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.240875054del | CA2664008744 | AGXT | c.681-55del (n.681-55del) n.333-55del | gnomAD v4 |
2 | g.240875054C>T | CA2577302666 | AGXT | c.681-55C>T (n.681-55C>T) n.333-55C>T | |
2 | g.240875055_240875058dup | CA2572990170 | AGXT | c.681-54_681-51dup (n.681-54_681-51dup) n.333-54_333-51dup | |
2 | g.240875055T>C | CA2577302667 | AGXT | c.681-54T>C (n.681-54T>C) n.333-54T>C | gnomAD v4 |
2 | g.240875058C>A | CA2664008752 | AGXT | c.681-51C>A (n.681-51C>A) n.333-51C>A | gnomAD v4 |
2 | g.240875058C= | CA1339334132 | AGXT | c.681-51C= (n.681-51C=) n.333-51C= | |
2 | g.240875058C>G | CA2519856819 | AGXT | c.681-51C>G (n.681-51C>G) n.333-51C>G | |
2 | g.240875058C>T | CA2209197 | AGXT | c.681-51C>T (n.681-51C>T) n.333-51C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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>G | CA2754892322 | AGXT | c.681-38C>G (n.681-38C>G) n.333-38C>G | |
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 | |
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 |
2 | g.240875108G= | CA1339334163 | AGXT | c.681-1G= (n.681-1G=) n.333-1G= | |
2 | g.240875108G>T | CA2209206 | AGXT | c.681-1G>T (n.681-1G>T) n.333-1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875109A>C | CA351317862 | AGXT | c.681A>C (p.Lys227Asn) n.333A>C | |
2 | g.240875109A>G | CA432024361 | AGXT | c.681A>G (p.Lys227=) n.333A>G | |
2 | g.240875109A>T | CA351317858 | AGXT | c.681A>T (p.Lys227Asn) n.333A>T | |
2 | g.240875111dup | CA913090178 | AGXT | c.683dup (p.Lys229GlufsTer26) n.335dup | |
2 | g.240875110_240875111del | CA2695197715 | AGXT | c.682_683del (p.Lys228GlufsTer26) n.334_335del | ClinVar |
2 | g.240875109_240875112delinsAAAG | CA1339334164 | AGXT | c.681_684delinsAAAG (p.Lys227=) n.333_336delinsAAAG | |
2 | g.240875110A>C | CA351317864 | AGXT | c.682A>C (p.Lys228Gln) n.334A>C | COSMIC |
2 | g.240875110A>G | CA351317865 | AGXT | c.682A>G (p.Lys228Glu) n.334A>G | |
2 | g.240875110A>T | CA351317866 | AGXT | c.682A>T (p.Lys228Ter) n.334A>T | COSMIC |
2 | g.240875114_240875116dup | CA658821246 | AGXT | c.686_688dup (p.Lys229_Met230insLys) n.338_340dup | ClinVar dbSNP |
2 | g.240875114_240875116del | CA915941796 | AGXT | c.686_688del (p.Lys229del) n.338_340del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875111A= | CA1339334165 | AGXT | c.683A= (p.Lys228=) n.335A= | |
2 | g.240875111A>C | CA351317867 | AGXT | c.683A>C (p.Lys228Thr) n.335A>C | |
2 | g.240875111A>G | CA351317868 | AGXT | c.683A>G (p.Lys228Arg) n.335A>G | dbSNP |
2 | g.240875111A>T | CA2209208 | AGXT | c.683A>T (p.Lys228Met) n.335A>T | dbSNP ExAC gnomAD v4 |
2 | g.240875112G>A | CA432024365 | AGXT | c.684G>A (p.Lys228=) n.336G>A | |
2 | g.240875112G>C | CA351317869 | AGXT | c.684G>C (p.Lys228Asn) n.336G>C | |
2 | g.240875112G>T | CA351317871 | AGXT | c.684G>T (p.Lys228Asn) n.336G>T | |
2 | g.240875113A>C | CA351317872 | AGXT | c.685A>C (p.Lys229Gln) n.337A>C | |
2 | g.240875113A>G | CA351317874 | AGXT | c.685A>G (p.Lys229Glu) n.337A>G | gnomAD v4 |
2 | g.240875113A>T | CA351317877 | AGXT | c.685A>T (p.Lys229Ter) n.337A>T | |
2 | g.240875114A>C | CA351317879 | AGXT | c.686A>C (p.Lys229Thr) n.338A>C | |
2 | g.240875114A>G | CA351317882 | AGXT | c.686A>G (p.Lys229Arg) n.338A>G | |
2 | g.240875114A>T | CA351317884 | AGXT | c.686A>T (p.Lys229Met) n.338A>T | |
2 | g.240875115G>A | CA432024367 | AGXT | c.687G>A (p.Lys229=) n.339G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875115G>C | CA351317887 | AGXT | c.687G>C (p.Lys229Asn) n.339G>C | |
2 | g.240875115G= | CA1339334166 | AGXT | c.687G= (p.Lys229=) n.339G= | |
2 | g.240875115G>T | CA2209209 | AGXT | c.687G>T (p.Lys229Asn) n.339G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875117_240875134del | CA2577302675 | AGXT | c.689_706del (p.Met230_Thr235del) n.341_358del | |
2 | g.240875116A= | CA1339334167 | AGXT | c.688A= (p.Met230=) n.340A= | |
2 | g.240875116A>C | CA351317897 | AGXT | c.688A>C (p.Met230Leu) n.340A>C | |
2 | g.240875116A>G | CA351317904 | AGXT | c.688A>G (p.Met230Val) n.340A>G | dbSNP gnomAD v4 |
2 | g.240875116A>T | CA351317901 | AGXT | c.688A>T (p.Met230Leu) n.340A>T | |
2 | g.240875117T>A | CA351317907 | AGXT | c.689T>A (p.Met230Lys) n.341T>A | |
2 | g.240875117T>C | CA2209210 | AGXT | c.689T>C (p.Met230Thr) n.341T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875117T>G | CA351317911 | AGXT | c.689T>G (p.Met230Arg) n.341T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875117T= | CA1339334168 | AGXT | c.689T= (p.Met230=) n.341T= | |
2 | g.240875118G>A | CA351317917 | AGXT | c.690G>A (p.Met230Ile) n.342G>A | gnomAD v4 |
2 | g.240875118G>C | CA351317920 | AGXT | c.690G>C (p.Met230Ile) n.342G>C | |
2 | g.240875118G>T | CA351317924 | AGXT | c.690G>T (p.Met230Ile) n.342G>T | |
2 | g.240875119T>A | CA351317926 | AGXT | c.691T>A (p.Tyr231Asn) n.343T>A | |
2 | g.240875119T>C | CA351317930 | AGXT | c.691T>C (p.Tyr231His) n.343T>C | |
2 | g.240875119T>G | CA351317931 | AGXT | c.691T>G (p.Tyr231Asp) n.343T>G | |
2 | g.240875120A>C | CA351317932 | AGXT | c.692A>C (p.Tyr231Ser) n.344A>C | |
2 | g.240875120A>G | CA351317933 | AGXT | c.692A>G (p.Tyr231Cys) n.344A>G | |
2 | g.240875120A>T | CA351317935 | AGXT | c.692A>T (p.Tyr231Phe) n.344A>T | |
2 | g.240875121C>A | CA351317946 | AGXT | c.693C>A (p.Tyr231Ter) n.345C>A | |
2 | g.240875121C= | CA1339334169 | AGXT | c.693C= (p.Tyr231=) n.345C= | |
2 | g.240875121C>G | CA351317951 | AGXT | c.693C>G (p.Tyr231Ter) n.345C>G | ClinVar |
2 | g.240875121C>T | CA432024372 | AGXT | c.693C>T (p.Tyr231=) n.345C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875122T>A | CA351317958 | AGXT | c.694T>A (p.Ser232Thr) n.346T>A | |
2 | g.240875122T>C | CA351317960 | AGXT | c.694T>C (p.Ser232Pro) n.346T>C | dbSNP gnomAD v4 |
2 | g.240875122T>G | CA351317962 | AGXT | c.694T>G (p.Ser232Ala) n.346T>G | gnomAD v4 |
2 | g.240875122T= | CA1339334170 | AGXT | c.694T= (p.Ser232=) n.346T= | |
2 | g.240875123C>A | CA351317976 | AGXT | c.695C>A (p.Ser232Tyr) n.347C>A | |
2 | g.240875123C= | CA1339334171 | AGXT | c.695C= (p.Ser232=) n.347C= | |
2 | g.240875123C>G | CA351317978 | AGXT | c.695C>G (p.Ser232Cys) n.347C>G | dbSNP |
2 | g.240875123C>T | CA351317981 | AGXT | c.695C>T (p.Ser232Phe) n.347C>T | |
2 | g.240875124C>A | CA432024374 | AGXT | c.696C>A (p.Ser232=) n.348C>A | |
2 | g.240875124C>G | CA432024375 | AGXT | c.696C>G (p.Ser232=) n.348C>G | ClinVar |
2 | g.240875124C>T | CA432024376 | AGXT | c.696C>T (p.Ser232=) n.348C>T | |
2 | g.240875125C>A | CA351317985 | AGXT | c.697C>A (p.Arg233Ser) n.349C>A | gnomAD v4 |
2 | g.240875125C= | CA1339334172 | AGXT | c.697C= (p.Arg233=) n.349C= | |
2 | g.240875125C>G | CA351317989 | AGXT | c.697C>G (p.Arg233Gly) n.349C>G | |
2 | g.240875125C>T | CA340446 | AGXT | c.697C>T (p.Arg233Cys) n.349C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875126G>A | CA253545 | AGXT | c.698G>A (p.Arg233His) n.350G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875126G>C | CA2209211 | AGXT | c.698G>C (p.Arg233Pro) n.350G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875126G= | CA1339334173 | AGXT | c.698G= (p.Arg233=) n.350G= | |
2 | g.240875126G>T | CA275732 | AGXT | c.698G>T (p.Arg233Leu) n.350G>T | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.240875127C>A | CA432024377 | AGXT | c.699C>A (p.Arg233=) n.351C>A | |
2 | g.240875127C= | CA1339334174 | AGXT | c.699C= (p.Arg233=) n.351C= | |
2 | g.240875127C>G | CA432024378 | AGXT | c.699C>G (p.Arg233=) n.351C>G | |
2 | g.240875127C>T | CA432024379 | AGXT | c.699C>T (p.Arg233=) n.351C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875128A>C | CA351318002 | AGXT | c.700A>C (p.Lys234Gln) n.352A>C | |
2 | g.240875128A>G | CA351318007 | AGXT | c.700A>G (p.Lys234Glu) n.352A>G | |
2 | g.240875128A>T | CA351318005 | AGXT | c.700A>T (p.Lys234Ter) n.352A>T | |
2 | g.240875129A= | CA1339334175 | AGXT | c.701A= (p.Lys234=) n.353A= | |
2 | g.240875129A>C | CA351318009 | AGXT | c.701A>C (p.Lys234Thr) n.353A>C | dbSNP gnomAD v4 |
2 | g.240875129A>G | CA2209212 | AGXT | c.701A>G (p.Lys234Arg) n.353A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875129A>T | CA351318012 | AGXT | c.701A>T (p.Lys234Met) n.353A>T | |
2 | g.240875130G>A | CA432024381 | AGXT | c.702G>A (p.Lys234=) n.354G>A | ClinVar gnomAD v4 COSMIC |
2 | g.240875130G>C | CA351318017 | AGXT | c.702G>C (p.Lys234Asn) n.354G>C | |
2 | g.240875130G= | CA1339334176 | AGXT | c.702G= (p.Lys234=) n.354G= | |
2 | g.240875130G>T | CA351318020 | AGXT | c.702G>T (p.Lys234Asn) n.354G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875131A>C | CA351318023 | AGXT | c.703A>C (p.Thr235Pro) n.355A>C | |
2 | g.240875131A>G | CA351318025 | AGXT | c.703A>G (p.Thr235Ala) n.355A>G | |
2 | g.240875131A>T | CA351318027 | AGXT | c.703A>T (p.Thr235Ser) n.355A>T | gnomAD v4 |
2 | g.240875132C>A | CA351318029 | AGXT | c.704C>A (p.Thr235Lys) n.356C>A | |
2 | g.240875132C= | CA1339334177 | AGXT | c.704C= (p.Thr235=) n.356C= | |
2 | g.240875132C>G | CA351318031 | AGXT | c.704C>G (p.Thr235Arg) n.356C>G | |
2 | g.240875132C>T | CA2209213 | AGXT | c.704C>T (p.Thr235Met) n.356C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875133G>A | CA275585 | AGXT | c.705G>A (p.Thr235=) n.357G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875133G>C | CA432024384 | AGXT | c.705G>C (p.Thr235=) n.357G>C | |
2 | g.240875133G= | CA1339334178 | AGXT | c.705G= (p.Thr235=) n.357G= | |
2 | g.240875133G>T | CA432024385 | AGXT | c.705G>T (p.Thr235=) n.357G>T | gnomAD v4 |
2 | g.240875134A>C | CA351318037 | AGXT | c.706A>C (p.Lys236Gln) n.358A>C | |
2 | g.240875134A>G | CA351318038 | AGXT | c.706A>G (p.Lys236Glu) n.358A>G | |
2 | g.240875134A>T | CA351318041 | AGXT | c.706A>T (p.Lys236Ter) n.358A>T | ClinVar |
2 | g.240875135A>C | CA351318043 | AGXT | c.707A>C (p.Lys236Thr) n.359A>C | |
2 | g.240875135A>G | CA351318047 | AGXT | c.707A>G (p.Lys236Arg) n.359A>G | |
2 | g.240875135A>T | CA351318046 | AGXT | c.707A>T (p.Lys236Met) n.359A>T | |
2 | g.240875136G>A | CA432024386 | AGXT | c.708G>A (p.Lys236=) n.360G>A | gnomAD v4 |
2 | g.240875136G>C | CA351318049 | AGXT | c.708G>C (p.Lys236Asn) n.360G>C | |
2 | g.240875136G>T | CA351318050 | AGXT | c.708G>T (p.Lys236Asn) n.360G>T | |
2 | g.240875137C>A | CA351318053 | AGXT | c.709C>A (p.Pro237Thr) n.361C>A | |
2 | g.240875137C= | CA1339334179 | AGXT | c.709C= (p.Pro237=) n.361C= | |
2 | g.240875137C>G | CA2209214 | AGXT | c.709C>G (p.Pro237Ala) n.361C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875137C>T | CA351318056 | AGXT | c.709C>T (p.Pro237Ser) n.361C>T | |
2 | g.240875138C>A | CA351318058 | AGXT | c.710C>A (p.Pro237His) n.362C>A | |
2 | g.240875138C= | CA1339334180 | AGXT | c.710C= (p.Pro237=) n.362C= | |
2 | g.240875138C>G | CA351318059 | AGXT | c.710C>G (p.Pro237Arg) n.362C>G | |
2 | g.240875138C>T | CA2209215 | AGXT | c.710C>T (p.Pro237Leu) n.362C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875139C>A | CA432024387 | AGXT | c.711C>A (p.Pro237=) n.363C>A | dbSNP |
2 | g.240875139C= | CA1339334181 | AGXT | c.711C= (p.Pro237=) n.363C= | |
2 | g.240875139C>G | CA2209216 | AGXT | c.711C>G (p.Pro237=) n.363C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875139C>T | CA432024388 | AGXT | c.711C>T (p.Pro237=) n.363C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240875140T>A | CA351318065 | AGXT | c.712T>A (p.Phe238Ile) n.364T>A | |
2 | g.240875140T>C | CA351318068 | AGXT | c.712T>C (p.Phe238Leu) n.364T>C | gnomAD v4 |
2 | g.240875140T>G | CA68179707 | AGXT | c.712T>G (p.Phe238Val) n.364T>G | dbSNP |
2 | g.240875140T= | CA1339334182 | AGXT | c.712T= (p.Phe238=) n.364T= | |
2 | g.240875141T>A | CA351318070 | AGXT | c.713T>A (p.Phe238Tyr) n.365T>A | |
2 | g.240875141T>C | CA351318071 | AGXT | c.713T>C (p.Phe238Ser) n.365T>C | |
2 | g.240875141T>G | CA351318072 | AGXT | c.713T>G (p.Phe238Cys) n.365T>G | |
2 | g.240875142C>A | CA351318075 | AGXT | c.714C>A (p.Phe238Leu) n.366C>A | |
2 | g.240875142C>G | CA351318077 | AGXT | c.714C>G (p.Phe238Leu) n.366C>G | |
2 | g.240875142C>T | CA432024390 | AGXT | c.714C>T (p.Phe238=) n.366C>T | gnomAD v4 |
2 | g.240875142dup | CA2664009013 | AGXT | c.714dup (p.Ser239LeufsTer16) n.366dup | gnomAD v4 |
2 | g.240875144_240875146del | CA2695197716 | AGXT | c.716_718del (p.Ser239del) n.368_370del | ClinVar |
2 | g.240875143T>A | CA351318079 | AGXT | c.715T>A (p.Ser239Thr) n.367T>A | |
2 | g.240875143T>C | CA351318081 | AGXT | c.715T>C (p.Ser239Pro) n.367T>C | |
2 | g.240875143T>G | CA351318083 | AGXT | c.715T>G (p.Ser239Ala) n.367T>G | |
2 | g.240875144C>A | CA351318085 | AGXT | c.716C>A (p.Ser239Tyr) n.368C>A | |
2 | g.240875144C>G | CA351318086 | AGXT | c.716C>G (p.Ser239Cys) n.368C>G | |
2 | g.240875144C>T | CA351318087 | AGXT | c.716C>T (p.Ser239Phe) n.368C>T | |
2 | g.240875145dup | CA2664009019 | AGXT | c.717dup (p.Phe240LeufsTer15) n.369dup | gnomAD v4 |
2 | g.240875145C>A | CA432024392 | AGXT | c.717C>A (p.Ser239=) n.369C>A | |
2 | g.240875145C= | CA1339334183 | AGXT | c.717C= (p.Ser239=) n.369C= | |
2 | g.240875145C>G | CA432024391 | AGXT | c.717C>G (p.Ser239=) n.369C>G | |
2 | g.240875145C>T | CA2209217 | AGXT | c.717C>T (p.Ser239=) n.369C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240875147_240875149del | CA2664009026 | AGXT | c.719_721del (p.Phe240del) n.371_373del | ClinVar gnomAD v4 |
2 | g.240875146T>A | CA2209218 | AGXT | c.718T>A (p.Phe240Ile) n.370T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875146T>C | CA351318090 | AGXT | c.718T>C (p.Phe240Leu) n.370T>C | |
2 | g.240875146T>G | CA351318088 | AGXT | c.718T>G (p.Phe240Val) n.370T>G | |
2 | g.240875146T= | CA1339334184 | AGXT | c.718T= (p.Phe240=) n.370T= | |
2 | g.240875147T>A | CA351318092 | AGXT | c.719T>A (p.Phe240Tyr) n.371T>A | |
2 | g.240875147T>C | CA351318093 | AGXT | c.719T>C (p.Phe240Ser) n.371T>C | |
2 | g.240875147T>G | CA351318094 | AGXT | c.719T>G (p.Phe240Cys) n.371T>G | |
2 | g.240875148C>A | CA351318096 | AGXT | c.720C>A (p.Phe240Leu) n.372C>A | |
2 | g.240875148C>G | CA351318098 | AGXT | c.720C>G (p.Phe240Leu) n.372C>G | gnomAD v4 |
2 | g.240875148C>T | CA432024393 | AGXT | c.720C>T (p.Phe240=) n.372C>T | |
2 | g.240875149T>A | CA351318100 | AGXT | c.721T>A (p.Tyr241Asn) n.373T>A | |
2 | g.240875149T>C | CA2209219 | AGXT | c.721T>C (p.Tyr241His) n.373T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875149T>G | CA351318099 | AGXT | c.721T>G (p.Tyr241Asp) n.373T>G | |
2 | g.240875149T= | CA1339334185 | AGXT | c.721T= (p.Tyr241=) n.373T= | |
2 | g.240875150A>C | CA351318101 | AGXT | c.722A>C (p.Tyr241Ser) n.374A>C | |
2 | g.240875150A>G | CA351318102 | AGXT | c.722A>G (p.Tyr241Cys) n.374A>G | |
2 | g.240875150A>T | CA351318103 | AGXT | c.722A>T (p.Tyr241Phe) n.374A>T | |
2 | g.240875151C>A | CA351318104 | AGXT | c.723C>A (p.Tyr241Ter) n.375C>A | |
2 | g.240875151C= | CA1339334186 | AGXT | c.723C= (p.Tyr241=) n.375C= | |
2 | g.240875151C>G | CA351318114 | AGXT | c.723C>G (p.Tyr241Ter) n.375C>G | |
2 | g.240875151C>T | CA68179712 | AGXT | c.723C>T (p.Tyr241=) n.375C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875152C>A | CA351318118 | AGXT | c.724C>A (p.Leu242Met) n.376C>A | |
2 | g.240875152C= | CA1339334187 | AGXT | c.724C= (p.Leu242=) n.376C= | |
2 | g.240875152C>G | CA351318120 | AGXT | c.724C>G (p.Leu242Val) n.376C>G | gnomAD v4 |
2 | g.240875152C>T | CA432024395 | AGXT | c.724C>T (p.Leu242=) n.376C>T | ClinVar |
2 | g.240875153T>A | CA351318122 | AGXT | c.725T>A (p.Leu242Gln) n.377T>A | |
2 | g.240875153T>C | CA351318129 | AGXT | c.725T>C (p.Leu242Pro) n.377T>C | |
2 | g.240875153T>G | CA351318128 | AGXT | c.725T>G (p.Leu242Arg) n.377T>G | |
2 | g.240875153dup | CA275849 | AGXT | c.725dup (p.Asp243GlyfsTer12) n.377dup | ClinVar dbSNP |
2 | g.240875154G>A | CA432024400 | AGXT | c.726G>A (p.Leu242=) n.378G>A | ClinVar |
2 | g.240875154G>C | CA432024399 | AGXT | c.726G>C (p.Leu242=) n.378G>C | |
2 | g.240875154G>T | CA432024398 | AGXT | c.726G>T (p.Leu242=) n.378G>T |