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.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 | |
2 | g.240875092T>C | CA2664008841 | AGXT | c.681-17T>C (n.681-17T>C) n.333-17T>C | gnomAD v4 |
2 | g.240875093G>A | CA2209204 | AGXT | c.681-16G>A (n.681-16G>A) n.333-16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875093G>C | CA2664008845 | AGXT | c.681-16G>C (n.681-16G>C) n.333-16G>C | gnomAD v4 |
2 | g.240875093G= | CA1339334152 | AGXT | c.681-16G= (n.681-16G=) n.333-16G= | |
2 | g.240875094C>A | CA2664008848 | AGXT | c.681-15C>A (n.681-15C>A) n.333-15C>A | gnomAD v4 |
2 | g.240875094C= | CA1339334153 | AGXT | c.681-15C= (n.681-15C=) n.333-15C= | |
2 | g.240875094C>T | CA1339334154 | AGXT | c.681-15C>T (n.681-15C>T) n.333-15C>T | dbSNP |
2 | g.240875095T>C | CA2664008850 | AGXT | c.681-14T>C (n.681-14T>C) n.333-14T>C | gnomAD v4 |
2 | g.240875096T>C | CA2664008852 | AGXT | c.681-13T>C (n.681-13T>C) n.333-13T>C | ClinVar gnomAD v4 |
2 | g.240875096T>G | CA540536868 | AGXT | c.681-13T>G (n.681-13T>G) n.333-13T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875096T= | CA1339334155 | AGXT | c.681-13T= (n.681-13T=) n.333-13T= | |
2 | g.240875097C>A | CA540536869 | AGXT | c.681-12C>A (n.681-12C>A) n.333-12C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875097C= | CA1339334156 | AGXT | c.681-12C= (n.681-12C=) n.333-12C= | |
2 | g.240875098T>C | CA2664008862 | AGXT | c.681-11T>C (n.681-11T>C) n.333-11T>C | gnomAD v4 |
2 | g.240875100del | CA2664008859 | AGXT | c.681-9del (n.681-9del) n.333-9del | gnomAD v4 |
2 | g.240875099T>A | CA2664008863 | AGXT | c.681-10T>A (n.681-10T>A) n.333-10T>A | gnomAD v4 |
2 | g.240875100T= | CA1339334157 | AGXT | c.681-9T= (n.681-9T=) n.333-9T= | |
2 | g.240875101C>T | CA2573135691 | AGXT | c.681-8C>T (n.681-8C>T) n.333-8C>T | ClinVar dbSNP |
2 | g.240875101_240875148dup | CA540536870 | AGXT | c.681-8_720dup n.333-8_372dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875102_240875103delinsTC | CA1339334158 | AGXT | c.681-7_681-6delinsTC (n.681-7_681-6delinsTC) n.333-7_333-6delinsTC | |
2 | g.240875103C>T | CA2664008879 | AGXT | c.681-6C>T (n.681-6C>T) n.333-6C>T | gnomAD v4 |
2 | g.240875106del | CA1339334159 | AGXT | c.681-3del (n.681-3del) n.333-3del | dbSNP gnomAD v4 |
2 | g.240875105C>A | CA2577302674 | AGXT | c.681-4C>A (n.681-4C>A) n.333-4C>A | gnomAD v4 |
2 | g.240875105C= | CA1339334160 | AGXT | c.681-4C= (n.681-4C=) n.333-4C= | |
2 | g.240875105C>G | CA1339334161 | AGXT | c.681-4C>G (n.681-4C>G) n.333-4C>G | dbSNP |
2 | g.240875105C>T | CA540536874 | AGXT | c.681-4C>T (n.681-4C>T) n.333-4C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875106C>A | CA2664008894 | AGXT | c.681-3C>A (n.681-3C>A) n.333-3C>A | gnomAD v4 |
2 | g.240875106C= | CA1339334162 | AGXT | c.681-3C= (n.681-3C=) n.333-3C= | |
2 | g.240875106C>G | CA2209205 | AGXT | c.681-3C>G (n.681-3C>G) n.333-3C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875107A>C | CA351317846 | AGXT | c.681-2A>C (n.681-2A>C) n.333-2A>C | gnomAD v4 |
2 | g.240875107A>G | CA351317849 | AGXT | c.681-2A>G (n.681-2A>G) n.333-2A>G | |
2 | g.240875107A>T | CA351317852 | AGXT | c.681-2A>T (n.681-2A>T) n.333-2A>T | |
2 | g.240875108G>A | CA2209207 | AGXT | c.681-1G>A (n.681-1G>A) n.333-1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875108G>C | CA68179687 | AGXT | c.681-1G>C (n.681-1G>C) n.333-1G>C | dbSNP |