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.240875117_240875134del | CA2577302675 | AGXT | c.689_706del (p.Met230_Thr235del) n.341_358del | |
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 |