Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.209776065T>C | CA1324702572 | UNC80 | c.298+20T>C (n.298+20T>C) n.378+20T>C c.-57+20T>C (n.-57+20T>C) | dbSNP |
2 | g.209776065T= | CA1324702571 | UNC80 | c.298+20T= (n.298+20T=) n.378+20T= c.-57+20T= (n.-57+20T=) | |
2 | g.209776066C= | CA1324702573 | UNC80 | c.298+21C= (n.298+21C=) n.378+21C= c.-57+21C= (n.-57+21C=) | |
2 | g.209776067T>C | CA64645186 | UNC80 | c.298+22T>C (n.298+22T>C) n.378+22T>C c.-57+22T>C (n.-57+22T>C) | dbSNP |
2 | g.209776067T= | CA1324702574 | UNC80 | c.298+22T= (n.298+22T=) n.378+22T= c.-57+22T= (n.-57+22T=) | |
2 | g.209776069_209776070insTTTTT | CA539101123 | UNC80 | c.298+24_298+25insTTTTT (n.298+24_298+25insTTTTT) n.378+24_378+25insTTTTT c.-57+24_-57+25insTTTTT (n.-57+24_-57+25insTTTTT) | gnomAD v2 gnomAD v4 |
2 | g.209776069_209776070insTTTTTT | CA2082710 | UNC80 | c.298+24_298+25insTTTTTT (n.298+24_298+25insTTTTTT) n.378+24_378+25insTTTTTT c.-57+24_-57+25insTTTTTT (n.-57+24_-57+25insTTTTTT) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTT | CA539101127 | UNC80 | c.298+24_298+25insTTTTTTT (n.298+24_298+25insTTTTTTT) n.378+24_378+25insTTTTTTT c.-57+24_-57+25insTTTTTTT (n.-57+24_-57+25insTTTTTTT) | gnomAD v2 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTT | CA2082711 | UNC80 | c.298+24_298+25insTTTTTTTTT (n.298+24_298+25insTTTTTTTTT) n.378+24_378+25insTTTTTTTTT c.-57+24_-57+25insTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTT) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTT | CA539101129 | UNC80 | c.298+24_298+25insTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTT) | gnomAD v2 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTT | CA2082712 | UNC80 | c.298+24_298+25insTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTT) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTT | CA2662896479 | UNC80 | c.298+24_298+25insTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTT) | gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTT | CA2530951839 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTT) | gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTT | CA2662896477 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTT) | gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTTTTT | CA1041851270 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTTTTTTT | CA2662896476 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTT | CA539101132 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTT | CA2662896474 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1041851285 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2607330027 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
2 | g.209776069_209776070insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA539101134 | UNC80 | c.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.298+24_298+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.378+24_378+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-57+24_-57+25insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776069T>C | CA539101137 | UNC80 | c.298+24T>C (n.298+24T>C) n.378+24T>C c.-57+24T>C (n.-57+24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776069T= | CA1324702575 | UNC80 | c.298+24T= (n.298+24T=) n.378+24T= c.-57+24T= (n.-57+24T=) | |
2 | g.209776070A= | CA1324702576 | UNC80 | c.298+25A= (n.298+25A=) n.378+25A= c.-57+25A= (n.-57+25A=) | |
2 | g.209776070A>T | CA2082713 | UNC80 | c.298+25A>T (n.298+25A>T) n.378+25A>T c.-57+25A>T (n.-57+25A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776072T= | CA1324702577 | UNC80 | c.298+27T= (n.298+27T=) n.378+27T= c.-57+27T= (n.-57+27T=) | |
2 | g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCT | CA2662896485 | UNC80 | c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCT (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCT) n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCT c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCT (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCT) | gnomAD v4 |
2 | g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCT | CA2662896486 | UNC80 | c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT) n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCT) | gnomAD v4 |
2 | g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT | CA2662896487 | UNC80 | c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT) n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT) | gnomAD v4 |
2 | g.209776072_209776086delinsTGCATGTGATTGCCC | CA1324702578 | UNC80 | c.298+27_298+41delinsTGCATGTGATTGCCC (n.298+27_298+41delinsTGCATGTGATTGCCC) n.378+27_378+41delinsTGCATGTGATTGCCC c.-57+27_-57+41delinsTGCATGTGATTGCCC (n.-57+27_-57+41delinsTGCATGTGATTGCCC) | |
2 | g.209776072_209776073insTTTTTTTTTTGAGACG | CA2082715 | UNC80 | c.298+27_298+28insTTTTTTTTTTGAGACG (n.298+27_298+28insTTTTTTTTTTGAGACG) n.378+27_378+28insTTTTTTTTTTGAGACG c.-57+27_-57+28insTTTTTTTTTTGAGACG (n.-57+27_-57+28insTTTTTTTTTTGAGACG) | dbSNP ExAC |
2 | g.209776072_209776073insTTTTTTTTTTTGAGAC | CA2662896488 | UNC80 | c.298+27_298+28insTTTTTTTTTTTGAGAC (n.298+27_298+28insTTTTTTTTTTTGAGAC) n.378+27_378+28insTTTTTTTTTTTGAGAC c.-57+27_-57+28insTTTTTTTTTTTGAGAC (n.-57+27_-57+28insTTTTTTTTTTTGAGAC) | gnomAD v4 |
2 | g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTC | CA2662896490 | UNC80 | c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTC (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTC) n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTC c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTC (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTC) | gnomAD v4 |
2 | g.209776072_209776073insTTTTTTTTTTTTTTTTTTTTTTTTGACGG | CA2754087548 | UNC80 | c.298+27_298+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG (n.298+27_298+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG) n.378+27_378+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG c.-57+27_-57+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG (n.-57+27_-57+28insTTTTTTTTTTTTTTTTTTTTTTTTGACGG) | |
2 | g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC | CA2082716 | UNC80 | c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC) n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC) | dbSNP ExAC |
2 | g.209776072_209776073insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC | CA2662896489 | UNC80 | c.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC (n.298+27_298+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC) n.378+27_378+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC c.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC (n.-57+27_-57+28insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC) | gnomAD v4 |
2 | g.209776073G= | CA1324702579 | UNC80 | c.298+28G= (n.298+28G=) n.378+28G= c.-57+28G= (n.-57+28G=) | |
2 | g.209776073G>T | CA2082717 | UNC80 | c.298+28G>T (n.298+28G>T) n.378+28G>T c.-57+28G>T (n.-57+28G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776073_209776086del | CA2082714 | UNC80 | c.298+28_298+41del (n.298+28_298+41del) n.378+28_378+41del c.-57+28_-57+41del (n.-57+28_-57+41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776073_209776074insAGACGGAGTCTCGCTCTGTCGCC | CA539101143 | UNC80 | c.298+28_298+29insAGACGGAGTCTCGCTCTGTCGCC (n.298+28_298+29insAGACGGAGTCTCGCTCTGTCGCC) n.378+28_378+29insAGACGGAGTCTCGCTCTGTCGCC c.-57+28_-57+29insAGACGGAGTCTCGCTCTGTCGCC (n.-57+28_-57+29insAGACGGAGTCTCGCTCTGTCGCC) | gnomAD v2 |
2 | g.209776074C>A | CA2662896491 | UNC80 | c.298+29C>A (n.298+29C>A) n.378+29C>A c.-57+29C>A (n.-57+29C>A) | gnomAD v4 |
2 | g.209776074C= | CA1324702580 | UNC80 | c.298+29C= (n.298+29C=) n.378+29C= c.-57+29C= (n.-57+29C=) | |
2 | g.209776074C>G | CA2662896492 | UNC80 | c.298+29C>G (n.298+29C>G) n.378+29C>G c.-57+29C>G (n.-57+29C>G) | gnomAD v4 |
2 | g.209776074C>T | CA2082718 | UNC80 | c.298+29C>T (n.298+29C>T) n.378+29C>T c.-57+29C>T (n.-57+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.209776075A= | CA1324702581 | UNC80 | c.298+30A= (n.298+30A=) n.378+30A= c.-57+30A= (n.-57+30A=) | |
2 | g.209776075A>T | CA2082719 | UNC80 | c.298+30A>T (n.298+30A>T) n.378+30A>T c.-57+30A>T (n.-57+30A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.209776076T>G | CA2082720 | UNC80 | c.298+31T>G (n.298+31T>G) n.378+31T>G c.-57+31T>G (n.-57+31T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.209776076T= | CA1324702582 | UNC80 | c.298+31T= (n.298+31T=) n.378+31T= c.-57+31T= (n.-57+31T=) | |
2 | g.209776077G>A | CA64645262 | UNC80 | c.298+32G>A (n.298+32G>A) n.378+32G>A c.-57+32G>A (n.-57+32G>A) | dbSNP |
2 | g.209776077G= | CA1324702583 | UNC80 | c.298+32G= (n.298+32G=) n.378+32G= c.-57+32G= (n.-57+32G=) | |
2 | g.209776078T>C | CA539101145 | UNC80 | c.298+33T>C (n.298+33T>C) n.378+33T>C c.-57+33T>C (n.-57+33T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.209776078T>G | CA2662896496 | UNC80 | c.298+33T>G (n.298+33T>G) n.378+33T>G c.-57+33T>G (n.-57+33T>G) | gnomAD v4 |
2 | g.209776078T= | CA1324702584 | UNC80 | c.298+33T= (n.298+33T=) n.378+33T= c.-57+33T= (n.-57+33T=) | |
2 | g.209776080A>G | CA2662896498 | UNC80 | c.298+35A>G (n.298+35A>G) n.378+35A>G c.-57+35A>G (n.-57+35A>G) | dbSNP gnomAD v4 |
2 | g.209776080A>T | CA2662896497 | UNC80 | c.298+35A>T (n.298+35A>T) n.378+35A>T c.-57+35A>T (n.-57+35A>T) | gnomAD v4 |
2 | g.209776083_209776084delinsGC | CA1324702585 | UNC80 | c.298+38_298+39delinsGC (n.298+38_298+39delinsGC) n.378+38_378+39delinsGC c.-57+38_-57+39delinsGC (n.-57+38_-57+39delinsGC) | |
2 | g.209776084C>A | CA2662896499 | UNC80 | c.298+39C>A (n.298+39C>A) n.378+39C>A c.-57+39C>A (n.-57+39C>A) | gnomAD v4 |
2 | g.209776084C>T | CA2662896500 | UNC80 | c.298+39C>T (n.298+39C>T) n.378+39C>T c.-57+39C>T (n.-57+39C>T) | gnomAD v4 |
2 | g.209776086del | CA2082721 | UNC80 | c.298+41del (n.298+41del) n.378+41del c.-57+41del (n.-57+41del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.209776085C= | CA1324702586 | UNC80 | c.298+40C= (n.298+40C=) n.378+40C= c.-57+40C= (n.-57+40C=) | |
2 | g.209776085C>T | CA539101148 | UNC80 | c.298+40C>T (n.298+40C>T) n.378+40C>T c.-57+40C>T (n.-57+40C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.209776089T>C | CA2082722 | UNC80 | c.298+44T>C (n.298+44T>C) n.378+44T>C c.-57+44T>C (n.-57+44T>C) | dbSNP ExAC gnomAD v2 |
2 | g.209776089T= | CA1324702587 | UNC80 | c.298+44T= (n.298+44T=) n.378+44T= c.-57+44T= (n.-57+44T=) | |
2 | g.209776090G>A | CA2662896501 | UNC80 | c.298+45G>A (n.298+45G>A) n.378+45G>A c.-57+45G>A (n.-57+45G>A) | gnomAD v4 |
2 | g.209776090G= | CA1324702588 | UNC80 | c.298+45G= (n.298+45G=) n.378+45G= c.-57+45G= (n.-57+45G=) | |
2 | g.209776090G>T | CA539101150 | UNC80 | c.298+45G>T (n.298+45G>T) n.378+45G>T c.-57+45G>T (n.-57+45G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.209776091T>C | CA539101152 | UNC80 | c.298+46T>C (n.298+46T>C) n.378+46T>C c.-57+46T>C (n.-57+46T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.209776091T= | CA1324702589 | UNC80 | c.298+46T= (n.298+46T=) n.378+46T= c.-57+46T= (n.-57+46T=) | |
2 | g.209776092G>A | CA64645273 | UNC80 | c.298+47G>A (n.298+47G>A) n.378+47G>A c.-57+47G>A (n.-57+47G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.209776092G= | CA1324702590 | UNC80 | c.298+47G= (n.298+47G=) n.378+47G= c.-57+47G= (n.-57+47G=) | |
2 | g.209776092G>T | CA539101154 | UNC80 | c.298+47G>T (n.298+47G>T) n.378+47G>T c.-57+47G>T (n.-57+47G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.209776095C>A | CA2662896502 | UNC80 | c.298+50C>A (n.298+50C>A) n.378+50C>A c.-57+50C>A (n.-57+50C>A) | gnomAD v4 |
2 | g.209776095C= | CA1324702591 | UNC80 | c.298+50C= (n.298+50C=) n.378+50C= c.-57+50C= (n.-57+50C=) | |
2 | g.209776095C>G | CA539101156 | UNC80 | c.298+50C>G (n.298+50C>G) n.378+50C>G c.-57+50C>G (n.-57+50C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.209776098C= | CA1324702592 | UNC80 | c.298+53C= (n.298+53C=) n.378+53C= c.-57+53C= (n.-57+53C=) | |
2 | g.209776098C>T | CA64645278 | UNC80 | c.298+53C>T (n.298+53C>T) n.378+53C>T c.-57+53C>T (n.-57+53C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.209776100C= | CA1324702593 | UNC80 | c.298+55C= (n.298+55C=) n.378+55C= c.-57+55C= (n.-57+55C=) | |
2 | g.209776100C>T | CA1324702594 | UNC80 | c.298+55C>T (n.298+55C>T) n.378+55C>T c.-57+55C>T (n.-57+55C>T) | dbSNP gnomAD v4 |
2 | g.209776102C= | CA1324702595 | UNC80 | c.298+57C= (n.298+57C=) n.378+57C= c.-57+57C= (n.-57+57C=) | |
2 | g.209776102C>T | CA539101158 | UNC80 | c.298+57C>T (n.298+57C>T) n.378+57C>T c.-57+57C>T (n.-57+57C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776103A>T | CA2662896503 | UNC80 | c.298+58A>T (n.298+58A>T) n.378+58A>T c.-57+58A>T (n.-57+58A>T) | gnomAD v4 |
2 | g.209776104T>A | CA2577228190 | UNC80 | c.298+59T>A (n.298+59T>A) n.378+59T>A c.-57+59T>A (n.-57+59T>A) | |
2 | g.209776105C>A | CA2577228191 | UNC80 | c.298+60C>A (n.298+60C>A) n.378+60C>A c.-57+60C>A (n.-57+60C>A) | |
2 | g.209776105C>T | CA2662896504 | UNC80 | c.298+60C>T (n.298+60C>T) n.378+60C>T c.-57+60C>T (n.-57+60C>T) | gnomAD v4 |
2 | g.209776106A= | CA1324702596 | UNC80 | c.298+61A= (n.298+61A=) n.378+61A= c.-57+61A= (n.-57+61A=) | |
2 | g.209776106A>C | CA1041851301 | UNC80 | c.298+61A>C (n.298+61A>C) n.378+61A>C c.-57+61A>C (n.-57+61A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.209776106A>G | CA64645290 | UNC80 | c.298+61A>G (n.298+61A>G) n.378+61A>G c.-57+61A>G (n.-57+61A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776107T>A | CA764096488 | UNC80 | c.298+62T>A (n.298+62T>A) n.378+62T>A c.-57+62T>A (n.-57+62T>A) | dbSNP gnomAD v4 |
2 | g.209776107T>C | CA2577228192 | UNC80 | c.298+62T>C (n.298+62T>C) n.378+62T>C c.-57+62T>C (n.-57+62T>C) | gnomAD v4 |
2 | g.209776107T= | CA1324702597 | UNC80 | c.298+62T= (n.298+62T=) n.378+62T= c.-57+62T= (n.-57+62T=) | |
2 | g.209776108A>G | CA2662896505 | UNC80 | c.298+63A>G (n.298+63A>G) n.378+63A>G c.-57+63A>G (n.-57+63A>G) | gnomAD v4 |
2 | g.209776112A>G | CA2662896506 | UNC80 | c.298+67A>G (n.298+67A>G) n.378+67A>G c.-57+67A>G (n.-57+67A>G) | gnomAD v4 |
2 | g.209776113C>A | CA2662896507 | UNC80 | c.298+68C>A (n.298+68C>A) n.378+68C>A c.-57+68C>A (n.-57+68C>A) | gnomAD v4 |
2 | g.209776113C>T | CA2662896508 | UNC80 | c.298+68C>T (n.298+68C>T) n.378+68C>T c.-57+68C>T (n.-57+68C>T) | gnomAD v4 |
2 | g.209776114C>T | CA2662896509 | UNC80 | c.298+69C>T (n.298+69C>T) n.378+69C>T c.-57+69C>T (n.-57+69C>T) | gnomAD v4 |
2 | g.209776115T>C | CA2662896510 | UNC80 | c.298+70T>C (n.298+70T>C) n.378+70T>C c.-57+70T>C (n.-57+70T>C) | gnomAD v4 |
2 | g.209776115T>G | CA2662896511 | UNC80 | c.298+70T>G (n.298+70T>G) n.378+70T>G c.-57+70T>G (n.-57+70T>G) | gnomAD v4 |
2 | g.209776116G>A | CA539101161 | UNC80 | c.298+71G>A (n.298+71G>A) n.378+71G>A c.-57+71G>A (n.-57+71G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776116G>C | CA2662896512 | UNC80 | c.298+71G>C (n.298+71G>C) n.378+71G>C c.-57+71G>C (n.-57+71G>C) | gnomAD v4 |
2 | g.209776116G= | CA1324702598 | UNC80 | c.298+71G= (n.298+71G=) n.378+71G= c.-57+71G= (n.-57+71G=) | |
2 | g.209776117T>G | CA2662896513 | UNC80 | c.298+72T>G (n.298+72T>G) n.378+72T>G c.-57+72T>G (n.-57+72T>G) | gnomAD v4 |
2 | g.209776118A>G | CA2662896514 | UNC80 | c.298+73A>G (n.298+73A>G) n.378+73A>G c.-57+73A>G (n.-57+73A>G) | gnomAD v4 |
2 | g.209776119C>A | CA2662896515 | UNC80 | c.298+74C>A (n.298+74C>A) n.378+74C>A c.-57+74C>A (n.-57+74C>A) | gnomAD v4 |
2 | g.209776119C= | CA1324702599 | UNC80 | c.298+74C= (n.298+74C=) n.378+74C= c.-57+74C= (n.-57+74C=) | |
2 | g.209776119C>G | CA64645296 | UNC80 | c.298+74C>G (n.298+74C>G) n.378+74C>G c.-57+74C>G (n.-57+74C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776119C>T | CA2577228193 | UNC80 | c.298+74C>T (n.298+74C>T) n.378+74C>T c.-57+74C>T (n.-57+74C>T) | gnomAD v4 |
2 | g.209776121G>A | CA2662896516 | UNC80 | c.298+76G>A (n.298+76G>A) n.378+76G>A c.-57+76G>A (n.-57+76G>A) | gnomAD v4 |
2 | g.209776121G>T | CA2662896517 | UNC80 | c.298+76G>T (n.298+76G>T) n.378+76G>T c.-57+76G>T (n.-57+76G>T) | gnomAD v4 |
2 | g.209776123G>A | CA2577228194 | UNC80 | c.298+78G>A (n.298+78G>A) n.378+78G>A c.-57+78G>A (n.-57+78G>A) | |
2 | g.209776123G>C | CA2662896518 | UNC80 | c.298+78G>C (n.298+78G>C) n.378+78G>C c.-57+78G>C (n.-57+78G>C) | gnomAD v4 |
2 | g.209776125A>C | CA2701605006 | UNC80 | c.298+80A>C (n.298+80A>C) n.378+80A>C c.-57+80A>C (n.-57+80A>C) | dbSNP |
2 | g.209776125A>T | CA647797391 | UNC80 | c.298+80A>T (n.298+80A>T) n.378+80A>T c.-57+80A>T (n.-57+80A>T) | COSMIC |
2 | g.209776126G>T | CA2662896519 | UNC80 | c.298+81G>T (n.298+81G>T) n.378+81G>T c.-57+81G>T (n.-57+81G>T) | gnomAD v4 |
2 | g.209776127T>A | CA2577228195 | UNC80 | c.298+82T>A (n.298+82T>A) n.378+82T>A c.-57+82T>A (n.-57+82T>A) | gnomAD v4 |
2 | g.209776128T>C | CA2662896520 | UNC80 | c.298+83T>C (n.298+83T>C) n.378+83T>C c.-57+83T>C (n.-57+83T>C) | gnomAD v4 |
2 | g.209776129T>A | CA2662896522 | UNC80 | c.298+84T>A (n.298+84T>A) n.378+84T>A c.-57+84T>A (n.-57+84T>A) | gnomAD v4 |
2 | g.209776130_209776131del | CA2662896521 | UNC80 | c.298+85_298+86del (n.298+85_298+86del) n.378+85_378+86del c.-57+85_-57+86del (n.-57+85_-57+86del) | gnomAD v4 |
2 | g.209776132G>A | CA2662896523 | UNC80 | c.298+87G>A (n.298+87G>A) n.378+87G>A c.-57+87G>A (n.-57+87G>A) | gnomAD v4 |
2 | g.209776132G>C | CA2539759451 | UNC80 | c.298+87G>C (n.298+87G>C) n.378+87G>C c.-57+87G>C (n.-57+87G>C) | |
2 | g.209776137C>A | CA2662896524 | UNC80 | c.298+92C>A (n.298+92C>A) n.378+92C>A c.-57+92C>A (n.-57+92C>A) | gnomAD v4 |
2 | g.209776137C>T | CA2662896525 | UNC80 | c.298+92C>T (n.298+92C>T) n.378+92C>T c.-57+92C>T (n.-57+92C>T) | gnomAD v4 |
2 | g.209776139C>A | CA2662896526 | UNC80 | c.298+94C>A (n.298+94C>A) n.378+94C>A c.-57+94C>A (n.-57+94C>A) | gnomAD v4 |
2 | g.209776139C>G | CA2662896528 | UNC80 | c.298+94C>G (n.298+94C>G) n.378+94C>G c.-57+94C>G (n.-57+94C>G) | gnomAD v4 |
2 | g.209776139C>T | CA2662896527 | UNC80 | c.298+94C>T (n.298+94C>T) n.378+94C>T c.-57+94C>T (n.-57+94C>T) | gnomAD v4 |
2 | g.209776142G>A | CA764096497 | UNC80 | c.298+97G>A (n.298+97G>A) n.378+97G>A c.-57+97G>A (n.-57+97G>A) | dbSNP gnomAD v4 |
2 | g.209776142G= | CA1324702600 | UNC80 | c.298+97G= (n.298+97G=) n.378+97G= c.-57+97G= (n.-57+97G=) | |
2 | g.209776142G>T | CA2662896529 | UNC80 | c.298+97G>T (n.298+97G>T) n.378+97G>T c.-57+97G>T (n.-57+97G>T) | gnomAD v4 |
2 | g.209776143C= | CA1324702601 | UNC80 | c.298+98C= (n.298+98C=) n.378+98C= c.-57+98C= (n.-57+98C=) | |
2 | g.209776143C>T | CA64645310 | UNC80 | c.298+98C>T (n.298+98C>T) n.378+98C>T c.-57+98C>T (n.-57+98C>T) | dbSNP gnomAD v4 |
2 | g.209776144A>T | CA2662896530 | UNC80 | c.298+99A>T (n.298+99A>T) n.378+99A>T c.-57+99A>T (n.-57+99A>T) | gnomAD v4 |
2 | g.209776145C= | CA1324702602 | UNC80 | c.298+100C= (n.298+100C=) n.378+100C= c.-57+100C= (n.-57+100C=) | |
2 | g.209776145C>T | CA1324702603 | UNC80 | c.298+100C>T (n.298+100C>T) n.378+100C>T c.-57+100C>T (n.-57+100C>T) | dbSNP |
2 | g.209776147G>A | CA2528367301 | UNC80 | c.298+102G>A (n.298+102G>A) n.378+102G>A c.-57+102G>A (n.-57+102G>A) | gnomAD v4 |
2 | g.209776149G>A | CA539101163 | UNC80 | c.298+104G>A (n.298+104G>A) n.378+104G>A c.-57+104G>A (n.-57+104G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776149G= | CA1324702604 | UNC80 | c.298+104G= (n.298+104G=) n.378+104G= c.-57+104G= (n.-57+104G=) | |
2 | g.209776149G>T | CA2662896531 | UNC80 | c.298+104G>T (n.298+104G>T) n.378+104G>T c.-57+104G>T (n.-57+104G>T) | gnomAD v4 |
2 | g.209776150C>A | CA2662896532 | UNC80 | c.298+105C>A (n.298+105C>A) n.378+105C>A c.-57+105C>A (n.-57+105C>A) | gnomAD v4 |
2 | g.209776151A= | CA1324702605 | UNC80 | c.298+106A= (n.298+106A=) n.378+106A= c.-57+106A= (n.-57+106A=) | |
2 | g.209776151A>C | CA2662896533 | UNC80 | c.298+106A>C (n.298+106A>C) n.378+106A>C c.-57+106A>C (n.-57+106A>C) | gnomAD v4 |
2 | g.209776151A>G | CA539101165 | UNC80 | c.298+106A>G (n.298+106A>G) n.378+106A>G c.-57+106A>G (n.-57+106A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776151A>T | CA64645314 | UNC80 | c.298+106A>T (n.298+106A>T) n.378+106A>T c.-57+106A>T (n.-57+106A>T) | dbSNP gnomAD v4 |
2 | g.209776155_209776156dup | CA2701605008 | UNC80 | c.298+110_298+111dup (n.298+110_298+111dup) n.378+110_378+111dup c.-57+110_-57+111dup (n.-57+110_-57+111dup) | dbSNP |
2 | g.209776155_209776159del | CA2662896534 | UNC80 | c.298+110_298+114del (n.298+110_298+114del) n.378+110_378+114del c.-57+110_-57+114del (n.-57+110_-57+114del) | gnomAD v4 |
2 | g.209776153A= | CA1324702606 | UNC80 | c.298+108A= (n.298+108A=) n.378+108A= c.-57+108A= (n.-57+108A=) | |
2 | g.209776153A>G | CA764096503 | UNC80 | c.298+108A>G (n.298+108A>G) n.378+108A>G c.-57+108A>G (n.-57+108A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.209776154T>C | CA2701605010 | UNC80 | c.298+109T>C (n.298+109T>C) n.378+109T>C c.-57+109T>C (n.-57+109T>C) | dbSNP |
2 | g.209776156T>A | CA2662896535 | UNC80 | c.298+111T>A (n.298+111T>A) n.378+111T>A c.-57+111T>A (n.-57+111T>A) | gnomAD v4 |
2 | g.209776156T>C | CA1324702608 | UNC80 | c.298+111T>C (n.298+111T>C) n.378+111T>C c.-57+111T>C (n.-57+111T>C) | dbSNP gnomAD v4 |
2 | g.209776156T= | CA1324702607 | UNC80 | c.298+111T= (n.298+111T=) n.378+111T= c.-57+111T= (n.-57+111T=) | |
2 | g.209776158A= | CA1324702609 | UNC80 | c.298+113A= (n.298+113A=) n.378+113A= c.-57+113A= (n.-57+113A=) | |
2 | g.209776158A>G | CA64645315 | UNC80 | c.298+113A>G (n.298+113A>G) n.378+113A>G c.-57+113A>G (n.-57+113A>G) | dbSNP gnomAD v4 |
2 | g.209776159T>C | CA1324702611 | UNC80 | c.298+114T>C (n.298+114T>C) n.378+114T>C c.-57+114T>C (n.-57+114T>C) | dbSNP |
2 | g.209776159T= | CA1324702610 | UNC80 | c.298+114T= (n.298+114T=) n.378+114T= c.-57+114T= (n.-57+114T=) | |
2 | g.209776160C>A | CA2662896537 | UNC80 | c.298+115C>A (n.298+115C>A) n.378+115C>A c.-57+115C>A (n.-57+115C>A) | gnomAD v4 |
2 | g.209776160C= | CA1324702612 | UNC80 | c.298+115C= (n.298+115C=) n.378+115C= c.-57+115C= (n.-57+115C=) | |
2 | g.209776160C>G | CA2662896536 | UNC80 | c.298+115C>G (n.298+115C>G) n.378+115C>G c.-57+115C>G (n.-57+115C>G) | gnomAD v4 |
2 | g.209776160C>T | CA64645316 | UNC80 | c.298+115C>T (n.298+115C>T) n.378+115C>T c.-57+115C>T (n.-57+115C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.209776161T>A | CA2662896538 | UNC80 | c.298+116T>A (n.298+116T>A) n.378+116T>A c.-57+116T>A (n.-57+116T>A) | gnomAD v4 |
2 | g.209776161T>G | CA764096510 | UNC80 | c.298+116T>G (n.298+116T>G) n.378+116T>G c.-57+116T>G (n.-57+116T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.209776161T= | CA1324702613 | UNC80 | c.298+116T= (n.298+116T=) n.378+116T= c.-57+116T= (n.-57+116T=) | |
2 | g.209776162C>A | CA2662896539 | UNC80 | c.298+117C>A (n.298+117C>A) n.378+117C>A c.-57+117C>A (n.-57+117C>A) | gnomAD v4 |
2 | g.209776162C>T | CA2662896540 | UNC80 | c.298+117C>T (n.298+117C>T) n.378+117C>T c.-57+117C>T (n.-57+117C>T) | gnomAD v4 |
2 | g.209776163A>C | CA2662896541 | UNC80 | c.298+118A>C (n.298+118A>C) n.378+118A>C c.-57+118A>C (n.-57+118A>C) | gnomAD v4 |
2 | g.209776163A>T | CA2754087549 | UNC80 | c.298+118A>T (n.298+118A>T) n.378+118A>T c.-57+118A>T (n.-57+118A>T) | |
2 | g.209776164T>C | CA2662896542 | UNC80 | c.298+119T>C (n.298+119T>C) n.378+119T>C c.-57+119T>C (n.-57+119T>C) | gnomAD v4 |
2 | g.209776165T>C | CA2662896543 | UNC80 | c.298+120T>C (n.298+120T>C) n.378+120T>C c.-57+120T>C (n.-57+120T>C) | gnomAD v4 |
2 | g.209776168_209776171del | CA2754087550 | UNC80 | c.298+123_298+126del (n.298+123_298+126del) n.378+123_378+126del c.-57+123_-57+126del (n.-57+123_-57+126del) |