Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.120640199_120640201delinsTAA | CA1397093843 | HGD | c.879+1388_879+1390delinsTTA (n.879+1388_879+1390delinsTTA) n.219+1388_219+1390delinsTTA c.307+1388_307+1390delinsTTA c.285+1388_285+1390delinsTTA (n.285+1388_285+1390delinsTTA) c.299+1388_299+1390delinsTTA c.654+1388_654+1390delinsTTA (n.654+1388_654+1390delinsTTA) c.456+1388_456+1390delinsTTA (n.456+1388_456+1390delinsTTA) | |
3 | g.120640200A>T | CA2758138572 | HGD | c.879+1389T>A (n.879+1389T>A) n.219+1389T>A c.307+1389T>A c.285+1389T>A (n.285+1389T>A) c.299+1389T>A c.654+1389T>A (n.654+1389T>A) c.456+1389T>A (n.456+1389T>A) | |
3 | g.120640212dup | CA545608616 | HGD | c.879+1389dup (n.879+1389dup) n.219+1389dup c.307+1389dup c.285+1389dup (n.285+1389dup) c.299+1389dup c.654+1389dup (n.654+1389dup) c.456+1389dup (n.456+1389dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640211_120640212dup | CA1052819985 | HGD | c.879+1388_879+1389dup (n.879+1388_879+1389dup) n.219+1388_219+1389dup c.307+1388_307+1389dup c.285+1388_285+1389dup (n.285+1388_285+1389dup) c.299+1388_299+1389dup c.654+1388_654+1389dup (n.654+1388_654+1389dup) c.456+1388_456+1389dup (n.456+1388_456+1389dup) | gnomAD v3 gnomAD v4 |
3 | g.120640212del | CA81782916 | HGD | c.879+1389del (n.879+1389del) n.219+1389del c.307+1389del c.285+1389del (n.285+1389del) c.299+1389del c.654+1389del (n.654+1389del) c.456+1389del (n.456+1389del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640211_120640212del | CA545608615 | HGD | c.879+1388_879+1389del (n.879+1388_879+1389del) n.219+1388_219+1389del c.307+1388_307+1389del c.285+1388_285+1389del (n.285+1388_285+1389del) c.299+1388_299+1389del c.654+1388_654+1389del (n.654+1388_654+1389del) c.456+1388_456+1389del (n.456+1388_456+1389del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640210_120640212del | CA1052819979 | HGD | c.879+1387_879+1389del (n.879+1387_879+1389del) n.219+1387_219+1389del c.307+1387_307+1389del c.285+1387_285+1389del (n.285+1387_285+1389del) c.299+1387_299+1389del c.654+1387_654+1389del (n.654+1387_654+1389del) c.456+1387_456+1389del (n.456+1387_456+1389del) | gnomAD v3 gnomAD v4 |
3 | g.120640202A= | CA1397093845 | HGD | c.879+1387T= (n.879+1387T=) n.219+1387T= c.307+1387T= c.285+1387T= (n.285+1387T=) c.299+1387T= c.654+1387T= (n.654+1387T=) c.456+1387T= (n.456+1387T=) | |
3 | g.120640202A>G | CA81782923 | HGD | c.879+1387T>C (n.879+1387T>C) n.219+1387T>C c.307+1387T>C c.285+1387T>C (n.285+1387T>C) c.299+1387T>C c.654+1387T>C (n.654+1387T>C) c.456+1387T>C (n.456+1387T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640209A= | CA1397093846 | HGD | c.879+1380T= (n.879+1380T=) n.219+1380T= c.307+1380T= c.285+1380T= (n.285+1380T=) c.299+1380T= c.654+1380T= (n.654+1380T=) c.456+1380T= (n.456+1380T=) | |
3 | g.120640209A>C | CA81782941 | HGD | c.879+1380T>G (n.879+1380T>G) n.219+1380T>G c.307+1380T>G c.285+1380T>G (n.285+1380T>G) c.299+1380T>G c.654+1380T>G (n.654+1380T>G) c.456+1380T>G (n.456+1380T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640209_120640213delinsAAAAG | CA1397093847 | HGD | c.879+1376_879+1380delinsCTTTT (n.879+1376_879+1380delinsCTTTT) n.219+1376_219+1380delinsCTTTT c.307+1376_307+1380delinsCTTTT c.285+1376_285+1380delinsCTTTT (n.285+1376_285+1380delinsCTTTT) c.299+1376_299+1380delinsCTTTT c.654+1376_654+1380delinsCTTTT (n.654+1376_654+1380delinsCTTTT) c.456+1376_456+1380delinsCTTTT (n.456+1376_456+1380delinsCTTTT) | |
3 | g.120640214_120640217del | CA1397093848 | HGD | c.879+1376_879+1379del (n.879+1376_879+1379del) n.219+1376_219+1379del c.307+1376_307+1379del c.285+1376_285+1379del (n.285+1376_285+1379del) c.299+1376_299+1379del c.654+1376_654+1379del (n.654+1376_654+1379del) c.456+1376_456+1379del (n.456+1376_456+1379del) | dbSNP |
3 | g.120640212A>G | CA1052820007 | HGD | c.879+1377T>C (n.879+1377T>C) n.219+1377T>C c.307+1377T>C c.285+1377T>C (n.285+1377T>C) c.299+1377T>C c.654+1377T>C (n.654+1377T>C) c.456+1377T>C (n.456+1377T>C) | gnomAD v3 gnomAD v4 |
3 | g.120640213G>A | CA1052820011 | HGD | c.879+1376C>T (n.879+1376C>T) n.219+1376C>T c.307+1376C>T c.285+1376C>T (n.285+1376C>T) c.299+1376C>T c.654+1376C>T (n.654+1376C>T) c.456+1376C>T (n.456+1376C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640213G= | CA1397093849 | HGD | c.879+1376C= (n.879+1376C=) n.219+1376C= c.307+1376C= c.285+1376C= (n.285+1376C=) c.299+1376C= c.654+1376C= (n.654+1376C=) c.456+1376C= (n.456+1376C=) | |
3 | g.120640216A= | CA1397093850 | HGD | c.879+1373T= (n.879+1373T=) n.219+1373T= c.307+1373T= c.285+1373T= (n.285+1373T=) c.299+1373T= c.654+1373T= (n.654+1373T=) c.456+1373T= (n.456+1373T=) | |
3 | g.120640216A>G | CA1052820017 | HGD | c.879+1373T>C (n.879+1373T>C) n.219+1373T>C c.307+1373T>C c.285+1373T>C (n.285+1373T>C) c.299+1373T>C c.654+1373T>C (n.654+1373T>C) c.456+1373T>C (n.456+1373T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640217G>A | CA897953494 | HGD | c.879+1372C>T (n.879+1372C>T) n.219+1372C>T c.307+1372C>T c.285+1372C>T (n.285+1372C>T) c.299+1372C>T c.654+1372C>T (n.654+1372C>T) c.456+1372C>T (n.456+1372C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640217G= | CA1397093851 | HGD | c.879+1372C= (n.879+1372C=) n.219+1372C= c.307+1372C= c.285+1372C= (n.285+1372C=) c.299+1372C= c.654+1372C= (n.654+1372C=) c.456+1372C= (n.456+1372C=) | |
3 | g.120640218G>A | CA897953496 | HGD | c.879+1371C>T (n.879+1371C>T) n.219+1371C>T c.307+1371C>T c.285+1371C>T (n.285+1371C>T) c.299+1371C>T c.654+1371C>T (n.654+1371C>T) c.456+1371C>T (n.456+1371C>T) | dbSNP |
3 | g.120640218G= | CA1397093852 | HGD | c.879+1371C= (n.879+1371C=) n.219+1371C= c.307+1371C= c.285+1371C= (n.285+1371C=) c.299+1371C= c.654+1371C= (n.654+1371C=) c.456+1371C= (n.456+1371C=) | |
3 | g.120640219A>G | CA1052820027 | HGD | c.879+1370T>C (n.879+1370T>C) n.219+1370T>C c.307+1370T>C c.285+1370T>C (n.285+1370T>C) c.299+1370T>C c.654+1370T>C (n.654+1370T>C) c.456+1370T>C (n.456+1370T>C) | gnomAD v3 gnomAD v4 |
3 | g.120640220A= | CA1397093853 | HGD | c.879+1369T= (n.879+1369T=) n.219+1369T= c.307+1369T= c.285+1369T= (n.285+1369T=) c.299+1369T= c.654+1369T= (n.654+1369T=) c.456+1369T= (n.456+1369T=) | |
3 | g.120640220A>G | CA1052820032 | HGD | c.879+1369T>C (n.879+1369T>C) n.219+1369T>C c.307+1369T>C c.285+1369T>C (n.285+1369T>C) c.299+1369T>C c.654+1369T>C (n.654+1369T>C) c.456+1369T>C (n.456+1369T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640223A>G | CA1052820033 | HGD | c.879+1366T>C (n.879+1366T>C) n.219+1366T>C c.307+1366T>C c.285+1366T>C (n.285+1366T>C) c.299+1366T>C c.654+1366T>C (n.654+1366T>C) c.456+1366T>C (n.456+1366T>C) | gnomAD v3 gnomAD v4 |
3 | g.120640224C>A | CA1052820040 | HGD | c.879+1365G>T (n.879+1365G>T) n.219+1365G>T c.307+1365G>T c.285+1365G>T (n.285+1365G>T) c.299+1365G>T c.654+1365G>T (n.654+1365G>T) c.456+1365G>T (n.456+1365G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640224C= | CA1397093854 | HGD | c.879+1365G= (n.879+1365G=) n.219+1365G= c.307+1365G= c.285+1365G= (n.285+1365G=) c.299+1365G= c.654+1365G= (n.654+1365G=) c.456+1365G= (n.456+1365G=) | |
3 | g.120640224C>G | CA545608617 | HGD | c.879+1365G>C (n.879+1365G>C) n.219+1365G>C c.307+1365G>C c.285+1365G>C (n.285+1365G>C) c.299+1365G>C c.654+1365G>C (n.654+1365G>C) c.456+1365G>C (n.456+1365G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640224C>T | CA81782947 | HGD | c.879+1365G>A (n.879+1365G>A) n.219+1365G>A c.307+1365G>A c.285+1365G>A (n.285+1365G>A) c.299+1365G>A c.654+1365G>A (n.654+1365G>A) c.456+1365G>A (n.456+1365G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640225G>A | CA897953508 | HGD | c.879+1364C>T (n.879+1364C>T) n.219+1364C>T c.307+1364C>T c.285+1364C>T (n.285+1364C>T) c.299+1364C>T c.654+1364C>T (n.654+1364C>T) c.456+1364C>T (n.456+1364C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640225G= | CA1397093855 | HGD | c.879+1364C= (n.879+1364C=) n.219+1364C= c.307+1364C= c.285+1364C= (n.285+1364C=) c.299+1364C= c.654+1364C= (n.654+1364C=) c.456+1364C= (n.456+1364C=) | |
3 | g.120640225_120640226delinsGT | CA1397093856 | HGD | c.879+1363_879+1364delinsAC (n.879+1363_879+1364delinsAC) n.219+1363_219+1364delinsAC c.307+1363_307+1364delinsAC c.285+1363_285+1364delinsAC (n.285+1363_285+1364delinsAC) c.299+1363_299+1364delinsAC c.654+1363_654+1364delinsAC (n.654+1363_654+1364delinsAC) c.456+1363_456+1364delinsAC (n.456+1363_456+1364delinsAC) | |
3 | g.120640226del | CA1397093858 | HGD | c.879+1363del (n.879+1363del) n.219+1363del c.307+1363del c.285+1363del (n.285+1363del) c.299+1363del c.654+1363del (n.654+1363del) c.456+1363del (n.456+1363del) | dbSNP |
3 | g.120640226T>A | CA897953515 | HGD | c.879+1363A>T (n.879+1363A>T) n.219+1363A>T c.307+1363A>T c.285+1363A>T (n.285+1363A>T) c.299+1363A>T c.654+1363A>T (n.654+1363A>T) c.456+1363A>T (n.456+1363A>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640226T>G | CA545608618 | HGD | c.879+1363A>C (n.879+1363A>C) n.219+1363A>C c.307+1363A>C c.285+1363A>C (n.285+1363A>C) c.299+1363A>C c.654+1363A>C (n.654+1363A>C) c.456+1363A>C (n.456+1363A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.120640226T= | CA1397093857 | HGD | c.879+1363A= (n.879+1363A=) n.219+1363A= c.307+1363A= c.285+1363A= (n.285+1363A=) c.299+1363A= c.654+1363A= (n.654+1363A=) c.456+1363A= (n.456+1363A=) | |
3 | g.120640227G>A | CA1397093860 | HGD | c.879+1362C>T (n.879+1362C>T) n.219+1362C>T c.307+1362C>T c.285+1362C>T (n.285+1362C>T) c.299+1362C>T c.654+1362C>T (n.654+1362C>T) c.456+1362C>T (n.456+1362C>T) | dbSNP |
3 | g.120640227G= | CA1397093859 | HGD | c.879+1362C= (n.879+1362C=) n.219+1362C= c.307+1362C= c.285+1362C= (n.285+1362C=) c.299+1362C= c.654+1362C= (n.654+1362C=) c.456+1362C= (n.456+1362C=) | |
3 | g.120640227G>T | CA81782960 | HGD | c.879+1362C>A (n.879+1362C>A) n.219+1362C>A c.307+1362C>A c.285+1362C>A (n.285+1362C>A) c.299+1362C>A c.654+1362C>A (n.654+1362C>A) c.456+1362C>A (n.456+1362C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640229C>A | CA1052820066 | HGD | c.879+1360G>T (n.879+1360G>T) n.219+1360G>T c.307+1360G>T c.285+1360G>T (n.285+1360G>T) c.299+1360G>T c.654+1360G>T (n.654+1360G>T) c.456+1360G>T (n.456+1360G>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640229C= | CA1397093861 | HGD | c.879+1360G= (n.879+1360G=) n.219+1360G= c.307+1360G= c.285+1360G= (n.285+1360G=) c.299+1360G= c.654+1360G= (n.654+1360G=) c.456+1360G= (n.456+1360G=) | |
3 | g.120640229C>G | CA545608619 | HGD | c.879+1360G>C (n.879+1360G>C) n.219+1360G>C c.307+1360G>C c.285+1360G>C (n.285+1360G>C) c.299+1360G>C c.654+1360G>C (n.654+1360G>C) c.456+1360G>C (n.456+1360G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640229C>T | CA1052820067 | HGD | c.879+1360G>A (n.879+1360G>A) n.219+1360G>A c.307+1360G>A c.285+1360G>A (n.285+1360G>A) c.299+1360G>A c.654+1360G>A (n.654+1360G>A) c.456+1360G>A (n.456+1360G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640230G>A | CA545608620 | HGD | c.879+1359C>T (n.879+1359C>T) n.219+1359C>T c.307+1359C>T c.285+1359C>T (n.285+1359C>T) c.299+1359C>T c.654+1359C>T (n.654+1359C>T) c.456+1359C>T (n.456+1359C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640230G= | CA1397093862 | HGD | c.879+1359C= (n.879+1359C=) n.219+1359C= c.307+1359C= c.285+1359C= (n.285+1359C=) c.299+1359C= c.654+1359C= (n.654+1359C=) c.456+1359C= (n.456+1359C=) | |
3 | g.120640233_120640234insGGGGGGGG | CA916992889 | HGD | c.879+1359_879+1360insCCCCCCCC (n.879+1359_879+1360insCCCCCCCC) n.219+1359_219+1360insCCCCCCCC c.307+1359_307+1360insCCCCCCCC c.285+1359_285+1360insCCCCCCCC (n.285+1359_285+1360insCCCCCCCC) c.299+1359_299+1360insCCCCCCCC c.654+1359_654+1360insCCCCCCCC (n.654+1359_654+1360insCCCCCCCC) c.456+1359_456+1360insCCCCCCCC (n.456+1359_456+1360insCCCCCCCC) | dbSNP |
3 | g.120640233dup | CA435227533 | HGD | c.879+1359dup (n.879+1359dup) n.219+1359dup c.307+1359dup c.285+1359dup (n.285+1359dup) c.299+1359dup c.654+1359dup (n.654+1359dup) c.456+1359dup (n.456+1359dup) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640233G= | CA1397093863 | HGD | c.879+1356C= (n.879+1356C=) n.219+1356C= c.307+1356C= c.285+1356C= (n.285+1356C=) c.299+1356C= c.654+1356C= (n.654+1356C=) c.456+1356C= (n.456+1356C=) | |
3 | g.120640233G>T | CA1397093864 | HGD | c.879+1356C>A (n.879+1356C>A) n.219+1356C>A c.307+1356C>A c.285+1356C>A (n.285+1356C>A) c.299+1356C>A c.654+1356C>A (n.654+1356C>A) c.456+1356C>A (n.456+1356C>A) | dbSNP |
3 | g.120640234A= | CA1397093866 | HGD | c.879+1355T= (n.879+1355T=) n.219+1355T= c.307+1355T= c.285+1355T= (n.285+1355T=) c.299+1355T= c.654+1355T= (n.654+1355T=) c.456+1355T= (n.456+1355T=) | |
3 | g.120640234A>C | CA2528846145 | HGD | c.879+1355T>G (n.879+1355T>G) n.219+1355T>G c.307+1355T>G c.285+1355T>G (n.285+1355T>G) c.299+1355T>G c.654+1355T>G (n.654+1355T>G) c.456+1355T>G (n.456+1355T>G) | |
3 | g.120640234A>G | CA81782966 | HGD | c.879+1355T>C (n.879+1355T>C) n.219+1355T>C c.307+1355T>C c.285+1355T>C (n.285+1355T>C) c.299+1355T>C c.654+1355T>C (n.654+1355T>C) c.456+1355T>C (n.456+1355T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640234A>T | CA81782976 | HGD | c.879+1355T>A (n.879+1355T>A) n.219+1355T>A c.307+1355T>A c.285+1355T>A (n.285+1355T>A) c.299+1355T>A c.654+1355T>A (n.654+1355T>A) c.456+1355T>A (n.456+1355T>A) | dbSNP |
3 | g.120640234_120640235del | CA2603712969 | HGD | c.879+1354_879+1355del (n.879+1354_879+1355del) n.219+1354_219+1355del c.307+1354_307+1355del c.285+1354_285+1355del (n.285+1354_285+1355del) c.299+1354_299+1355del c.654+1354_654+1355del (n.654+1354_654+1355del) c.456+1354_456+1355del (n.456+1354_456+1355del) | gnomAD v3 gnomAD v4 |
3 | g.120640234_120640235delinsAT | CA1397093865 | HGD | c.879+1354_879+1355delinsAT (n.879+1354_879+1355delinsAT) n.219+1354_219+1355delinsAT c.307+1354_307+1355delinsAT c.285+1354_285+1355delinsAT (n.285+1354_285+1355delinsAT) c.299+1354_299+1355delinsAT c.654+1354_654+1355delinsAT (n.654+1354_654+1355delinsAT) c.456+1354_456+1355delinsAT (n.456+1354_456+1355delinsAT) | |
3 | g.120640235del | CA897953533 | HGD | c.879+1354del (n.879+1354del) n.219+1354del c.307+1354del c.285+1354del (n.285+1354del) c.299+1354del c.654+1354del (n.654+1354del) c.456+1354del (n.456+1354del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640235T>A | CA897953535 | HGD | c.879+1354A>T (n.879+1354A>T) n.219+1354A>T c.307+1354A>T c.285+1354A>T (n.285+1354A>T) c.299+1354A>T c.654+1354A>T (n.654+1354A>T) c.456+1354A>T (n.456+1354A>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640235T>G | CA81782977 | HGD | c.879+1354A>C (n.879+1354A>C) n.219+1354A>C c.307+1354A>C c.285+1354A>C (n.285+1354A>C) c.299+1354A>C c.654+1354A>C (n.654+1354A>C) c.456+1354A>C (n.456+1354A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.120640235T= | CA1397093867 | HGD | c.879+1354A= (n.879+1354A=) n.219+1354A= c.307+1354A= c.285+1354A= (n.285+1354A=) c.299+1354A= c.654+1354A= (n.654+1354A=) c.456+1354A= (n.456+1354A=) | |
3 | g.120640235_120640236delinsTG | CA1397093868 | HGD | c.879+1353_879+1354delinsCA (n.879+1353_879+1354delinsCA) n.219+1353_219+1354delinsCA c.307+1353_307+1354delinsCA c.285+1353_285+1354delinsCA (n.285+1353_285+1354delinsCA) c.299+1353_299+1354delinsCA c.654+1353_654+1354delinsCA (n.654+1353_654+1354delinsCA) c.456+1353_456+1354delinsCA (n.456+1353_456+1354delinsCA) | |
3 | g.120640236G>A | CA1052820077 | HGD | c.879+1353C>T (n.879+1353C>T) n.219+1353C>T c.307+1353C>T c.285+1353C>T (n.285+1353C>T) c.299+1353C>T c.654+1353C>T (n.654+1353C>T) c.456+1353C>T (n.456+1353C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640236G= | CA1397093869 | HGD | c.879+1353C= (n.879+1353C=) n.219+1353C= c.307+1353C= c.285+1353C= (n.285+1353C=) c.299+1353C= c.654+1353C= (n.654+1353C=) c.456+1353C= (n.456+1353C=) | |
3 | g.120640238_120640240dup | CA2607840260 | HGD | c.879+1351_879+1353dup (n.879+1351_879+1353dup) n.219+1351_219+1353dup c.307+1351_307+1353dup c.285+1351_285+1353dup (n.285+1351_285+1353dup) c.299+1351_299+1353dup c.654+1351_654+1353dup (n.654+1351_654+1353dup) c.456+1351_456+1353dup (n.456+1351_456+1353dup) | gnomAD v4 |
3 | g.120640240del | CA897953541 | HGD | c.879+1353del (n.879+1353del) n.219+1353del c.307+1353del c.285+1353del (n.285+1353del) c.299+1353del c.654+1353del (n.654+1353del) c.456+1353del (n.456+1353del) | dbSNP |
3 | g.120640237G>A | CA81782978 | HGD | c.879+1352C>T (n.879+1352C>T) n.219+1352C>T c.307+1352C>T c.285+1352C>T (n.285+1352C>T) c.299+1352C>T c.654+1352C>T (n.654+1352C>T) c.456+1352C>T (n.456+1352C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640237G= | CA1397093870 | HGD | c.879+1352C= (n.879+1352C=) n.219+1352C= c.307+1352C= c.285+1352C= (n.285+1352C=) c.299+1352C= c.654+1352C= (n.654+1352C=) c.456+1352C= (n.456+1352C=) | |
3 | g.120640238G>C | CA2758138574 | HGD | c.879+1351C>G (n.879+1351C>G) n.219+1351C>G c.307+1351C>G c.285+1351C>G (n.285+1351C>G) c.299+1351C>G c.654+1351C>G (n.654+1351C>G) c.456+1351C>G (n.456+1351C>G) | |
3 | g.120640240G>A | CA1052820081 | HGD | c.879+1349C>T (n.879+1349C>T) n.219+1349C>T c.307+1349C>T c.285+1349C>T (n.285+1349C>T) c.299+1349C>T c.654+1349C>T (n.654+1349C>T) c.456+1349C>T (n.456+1349C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640240G= | CA1397093871 | HGD | c.879+1349C= (n.879+1349C=) n.219+1349C= c.307+1349C= c.285+1349C= (n.285+1349C=) c.299+1349C= c.654+1349C= (n.654+1349C=) c.456+1349C= (n.456+1349C=) | |
3 | g.120640241A= | CA1397093872 | HGD | c.879+1348T= (n.879+1348T=) n.219+1348T= c.307+1348T= c.285+1348T= (n.285+1348T=) c.299+1348T= c.654+1348T= (n.654+1348T=) c.456+1348T= (n.456+1348T=) | |
3 | g.120640241A>G | CA81782979 | HGD | c.879+1348T>C (n.879+1348T>C) n.219+1348T>C c.307+1348T>C c.285+1348T>C (n.285+1348T>C) c.299+1348T>C c.654+1348T>C (n.654+1348T>C) c.456+1348T>C (n.456+1348T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640243A= | CA1397093873 | HGD | c.879+1346T= (n.879+1346T=) n.219+1346T= c.307+1346T= c.285+1346T= (n.285+1346T=) c.299+1346T= c.654+1346T= (n.654+1346T=) c.456+1346T= (n.456+1346T=) | |
3 | g.120640243A>G | CA1397093874 | HGD | c.879+1346T>C (n.879+1346T>C) n.219+1346T>C c.307+1346T>C c.285+1346T>C (n.285+1346T>C) c.299+1346T>C c.654+1346T>C (n.654+1346T>C) c.456+1346T>C (n.456+1346T>C) | dbSNP |
3 | g.120640244_120640252delinsAAGGGAGGG | CA1397093875 | HGD | c.879+1337_879+1345delinsCCCTCCCTT (n.879+1337_879+1345delinsCCCTCCCTT) n.219+1337_219+1345delinsCCCTCCCTT c.307+1337_307+1345delinsCCCTCCCTT c.285+1337_285+1345delinsCCCTCCCTT (n.285+1337_285+1345delinsCCCTCCCTT) c.299+1337_299+1345delinsCCCTCCCTT c.654+1337_654+1345delinsCCCTCCCTT (n.654+1337_654+1345delinsCCCTCCCTT) c.456+1337_456+1345delinsCCCTCCCTT (n.456+1337_456+1345delinsCCCTCCCTT) | |
3 | g.120640245A= | CA1397093877 | HGD | c.879+1344T= (n.879+1344T=) n.219+1344T= c.307+1344T= c.285+1344T= (n.285+1344T=) c.299+1344T= c.654+1344T= (n.654+1344T=) c.456+1344T= (n.456+1344T=) | |
3 | g.120640245A>G | CA1052820094 | HGD | c.879+1344T>C (n.879+1344T>C) n.219+1344T>C c.307+1344T>C c.285+1344T>C (n.285+1344T>C) c.299+1344T>C c.654+1344T>C (n.654+1344T>C) c.456+1344T>C (n.456+1344T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640264_120640267dup | CA545608622 | HGD | c.879+1341_879+1344dup (n.879+1341_879+1344dup) n.219+1341_219+1344dup c.307+1341_307+1344dup c.285+1341_285+1344dup (n.285+1341_285+1344dup) c.299+1341_299+1344dup c.654+1341_654+1344dup (n.654+1341_654+1344dup) c.456+1341_456+1344dup (n.456+1341_456+1344dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640260_120640267dup | CA1397093878 | HGD | c.879+1337_879+1344dup (n.879+1337_879+1344dup) n.219+1337_219+1344dup c.307+1337_307+1344dup c.285+1337_285+1344dup (n.285+1337_285+1344dup) c.299+1337_299+1344dup c.654+1337_654+1344dup (n.654+1337_654+1344dup) c.456+1337_456+1344dup (n.456+1337_456+1344dup) | dbSNP |
3 | g.120640252_120640267dup | CA1397093876 | HGD | c.879+1329_879+1344dup (n.879+1329_879+1344dup) n.219+1329_219+1344dup c.307+1329_307+1344dup c.285+1329_285+1344dup (n.285+1329_285+1344dup) c.299+1329_299+1344dup c.654+1329_654+1344dup (n.654+1329_654+1344dup) c.456+1329_456+1344dup (n.456+1329_456+1344dup) | dbSNP |
3 | g.120640264_120640267del | CA545608621 | HGD | c.879+1341_879+1344del (n.879+1341_879+1344del) n.219+1341_219+1344del c.307+1341_307+1344del c.285+1341_285+1344del (n.285+1341_285+1344del) c.299+1341_299+1344del c.654+1341_654+1344del (n.654+1341_654+1344del) c.456+1341_456+1344del (n.456+1341_456+1344del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640260_120640267del | CA897953554 | HGD | c.879+1337_879+1344del (n.879+1337_879+1344del) n.219+1337_219+1344del c.307+1337_307+1344del c.285+1337_285+1344del (n.285+1337_285+1344del) c.299+1337_299+1344del c.654+1337_654+1344del (n.654+1337_654+1344del) c.456+1337_456+1344del (n.456+1337_456+1344del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640256_120640267del | CA1052820087 | HGD | c.879+1333_879+1344del (n.879+1333_879+1344del) n.219+1333_219+1344del c.307+1333_307+1344del c.285+1333_285+1344del (n.285+1333_285+1344del) c.299+1333_299+1344del c.654+1333_654+1344del (n.654+1333_654+1344del) c.456+1333_456+1344del (n.456+1333_456+1344del) | gnomAD v3 gnomAD v4 |
3 | g.120640246G>A | CA545608623 | HGD | c.879+1343C>T (n.879+1343C>T) n.219+1343C>T c.307+1343C>T c.285+1343C>T (n.285+1343C>T) c.299+1343C>T c.654+1343C>T (n.654+1343C>T) c.456+1343C>T (n.456+1343C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640246G>C | CA897953564 | HGD | c.879+1343C>G (n.879+1343C>G) n.219+1343C>G c.307+1343C>G c.285+1343C>G (n.285+1343C>G) c.299+1343C>G c.654+1343C>G (n.654+1343C>G) c.456+1343C>G (n.456+1343C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640246G= | CA1397093879 | HGD | c.879+1343C= (n.879+1343C=) n.219+1343C= c.307+1343C= c.285+1343C= (n.285+1343C=) c.299+1343C= c.654+1343C= (n.654+1343C=) c.456+1343C= (n.456+1343C=) | |
3 | g.120640248dup | CA897953562 | HGD | c.879+1343dup (n.879+1343dup) n.219+1343dup c.307+1343dup c.285+1343dup (n.285+1343dup) c.299+1343dup c.654+1343dup (n.654+1343dup) c.456+1343dup (n.456+1343dup) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640247G= | CA1397093881 | HGD | c.879+1342C= (n.879+1342C=) n.219+1342C= c.307+1342C= c.285+1342C= (n.285+1342C=) c.299+1342C= c.654+1342C= (n.654+1342C=) c.456+1342C= (n.456+1342C=) | |
3 | g.120640247G>T | CA1397093880 | HGD | c.879+1342C>A (n.879+1342C>A) n.219+1342C>A c.307+1342C>A c.285+1342C>A (n.285+1342C>A) c.299+1342C>A c.654+1342C>A (n.654+1342C>A) c.456+1342C>A (n.456+1342C>A) | dbSNP |
3 | g.120640248G>A | CA1052820104 | HGD | c.879+1341C>T (n.879+1341C>T) n.219+1341C>T c.307+1341C>T c.285+1341C>T (n.285+1341C>T) c.299+1341C>T c.654+1341C>T (n.654+1341C>T) c.456+1341C>T (n.456+1341C>T) | gnomAD v3 gnomAD v4 |
3 | g.120640249A= | CA1397093882 | HGD | c.879+1340T= (n.879+1340T=) n.219+1340T= c.307+1340T= c.285+1340T= (n.285+1340T=) c.299+1340T= c.654+1340T= (n.654+1340T=) c.456+1340T= (n.456+1340T=) | |
3 | g.120640249A>C | CA1397093883 | HGD | c.879+1340T>G (n.879+1340T>G) n.219+1340T>G c.307+1340T>G c.285+1340T>G (n.285+1340T>G) c.299+1340T>G c.654+1340T>G (n.654+1340T>G) c.456+1340T>G (n.456+1340T>G) | dbSNP |
3 | g.120640249A>G | CA81782980 | HGD | c.879+1340T>C (n.879+1340T>C) n.219+1340T>C c.307+1340T>C c.285+1340T>C (n.285+1340T>C) c.299+1340T>C c.654+1340T>C (n.654+1340T>C) c.456+1340T>C (n.456+1340T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640253A= | CA1397093884 | HGD | c.879+1336T= (n.879+1336T=) n.219+1336T= c.307+1336T= c.285+1336T= (n.285+1336T=) c.299+1336T= c.654+1336T= (n.654+1336T=) c.456+1336T= (n.456+1336T=) | |
3 | g.120640253A>C | CA2603712970 | HGD | c.879+1336T>G (n.879+1336T>G) n.219+1336T>G c.307+1336T>G c.285+1336T>G (n.285+1336T>G) c.299+1336T>G c.654+1336T>G (n.654+1336T>G) c.456+1336T>G (n.456+1336T>G) | gnomAD v3 gnomAD v4 |
3 | g.120640253A>G | CA81782985 | HGD | c.879+1336T>C (n.879+1336T>C) n.219+1336T>C c.307+1336T>C c.285+1336T>C (n.285+1336T>C) c.299+1336T>C c.654+1336T>C (n.654+1336T>C) c.456+1336T>C (n.456+1336T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640254G>T | CA1052820106 | HGD | c.879+1335C>A (n.879+1335C>A) n.219+1335C>A c.307+1335C>A c.285+1335C>A (n.285+1335C>A) c.299+1335C>A c.654+1335C>A (n.654+1335C>A) c.456+1335C>A (n.456+1335C>A) | gnomAD v3 gnomAD v4 |
3 | g.120640256dup | CA81782991 | HGD | c.879+1335dup (n.879+1335dup) n.219+1335dup c.307+1335dup c.285+1335dup (n.285+1335dup) c.299+1335dup c.654+1335dup (n.654+1335dup) c.456+1335dup (n.456+1335dup) | dbSNP |
3 | g.120640255G>A | CA1397093886 | HGD | c.879+1334C>T (n.879+1334C>T) n.219+1334C>T c.307+1334C>T c.285+1334C>T (n.285+1334C>T) c.299+1334C>T c.654+1334C>T (n.654+1334C>T) c.456+1334C>T (n.456+1334C>T) | dbSNP |
3 | g.120640255G= | CA1397093885 | HGD | c.879+1334C= (n.879+1334C=) n.219+1334C= c.307+1334C= c.285+1334C= (n.285+1334C=) c.299+1334C= c.654+1334C= (n.654+1334C=) c.456+1334C= (n.456+1334C=) | |
3 | g.120640255G>T | CA1052820107 | HGD | c.879+1334C>A (n.879+1334C>A) n.219+1334C>A c.307+1334C>A c.285+1334C>A (n.285+1334C>A) c.299+1334C>A c.654+1334C>A (n.654+1334C>A) c.456+1334C>A (n.456+1334C>A) | gnomAD v3 gnomAD v4 |
3 | g.120640256G>A | CA81782995 | HGD | c.879+1333C>T (n.879+1333C>T) n.219+1333C>T c.307+1333C>T c.285+1333C>T (n.285+1333C>T) c.299+1333C>T c.654+1333C>T (n.654+1333C>T) c.456+1333C>T (n.456+1333C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640256G= | CA1397093887 | HGD | c.879+1333C= (n.879+1333C=) n.219+1333C= c.307+1333C= c.285+1333C= (n.285+1333C=) c.299+1333C= c.654+1333C= (n.654+1333C=) c.456+1333C= (n.456+1333C=) | |
3 | g.120640257A= | CA1397093888 | HGD | c.879+1332T= (n.879+1332T=) n.219+1332T= c.307+1332T= c.285+1332T= (n.285+1332T=) c.299+1332T= c.654+1332T= (n.654+1332T=) c.456+1332T= (n.456+1332T=) | |
3 | g.120640257A>C | CA2603712971 | HGD | c.879+1332T>G (n.879+1332T>G) n.219+1332T>G c.307+1332T>G c.285+1332T>G (n.285+1332T>G) c.299+1332T>G c.654+1332T>G (n.654+1332T>G) c.456+1332T>G (n.456+1332T>G) | gnomAD v3 gnomAD v4 |
3 | g.120640257A>G | CA81783000 | HGD | c.879+1332T>C (n.879+1332T>C) n.219+1332T>C c.307+1332T>C c.285+1332T>C (n.285+1332T>C) c.299+1332T>C c.654+1332T>C (n.654+1332T>C) c.456+1332T>C (n.456+1332T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640258G>A | CA1397093890 | HGD | c.879+1331C>T (n.879+1331C>T) n.219+1331C>T c.307+1331C>T c.285+1331C>T (n.285+1331C>T) c.299+1331C>T c.654+1331C>T (n.654+1331C>T) c.456+1331C>T (n.456+1331C>T) | dbSNP |
3 | g.120640258G= | CA1397093889 | HGD | c.879+1331C= (n.879+1331C=) n.219+1331C= c.307+1331C= c.285+1331C= (n.285+1331C=) c.299+1331C= c.654+1331C= (n.654+1331C=) c.456+1331C= (n.456+1331C=) | |
3 | g.120640260del | CA2541463265 | HGD | c.879+1331del (n.879+1331del) n.219+1331del c.307+1331del c.285+1331del (n.285+1331del) c.299+1331del c.654+1331del (n.654+1331del) c.456+1331del (n.456+1331del) | |
3 | g.120640259G>T | CA2548197306 | HGD | c.879+1330C>A (n.879+1330C>A) n.219+1330C>A c.307+1330C>A c.285+1330C>A (n.285+1330C>A) c.299+1330C>A c.654+1330C>A (n.654+1330C>A) c.456+1330C>A (n.456+1330C>A) | |
3 | g.120640260G>A | CA1397093892 | HGD | c.879+1329C>T (n.879+1329C>T) n.219+1329C>T c.307+1329C>T c.285+1329C>T (n.285+1329C>T) c.299+1329C>T c.654+1329C>T (n.654+1329C>T) c.456+1329C>T (n.456+1329C>T) | dbSNP |
3 | g.120640260G>C | CA545608624 | HGD | c.879+1329C>G (n.879+1329C>G) n.219+1329C>G c.307+1329C>G c.285+1329C>G (n.285+1329C>G) c.299+1329C>G c.654+1329C>G (n.654+1329C>G) c.456+1329C>G (n.456+1329C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640260G= | CA1397093891 | HGD | c.879+1329C= (n.879+1329C=) n.219+1329C= c.307+1329C= c.285+1329C= (n.285+1329C=) c.299+1329C= c.654+1329C= (n.654+1329C=) c.456+1329C= (n.456+1329C=) | |
3 | g.120640261A= | CA1397093893 | HGD | c.879+1328T= (n.879+1328T=) n.219+1328T= c.307+1328T= c.285+1328T= (n.285+1328T=) c.299+1328T= c.654+1328T= (n.654+1328T=) c.456+1328T= (n.456+1328T=) | |
3 | g.120640261A>C | CA2603712972 | HGD | c.879+1328T>G (n.879+1328T>G) n.219+1328T>G c.307+1328T>G c.285+1328T>G (n.285+1328T>G) c.299+1328T>G c.654+1328T>G (n.654+1328T>G) c.456+1328T>G (n.456+1328T>G) | gnomAD v3 gnomAD v4 |
3 | g.120640261A>G | CA81783002 | HGD | c.879+1328T>C (n.879+1328T>C) n.219+1328T>C c.307+1328T>C c.285+1328T>C (n.285+1328T>C) c.299+1328T>C c.654+1328T>C (n.654+1328T>C) c.456+1328T>C (n.456+1328T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640262G>A | CA897953585 | HGD | c.879+1327C>T (n.879+1327C>T) n.219+1327C>T c.307+1327C>T c.285+1327C>T (n.285+1327C>T) c.299+1327C>T c.654+1327C>T (n.654+1327C>T) c.456+1327C>T (n.456+1327C>T) | dbSNP |
3 | g.120640262G= | CA1397093894 | HGD | c.879+1327C= (n.879+1327C=) n.219+1327C= c.307+1327C= c.285+1327C= (n.285+1327C=) c.299+1327C= c.654+1327C= (n.654+1327C=) c.456+1327C= (n.456+1327C=) | |
3 | g.120640264G>A | CA1052820122 | HGD | c.879+1325C>T (n.879+1325C>T) n.219+1325C>T c.307+1325C>T c.285+1325C>T (n.285+1325C>T) c.299+1325C>T c.654+1325C>T (n.654+1325C>T) c.456+1325C>T (n.456+1325C>T) | gnomAD v3 gnomAD v4 |
3 | g.120640264G>C | CA1397093896 | HGD | c.879+1325C>G (n.879+1325C>G) n.219+1325C>G c.307+1325C>G c.285+1325C>G (n.285+1325C>G) c.299+1325C>G c.654+1325C>G (n.654+1325C>G) c.456+1325C>G (n.456+1325C>G) | dbSNP |
3 | g.120640264G= | CA1397093895 | HGD | c.879+1325C= (n.879+1325C=) n.219+1325C= c.307+1325C= c.285+1325C= (n.285+1325C=) c.299+1325C= c.654+1325C= (n.654+1325C=) c.456+1325C= (n.456+1325C=) | |
3 | g.120640265A= | CA1397093897 | HGD | c.879+1324T= (n.879+1324T=) n.219+1324T= c.307+1324T= c.285+1324T= (n.285+1324T=) c.299+1324T= c.654+1324T= (n.654+1324T=) c.456+1324T= (n.456+1324T=) | |
3 | g.120640265A>C | CA2603712973 | HGD | c.879+1324T>G (n.879+1324T>G) n.219+1324T>G c.307+1324T>G c.285+1324T>G (n.285+1324T>G) c.299+1324T>G c.654+1324T>G (n.654+1324T>G) c.456+1324T>G (n.456+1324T>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640265A>G | CA81783004 | HGD | c.879+1324T>C (n.879+1324T>C) n.219+1324T>C c.307+1324T>C c.285+1324T>C (n.285+1324T>C) c.299+1324T>C c.654+1324T>C (n.654+1324T>C) c.456+1324T>C (n.456+1324T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640265_120640266delinsAG | CA1397093898 | HGD | c.879+1323_879+1324delinsCT (n.879+1323_879+1324delinsCT) n.219+1323_219+1324delinsCT c.307+1323_307+1324delinsCT c.285+1323_285+1324delinsCT (n.285+1323_285+1324delinsCT) c.299+1323_299+1324delinsCT c.654+1323_654+1324delinsCT (n.654+1323_654+1324delinsCT) c.456+1323_456+1324delinsCT (n.456+1323_456+1324delinsCT) | |
3 | g.120640266G>A | CA1397093901 | HGD | c.879+1323C>T (n.879+1323C>T) n.219+1323C>T c.307+1323C>T c.285+1323C>T (n.285+1323C>T) c.299+1323C>T c.654+1323C>T (n.654+1323C>T) c.456+1323C>T (n.456+1323C>T) | dbSNP |
3 | g.120640266G= | CA1397093900 | HGD | c.879+1323C= (n.879+1323C=) n.219+1323C= c.307+1323C= c.285+1323C= (n.285+1323C=) c.299+1323C= c.654+1323C= (n.654+1323C=) c.456+1323C= (n.456+1323C=) | |
3 | g.120640267del | CA1397093899 | HGD | c.879+1323del (n.879+1323del) n.219+1323del c.307+1323del c.285+1323del (n.285+1323del) c.299+1323del c.654+1323del (n.654+1323del) c.456+1323del (n.456+1323del) | dbSNP |
3 | g.120640267G= | CA1397093902 | HGD | c.879+1322C= (n.879+1322C=) n.219+1322C= c.307+1322C= c.285+1322C= (n.285+1322C=) c.299+1322C= c.654+1322C= (n.654+1322C=) c.456+1322C= (n.456+1322C=) | |
3 | g.120640267G>T | CA1397093903 | HGD | c.879+1322C>A (n.879+1322C>A) n.219+1322C>A c.307+1322C>A c.285+1322C>A (n.285+1322C>A) c.299+1322C>A c.654+1322C>A (n.654+1322C>A) c.456+1322C>A (n.456+1322C>A) | dbSNP |
3 | g.120640268A>C | CA2758138576 | HGD | c.879+1321T>G (n.879+1321T>G) n.219+1321T>G c.307+1321T>G c.285+1321T>G (n.285+1321T>G) c.299+1321T>G c.654+1321T>G (n.654+1321T>G) c.456+1321T>G (n.456+1321T>G) | |
3 | g.120640269C>A | CA1052820124 | HGD | c.879+1320G>T (n.879+1320G>T) n.219+1320G>T c.307+1320G>T c.285+1320G>T (n.285+1320G>T) c.299+1320G>T c.654+1320G>T (n.654+1320G>T) c.456+1320G>T (n.456+1320G>T) | gnomAD v3 gnomAD v4 |
3 | g.120640269C>G | CA1052820125 | HGD | c.879+1320G>C (n.879+1320G>C) n.219+1320G>C c.307+1320G>C c.285+1320G>C (n.285+1320G>C) c.299+1320G>C c.654+1320G>C (n.654+1320G>C) c.456+1320G>C (n.456+1320G>C) | gnomAD v3 gnomAD v4 |
3 | g.120640270T>A | CA1052820126 | HGD | c.879+1319A>T (n.879+1319A>T) n.219+1319A>T c.307+1319A>T c.285+1319A>T (n.285+1319A>T) c.299+1319A>T c.654+1319A>T (n.654+1319A>T) c.456+1319A>T (n.456+1319A>T) | gnomAD v3 gnomAD v4 |
3 | g.120640270T>G | CA1052820127 | HGD | c.879+1319A>C (n.879+1319A>C) n.219+1319A>C c.307+1319A>C c.285+1319A>C (n.285+1319A>C) c.299+1319A>C c.654+1319A>C (n.654+1319A>C) c.456+1319A>C (n.456+1319A>C) | gnomAD v3 gnomAD v4 |
3 | g.120640271A= | CA1397093904 | HGD | c.879+1318T= (n.879+1318T=) n.219+1318T= c.307+1318T= c.285+1318T= (n.285+1318T=) c.299+1318T= c.654+1318T= (n.654+1318T=) c.456+1318T= (n.456+1318T=) | |
3 | g.120640271A>C | CA2758138577 | HGD | c.879+1318T>G (n.879+1318T>G) n.219+1318T>G c.307+1318T>G c.285+1318T>G (n.285+1318T>G) c.299+1318T>G c.654+1318T>G (n.654+1318T>G) c.456+1318T>G (n.456+1318T>G) | |
3 | g.120640271A>G | CA897953593 | HGD | c.879+1318T>C (n.879+1318T>C) n.219+1318T>C c.307+1318T>C c.285+1318T>C (n.285+1318T>C) c.299+1318T>C c.654+1318T>C (n.654+1318T>C) c.456+1318T>C (n.456+1318T>C) | dbSNP |
3 | g.120640273G>C | CA81783007 | HGD | c.879+1316C>G (n.879+1316C>G) n.219+1316C>G c.307+1316C>G c.285+1316C>G (n.285+1316C>G) c.299+1316C>G c.654+1316C>G (n.654+1316C>G) c.456+1316C>G (n.456+1316C>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640273G= | CA1397093905 | HGD | c.879+1316C= (n.879+1316C=) n.219+1316C= c.307+1316C= c.285+1316C= (n.285+1316C=) c.299+1316C= c.654+1316C= (n.654+1316C=) c.456+1316C= (n.456+1316C=) | |
3 | g.120640276A>C | CA2758138578 | HGD | c.879+1313T>G (n.879+1313T>G) n.219+1313T>G c.307+1313T>G c.285+1313T>G (n.285+1313T>G) c.299+1313T>G c.654+1313T>G (n.654+1313T>G) c.456+1313T>G (n.456+1313T>G) | |
3 | g.120640277G>A | CA1052820133 | HGD | c.879+1312C>T (n.879+1312C>T) n.219+1312C>T c.307+1312C>T c.285+1312C>T (n.285+1312C>T) c.299+1312C>T c.654+1312C>T (n.654+1312C>T) c.456+1312C>T (n.456+1312C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640277G= | CA1397093906 | HGD | c.879+1312C= (n.879+1312C=) n.219+1312C= c.307+1312C= c.285+1312C= (n.285+1312C=) c.299+1312C= c.654+1312C= (n.654+1312C=) c.456+1312C= (n.456+1312C=) | |
3 | g.120640278T>A | CA1052820139 | HGD | c.879+1311A>T (n.879+1311A>T) n.219+1311A>T c.307+1311A>T c.285+1311A>T (n.285+1311A>T) c.299+1311A>T c.654+1311A>T (n.654+1311A>T) c.456+1311A>T (n.456+1311A>T) | gnomAD v3 gnomAD v4 |
3 | g.120640278T>G | CA897953596 | HGD | c.879+1311A>C (n.879+1311A>C) n.219+1311A>C c.307+1311A>C c.285+1311A>C (n.285+1311A>C) c.299+1311A>C c.654+1311A>C (n.654+1311A>C) c.456+1311A>C (n.456+1311A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640278T= | CA1397093907 | HGD | c.879+1311A= (n.879+1311A=) n.219+1311A= c.307+1311A= c.285+1311A= (n.285+1311A=) c.299+1311A= c.654+1311A= (n.654+1311A=) c.456+1311A= (n.456+1311A=) | |
3 | g.120640280G>A | CA1397093909 | HGD | c.879+1309C>T (n.879+1309C>T) n.219+1309C>T c.307+1309C>T c.285+1309C>T (n.285+1309C>T) c.299+1309C>T c.654+1309C>T (n.654+1309C>T) c.456+1309C>T (n.456+1309C>T) | dbSNP |
3 | g.120640280G= | CA1397093908 | HGD | c.879+1309C= (n.879+1309C=) n.219+1309C= c.307+1309C= c.285+1309C= (n.285+1309C=) c.299+1309C= c.654+1309C= (n.654+1309C=) c.456+1309C= (n.456+1309C=) | |
3 | g.120640281G>A | CA81783012 | HGD | c.879+1308C>T (n.879+1308C>T) n.219+1308C>T c.307+1308C>T c.285+1308C>T (n.285+1308C>T) c.299+1308C>T c.654+1308C>T (n.654+1308C>T) c.456+1308C>T (n.456+1308C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640281G= | CA1397093910 | HGD | c.879+1308C= (n.879+1308C=) n.219+1308C= c.307+1308C= c.285+1308C= (n.285+1308C=) c.299+1308C= c.654+1308C= (n.654+1308C=) c.456+1308C= (n.456+1308C=) | |
3 | g.120640281G>T | CA2758138579 | HGD | c.879+1308C>A (n.879+1308C>A) n.219+1308C>A c.307+1308C>A c.285+1308C>A (n.285+1308C>A) c.299+1308C>A c.654+1308C>A (n.654+1308C>A) c.456+1308C>A (n.456+1308C>A) | |
3 | g.120640283A>C | CA2758138580 | HGD | c.879+1306T>G (n.879+1306T>G) n.219+1306T>G c.307+1306T>G c.285+1306T>G (n.285+1306T>G) c.299+1306T>G c.654+1306T>G (n.654+1306T>G) c.456+1306T>G (n.456+1306T>G) | |
3 | g.120640287A= | CA1397093911 | HGD | c.879+1302T= (n.879+1302T=) n.219+1302T= c.307+1302T= c.285+1302T= (n.285+1302T=) c.299+1302T= c.654+1302T= (n.654+1302T=) c.456+1302T= (n.456+1302T=) | |
3 | g.120640287A>C | CA2758138581 | HGD | c.879+1302T>G (n.879+1302T>G) n.219+1302T>G c.307+1302T>G c.285+1302T>G (n.285+1302T>G) c.299+1302T>G c.654+1302T>G (n.654+1302T>G) c.456+1302T>G (n.456+1302T>G) | |
3 | g.120640290dup | CA1397093912 | HGD | c.879+1301dup (n.879+1301dup) n.219+1301dup c.307+1301dup c.285+1301dup (n.285+1301dup) c.299+1301dup c.654+1301dup (n.654+1301dup) c.456+1301dup (n.456+1301dup) | dbSNP |
3 | g.120640293A= | CA1397093913 | HGD | c.879+1296T= (n.879+1296T=) n.219+1296T= c.307+1296T= c.285+1296T= (n.285+1296T=) c.299+1296T= c.654+1296T= (n.654+1296T=) c.456+1296T= (n.456+1296T=) | |
3 | g.120640293A>C | CA81783016 | HGD | c.879+1296T>G (n.879+1296T>G) n.219+1296T>G c.307+1296T>G c.285+1296T>G (n.285+1296T>G) c.299+1296T>G c.654+1296T>G (n.654+1296T>G) c.456+1296T>G (n.456+1296T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640294T>A | CA897953603 | HGD | c.879+1295A>T (n.879+1295A>T) n.219+1295A>T c.307+1295A>T c.285+1295A>T (n.285+1295A>T) c.299+1295A>T c.654+1295A>T (n.654+1295A>T) c.456+1295A>T (n.456+1295A>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120640294T= | CA1397093914 | HGD | c.879+1295A= (n.879+1295A=) n.219+1295A= c.307+1295A= c.285+1295A= (n.285+1295A=) c.299+1295A= c.654+1295A= (n.654+1295A=) c.456+1295A= (n.456+1295A=) | |
3 | g.120640295G>A | CA81783026 | HGD | c.879+1294C>T (n.879+1294C>T) n.219+1294C>T c.307+1294C>T c.285+1294C>T (n.285+1294C>T) c.299+1294C>T c.654+1294C>T (n.654+1294C>T) c.456+1294C>T (n.456+1294C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640295G>C | CA2758138582 | HGD | c.879+1294C>G (n.879+1294C>G) n.219+1294C>G c.307+1294C>G c.285+1294C>G (n.285+1294C>G) c.299+1294C>G c.654+1294C>G (n.654+1294C>G) c.456+1294C>G (n.456+1294C>G) | |
3 | g.120640295G= | CA1397093915 | HGD | c.879+1294C= (n.879+1294C=) n.219+1294C= c.307+1294C= c.285+1294C= (n.285+1294C=) c.299+1294C= c.654+1294C= (n.654+1294C=) c.456+1294C= (n.456+1294C=) | |
3 | g.120640295G>T | CA2758138583 | HGD | c.879+1294C>A (n.879+1294C>A) n.219+1294C>A c.307+1294C>A c.285+1294C>A (n.285+1294C>A) c.299+1294C>A c.654+1294C>A (n.654+1294C>A) c.456+1294C>A (n.456+1294C>A) | |
3 | g.120640300_120643612del | CA2582342875 | HGD | c.774+711_879+1293del c.202+990_307+1293del c.181-1915_285+1293del c.194+711_299+1293del c.550-1915_654+1293del c.351+711_456+1293del | ClinVar |
3 | g.120640297C= | CA1397093916 | HGD | c.879+1292G= (n.879+1292G=) n.219+1292G= c.307+1292G= c.285+1292G= (n.285+1292G=) c.299+1292G= c.654+1292G= (n.654+1292G=) c.456+1292G= (n.456+1292G=) | |
3 | g.120640297C>T | CA545608625 | HGD | c.879+1292G>A (n.879+1292G>A) n.219+1292G>A c.307+1292G>A c.285+1292G>A (n.285+1292G>A) c.299+1292G>A c.654+1292G>A (n.654+1292G>A) c.456+1292G>A (n.456+1292G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120640298A= | CA1397093917 | HGD | c.879+1291T= (n.879+1291T=) n.219+1291T= c.307+1291T= c.285+1291T= (n.285+1291T=) c.299+1291T= c.654+1291T= (n.654+1291T=) c.456+1291T= (n.456+1291T=) | |
3 | g.120640298A>G | CA897953611 | HGD | c.879+1291T>C (n.879+1291T>C) n.219+1291T>C c.307+1291T>C c.285+1291T>C (n.285+1291T>C) c.299+1291T>C c.654+1291T>C (n.654+1291T>C) c.456+1291T>C (n.456+1291T>C) | dbSNP gnomAD v3 gnomAD v4 |