Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240874541_240875273delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC | CA1339333857 | AGXT | c.680+479_776+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC n.333-568_428+69delinsGCCTGGCAACTGGAGGTGCCGTTCCCCAGAACAGAGAGGACTTCGGGGAGAAGTCAGGAATTCGGTGTTGGACGTGGGAGGTCTGAGATGCCAGCTGGACCACACGGGAGGGTGAAGGAAGCGGCTGGGTGTGAGTCAGGAGCCTGGGGAGAGGCCGGGGCTGGCCCCTCCATCTGGAGTTGTAGAGACGGACACATTTAAAGTTTCAAGCCTGGCCAGTGTCCCCTGGGGCCCGAAAGCAGTCACCTTTGGGTGATGTGAGAAATGAAGGCTGACCCTGTAGGAGGGGCTGGGGGAGAGAAAGGGGCACACAGAGTGGAGGGAGCTGGCCTTGGTGCCCCCATGGCAGGGTCACACAGCTGGGCCCAAGGGCCAGCGGGACTGGACAGCTGAGGGACCCACGACCCACCCGGTCCCACTCTGGCCCCTGAGCACAAATGCAGCTGGGGCGGGCCCTCCTGGGGGCCCCACCCCGTCTCACTCCCGTGAAACAGGACAGCCAGCGAGACTGCCCTGGCCTTCAGCCCAAACTGAGAGGCTGGTGCTCAGCCTGCTTCTTTCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGATGTGAGGCCTGGCAGGGATGGGAAGGTGGAGGGCGCTGGGCATGGCTGAGAGGTGGGGCGCTGGCCTCTC | |
2 | g.240874542_240875273delinsTGAGA | CA275848 | AGXT | c.680+480_776+69delinsTGAGA n.333-567_428+69delinsTGAGA | ClinVar dbSNP |
2 | g.240875059C>A | CA1339334134 | AGXT | c.681-50C>A (n.681-50C>A) n.333-50C>A | dbSNP |
2 | g.240875059C= | CA1339334133 | AGXT | c.681-50C= (n.681-50C=) n.333-50C= | |
2 | g.240875059C>T | CA2664008756 | AGXT | c.681-50C>T (n.681-50C>T) n.333-50C>T | gnomAD v4 |
2 | g.240875060T>C | CA2664008759 | AGXT | c.681-49T>C (n.681-49T>C) n.333-49T>C | gnomAD v4 |
2 | g.240875062C>A | CA2577302668 | AGXT | c.681-47C>A (n.681-47C>A) n.333-47C>A | |
2 | g.240875062C= | CA1339334135 | AGXT | c.681-47C= (n.681-47C=) n.333-47C= | |
2 | g.240875062C>T | CA1339334136 | AGXT | c.681-47C>T (n.681-47C>T) n.333-47C>T | dbSNP |
2 | g.240875063A= | CA1339334137 | AGXT | c.681-46A= (n.681-46A=) n.333-46A= | |
2 | g.240875063A>G | CA2209198 | AGXT | c.681-46A>G (n.681-46A>G) n.333-46A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875064G>A | CA2664008763 | AGXT | c.681-45G>A (n.681-45G>A) n.333-45G>A | gnomAD v4 |
2 | g.240875065C>A | CA2577302669 | AGXT | c.681-44C>A (n.681-44C>A) n.333-44C>A | gnomAD v4 |
2 | g.240875068A= | CA1339334138 | AGXT | c.681-41A= (n.681-41A=) n.333-41A= | |
2 | g.240875068A>T | CA2209199 | AGXT | c.681-41A>T (n.681-41A>T) n.333-41A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875069A= | CA1339334139 | AGXT | c.681-40A= (n.681-40A=) n.333-40A= | |
2 | g.240875069A>T | CA1339334140 | AGXT | c.681-40A>T (n.681-40A>T) n.333-40A>T | dbSNP gnomAD v4 |
2 | g.240875070A= | CA1339334141 | AGXT | c.681-39A= (n.681-39A=) n.333-39A= | |
2 | g.240875070A>G | CA2209200 | AGXT | c.681-39A>G (n.681-39A>G) n.333-39A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875071C= | CA1339334142 | AGXT | c.681-38C= (n.681-38C=) n.333-38C= | |
2 | g.240875071C>T | CA540536863 | AGXT | c.681-38C>T (n.681-38C>T) n.333-38C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875072T>A | CA2209201 | AGXT | c.681-37T>A (n.681-37T>A) n.333-37T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875072T>G | CA2577302670 | AGXT | c.681-37T>G (n.681-37T>G) n.333-37T>G | gnomAD v4 |
2 | g.240875072T= | CA1339334143 | AGXT | c.681-37T= (n.681-37T=) n.333-37T= | |
2 | g.240875073G>C | CA1339334144 | AGXT | c.681-36G>C (n.681-36G>C) n.333-36G>C | dbSNP gnomAD v4 |
2 | g.240875073G= | CA1339334145 | AGXT | c.681-36G= (n.681-36G=) n.333-36G= | |
2 | g.240875073G>T | CA2664008814 | AGXT | c.681-36G>T (n.681-36G>T) n.333-36G>T | gnomAD v4 |
2 | g.240875075G>A | CA540536867 | AGXT | c.681-34G>A (n.681-34G>A) n.333-34G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875075G= | CA1339334146 | AGXT | c.681-34G= (n.681-34G=) n.333-34G= | |
2 | g.240875076A>G | CA2577302671 | AGXT | c.681-33A>G (n.681-33A>G) n.333-33A>G | |
2 | g.240875077G>A | CA2664008817 | AGXT | c.681-32G>A (n.681-32G>A) n.333-32G>A | gnomAD v4 |
2 | g.240875079C>T | CA2664008818 | AGXT | c.681-30C>T (n.681-30C>T) n.333-30C>T | gnomAD v4 |
2 | g.240875080T>C | CA2664008819 | AGXT | c.681-29T>C (n.681-29T>C) n.333-29T>C | gnomAD v4 |
2 | g.240875082G>A | CA68179674 | AGXT | c.681-27G>A (n.681-27G>A) n.333-27G>A | dbSNP |
2 | g.240875082G>C | CA2664008821 | AGXT | c.681-27G>C (n.681-27G>C) n.333-27G>C | gnomAD v4 |
2 | g.240875082G= | CA1339334147 | AGXT | c.681-27G= (n.681-27G=) n.333-27G= | |
2 | g.240875083T>C | CA2664008827 | AGXT | c.681-26T>C (n.681-26T>C) n.333-26T>C | gnomAD v4 |
2 | g.240875083T>G | CA2209202 | AGXT | c.681-26T>G (n.681-26T>G) n.333-26T>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.240875083T= | CA1339334148 | AGXT | c.681-26T= (n.681-26T=) n.333-26T= | |
2 | g.240875085C= | CA1339334149 | AGXT | c.681-24C= (n.681-24C=) n.333-24C= | |
2 | g.240875085C>G | CA2209203 | AGXT | c.681-24C>G (n.681-24C>G) n.333-24C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875085C>T | CA68179679 | AGXT | c.681-24C>T (n.681-24C>T) n.333-24C>T | dbSNP gnomAD v4 |
2 | g.240875087C>A | CA2577302672 | AGXT | c.681-22C>A (n.681-22C>A) n.333-22C>A | gnomAD v4 |
2 | g.240875089G>A | CA2697550617 | AGXT | c.681-20G>A (n.681-20G>A) n.333-20G>A | ClinVar |
2 | g.240875089G>C | CA2739279215 | AGXT | c.681-20G>C (n.681-20G>C) n.333-20G>C | ClinVar |
2 | g.240875090C>A | CA2664008838 | AGXT | c.681-19C>A (n.681-19C>A) n.333-19C>A | gnomAD v4 |
2 | g.240875091C= | CA1339334150 | AGXT | c.681-18C= (n.681-18C=) n.333-18C= | |
2 | g.240875091C>G | CA68179682 | AGXT | c.681-18C>G (n.681-18C>G) n.333-18C>G | dbSNP gnomAD v4 |
2 | g.240875091C>T | CA1339334151 | AGXT | c.681-18C>T (n.681-18C>T) n.333-18C>T | ClinVar dbSNP |
2 | g.240875092T>A | CA2577302673 | AGXT | c.681-17T>A (n.681-17T>A) n.333-17T>A |