Gln) c.556-63979C>G (n.556-63979C>G) c.343C>G c.*348C>G (n.*348C>G) c.498C>G (p.His166Gln) n.259+2463G>C c.519C>G (p.His173Gln) c.408C>G (p.His136Gln) c.505-63979C>G (n.505-63979C>G) | |
| 10 | g.74525303C>T | CA470254798 | ADK | c.603C>T (p.His201=) c.552C>T (p.His184=) c.327C>T (p.His109=) c.556-63979C>T (n.556-63979C>T) c.343C>T c.*348C>T (n.*348C>T) c.498C>T (p.His166=) n.259+2463G>A c.519C>T (p.His173=) c.408C>T (p.His136=) c.505-63979C>T (n.505-63979C>T) | dbSNP |
| 10 | g.74525304C>A | CA377397914 | ADK | c.604C>A (p.His202Asn) c.553C>A (p.His185Asn) c.328C>A (p.His110Asn) c.556-63978C>A (n.556-63978C>A) c.344C>A c.*349C>A (n.*349C>A) c.499C>A (p.His167Asn) n.259+2462G>T c.520C>A (p.His174Asn) c.409C>A (p.His137Asn) c.505-63978C>A (n.505-63978C>A) | |
| 10 | g.74525304C>G | CA377397915 | ADK | c.604C>G (p.His202Asp) c.553C>G (p.His185Asp) c.328C>G (p.His110Asp) c.556-63978C>G (n.556-63978C>G) c.344C>G c.*349C>G (n.*349C>G) c.499C>G (p.His167Asp) n.259+2462G>C c.520C>G (p.His174Asp) c.409C>G (p.His137Asp) c.505-63978C>G (n.505-63978C>G) | |
| 10 | g.74525304C>T | CA377397916 | ADK | c.604C>T (p.His202Tyr) c.553C>T (p.His185Tyr) c.328C>T (p.His110Tyr) c.556-63978C>T (n.556-63978C>T) c.344C>T c.*349C>T (n.*349C>T) c.499C>T (p.His167Tyr) n.259+2462G>A c.520C>T (p.His174Tyr) c.409C>T (p.His137Tyr) c.505-63978C>T (n.505-63978C>T) | gnomAD v4 |
| 10 | g.74525305A>C | CA377397919 | ADK | c.605A>C (p.His202Pro) c.554A>C (p.His185Pro) c.329A>C (p.His110Pro) c.556-63977A>C (n.556-63977A>C) c.345A>C c.*350A>C (n.*350A>C) c.500A>C (p.His167Pro) n.259+2461T>G c.521A>C (p.His174Pro) c.410A>C (p.His137Pro) c.505-63977A>C (n.505-63977A>C) | |
| 10 | g.74525305A>G | CA377397918 | ADK | c.605A>G (p.His202Arg) c.554A>G (p.His185Arg) c.329A>G (p.His110Arg) c.556-63977A>G (n.556-63977A>G) c.345A>G c.*350A>G (n.*350A>G) c.500A>G (p.His167Arg) n.259+2461T>C c.521A>G (p.His174Arg) c.410A>G (p.His137Arg) c.505-63977A>G (n.505-63977A>G) | gnomAD v4 |
| 10 | g.74525305A>T | CA377397917 | ADK | c.605A>T (p.His202Leu) c.554A>T (p.His185Leu) c.329A>T (p.His110Leu) c.556-63977A>T (n.556-63977A>T) c.345A>T c.*350A>T (n.*350A>T) c.500A>T (p.His167Leu) n.259+2461T>A c.521A>T (p.His174Leu) c.410A>T (p.His137Leu) c.505-63977A>T (n.505-63977A>T) | |
| 10 | g.74525306T>A | CA377397920 | ADK | c.606T>A (p.His202Gln) c.555T>A (p.His185Gln) c.330T>A (p.His110Gln) c.556-63976T>A (n.556-63976T>A) c.346T>A c.*351T>A (n.*351T>A) c.501T>A (p.His167Gln) n.259+2460A>T c.522T>A (p.His174Gln) c.411T>A (p.His137Gln) c.505-63976T>A (n.505-63976T>A) | gnomAD v4 |
| 10 | g.74525306T>C | CA470254799 | ADK | c.606T>C (p.His202=) c.555T>C (p.His185=) c.330T>C (p.His110=) c.556-63976T>C (n.556-63976T>C) c.346T>C c.*351T>C (n.*351T>C) c.501T>C (p.His167=) n.259+2460A>G c.522T>C (p.His174=) c.411T>C (p.His137=) c.505-63976T>C (n.505-63976T>C) | |
| 10 | g.74525306T>G | CA5564004 | ADK | c.606T>G (p.His202Gln) c.555T>G (p.His185Gln) c.330T>G (p.His110Gln) c.556-63976T>G (n.556-63976T>G) c.346T>G c.*351T>G (n.*351T>G) c.501T>G (p.His167Gln) n.259+2460A>C c.522T>G (p.His174Gln) c.411T>G (p.His137Gln) c.505-63976T>G (n.505-63976T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74525306T= | CA1920088371 | ADK | c.606T= (p.His202=) c.555T= (p.His185=) c.330T= (p.His110=) c.556-63976T= (n.556-63976T=) c.346T= c.*351T= (n.*351T=) c.501T= (p.His167=) n.259+2460A= c.522T= (p.His174=) c.411T= (p.His137=) c.505-63976T= (n.505-63976T=) | |
| 10 | g.74525307G>A | CA377397921 | ADK | c.607G>A (p.Ala203Thr) c.556G>A (p.Ala186Thr) c.331G>A (p.Ala111Thr) c.556-63975G>A (n.556-63975G>A) c.347G>A c.*352G>A (n.*352G>A) c.502G>A (p.Ala168Thr) n.259+2459C>T c.523G>A (p.Ala175Thr) c.412G>A (p.Ala138Thr) c.505-63975G>A (n.505-63975G>A) | |
| 10 | g.74525307G>C | CA377397922 | ADK | c.607G>C (p.Ala203Pro) c.556G>C (p.Ala186Pro) c.331G>C (p.Ala111Pro) c.556-63975G>C (n.556-63975G>C) c.347G>C c.*352G>C (n.*352G>C) c.502G>C (p.Ala168Pro) n.259+2459C>G c.523G>C (p.Ala175Pro) c.412G>C (p.Ala138Pro) c.505-63975G>C (n.505-63975G>C) | |
| 10 | g.74525307G>T | CA377397923 | ADK | c.607G>T (p.Ala203Ser) c.556G>T (p.Ala186Ser) c.331G>T (p.Ala111Ser) c.556-63975G>T (n.556-63975G>T) c.347G>T c.*352G>T (n.*352G>T) c.502G>T (p.Ala168Ser) n.259+2459C>A c.523G>T (p.Ala175Ser) c.412G>T (p.Ala138Ser) c.505-63975G>T (n.505-63975G>T) | |
| 10 | g.74525308C>A | CA377397924 | ADK | c.608C>A (p.Ala203Asp) c.557C>A (p.Ala186Asp) c.332C>A (p.Ala111Asp) c.556-63974C>A (n.556-63974C>A) c.348C>A c.*353C>A (n.*353C>A) c.503C>A (p.Ala168Asp) n.259+2458G>T c.524C>A (p.Ala175Asp) c.413C>A (p.Ala138Asp) c.505-63974C>A (n.505-63974C>A) | gnomAD v4 |
| 10 | g.74525308C>G | CA377397925 | ADK | c.608C>G (p.Ala203Gly) c.557C>G (p.Ala186Gly) c.332C>G (p.Ala111Gly) c.556-63974C>G (n.556-63974C>G) c.348C>G c.*353C>G (n.*353C>G) c.503C>G (p.Ala168Gly) n.259+2458G>C c.524C>G (p.Ala175Gly) c.413C>G (p.Ala138Gly) c.505-63974C>G (n.505-63974C>G) | |
| 10 | g.74525308C>T | CA377397926 | ADK | c.608C>T (p.Ala203Val) c.557C>T (p.Ala186Val) c.332C>T (p.Ala111Val) c.556-63974C>T (n.556-63974C>T) c.348C>T c.*353C>T (n.*353C>T) c.503C>T (p.Ala168Val) n.259+2458G>A c.524C>T (p.Ala175Val) c.413C>T (p.Ala138Val) c.505-63974C>T (n.505-63974C>T) | |
| 10 | g.74525309T>A | CA470254801 | ADK | c.609T>A (p.Ala203=) c.558T>A (p.Ala186=) c.333T>A (p.Ala111=) c.556-63973T>A (n.556-63973T>A) c.349T>A c.*354T>A (n.*354T>A) c.504T>A (p.Ala168=) n.259+2457A>T c.525T>A (p.Ala175=) c.414T>A (p.Ala138=) c.505-63973T>A (n.505-63973T>A) | |
| 10 | g.74525309T>C | CA470254802 | ADK | c.609T>C (p.Ala203=) c.558T>C (p.Ala186=) c.333T>C (p.Ala111=) c.556-63973T>C (n.556-63973T>C) c.349T>C c.*354T>C (n.*354T>C) c.504T>C (p.Ala168=) n.259+2457A>G c.525T>C (p.Ala175=) c.414T>C (p.Ala138=) c.505-63973T>C (n.505-63973T>C) | gnomAD v4 |
| 10 | g.74525309T>G | CA470254803 | ADK | c.609T>G (p.Ala203=) c.558T>G (p.Ala186=) c.333T>G (p.Ala111=) c.556-63973T>G (n.556-63973T>G) c.349T>G c.*354T>G (n.*354T>G) c.504T>G (p.Ala168=) n.259+2457A>C c.525T>G (p.Ala175=) c.414T>G (p.Ala138=) c.505-63973T>G (n.505-63973T>G) | |
| 10 | g.74525310T>A | CA377397927 | ADK | c.610T>A (p.Ser204Thr) c.559T>A (p.Ser187Thr) c.334T>A (p.Ser112Thr) c.556-63972T>A (n.556-63972T>A) c.350T>A c.*355T>A (n.*355T>A) c.505T>A (p.Ser169Thr) n.259+2456A>T c.526T>A (p.Ser176Thr) c.415T>A (p.Ser139Thr) c.505-63972T>A (n.505-63972T>A) | |
| 10 | g.74525310T>C | CA377397928 | ADK | c.610T>C (p.Ser204Pro) c.559T>C (p.Ser187Pro) c.334T>C (p.Ser112Pro) c.556-63972T>C (n.556-63972T>C) c.350T>C c.*355T>C (n.*355T>C) c.505T>C (p.Ser169Pro) n.259+2456A>G c.526T>C (p.Ser176Pro) c.415T>C (p.Ser139Pro) c.505-63972T>C (n.505-63972T>C) | |
| 10 | g.74525310T>G | CA377397929 | ADK | c.610T>G (p.Ser204Ala) c.559T>G (p.Ser187Ala) c.334T>G (p.Ser112Ala) c.556-63972T>G (n.556-63972T>G) c.350T>G c.*355T>G (n.*355T>G) c.505T>G (p.Ser169Ala) n.259+2456A>C c.526T>G (p.Ser176Ala) c.415T>G (p.Ser139Ala) c.505-63972T>G (n.505-63972T>G) | |
| 10 | g.74525311C>A | CA377397932 | ADK | c.611C>A (p.Ser204Tyr) c.560C>A (p.Ser187Tyr) c.335C>A (p.Ser112Tyr) c.556-63971C>A (n.556-63971C>A) c.351C>A c.*356C>A (n.*356C>A) c.506C>A (p.Ser169Tyr) n.259+2455G>T c.527C>A (p.Ser176Tyr) c.416C>A (p.Ser139Tyr) c.505-63971C>A (n.505-63971C>A) | gnomAD v4 |
| 10 | g.74525311C>G | CA377397931 | ADK | c.611C>G (p.Ser204Cys) c.560C>G (p.Ser187Cys) c.335C>G (p.Ser112Cys) c.556-63971C>G (n.556-63971C>G) c.351C>G c.*356C>G (n.*356C>G) c.506C>G (p.Ser169Cys) n.259+2455G>C c.527C>G (p.Ser176Cys) c.416C>G (p.Ser139Cys) c.505-63971C>G (n.505-63971C>G) | |
| 10 | g.74525311C>T | CA377397930 | ADK | c.611C>T (p.Ser204Phe) c.560C>T (p.Ser187Phe) c.335C>T (p.Ser112Phe) c.556-63971C>T (n.556-63971C>T) c.351C>T c.*356C>T (n.*356C>T) c.506C>T (p.Ser169Phe) n.259+2455G>A c.527C>T (p.Ser176Phe) c.416C>T (p.Ser139Phe) c.505-63971C>T (n.505-63971C>T) | |
| 10 | g.74525312T>A | CA470254805 | ADK | c.612T>A (p.Ser204=) c.561T>A (p.Ser187=) c.336T>A (p.Ser112=) c.556-63970T>A (n.556-63970T>A) c.352T>A c.*357T>A (n.*357T>A) c.507T>A (p.Ser169=) n.259+2454A>T c.528T>A (p.Ser176=) c.417T>A (p.Ser139=) c.505-63970T>A (n.505-63970T>A) | dbSNP |
| 10 | g.74525312T>C | CA470254807 | ADK | c.612T>C (p.Ser204=) c.561T>C (p.Ser187=) c.336T>C (p.Ser112=) c.556-63970T>C (n.556-63970T>C) c.352T>C c.*357T>C (n.*357T>C) c.507T>C (p.Ser169=) n.259+2454A>G c.528T>C (p.Ser176=) c.417T>C (p.Ser139=) c.505-63970T>C (n.505-63970T>C) | |
| 10 | g.74525312T>G | CA470254806 | ADK | c.612T>G (p.Ser204=) c.561T>G (p.Ser187=) c.336T>G (p.Ser112=) c.556-63970T>G (n.556-63970T>G) c.352T>G c.*357T>G (n.*357T>G) c.507T>G (p.Ser169=) n.259+2454A>C c.528T>G (p.Ser176=) c.417T>G (p.Ser139=) c.505-63970T>G (n.505-63970T>G) | |
| 10 | g.74525312T= | CA1920088374 | ADK | c.612T= (p.Ser204=) c.561T= (p.Ser187=) c.336T= (p.Ser112=) c.556-63970T= (n.556-63970T=) c.352T= c.*357T= (n.*357T=) c.507T= (p.Ser169=) n.259+2454A= c.528T= (p.Ser176=) c.417T= (p.Ser139=) c.505-63970T= (n.505-63970T=) | |
| 10 | g.74525313G>A | CA377397933 | ADK | c.613G>A (p.Glu205Lys) c.562G>A (p.Glu188Lys) c.337G>A (p.Glu113Lys) c.556-63969G>A (n.556-63969G>A) c.353G>A c.*358G>A (n.*358G>A) c.508G>A (p.Glu170Lys) n.259+2453C>T c.529G>A (p.Glu177Lys) c.418G>A (p.Glu140Lys) c.505-63969G>A (n.505-63969G>A) | COSMIC |
| 10 | g.74525313G>C | CA377397934 | ADK | c.613G>C (p.Glu205Gln) c.562G>C (p.Glu188Gln) c.337G>C (p.Glu113Gln) c.556-63969G>C (n.556-63969G>C) c.353G>C c.*358G>C (n.*358G>C) c.508G>C (p.Glu170Gln) n.259+2453C>G c.529G>C (p.Glu177Gln) c.418G>C (p.Glu140Gln) c.505-63969G>C (n.505-63969G>C) | |
| 10 | g.74525313G>T | CA377397935 | ADK | c.613G>T (p.Glu205Ter) c.562G>T (p.Glu188Ter) c.337G>T (p.Glu113Ter) c.556-63969G>T (n.556-63969G>T) c.353G>T c.*358G>T (n.*358G>T) c.508G>T (p.Glu170Ter) n.259+2453C>A c.529G>T (p.Glu177Ter) c.418G>T (p.Glu140Ter) c.505-63969G>T (n.505-63969G>T) | |
| 10 | g.74525314A>C | CA377397936 | ADK | c.614A>C (p.Glu205Ala) c.563A>C (p.Glu188Ala) c.338A>C (p.Glu113Ala) c.556-63968A>C (n.556-63968A>C) c.354A>C c.*359A>C (n.*359A>C) c.509A>C (p.Glu170Ala) n.259+2452T>G c.530A>C (p.Glu177Ala) c.419A>C (p.Glu140Ala) c.505-63968A>C (n.505-63968A>C) | |
| 10 | g.74525314A>G | CA377397937 | ADK | c.614A>G (p.Glu205Gly) c.563A>G (p.Glu188Gly) c.338A>G (p.Glu113Gly) c.556-63968A>G (n.556-63968A>G) c.354A>G c.*359A>G (n.*359A>G) c.509A>G (p.Glu170Gly) n.259+2452T>C c.530A>G (p.Glu177Gly) c.419A>G (p.Glu140Gly) c.505-63968A>G (n.505-63968A>G) | |
| 10 | g.74525314A>T | CA377397938 | ADK | c.614A>T (p.Glu205Val) c.563A>T (p.Glu188Val) c.338A>T (p.Glu113Val) c.556-63968A>T (n.556-63968A>T) c.354A>T c.*359A>T (n.*359A>T) c.509A>T (p.Glu170Val) n.259+2452T>A c.530A>T (p.Glu177Val) c.419A>T (p.Glu140Val) c.505-63968A>T (n.505-63968A>T) | |
| 10 | g.74525315A>C | CA377397939 | ADK | c.615A>C (p.Glu205Asp) c.564A>C (p.Glu188Asp) c.339A>C (p.Glu113Asp) c.556-63967A>C (n.556-63967A>C) c.355A>C c.*360A>C (n.*360A>C) c.510A>C (p.Glu170Asp) n.259+2451T>G c.531A>C (p.Glu177Asp) c.420A>C (p.Glu140Asp) c.505-63967A>C (n.505-63967A>C) | |
| 10 | g.74525315A>G | CA470254808 | ADK | c.615A>G (p.Glu205=) c.564A>G (p.Glu188=) c.339A>G (p.Glu113=) c.556-63967A>G (n.556-63967A>G) c.355A>G c.*360A>G (n.*360A>G) c.510A>G (p.Glu170=) n.259+2451T>C c.531A>G (p.Glu177=) c.420A>G (p.Glu140=) c.505-63967A>G (n.505-63967A>G) | |
| 10 | g.74525315A>T | CA377397940 | ADK | c.615A>T (p.Glu205Asp) c.564A>T (p.Glu188Asp) c.339A>T (p.Glu113Asp) c.556-63967A>T (n.556-63967A>T) c.355A>T c.*360A>T (n.*360A>T) c.510A>T (p.Glu170Asp) n.259+2451T>A c.531A>T (p.Glu177Asp) c.420A>T (p.Glu140Asp) c.505-63967A>T (n.505-63967A>T) | |
| 10 | g.74525316A>C | CA377397941 | ADK | c.616A>C (p.Asn206His) c.565A>C (p.Asn189His) c.340A>C (p.Asn114His) c.556-63966A>C (n.556-63966A>C) c.356A>C c.*361A>C (n.*361A>C) c.511A>C (p.Asn171His) n.259+2450T>G c.532A>C (p.Asn178His) c.421A>C (p.Asn141His) c.505-63966A>C (n.505-63966A>C) | |
| 10 | g.74525316A>G | CA377397942 | ADK | c.616A>G (p.Asn206Asp) c.565A>G (p.Asn189Asp) c.340A>G (p.Asn114Asp) c.556-63966A>G (n.556-63966A>G) c.356A>G c.*361A>G (n.*361A>G) c.511A>G (p.Asn171Asp) n.259+2450T>C c.532A>G (p.Asn178Asp) c.421A>G (p.Asn141Asp) c.505-63966A>G (n.505-63966A>G) | |
| 10 | g.74525316A>T | CA377397943 | ADK | c.616A>T (p.Asn206Tyr) c.565A>T (p.Asn189Tyr) c.340A>T (p.Asn114Tyr) c.556-63966A>T (n.556-63966A>T) c.356A>T c.*361A>T (n.*361A>T) c.511A>T (p.Asn171Tyr) n.259+2450T>A c.532A>T (p.Asn178Tyr) c.421A>T (p.Asn141Tyr) c.505-63966A>T (n.505-63966A>T) | |
| 10 | g.74525317A>C | CA377397946 | ADK | c.617A>C (p.Asn206Thr) c.566A>C (p.Asn189Thr) c.341A>C (p.Asn114Thr) c.556-63965A>C (n.556-63965A>C) c.357A>C c.*362A>C (n.*362A>C) c.512A>C (p.Asn171Thr) n.259+2449T>G c.533A>C (p.Asn178Thr) c.422A>C (p.Asn141Thr) c.505-63965A>C (n.505-63965A>C) | |
| 10 | g.74525317A>G | CA377397945 | ADK | c.617A>G (p.Asn206Ser) c.566A>G (p.Asn189Ser) c.341A>G (p.Asn114Ser) c.556-63965A>G (n.556-63965A>G) c.357A>G c.*362A>G (n.*362A>G) c.512A>G (p.Asn171Ser) n.259+2449T>C c.533A>G (p.Asn178Ser) c.422A>G (p.Asn141Ser) c.505-63965A>G (n.505-63965A>G) | |
| 10 | g.74525317A>T | CA377397944 | ADK | c.617A>T (p.Asn206Ile) c.566A>T (p.Asn189Ile) c.341A>T (p.Asn114Ile) c.556-63965A>T (n.556-63965A>T) c.357A>T c.*362A>T (n.*362A>T) c.512A>T (p.Asn171Ile) n.259+2449T>A c.533A>T (p.Asn178Ile) c.422A>T (p.Asn141Ile) c.505-63965A>T (n.505-63965A>T) |