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.240875101_240875148dup | CA540536870 | AGXT | c.681-8_720dup n.333-8_372dup | dbSNP gnomAD v2 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 | |
2 | g.240875155G>A | CA351318131 | AGXT | c.727G>A (p.Asp243Asn) n.379G>A | |
2 | g.240875155G>C | CA275733 | AGXT | c.727G>C (p.Asp243His) n.379G>C | ClinVar dbSNP COSMIC |
2 | g.240875155G= | CA1339334188 | AGXT | c.727G= (p.Asp243=) n.379G= | |
2 | g.240875155G>T | CA351318133 | AGXT | c.727G>T (p.Asp243Tyr) n.379G>T | dbSNP |
2 | g.240875156A= | CA1339334189 | AGXT | c.728A= (p.Asp243=) n.380A= | |
2 | g.240875156A>C | CA351318134 | AGXT | c.728A>C (p.Asp243Ala) n.380A>C | |
2 | g.240875156A>G | CA2209220 | AGXT | c.728A>G (p.Asp243Gly) n.380A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875156A>T | CA351318136 | AGXT | c.728A>T (p.Asp243Val) n.380A>T | |
2 | g.240875157C>A | CA351318138 | AGXT | c.729C>A (p.Asp243Glu) n.381C>A | |
2 | g.240875157C= | CA1339334190 | AGXT | c.729C= (p.Asp243=) n.381C= | |
2 | g.240875157C>G | CA351318140 | AGXT | c.729C>G (p.Asp243Glu) n.381C>G | |
2 | g.240875157C>T | CA432024403 | AGXT | c.729C>T (p.Asp243=) n.381C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240875158A= | CA1339334191 | AGXT | c.730A= (p.Ile244=) n.382A= | |
2 | g.240875158A>C | CA351318141 | AGXT | c.730A>C (p.Ile244Leu) n.382A>C | |
2 | g.240875158A>G | CA2209221 | AGXT | c.730A>G (p.Ile244Val) n.382A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875158A>T | CA351318144 | AGXT | c.730A>T (p.Ile244Phe) n.382A>T | |
2 | g.240875159T>A | CA351318146 | AGXT | c.731T>A (p.Ile244Asn) n.383T>A | ClinVar |
2 | g.240875159T>C | CA340445 | AGXT | c.731T>C (p.Ile244Thr) n.383T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875159T>G | CA351318148 | AGXT | c.731T>G (p.Ile244Ser) n.383T>G | |
2 | g.240875159T= | CA1339334192 | AGXT | c.731T= (p.Ile244=) n.383T= | |
2 | g.240875160C>A | CA2209222 | AGXT | c.732C>A (p.Ile244=) n.384C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875160C= | CA1339334193 | AGXT | c.732C= (p.Ile244=) n.384C= | |
2 | g.240875160C>G | CA68179721 | AGXT | c.732C>G (p.Ile244Met) n.384C>G | dbSNP gnomAD v4 |
2 | g.240875160C>T | CA432024405 | AGXT | c.732C>T (p.Ile244=) n.384C>T | |
2 | g.240875161A>C | CA351318155 | AGXT | c.733A>C (p.Lys245Gln) n.385A>C | |
2 | g.240875161A>G | CA351318157 | AGXT | c.733A>G (p.Lys245Glu) n.385A>G | |
2 | g.240875161A>T | CA351318158 | AGXT | c.733A>T (p.Lys245Ter) n.385A>T | |
2 | g.240875161_240875162del | CA915940274 | AGXT | c.733_734del (p.Lys245ValfsTer9) n.385_386del | ClinVar |
2 | g.240875162A>C | CA351318161 | AGXT | c.734A>C (p.Lys245Thr) n.386A>C | |
2 | g.240875162A>G | CA351318162 | AGXT | c.734A>G (p.Lys245Arg) n.386A>G | |
2 | g.240875162A>T | CA351318164 | AGXT | c.734A>T (p.Lys245Met) n.386A>T | |
2 | g.240875163G>A | CA2209223 | AGXT | c.735G>A (p.Lys245=) n.387G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875163G>C | CA351318167 | AGXT | c.735G>C (p.Lys245Asn) n.387G>C | |
2 | g.240875163G= | CA1339334194 | AGXT | c.735G= (p.Lys245=) n.387G= | |
2 | g.240875163G>T | CA351318169 | AGXT | c.735G>T (p.Lys245Asn) n.387G>T | |
2 | g.240875164T>A | CA351318170 | AGXT | c.736T>A (p.Trp246Arg) n.388T>A | |
2 | g.240875164T>C | CA351318171 | AGXT | c.736T>C (p.Trp246Arg) n.388T>C | gnomAD v4 |
2 | g.240875164T>G | CA351318173 | AGXT | c.736T>G (p.Trp246Gly) n.388T>G | |
2 | g.240875165G>A | CA274296 | AGXT | c.737G>A (p.Trp246Ter) n.389G>A | ClinVar dbSNP |
2 | g.240875165G>C | CA351318175 | AGXT | c.737G>C (p.Trp246Ser) n.389G>C | |
2 | g.240875165G= | CA1339334195 | AGXT | c.737G= (p.Trp246=) n.389G= | |
2 | g.240875165G>T | CA351318174 | AGXT | c.737G>T (p.Trp246Leu) n.389G>T | |
2 | g.240875166G>A | CA340447 | AGXT | c.738G>A (p.Trp246Ter) n.390G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240875166G>C | CA351318176 | AGXT | c.738G>C (p.Trp246Cys) n.390G>C | |
2 | g.240875166G= | CA1339334196 | AGXT | c.738G= (p.Trp246=) n.390G= | |
2 | g.240875166G>T | CA351318177 | AGXT | c.738G>T (p.Trp246Cys) n.390G>T | |
2 | g.240875167C>A | CA351318179 | AGXT | c.739C>A (p.Leu247Met) n.391C>A | |
2 | g.240875167C>G | CA351318181 | AGXT | c.739C>G (p.Leu247Val) n.391C>G | |
2 | g.240875167C>T | CA432024407 | AGXT | c.739C>T (p.Leu247=) n.391C>T | |
2 | g.240875168T>A | CA351318184 | AGXT | c.740T>A (p.Leu247Gln) n.392T>A | |
2 | g.240875168T>C | CA351318185 | AGXT | c.740T>C (p.Leu247Pro) n.392T>C | |
2 | g.240875168T>G | CA2209224 | AGXT | c.740T>G (p.Leu247Arg) n.392T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875168T= | CA1339334197 | AGXT | c.740T= (p.Leu247=) n.392T= | |
2 | g.240875169G>A | CA432024409 | AGXT | c.741G>A (p.Leu247=) n.393G>A | ClinVar dbSNP |
2 | g.240875169G>C | CA432024411 | AGXT | c.741G>C (p.Leu247=) n.393G>C | |
2 | g.240875169G>T | CA432024410 | AGXT | c.741G>T (p.Leu247=) n.393G>T | |
2 | g.240875170G>A | CA68179728 | AGXT | c.742G>A (p.Ala248Thr) n.394G>A | dbSNP |
2 | g.240875170G>C | CA351318189 | AGXT | c.742G>C (p.Ala248Pro) n.394G>C | |
2 | g.240875170G= | CA1339334199 | AGXT | c.742G= (p.Ala248=) n.394G= | |
2 | g.240875170G>T | CA275588 | AGXT | c.742G>T (p.Ala248Ser) n.394G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875170_240875171delinsGC | CA1339334198 | AGXT | c.742_743delinsGC (p.Ala248=) n.394_395delinsGC | |
2 | g.240875171C>A | CA351318193 | AGXT | c.743C>A (p.Ala248Asp) n.395C>A | gnomAD v4 |
2 | g.240875171C= | CA1339334200 | AGXT | c.743C= (p.Ala248=) n.395C= | |
2 | g.240875171C>G | CA351318192 | AGXT | c.743C>G (p.Ala248Gly) n.395C>G | dbSNP gnomAD v4 |
2 | g.240875171C>T | CA2209225 | AGXT | c.743C>T (p.Ala248Val) n.395C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875172del | CA275850 | AGXT | c.744del (p.Asn249ThrfsTer24) n.396del | ClinVar dbSNP |
2 | g.240875172C>A | CA432024412 | AGXT | c.744C>A (p.Ala248=) n.396C>A | |
2 | g.240875172C>G | CA432024413 | AGXT | c.744C>G (p.Ala248=) n.396C>G | |
2 | g.240875172C>T | CA432024414 | AGXT | c.744C>T (p.Ala248=) n.396C>T | |
2 | g.240875173A= | CA1339334201 | AGXT | c.745A= (p.Asn249=) n.397A= | |
2 | g.240875173A>C | CA351318196 | AGXT | c.745A>C (p.Asn249His) n.397A>C | dbSNP |
2 | g.240875173A>G | CA351318199 | AGXT | c.745A>G (p.Asn249Asp) n.397A>G | gnomAD v4 |
2 | g.240875173A>T | CA351318201 | AGXT | c.745A>T (p.Asn249Tyr) n.397A>T | |
2 | g.240875174A>C | CA351318203 | AGXT | c.746A>C (p.Asn249Thr) n.398A>C | |
2 | g.240875174A>G | CA351318206 | AGXT | c.746A>G (p.Asn249Ser) n.398A>G | |
2 | g.240875174A>T | CA351318207 | AGXT | c.746A>T (p.Asn249Ile) n.398A>T | |
2 | g.240875175C>A | CA351318209 | AGXT | c.747C>A (p.Asn249Lys) n.399C>A | |
2 | g.240875175C>G | CA351318210 | AGXT | c.747C>G (p.Asn249Lys) n.399C>G | |
2 | g.240875175C>T | CA432024415 | AGXT | c.747C>T (p.Asn249=) n.399C>T | |
2 | g.240875176T>A | CA351318211 | AGXT | c.748T>A (p.Phe250Ile) n.400T>A | |
2 | g.240875176T>C | CA351318212 | AGXT | c.748T>C (p.Phe250Leu) n.400T>C | |
2 | g.240875176T>G | CA351318213 | AGXT | c.748T>G (p.Phe250Val) n.400T>G | COSMIC |
2 | g.240875177T>A | CA351318215 | AGXT | c.749T>A (p.Phe250Tyr) n.401T>A | |
2 | g.240875177T>C | CA351318216 | AGXT | c.749T>C (p.Phe250Ser) n.401T>C | |
2 | g.240875177T>G | CA351318214 | AGXT | c.749T>G (p.Phe250Cys) n.401T>G | |
2 | g.240875178C>A | CA351318218 | AGXT | c.750C>A (p.Phe250Leu) n.402C>A | |
2 | g.240875178C>G | CA351318217 | AGXT | c.750C>G (p.Phe250Leu) n.402C>G | |
2 | g.240875178C>T | CA432024416 | AGXT | c.750C>T (p.Phe250=) n.402C>T | |
2 | g.240875179T>A | CA351318219 | AGXT | c.751T>A (p.Trp251Arg) n.403T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875179T>C | CA2209226 | AGXT | c.751T>C (p.Trp251Arg) n.403T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875179T>G | CA351318220 | AGXT | c.751T>G (p.Trp251Gly) n.403T>G | |
2 | g.240875179T= | CA1339334203 | AGXT | c.751T= (p.Trp251=) n.403T= | |
2 | g.240875179_240875180delinsAA | CA275851 | AGXT | c.751_752delinsAA (p.Trp251Lys) n.403_404delinsAA | ClinVar dbSNP |
2 | g.240875179_240875180delinsTG | CA1339334202 | AGXT | c.751_752delinsTG (p.Trp251=) n.403_404delinsTG | |
2 | g.240875180G>A | CA274094 | AGXT | c.752G>A (p.Trp251Ter) n.404G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875180G>C | CA351318222 | AGXT | c.752G>C (p.Trp251Ser) n.404G>C | gnomAD v4 |
2 | g.240875180G= | CA1339334204 | AGXT | c.752G= (p.Trp251=) n.404G= | |
2 | g.240875180G>T | CA351318221 | AGXT | c.752G>T (p.Trp251Leu) n.404G>T | |
2 | g.240875181G>A | CA275734 | AGXT | c.753G>A (p.Trp251Ter) n.405G>A | ClinVar dbSNP |
2 | g.240875181G>C | CA351318223 | AGXT | c.753G>C (p.Trp251Cys) n.405G>C | |
2 | g.240875181G= | CA1339334205 | AGXT | c.753G= (p.Trp251=) n.405G= | |
2 | g.240875181G>T | CA351318224 | AGXT | c.753G>T (p.Trp251Cys) n.405G>T | |
2 | g.240875182G>A | CA351318225 | AGXT | c.754G>A (p.Gly252Ser) n.406G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875182G>C | CA351318226 | AGXT | c.754G>C (p.Gly252Arg) n.406G>C | |
2 | g.240875182G= | CA1339334206 | AGXT | c.754G= (p.Gly252=) n.406G= | |
2 | g.240875182G>T | CA351318227 | AGXT | c.754G>T (p.Gly252Cys) n.406G>T | |
2 | g.240875183G>A | CA351318228 | AGXT | c.755G>A (p.Gly252Asp) n.407G>A | |
2 | g.240875183G>C | CA351318230 | AGXT | c.755G>C (p.Gly252Ala) n.407G>C | |
2 | g.240875183G>T | CA351318229 | AGXT | c.755G>T (p.Gly252Val) n.407G>T | gnomAD v4 |
2 | g.240875184C>A | CA432024419 | AGXT | c.756C>A (p.Gly252=) n.408C>A | |
2 | g.240875184C>G | CA432024421 | AGXT | c.756C>G (p.Gly252=) n.408C>G | |
2 | g.240875184C>T | CA432024418 | AGXT | c.756C>T (p.Gly252=) n.408C>T | |
2 | g.240875185T>A | CA351318231 | AGXT | c.757T>A (p.Cys253Ser) n.409T>A | |
2 | g.240875185T>C | CA275736 | AGXT | c.757T>C (p.Cys253Arg) n.409T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875185T>G | CA351318232 | AGXT | c.757T>G (p.Cys253Gly) n.409T>G | |
2 | g.240875185T= | CA1339334207 | AGXT | c.757T= (p.Cys253=) n.409T= | |
2 | g.240875187_240875188del | CA2577302676 | AGXT | c.759_760del (p.Cys253Ter) n.411_412del | |
2 | g.240875186G>A | CA351318233 | AGXT | c.758G>A (p.Cys253Tyr) n.410G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875186G>C | CA2209227 | AGXT | c.758G>C (p.Cys253Ser) n.410G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875186G= | CA1339334208 | AGXT | c.758G= (p.Cys253=) n.410G= | |
2 | g.240875186G>T | CA351318234 | AGXT | c.758G>T (p.Cys253Phe) n.410G>T | COSMIC |
2 | g.240875187T>A | CA351318235 | AGXT | c.759T>A (p.Cys253Ter) n.411T>A | |
2 | g.240875187T>C | CA432024422 | AGXT | c.759T>C (p.Cys253=) n.411T>C | ClinVar dbSNP gnomAD v4 |
2 | g.240875187T>G | CA351318236 | AGXT | c.759T>G (p.Cys253Trp) n.411T>G | |
2 | g.240875188G>A | CA351318237 | AGXT | c.760G>A (p.Asp254Asn) n.412G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875188G>C | CA351318238 | AGXT | c.760G>C (p.Asp254His) n.412G>C | |
2 | g.240875188G= | CA1339334209 | AGXT | c.760G= (p.Asp254=) n.412G= | |
2 | g.240875188G>T | CA351318239 | AGXT | c.760G>T (p.Asp254Tyr) n.412G>T | |
2 | g.240875188_240875189insT | CA2697550618 | AGXT | c.760_761insT (p.Asp254ValfsTer?) n.412_413insT | ClinVar |
2 | g.240875189A= | CA1339334210 | AGXT | c.761A= (p.Asp254=) n.413A= | |
2 | g.240875189A>C | CA351318242 | AGXT | c.761A>C (p.Asp254Ala) n.413A>C | dbSNP |
2 | g.240875189A>G | CA351318241 | AGXT | c.761A>G (p.Asp254Gly) n.413A>G | |
2 | g.240875189A>T | CA351318240 | AGXT | c.761A>T (p.Asp254Val) n.413A>T | |
2 | g.240875190C>A | CA351318243 | AGXT | c.762C>A (p.Asp254Glu) n.414C>A | |
2 | g.240875190C= | CA1339334211 | AGXT | c.762C= (p.Asp254=) n.414C= | |
2 | g.240875190C>G | CA351318244 | AGXT | c.762C>G (p.Asp254Glu) n.414C>G | |
2 | g.240875190C>T | CA2209228 | AGXT | c.762C>T (p.Asp254=) n.414C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875191G>A | CA2209229 | AGXT | c.763G>A (p.Asp255Asn) n.415G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875191G>C | CA351318245 | AGXT | c.763G>C (p.Asp255His) n.415G>C | |
2 | g.240875191G= | CA1339334212 | AGXT | c.763G= (p.Asp255=) n.415G= | |
2 | g.240875191G>T | CA351318246 | AGXT | c.763G>T (p.Asp255Tyr) n.415G>T | gnomAD v4 |
2 | g.240875192A>C | CA351318247 | AGXT | c.764A>C (p.Asp255Ala) n.416A>C | |
2 | g.240875192A>G | CA351318248 | AGXT | c.764A>G (p.Asp255Gly) n.416A>G | gnomAD v4 |
2 | g.240875192A>T | CA351318249 | AGXT | c.764A>T (p.Asp255Val) n.416A>T | |
2 | g.240875193C>A | CA351318250 | AGXT | c.765C>A (p.Asp255Glu) n.417C>A | |
2 | g.240875193C= | CA1339334213 | AGXT | c.765C= (p.Asp255=) n.417C= | |
2 | g.240875193C>G | CA351318251 | AGXT | c.765C>G (p.Asp255Glu) n.417C>G | |
2 | g.240875193C>T | CA432024426 | AGXT | c.765C>T (p.Asp255=) n.417C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875194del | CA2586971641 | AGXT | c.766del (p.Gln256SerfsTer17) n.418del | ClinVar |
2 | g.240875194C>A | CA351318252 | AGXT | c.766C>A (p.Gln256Lys) n.418C>A | |
2 | g.240875194C>G | CA351318253 | AGXT | c.766C>G (p.Gln256Glu) n.418C>G | |
2 | g.240875194C>T | CA351318254 | AGXT | c.766C>T (p.Gln256Ter) n.418C>T | |
2 | g.240875195A>C | CA351318257 | AGXT | c.767A>C (p.Gln256Pro) n.419A>C | |
2 | g.240875195A>G | CA351318256 | AGXT | c.767A>G (p.Gln256Arg) n.419A>G | |
2 | g.240875195A>T | CA351318255 | AGXT | c.767A>T (p.Gln256Leu) n.419A>T | |
2 | g.240875196G>A | CA432024429 | AGXT | c.768G>A (p.Gln256=) n.420G>A | |
2 | g.240875196G>C | CA351318258 | AGXT | c.768G>C (p.Gln256His) n.420G>C | |
2 | g.240875196G>T | CA351318259 | AGXT | c.768G>T (p.Gln256His) n.420G>T | gnomAD v4 |
2 | g.240875197C>A | CA351318260 | AGXT | c.769C>A (p.Pro257Thr) n.421C>A | |
2 | g.240875197C>G | CA351318261 | AGXT | c.769C>G (p.Pro257Ala) n.421C>G | |
2 | g.240875197C>T | CA351318262 | AGXT | c.769C>T (p.Pro257Ser) n.421C>T | |
2 | g.240875198C>A | CA2209230 | AGXT | c.770C>A (p.Pro257His) n.422C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875198C= | CA1339334214 | AGXT | c.770C= (p.Pro257=) n.422C= | |
2 | g.240875198C>G | CA351318263 | AGXT | c.770C>G (p.Pro257Arg) n.422C>G | |
2 | g.240875198C>T | CA351318264 | AGXT | c.770C>T (p.Pro257Leu) n.422C>T | dbSNP |
2 | g.240875199C>A | CA432024432 | AGXT | c.771C>A (p.Pro257=) n.423C>A | ClinVar |
2 | g.240875199C= | CA1339334215 | AGXT | c.771C= (p.Pro257=) n.423C= | |
2 | g.240875199C>G | CA432024433 | AGXT | c.771C>G (p.Pro257=) n.423C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875199C>T | CA432024434 | AGXT | c.771C>T (p.Pro257=) n.423C>T | gnomAD v4 |
2 | g.240875200A>C | CA432024435 | AGXT | c.772A>C (p.Arg258=) n.424A>C | |
2 | g.240875200A>G | CA351318265 | AGXT | c.772A>G (p.Arg258Gly) n.424A>G | gnomAD v4 |
2 | g.240875200A>T | CA351318266 | AGXT | c.772A>T (p.Arg258Trp) n.424A>T | |
2 | g.240875201G>A | CA351318267 | AGXT | c.773G>A (p.Arg258Lys) n.425G>A | |
2 | g.240875201G>C | CA351318268 | AGXT | c.773G>C (p.Arg258Thr) n.425G>C | gnomAD v4 |
2 | g.240875201G>T | CA351318269 | AGXT | c.773G>T (p.Arg258Met) n.425G>T | |
2 | g.240875202G>A | CA432024439 | AGXT | c.774G>A (p.Arg258=) n.426G>A | ClinVar gnomAD v4 COSMIC |
2 | g.240875202G>C | CA351318270 | AGXT | c.774G>C (p.Arg258Ser) n.426G>C | |
2 | g.240875202G= | CA1339334216 | AGXT | c.774G= (p.Arg258=) n.426G= | |
2 | g.240875202G>T | CA2209231 | AGXT | c.774G>T (p.Arg258Ser) n.426G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875203A= | CA1339334217 | AGXT | c.775A= (p.Met259=) n.427A= | |
2 | g.240875203A>C | CA68179741 | AGXT | c.775A>C (p.Met259Leu) n.427A>C | dbSNP gnomAD v4 |
2 | g.240875203A>G | CA351318272 | AGXT | c.775A>G (p.Met259Val) n.427A>G | |
2 | g.240875203A>T | CA351318271 | AGXT | c.775A>T (p.Met259Leu) n.427A>T | |
2 | g.240875204T>A | CA351318273 | AGXT | c.776T>A (p.Met259Lys) n.428T>A | |
2 | g.240875204T>C | CA351318275 | AGXT | c.776T>C (p.Met259Thr) n.428T>C | dbSNP gnomAD v4 |
2 | g.240875204T>G | CA351318274 | AGXT | c.776T>G (p.Met259Arg) n.428T>G | |
2 | g.240875204T= | CA1339334218 | AGXT | c.776T= (p.Met259=) n.428T= |