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.240875025C>A | CA68179641 | AGXT | c.681-84C>A (n.681-84C>A) n.333-84C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875025C= | CA1339334114 | AGXT | c.681-84C= (n.681-84C=) n.333-84C= | |
2 | g.240875025C>G | CA2664008694 | AGXT | c.681-84C>G (n.681-84C>G) n.333-84C>G | gnomAD v4 |
2 | g.240875025C>T | CA68179644 | AGXT | c.681-84C>T (n.681-84C>T) n.333-84C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875026G>A | CA68179646 | AGXT | c.681-83G>A (n.681-83G>A) n.333-83G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875026G= | CA1339334115 | AGXT | c.681-83G= (n.681-83G=) n.333-83G= | |
2 | g.240875026G>T | CA2664008697 | AGXT | c.681-83G>T (n.681-83G>T) n.333-83G>T | gnomAD v4 |
2 | g.240875028G>C | CA2664008698 | AGXT | c.681-81G>C (n.681-81G>C) n.333-81G>C | gnomAD v4 |
2 | g.240875028G>T | CA2664008699 | AGXT | c.681-81G>T (n.681-81G>T) n.333-81G>T | gnomAD v4 |
2 | g.240875032C>A | CA2664008700 | AGXT | c.681-77C>A (n.681-77C>A) n.333-77C>A | gnomAD v4 |
2 | g.240875032C= | CA1339334116 | AGXT | c.681-77C= (n.681-77C=) n.333-77C= | |
2 | g.240875032C>T | CA1339334117 | AGXT | c.681-77C>T (n.681-77C>T) n.333-77C>T | dbSNP |
2 | g.240875033A>G | CA2577302662 | AGXT | c.681-76A>G (n.681-76A>G) n.333-76A>G | gnomAD v4 |
2 | g.240875033A>T | CA2664008702 | AGXT | c.681-76A>T (n.681-76A>T) n.333-76A>T | gnomAD v4 |
2 | g.240875034G>A | CA2664008704 | AGXT | c.681-75G>A (n.681-75G>A) n.333-75G>A | gnomAD v4 |
2 | g.240875034G>C | CA68179648 | AGXT | c.681-75G>C (n.681-75G>C) n.333-75G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875034G= | CA1339334118 | AGXT | c.681-75G= (n.681-75G=) n.333-75G= | |
2 | g.240875034G>T | CA2664008706 | AGXT | c.681-75G>T (n.681-75G>T) n.333-75G>T | gnomAD v4 |
2 | g.240875036A= | CA1339334119 | AGXT | c.681-73A= (n.681-73A=) n.333-73A= | |
2 | g.240875036A>G | CA540536853 | AGXT | c.681-73A>G (n.681-73A>G) n.333-73A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875037C>A | CA2577302663 | AGXT | c.681-72C>A (n.681-72C>A) n.333-72C>A | |
2 | g.240875037C= | CA1339334120 | AGXT | c.681-72C= (n.681-72C=) n.333-72C= | |
2 | g.240875037C>T | CA540536855 | AGXT | c.681-72C>T (n.681-72C>T) n.333-72C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875038A= | CA1339334121 | AGXT | c.681-71A= (n.681-71A=) n.333-71A= | |
2 | g.240875038A>G | CA68179651 | AGXT | c.681-71A>G (n.681-71A>G) n.333-71A>G | dbSNP gnomAD v4 |
2 | g.240875039G>A | CA2577302664 | AGXT | c.681-70G>A (n.681-70G>A) n.333-70G>A | gnomAD v4 |
2 | g.240875040C>A | CA2664008714 | AGXT | c.681-69C>A (n.681-69C>A) n.333-69C>A | gnomAD v4 |
2 | g.240875040C>T | CA2664008715 | AGXT | c.681-69C>T (n.681-69C>T) n.333-69C>T | gnomAD v4 |
2 | g.240875041C>T | CA2664008716 | AGXT | c.681-68C>T (n.681-68C>T) n.333-68C>T | gnomAD v4 |
2 | g.240875042A= | CA1339334122 | AGXT | c.681-67A= (n.681-67A=) n.333-67A= | |
2 | g.240875042A>G | CA68179654 | AGXT | c.681-67A>G (n.681-67A>G) n.333-67A>G | dbSNP gnomAD v4 |
2 | g.240875043G>T | CA2664008720 | AGXT | c.681-66G>T (n.681-66G>T) n.333-66G>T | gnomAD v4 |
2 | g.240875044C>A | CA2664008723 | AGXT | c.681-65C>A (n.681-65C>A) n.333-65C>A | gnomAD v4 |
2 | g.240875044C= | CA1339334123 | AGXT | c.681-65C= (n.681-65C=) n.333-65C= | |
2 | g.240875044C>T | CA68179656 | AGXT | c.681-65C>T (n.681-65C>T) n.333-65C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875045G>A | CA68179658 | AGXT | c.681-64G>A (n.681-64G>A) n.333-64G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.240875045G= | CA1339334124 | AGXT | c.681-64G= (n.681-64G=) n.333-64G= | |
2 | g.240875045G>T | CA2664008729 | AGXT | c.681-64G>T (n.681-64G>T) n.333-64G>T | gnomAD v4 |
2 | g.240875046A>G | CA2664008731 | AGXT | c.681-63A>G (n.681-63A>G) n.333-63A>G | gnomAD v4 |
2 | g.240875047G>A | CA2664008732 | AGXT | c.681-62G>A (n.681-62G>A) n.333-62G>A | gnomAD v4 |
2 | g.240875047G>C | CA2664008734 | AGXT | c.681-62G>C (n.681-62G>C) n.333-62G>C | gnomAD v4 |
2 | g.240875048A= | CA1339334125 | AGXT | c.681-61A= (n.681-61A=) n.333-61A= | |
2 | g.240875048A>C | CA1339334126 | AGXT | c.681-61A>C (n.681-61A>C) n.333-61A>C | dbSNP |
2 | g.240875048A>T | CA68179661 | AGXT | c.681-61A>T (n.681-61A>T) n.333-61A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875049C>A | CA2664008739 | AGXT | c.681-60C>A (n.681-60C>A) n.333-60C>A | gnomAD v4 |
2 | g.240875049C= | CA1339334127 | AGXT | c.681-60C= (n.681-60C=) n.333-60C= | |
2 | g.240875049C>T | CA766964818 | AGXT | c.681-60C>T (n.681-60C>T) n.333-60C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875050T>C | CA1339334129 | AGXT | c.681-59T>C (n.681-59T>C) n.333-59T>C | dbSNP gnomAD v4 |