Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.72347192_72347196delinsAACAG | CA2186743984 | HEXA | c.1073+852_1073+856delinsCTGTT (n.1073+852_1073+856delinsCTGTT) c.*809-486_*809-482delinsCTGTT (n.*809-486_*809-482delinsCTGTT) n.3_7delinsCTGTT c.1190-486_1190-482delinsCTGTT (n.1190-486_1190-482delinsCTGTT) c.1253-486_1253-482delinsCTGTT (n.1253-486_1253-482delinsCTGTT) n.1467-486_1467-482delinsCTGTT c.*483+852_*483+856delinsCTGTT (n.*483+852_*483+856delinsCTGTT) c.*950-486_*950-482delinsCTGTT (n.*950-486_*950-482delinsCTGTT) c.*971+852_*971+856delinsCTGTT (n.*971+852_*971+856delinsCTGTT) c.1331-486_1331-482delinsCTGTT (n.1331-486_1331-482delinsCTGTT) c.1074-486_1074-482delinsCTGTT (n.1074-486_1074-482delinsCTGTT) n.1104+852_1104+856delinsCTGTT c.*1045-486_*1045-482delinsCTGTT (n.*1045-486_*1045-482delinsCTGTT) n.1177+490_1177+494delinsCTGTT c.1147-486_1147-482delinsCTGTT (n.1147-486_1147-482delinsCTGTT) c.*1044+490_*1044+494delinsCTGTT (n.*1044+490_*1044+494delinsCTGTT) c.1146+490_1146+494delinsCTGTT (n.1146+490_1146+494delinsCTGTT) n.2912-486_2912-482delinsCTGTT c.*557-486_*557-482delinsCTGTT (n.*557-486_*557-482delinsCTGTT) c.*87-486_*87-482delinsCTGTT (n.*87-486_*87-482delinsCTGTT) c.1595-486_1595-482delinsCTGTT (n.1595-486_1595-482delinsCTGTT) c.*14-486_*14-482delinsCTGTT (n.*14-486_*14-482delinsCTGTT) c.*813-486_*813-482delinsCTGTT (n.*813-486_*813-482delinsCTGTT) c.1478-486_1478-482delinsCTGTT (n.1478-486_1478-482delinsCTGTT) c.413-871_413-867delinsCTGTT (n.413-871_413-867delinsCTGTT) c.825+852_825+856delinsCTGTT (n.825+852_825+856delinsCTGTT) c.1180-486_1180-482delinsCTGTT (n.1180-486_1180-482delinsCTGTT) c.945+852_945+856delinsCTGTT c.*668-486_*668-482delinsCTGTT (n.*668-486_*668-482delinsCTGTT) n.6550+490_6550+494delinsCTGTT n.1574+852_1574+856delinsCTGTT n.1115+852_1115+856delinsCTGTT | |
15 | g.72347193_72347196delinsCCGGC | CA919587876 | HEXA | c.1073+852_1073+855delinsGCCGG (n.1073+852_1073+855delinsGCCGG) c.*809-486_*809-483delinsGCCGG (n.*809-486_*809-483delinsGCCGG) n.3_6delinsGCCGG c.1190-486_1190-483delinsGCCGG (n.1190-486_1190-483delinsGCCGG) c.1253-486_1253-483delinsGCCGG (n.1253-486_1253-483delinsGCCGG) n.1467-486_1467-483delinsGCCGG c.*483+852_*483+855delinsGCCGG (n.*483+852_*483+855delinsGCCGG) c.*950-486_*950-483delinsGCCGG (n.*950-486_*950-483delinsGCCGG) c.*971+852_*971+855delinsGCCGG (n.*971+852_*971+855delinsGCCGG) c.1331-486_1331-483delinsGCCGG (n.1331-486_1331-483delinsGCCGG) c.1074-486_1074-483delinsGCCGG (n.1074-486_1074-483delinsGCCGG) n.1104+852_1104+855delinsGCCGG c.*1045-486_*1045-483delinsGCCGG (n.*1045-486_*1045-483delinsGCCGG) n.1177+490_1177+493delinsGCCGG c.1147-486_1147-483delinsGCCGG (n.1147-486_1147-483delinsGCCGG) c.*1044+490_*1044+493delinsGCCGG (n.*1044+490_*1044+493delinsGCCGG) c.1146+490_1146+493delinsGCCGG (n.1146+490_1146+493delinsGCCGG) n.2912-486_2912-483delinsGCCGG c.*557-486_*557-483delinsGCCGG (n.*557-486_*557-483delinsGCCGG) c.*87-486_*87-483delinsGCCGG (n.*87-486_*87-483delinsGCCGG) c.1595-486_1595-483delinsGCCGG (n.1595-486_1595-483delinsGCCGG) c.*14-486_*14-483delinsGCCGG (n.*14-486_*14-483delinsGCCGG) c.*813-486_*813-483delinsGCCGG (n.*813-486_*813-483delinsGCCGG) c.1478-486_1478-483delinsGCCGG (n.1478-486_1478-483delinsGCCGG) c.413-871_413-868delinsGCCGG (n.413-871_413-868delinsGCCGG) c.825+852_825+855delinsGCCGG (n.825+852_825+855delinsGCCGG) c.1180-486_1180-483delinsGCCGG (n.1180-486_1180-483delinsGCCGG) c.945+852_945+855delinsGCCGG c.*668-486_*668-483delinsGCCGG (n.*668-486_*668-483delinsGCCGG) n.6550+490_6550+493delinsGCCGG n.1574+852_1574+855delinsGCCGG n.1115+852_1115+855delinsGCCGG | dbSNP |
15 | g.72347196G>A | CA2540798104 | HEXA | c.1073+852C>T (n.1073+852C>T) c.*809-486C>T (n.*809-486C>T) n.3C>T c.1190-486C>T (n.1190-486C>T) c.1253-486C>T (n.1253-486C>T) n.1467-486C>T c.*483+852C>T (n.*483+852C>T) c.*950-486C>T (n.*950-486C>T) c.*971+852C>T (n.*971+852C>T) c.1331-486C>T (n.1331-486C>T) c.1074-486C>T (n.1074-486C>T) n.1104+852C>T c.*1045-486C>T (n.*1045-486C>T) n.1177+490C>T c.1147-486C>T (n.1147-486C>T) c.*1044+490C>T (n.*1044+490C>T) c.1146+490C>T (n.1146+490C>T) n.2912-486C>T c.*557-486C>T (n.*557-486C>T) c.*87-486C>T (n.*87-486C>T) c.1595-486C>T (n.1595-486C>T) c.*14-486C>T (n.*14-486C>T) c.*813-486C>T (n.*813-486C>T) c.1478-486C>T (n.1478-486C>T) c.413-871C>T (n.413-871C>T) c.825+852C>T (n.825+852C>T) c.1180-486C>T (n.1180-486C>T) c.945+852C>T c.*668-486C>T (n.*668-486C>T) n.6550+490C>T n.1574+852C>T n.1115+852C>T | |
15 | g.72347196G>C | CA971330792 | HEXA | c.1073+852C>G (n.1073+852C>G) c.*809-486C>G (n.*809-486C>G) n.3C>G c.1190-486C>G (n.1190-486C>G) c.1253-486C>G (n.1253-486C>G) n.1467-486C>G c.*483+852C>G (n.*483+852C>G) c.*950-486C>G (n.*950-486C>G) c.*971+852C>G (n.*971+852C>G) c.1331-486C>G (n.1331-486C>G) c.1074-486C>G (n.1074-486C>G) n.1104+852C>G c.*1045-486C>G (n.*1045-486C>G) n.1177+490C>G c.1147-486C>G (n.1147-486C>G) c.*1044+490C>G (n.*1044+490C>G) c.1146+490C>G (n.1146+490C>G) n.2912-486C>G c.*557-486C>G (n.*557-486C>G) c.*87-486C>G (n.*87-486C>G) c.1595-486C>G (n.1595-486C>G) c.*14-486C>G (n.*14-486C>G) c.*813-486C>G (n.*813-486C>G) c.1478-486C>G (n.1478-486C>G) c.413-871C>G (n.413-871C>G) c.825+852C>G (n.825+852C>G) c.1180-486C>G (n.1180-486C>G) c.945+852C>G c.*668-486C>G (n.*668-486C>G) n.6550+490C>G n.1574+852C>G n.1115+852C>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347196G= | CA2186743985 | HEXA | c.1073+852C= (n.1073+852C=) c.*809-486C= (n.*809-486C=) n.3C= c.1190-486C= (n.1190-486C=) c.1253-486C= (n.1253-486C=) n.1467-486C= c.*483+852C= (n.*483+852C=) c.*950-486C= (n.*950-486C=) c.*971+852C= (n.*971+852C=) c.1331-486C= (n.1331-486C=) c.1074-486C= (n.1074-486C=) n.1104+852C= c.*1045-486C= (n.*1045-486C=) n.1177+490C= c.1147-486C= (n.1147-486C=) c.*1044+490C= (n.*1044+490C=) c.1146+490C= (n.1146+490C=) n.2912-486C= c.*557-486C= (n.*557-486C=) c.*87-486C= (n.*87-486C=) c.1595-486C= (n.1595-486C=) c.*14-486C= (n.*14-486C=) c.*813-486C= (n.*813-486C=) c.1478-486C= (n.1478-486C=) c.413-871C= (n.413-871C=) c.825+852C= (n.825+852C=) c.1180-486C= (n.1180-486C=) c.945+852C= c.*668-486C= (n.*668-486C=) n.6550+490C= n.1574+852C= n.1115+852C= | |
15 | g.72347196G>T | CA971330793 | HEXA | c.1073+852C>A (n.1073+852C>A) c.*809-486C>A (n.*809-486C>A) n.3C>A c.1190-486C>A (n.1190-486C>A) c.1253-486C>A (n.1253-486C>A) n.1467-486C>A c.*483+852C>A (n.*483+852C>A) c.*950-486C>A (n.*950-486C>A) c.*971+852C>A (n.*971+852C>A) c.1331-486C>A (n.1331-486C>A) c.1074-486C>A (n.1074-486C>A) n.1104+852C>A c.*1045-486C>A (n.*1045-486C>A) n.1177+490C>A c.1147-486C>A (n.1147-486C>A) c.*1044+490C>A (n.*1044+490C>A) c.1146+490C>A (n.1146+490C>A) n.2912-486C>A c.*557-486C>A (n.*557-486C>A) c.*87-486C>A (n.*87-486C>A) c.1595-486C>A (n.1595-486C>A) c.*14-486C>A (n.*14-486C>A) c.*813-486C>A (n.*813-486C>A) c.1478-486C>A (n.1478-486C>A) c.413-871C>A (n.413-871C>A) c.825+852C>A (n.825+852C>A) c.1180-486C>A (n.1180-486C>A) c.945+852C>A c.*668-486C>A (n.*668-486C>A) n.6550+490C>A n.1574+852C>A n.1115+852C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347196_72347197insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG | CA1139630115 | HEXA | c.1073+852_1073+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1073+852_1073+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*809-486_*809-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*809-486_*809-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) n.3_4insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC c.1190-486_1190-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1190-486_1190-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1253-486_1253-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1253-486_1253-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) n.1467-486_1467-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC c.*483+852_*483+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*483+852_*483+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*950-486_*950-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*950-486_*950-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*971+852_*971+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*971+852_*971+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1331-486_1331-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1331-486_1331-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1074-486_1074-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1074-486_1074-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) n.1104+852_1104+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC c.*1045-486_*1045-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*1045-486_*1045-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) n.1177+490_1177+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC c.1147-486_1147-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1147-486_1147-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*1044+490_*1044+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*1044+490_*1044+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1146+490_1146+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1146+490_1146+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) n.2912-486_2912-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC c.*557-486_*557-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*557-486_*557-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*87-486_*87-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*87-486_*87-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1595-486_1595-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1595-486_1595-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*14-486_*14-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*14-486_*14-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*813-486_*813-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*813-486_*813-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1478-486_1478-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1478-486_1478-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.413-871_413-870insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.413-871_413-870insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.825+852_825+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.825+852_825+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1180-486_1180-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1180-486_1180-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) c.945+852_945+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC c.*668-486_*668-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*668-486_*668-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC) n.6550+490_6550+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC n.1574+852_1574+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC n.1115+852_1115+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAC | |
15 | g.72347196_72347197insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG | CA1139587931 | HEXA | c.1073+852_1073+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1073+852_1073+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*809-486_*809-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*809-486_*809-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) n.3_4insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC c.1190-486_1190-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1190-486_1190-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1253-486_1253-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1253-486_1253-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) n.1467-486_1467-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC c.*483+852_*483+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*483+852_*483+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*950-486_*950-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*950-486_*950-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*971+852_*971+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*971+852_*971+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1331-486_1331-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1331-486_1331-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1074-486_1074-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1074-486_1074-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) n.1104+852_1104+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC c.*1045-486_*1045-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*1045-486_*1045-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) n.1177+490_1177+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC c.1147-486_1147-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1147-486_1147-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*1044+490_*1044+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*1044+490_*1044+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1146+490_1146+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1146+490_1146+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) n.2912-486_2912-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC c.*557-486_*557-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*557-486_*557-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*87-486_*87-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*87-486_*87-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1595-486_1595-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1595-486_1595-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*14-486_*14-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*14-486_*14-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.*813-486_*813-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*813-486_*813-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1478-486_1478-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1478-486_1478-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.413-871_413-870insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.413-871_413-870insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.825+852_825+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.825+852_825+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.1180-486_1180-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.1180-486_1180-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) c.945+852_945+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC c.*668-486_*668-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC (n.*668-486_*668-485insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC) n.6550+490_6550+491insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC n.1574+852_1574+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC n.1115+852_1115+853insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAC | |
15 | g.72347196_72347197insGCGTGAGCCACCGCGCCCGGC | CA272610589 | HEXA | c.1073+851_1073+852insGCCGGGCGCGGTGGCTCACGC (n.1073+851_1073+852insGCCGGGCGCGGTGGCTCACGC) c.*809-487_*809-486insGCCGGGCGCGGTGGCTCACGC (n.*809-487_*809-486insGCCGGGCGCGGTGGCTCACGC) n.2_3insGCCGGGCGCGGTGGCTCACGC c.1190-487_1190-486insGCCGGGCGCGGTGGCTCACGC (n.1190-487_1190-486insGCCGGGCGCGGTGGCTCACGC) c.1253-487_1253-486insGCCGGGCGCGGTGGCTCACGC (n.1253-487_1253-486insGCCGGGCGCGGTGGCTCACGC) n.1467-487_1467-486insGCCGGGCGCGGTGGCTCACGC c.*483+851_*483+852insGCCGGGCGCGGTGGCTCACGC (n.*483+851_*483+852insGCCGGGCGCGGTGGCTCACGC) c.*950-487_*950-486insGCCGGGCGCGGTGGCTCACGC (n.*950-487_*950-486insGCCGGGCGCGGTGGCTCACGC) c.*971+851_*971+852insGCCGGGCGCGGTGGCTCACGC (n.*971+851_*971+852insGCCGGGCGCGGTGGCTCACGC) c.1331-487_1331-486insGCCGGGCGCGGTGGCTCACGC (n.1331-487_1331-486insGCCGGGCGCGGTGGCTCACGC) c.1074-487_1074-486insGCCGGGCGCGGTGGCTCACGC (n.1074-487_1074-486insGCCGGGCGCGGTGGCTCACGC) n.1104+851_1104+852insGCCGGGCGCGGTGGCTCACGC c.*1045-487_*1045-486insGCCGGGCGCGGTGGCTCACGC (n.*1045-487_*1045-486insGCCGGGCGCGGTGGCTCACGC) n.1177+489_1177+490insGCCGGGCGCGGTGGCTCACGC c.1147-487_1147-486insGCCGGGCGCGGTGGCTCACGC (n.1147-487_1147-486insGCCGGGCGCGGTGGCTCACGC) c.*1044+489_*1044+490insGCCGGGCGCGGTGGCTCACGC (n.*1044+489_*1044+490insGCCGGGCGCGGTGGCTCACGC) c.1146+489_1146+490insGCCGGGCGCGGTGGCTCACGC (n.1146+489_1146+490insGCCGGGCGCGGTGGCTCACGC) n.2912-487_2912-486insGCCGGGCGCGGTGGCTCACGC c.*557-487_*557-486insGCCGGGCGCGGTGGCTCACGC (n.*557-487_*557-486insGCCGGGCGCGGTGGCTCACGC) c.*87-487_*87-486insGCCGGGCGCGGTGGCTCACGC (n.*87-487_*87-486insGCCGGGCGCGGTGGCTCACGC) c.1595-487_1595-486insGCCGGGCGCGGTGGCTCACGC (n.1595-487_1595-486insGCCGGGCGCGGTGGCTCACGC) c.*14-487_*14-486insGCCGGGCGCGGTGGCTCACGC (n.*14-487_*14-486insGCCGGGCGCGGTGGCTCACGC) c.*813-487_*813-486insGCCGGGCGCGGTGGCTCACGC (n.*813-487_*813-486insGCCGGGCGCGGTGGCTCACGC) c.1478-487_1478-486insGCCGGGCGCGGTGGCTCACGC (n.1478-487_1478-486insGCCGGGCGCGGTGGCTCACGC) c.413-872_413-871insGCCGGGCGCGGTGGCTCACGC (n.413-872_413-871insGCCGGGCGCGGTGGCTCACGC) c.825+851_825+852insGCCGGGCGCGGTGGCTCACGC (n.825+851_825+852insGCCGGGCGCGGTGGCTCACGC) c.1180-487_1180-486insGCCGGGCGCGGTGGCTCACGC (n.1180-487_1180-486insGCCGGGCGCGGTGGCTCACGC) c.945+851_945+852insGCCGGGCGCGGTGGCTCACGC c.*668-487_*668-486insGCCGGGCGCGGTGGCTCACGC (n.*668-487_*668-486insGCCGGGCGCGGTGGCTCACGC) n.6550+489_6550+490insGCCGGGCGCGGTGGCTCACGC n.1574+851_1574+852insGCCGGGCGCGGTGGCTCACGC n.1115+851_1115+852insGCCGGGCGCGGTGGCTCACGC | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347197C>A | CA971330794 | HEXA | c.1073+851G>T (n.1073+851G>T) c.*809-487G>T (n.*809-487G>T) n.2G>T c.1190-487G>T (n.1190-487G>T) c.1253-487G>T (n.1253-487G>T) n.1467-487G>T c.*483+851G>T (n.*483+851G>T) c.*950-487G>T (n.*950-487G>T) c.*971+851G>T (n.*971+851G>T) c.1331-487G>T (n.1331-487G>T) c.1074-487G>T (n.1074-487G>T) n.1104+851G>T c.*1045-487G>T (n.*1045-487G>T) n.1177+489G>T c.1147-487G>T (n.1147-487G>T) c.*1044+489G>T (n.*1044+489G>T) c.1146+489G>T (n.1146+489G>T) n.2912-487G>T c.*557-487G>T (n.*557-487G>T) c.*87-487G>T (n.*87-487G>T) c.1595-487G>T (n.1595-487G>T) c.*14-487G>T (n.*14-487G>T) c.*813-487G>T (n.*813-487G>T) c.1478-487G>T (n.1478-487G>T) c.413-872G>T (n.413-872G>T) c.825+851G>T (n.825+851G>T) c.1180-487G>T (n.1180-487G>T) c.945+851G>T c.*668-487G>T (n.*668-487G>T) n.6550+489G>T n.1574+851G>T n.1115+851G>T | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAAATAGTTCTT | CA2804700026 | HEXA | c.1073+851_1073+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1073+851_1073+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.*809-487_*809-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*809-487_*809-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1190-487_1190-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1190-487_1190-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1253-487_1253-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1253-487_1253-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) n.1467-487_1467-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG c.*483+851_*483+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*483+851_*483+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.*950-487_*950-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*950-487_*950-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.*971+851_*971+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*971+851_*971+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1331-487_1331-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1331-487_1331-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1074-487_1074-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1074-487_1074-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) n.1104+851_1104+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG c.*1045-487_*1045-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*1045-487_*1045-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) n.1177+489_1177+490insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG c.1147-487_1147-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1147-487_1147-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.*1044+489_*1044+490insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*1044+489_*1044+490insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1146+489_1146+490insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1146+489_1146+490insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) n.2912-487_2912-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG c.*557-487_*557-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*557-487_*557-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.*87-487_*87-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*87-487_*87-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1595-487_1595-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1595-487_1595-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.*14-487_*14-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*14-487_*14-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.*813-487_*813-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*813-487_*813-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1478-487_1478-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1478-487_1478-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.413-872_413-871insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.413-872_413-871insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.825+851_825+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.825+851_825+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.1180-487_1180-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.1180-487_1180-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) c.945+851_945+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG c.*668-487_*668-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG (n.*668-487_*668-486insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG) n.6550+489_6550+490insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG n.1574+851_1574+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG n.1115+851_1115+852insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACTATTTCTG | |
15 | g.72347198A>C | CA2804700027 | HEXA | c.1073+850T>G (n.1073+850T>G) c.*809-488T>G (n.*809-488T>G) n.1T>G c.1190-488T>G (n.1190-488T>G) c.1253-488T>G (n.1253-488T>G) n.1467-488T>G c.*483+850T>G (n.*483+850T>G) c.*950-488T>G (n.*950-488T>G) c.*971+850T>G (n.*971+850T>G) c.1331-488T>G (n.1331-488T>G) c.1074-488T>G (n.1074-488T>G) n.1104+850T>G c.*1045-488T>G (n.*1045-488T>G) n.1177+488T>G c.1147-488T>G (n.1147-488T>G) c.*1044+488T>G (n.*1044+488T>G) n.1465T>G c.1146+488T>G (n.1146+488T>G) n.2912-488T>G c.*557-488T>G (n.*557-488T>G) c.*87-488T>G (n.*87-488T>G) c.1595-488T>G (n.1595-488T>G) c.*14-488T>G (n.*14-488T>G) c.*813-488T>G (n.*813-488T>G) c.1478-488T>G (n.1478-488T>G) c.413-873T>G (n.413-873T>G) c.825+850T>G (n.825+850T>G) c.1180-488T>G (n.1180-488T>G) c.945+850T>G c.*668-488T>G (n.*668-488T>G) n.6550+488T>G n.1574+850T>G n.1115+850T>G | |
15 | g.72347199G>A | CA971330795 | HEXA | c.1073+849C>T (n.1073+849C>T) c.*808+487C>T (n.*808+487C>T) c.1189+487C>T (n.1189+487C>T) c.1252+487C>T (n.1252+487C>T) n.1466+487C>T c.*483+849C>T (n.*483+849C>T) c.*949+487C>T (n.*949+487C>T) c.*971+849C>T (n.*971+849C>T) c.1330+487C>T (n.1330+487C>T) c.1074-489C>T (n.1074-489C>T) n.1104+849C>T c.*1044+487C>T (n.*1044+487C>T) n.1177+487C>T c.1146+487C>T (n.1146+487C>T) n.1464C>T n.2912-489C>T c.*556+487C>T (n.*556+487C>T) c.*86+487C>T (n.*86+487C>T) c.1594+487C>T (n.1594+487C>T) c.*14-489C>T (n.*14-489C>T) c.*812+487C>T (n.*812+487C>T) c.1477+487C>T (n.1477+487C>T) c.413-874C>T (n.413-874C>T) c.825+849C>T (n.825+849C>T) c.1179+487C>T (n.1179+487C>T) c.945+849C>T c.*667+487C>T (n.*667+487C>T) n.6550+487C>T n.1574+849C>T n.1115+849C>T | gnomAD v3 gnomAD v4 |
15 | g.72347199G>C | CA2804700028 | HEXA | c.1073+849C>G (n.1073+849C>G) c.*808+487C>G (n.*808+487C>G) c.1189+487C>G (n.1189+487C>G) c.1252+487C>G (n.1252+487C>G) n.1466+487C>G c.*483+849C>G (n.*483+849C>G) c.*949+487C>G (n.*949+487C>G) c.*971+849C>G (n.*971+849C>G) c.1330+487C>G (n.1330+487C>G) c.1074-489C>G (n.1074-489C>G) n.1104+849C>G c.*1044+487C>G (n.*1044+487C>G) n.1177+487C>G c.1146+487C>G (n.1146+487C>G) n.1464C>G n.2912-489C>G c.*556+487C>G (n.*556+487C>G) c.*86+487C>G (n.*86+487C>G) c.1594+487C>G (n.1594+487C>G) c.*14-489C>G (n.*14-489C>G) c.*812+487C>G (n.*812+487C>G) c.1477+487C>G (n.1477+487C>G) c.413-874C>G (n.413-874C>G) c.825+849C>G (n.825+849C>G) c.1179+487C>G (n.1179+487C>G) c.945+849C>G c.*667+487C>G (n.*667+487C>G) n.6550+487C>G n.1574+849C>G n.1115+849C>G | |
15 | g.72347199G= | CA2186743986 | HEXA | c.1073+849C= (n.1073+849C=) c.*808+487C= (n.*808+487C=) c.1189+487C= (n.1189+487C=) c.1252+487C= (n.1252+487C=) n.1466+487C= c.*483+849C= (n.*483+849C=) c.*949+487C= (n.*949+487C=) c.*971+849C= (n.*971+849C=) c.1330+487C= (n.1330+487C=) c.1074-489C= (n.1074-489C=) n.1104+849C= c.*1044+487C= (n.*1044+487C=) n.1177+487C= c.1146+487C= (n.1146+487C=) n.1464C= n.2912-489C= c.*556+487C= (n.*556+487C=) c.*86+487C= (n.*86+487C=) c.1594+487C= (n.1594+487C=) c.*14-489C= (n.*14-489C=) c.*812+487C= (n.*812+487C=) c.1477+487C= (n.1477+487C=) c.413-874C= (n.413-874C=) c.825+849C= (n.825+849C=) c.1179+487C= (n.1179+487C=) c.945+849C= c.*667+487C= (n.*667+487C=) n.6550+487C= n.1574+849C= n.1115+849C= | |
15 | g.72347199G>T | CA971330796 | HEXA | c.1073+849C>A (n.1073+849C>A) c.*808+487C>A (n.*808+487C>A) c.1189+487C>A (n.1189+487C>A) c.1252+487C>A (n.1252+487C>A) n.1466+487C>A c.*483+849C>A (n.*483+849C>A) c.*949+487C>A (n.*949+487C>A) c.*971+849C>A (n.*971+849C>A) c.1330+487C>A (n.1330+487C>A) c.1074-489C>A (n.1074-489C>A) n.1104+849C>A c.*1044+487C>A (n.*1044+487C>A) n.1177+487C>A c.1146+487C>A (n.1146+487C>A) n.1464C>A n.2912-489C>A c.*556+487C>A (n.*556+487C>A) c.*86+487C>A (n.*86+487C>A) c.1594+487C>A (n.1594+487C>A) c.*14-489C>A (n.*14-489C>A) c.*812+487C>A (n.*812+487C>A) c.1477+487C>A (n.1477+487C>A) c.413-874C>A (n.413-874C>A) c.825+849C>A (n.825+849C>A) c.1179+487C>A (n.1179+487C>A) c.945+849C>A c.*667+487C>A (n.*667+487C>A) n.6550+487C>A n.1574+849C>A n.1115+849C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347200A>G | CA2804700029 | HEXA | c.1073+848T>C (n.1073+848T>C) c.*808+486T>C (n.*808+486T>C) c.1189+486T>C (n.1189+486T>C) c.1252+486T>C (n.1252+486T>C) n.1466+486T>C c.*483+848T>C (n.*483+848T>C) c.*949+486T>C (n.*949+486T>C) c.*971+848T>C (n.*971+848T>C) c.1330+486T>C (n.1330+486T>C) c.1074-490T>C (n.1074-490T>C) n.1104+848T>C c.*1044+486T>C (n.*1044+486T>C) n.1177+486T>C c.1146+486T>C (n.1146+486T>C) n.1463T>C n.2912-490T>C c.*556+486T>C (n.*556+486T>C) c.*86+486T>C (n.*86+486T>C) c.1594+486T>C (n.1594+486T>C) c.*14-490T>C (n.*14-490T>C) c.*812+486T>C (n.*812+486T>C) c.1477+486T>C (n.1477+486T>C) c.413-875T>C (n.413-875T>C) c.825+848T>C (n.825+848T>C) c.1179+486T>C (n.1179+486T>C) c.945+848T>C c.*667+486T>C (n.*667+486T>C) n.6550+486T>C n.1574+848T>C n.1115+848T>C | |
15 | g.72347202A>G | CA2804700030 | HEXA | c.1073+846T>C (n.1073+846T>C) c.*808+484T>C (n.*808+484T>C) c.1189+484T>C (n.1189+484T>C) c.1252+484T>C (n.1252+484T>C) n.1466+484T>C c.*483+846T>C (n.*483+846T>C) c.*949+484T>C (n.*949+484T>C) c.*971+846T>C (n.*971+846T>C) c.1330+484T>C (n.1330+484T>C) c.1074-492T>C (n.1074-492T>C) n.1104+846T>C c.*1044+484T>C (n.*1044+484T>C) n.1177+484T>C c.1146+484T>C (n.1146+484T>C) n.1461T>C n.2912-492T>C c.*556+484T>C (n.*556+484T>C) c.*86+484T>C (n.*86+484T>C) c.1594+484T>C (n.1594+484T>C) c.*14-492T>C (n.*14-492T>C) c.*812+484T>C (n.*812+484T>C) c.1477+484T>C (n.1477+484T>C) c.413-877T>C (n.413-877T>C) c.825+846T>C (n.825+846T>C) c.1179+484T>C (n.1179+484T>C) c.945+846T>C c.*667+484T>C (n.*667+484T>C) n.6550+484T>C n.1574+846T>C n.1115+846T>C | |
15 | g.72347202_72347203insGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2831810865 | HEXA | c.1073+845_1073+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1073+845_1073+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.*808+483_*808+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*808+483_*808+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.1189+483_1189+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1189+483_1189+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.1252+483_1252+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1252+483_1252+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) n.1466+483_1466+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC c.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*483+845_*483+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.*949+483_*949+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*949+483_*949+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.*971+845_*971+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*971+845_*971+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.1330+483_1330+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1330+483_1330+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1074-493_1074-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) n.1104+845_1104+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC c.*1044+483_*1044+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*1044+483_*1044+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) n.1177+483_1177+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC c.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1146+483_1146+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) n.1460_1461insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC n.2912-493_2912-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC c.*556+483_*556+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*556+483_*556+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.*86+483_*86+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*86+483_*86+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.1594+483_1594+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1594+483_1594+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.*14-493_*14-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*14-493_*14-492insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.*812+483_*812+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*812+483_*812+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.1477+483_1477+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1477+483_1477+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.413-878_413-877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.413-878_413-877insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.825+845_825+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.825+845_825+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.1179+483_1179+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) c.945+845_945+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC c.*667+483_*667+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC (n.*667+483_*667+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC) n.6550+483_6550+484insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC n.1574+845_1574+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC n.1115+845_1115+846insAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCC | |
15 | g.72347203T>A | CA971330797 | HEXA | c.1073+845A>T (n.1073+845A>T) c.*808+483A>T (n.*808+483A>T) c.1189+483A>T (n.1189+483A>T) c.1252+483A>T (n.1252+483A>T) n.1466+483A>T c.*483+845A>T (n.*483+845A>T) c.*949+483A>T (n.*949+483A>T) c.*971+845A>T (n.*971+845A>T) c.1330+483A>T (n.1330+483A>T) c.1074-493A>T (n.1074-493A>T) n.1104+845A>T c.*1044+483A>T (n.*1044+483A>T) n.1177+483A>T c.1146+483A>T (n.1146+483A>T) n.1460A>T n.2912-493A>T c.*556+483A>T (n.*556+483A>T) c.*86+483A>T (n.*86+483A>T) c.1594+483A>T (n.1594+483A>T) c.*14-493A>T (n.*14-493A>T) c.*812+483A>T (n.*812+483A>T) c.1477+483A>T (n.1477+483A>T) c.413-878A>T (n.413-878A>T) c.825+845A>T (n.825+845A>T) c.1179+483A>T (n.1179+483A>T) c.945+845A>T c.*667+483A>T (n.*667+483A>T) n.6550+483A>T n.1574+845A>T n.1115+845A>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347203T>C | CA618766109 | HEXA | c.1073+845A>G (n.1073+845A>G) c.*808+483A>G (n.*808+483A>G) c.1189+483A>G (n.1189+483A>G) c.1252+483A>G (n.1252+483A>G) n.1466+483A>G c.*483+845A>G (n.*483+845A>G) c.*949+483A>G (n.*949+483A>G) c.*971+845A>G (n.*971+845A>G) c.1330+483A>G (n.1330+483A>G) c.1074-493A>G (n.1074-493A>G) n.1104+845A>G c.*1044+483A>G (n.*1044+483A>G) n.1177+483A>G c.1146+483A>G (n.1146+483A>G) n.1460A>G n.2912-493A>G c.*556+483A>G (n.*556+483A>G) c.*86+483A>G (n.*86+483A>G) c.1594+483A>G (n.1594+483A>G) c.*14-493A>G (n.*14-493A>G) c.*812+483A>G (n.*812+483A>G) c.1477+483A>G (n.1477+483A>G) c.413-878A>G (n.413-878A>G) c.825+845A>G (n.825+845A>G) c.1179+483A>G (n.1179+483A>G) c.945+845A>G c.*667+483A>G (n.*667+483A>G) n.6550+483A>G n.1574+845A>G n.1115+845A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347203T>G | CA2830902232 | HEXA | c.1073+845A>C (n.1073+845A>C) c.*808+483A>C (n.*808+483A>C) c.1189+483A>C (n.1189+483A>C) c.1252+483A>C (n.1252+483A>C) n.1466+483A>C c.*483+845A>C (n.*483+845A>C) c.*949+483A>C (n.*949+483A>C) c.*971+845A>C (n.*971+845A>C) c.1330+483A>C (n.1330+483A>C) c.1074-493A>C (n.1074-493A>C) n.1104+845A>C c.*1044+483A>C (n.*1044+483A>C) n.1177+483A>C c.1146+483A>C (n.1146+483A>C) n.1460A>C n.2912-493A>C c.*556+483A>C (n.*556+483A>C) c.*86+483A>C (n.*86+483A>C) c.1594+483A>C (n.1594+483A>C) c.*14-493A>C (n.*14-493A>C) c.*812+483A>C (n.*812+483A>C) c.1477+483A>C (n.1477+483A>C) c.413-878A>C (n.413-878A>C) c.825+845A>C (n.825+845A>C) c.1179+483A>C (n.1179+483A>C) c.945+845A>C c.*667+483A>C (n.*667+483A>C) n.6550+483A>C n.1574+845A>C n.1115+845A>C | |
15 | g.72347203T= | CA2186743987 | HEXA | c.1073+845A= (n.1073+845A=) c.*808+483A= (n.*808+483A=) c.1189+483A= (n.1189+483A=) c.1252+483A= (n.1252+483A=) n.1466+483A= c.*483+845A= (n.*483+845A=) c.*949+483A= (n.*949+483A=) c.*971+845A= (n.*971+845A=) c.1330+483A= (n.1330+483A=) c.1074-493A= (n.1074-493A=) n.1104+845A= c.*1044+483A= (n.*1044+483A=) n.1177+483A= c.1146+483A= (n.1146+483A=) n.1460A= n.2912-493A= c.*556+483A= (n.*556+483A=) c.*86+483A= (n.*86+483A=) c.1594+483A= (n.1594+483A=) c.*14-493A= (n.*14-493A=) c.*812+483A= (n.*812+483A=) c.1477+483A= (n.1477+483A=) c.413-878A= (n.413-878A=) c.825+845A= (n.825+845A=) c.1179+483A= (n.1179+483A=) c.945+845A= c.*667+483A= (n.*667+483A=) n.6550+483A= n.1574+845A= n.1115+845A= | |
15 | g.72347204A= | CA2186743988 | HEXA | c.1073+844T= (n.1073+844T=) c.*808+482T= (n.*808+482T=) c.1189+482T= (n.1189+482T=) c.1252+482T= (n.1252+482T=) n.1466+482T= c.*483+844T= (n.*483+844T=) c.*949+482T= (n.*949+482T=) c.*971+844T= (n.*971+844T=) c.1330+482T= (n.1330+482T=) c.1074-494T= (n.1074-494T=) n.1104+844T= c.*1044+482T= (n.*1044+482T=) n.1177+482T= c.1146+482T= (n.1146+482T=) n.1459T= n.2912-494T= c.*556+482T= (n.*556+482T=) c.*86+482T= (n.*86+482T=) c.1594+482T= (n.1594+482T=) c.*14-494T= (n.*14-494T=) c.*812+482T= (n.*812+482T=) c.1477+482T= (n.1477+482T=) c.413-879T= (n.413-879T=) c.825+844T= (n.825+844T=) c.1179+482T= (n.1179+482T=) c.945+844T= c.*667+482T= (n.*667+482T=) n.6550+482T= n.1574+844T= n.1115+844T= | |
15 | g.72347204A>C | CA715464466 | HEXA | c.1073+844T>G (n.1073+844T>G) c.*808+482T>G (n.*808+482T>G) c.1189+482T>G (n.1189+482T>G) c.1252+482T>G (n.1252+482T>G) n.1466+482T>G c.*483+844T>G (n.*483+844T>G) c.*949+482T>G (n.*949+482T>G) c.*971+844T>G (n.*971+844T>G) c.1330+482T>G (n.1330+482T>G) c.1074-494T>G (n.1074-494T>G) n.1104+844T>G c.*1044+482T>G (n.*1044+482T>G) n.1177+482T>G c.1146+482T>G (n.1146+482T>G) n.1459T>G n.2912-494T>G c.*556+482T>G (n.*556+482T>G) c.*86+482T>G (n.*86+482T>G) c.1594+482T>G (n.1594+482T>G) c.*14-494T>G (n.*14-494T>G) c.*812+482T>G (n.*812+482T>G) c.1477+482T>G (n.1477+482T>G) c.413-879T>G (n.413-879T>G) c.825+844T>G (n.825+844T>G) c.1179+482T>G (n.1179+482T>G) c.945+844T>G c.*667+482T>G (n.*667+482T>G) n.6550+482T>G n.1574+844T>G n.1115+844T>G | dbSNP |
15 | g.72347204A>G | CA971330798 | HEXA | c.1073+844T>C (n.1073+844T>C) c.*808+482T>C (n.*808+482T>C) c.1189+482T>C (n.1189+482T>C) c.1252+482T>C (n.1252+482T>C) n.1466+482T>C c.*483+844T>C (n.*483+844T>C) c.*949+482T>C (n.*949+482T>C) c.*971+844T>C (n.*971+844T>C) c.1330+482T>C (n.1330+482T>C) c.1074-494T>C (n.1074-494T>C) n.1104+844T>C c.*1044+482T>C (n.*1044+482T>C) n.1177+482T>C c.1146+482T>C (n.1146+482T>C) n.1459T>C n.2912-494T>C c.*556+482T>C (n.*556+482T>C) c.*86+482T>C (n.*86+482T>C) c.1594+482T>C (n.1594+482T>C) c.*14-494T>C (n.*14-494T>C) c.*812+482T>C (n.*812+482T>C) c.1477+482T>C (n.1477+482T>C) c.413-879T>C (n.413-879T>C) c.825+844T>C (n.825+844T>C) c.1179+482T>C (n.1179+482T>C) c.945+844T>C c.*667+482T>C (n.*667+482T>C) n.6550+482T>C n.1574+844T>C n.1115+844T>C | gnomAD v3 gnomAD v4 |
15 | g.72347204A>T | CA971330799 | HEXA | c.1073+844T>A (n.1073+844T>A) c.*808+482T>A (n.*808+482T>A) c.1189+482T>A (n.1189+482T>A) c.1252+482T>A (n.1252+482T>A) n.1466+482T>A c.*483+844T>A (n.*483+844T>A) c.*949+482T>A (n.*949+482T>A) c.*971+844T>A (n.*971+844T>A) c.1330+482T>A (n.1330+482T>A) c.1074-494T>A (n.1074-494T>A) n.1104+844T>A c.*1044+482T>A (n.*1044+482T>A) n.1177+482T>A c.1146+482T>A (n.1146+482T>A) n.1459T>A n.2912-494T>A c.*556+482T>A (n.*556+482T>A) c.*86+482T>A (n.*86+482T>A) c.1594+482T>A (n.1594+482T>A) c.*14-494T>A (n.*14-494T>A) c.*812+482T>A (n.*812+482T>A) c.1477+482T>A (n.1477+482T>A) c.413-879T>A (n.413-879T>A) c.825+844T>A (n.825+844T>A) c.1179+482T>A (n.1179+482T>A) c.945+844T>A c.*667+482T>A (n.*667+482T>A) n.6550+482T>A n.1574+844T>A n.1115+844T>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347205G>A | CA971330800 | HEXA | c.1073+843C>T (n.1073+843C>T) c.*808+481C>T (n.*808+481C>T) c.1189+481C>T (n.1189+481C>T) c.1252+481C>T (n.1252+481C>T) n.1466+481C>T c.*483+843C>T (n.*483+843C>T) c.*949+481C>T (n.*949+481C>T) c.*971+843C>T (n.*971+843C>T) c.1330+481C>T (n.1330+481C>T) c.1074-495C>T (n.1074-495C>T) n.1104+843C>T c.*1044+481C>T (n.*1044+481C>T) n.1177+481C>T c.1146+481C>T (n.1146+481C>T) n.1458C>T n.2912-495C>T c.*556+481C>T (n.*556+481C>T) c.*86+481C>T (n.*86+481C>T) c.1594+481C>T (n.1594+481C>T) c.*14-495C>T (n.*14-495C>T) c.*812+481C>T (n.*812+481C>T) c.1477+481C>T (n.1477+481C>T) c.413-880C>T (n.413-880C>T) c.825+843C>T (n.825+843C>T) c.1179+481C>T (n.1179+481C>T) c.945+843C>T c.*667+481C>T (n.*667+481C>T) n.6550+481C>T n.1574+843C>T n.1115+843C>T | gnomAD v3 gnomAD v4 |
15 | g.72347205G= | CA2186743989 | HEXA | c.1073+843C= (n.1073+843C=) c.*808+481C= (n.*808+481C=) c.1189+481C= (n.1189+481C=) c.1252+481C= (n.1252+481C=) n.1466+481C= c.*483+843C= (n.*483+843C=) c.*949+481C= (n.*949+481C=) c.*971+843C= (n.*971+843C=) c.1330+481C= (n.1330+481C=) c.1074-495C= (n.1074-495C=) n.1104+843C= c.*1044+481C= (n.*1044+481C=) n.1177+481C= c.1146+481C= (n.1146+481C=) n.1458C= n.2912-495C= c.*556+481C= (n.*556+481C=) c.*86+481C= (n.*86+481C=) c.1594+481C= (n.1594+481C=) c.*14-495C= (n.*14-495C=) c.*812+481C= (n.*812+481C=) c.1477+481C= (n.1477+481C=) c.413-880C= (n.413-880C=) c.825+843C= (n.825+843C=) c.1179+481C= (n.1179+481C=) c.945+843C= c.*667+481C= (n.*667+481C=) n.6550+481C= n.1574+843C= n.1115+843C= | |
15 | g.72347205G>T | CA971330801 | HEXA | c.1073+843C>A (n.1073+843C>A) c.*808+481C>A (n.*808+481C>A) c.1189+481C>A (n.1189+481C>A) c.1252+481C>A (n.1252+481C>A) n.1466+481C>A c.*483+843C>A (n.*483+843C>A) c.*949+481C>A (n.*949+481C>A) c.*971+843C>A (n.*971+843C>A) c.1330+481C>A (n.1330+481C>A) c.1074-495C>A (n.1074-495C>A) n.1104+843C>A c.*1044+481C>A (n.*1044+481C>A) n.1177+481C>A c.1146+481C>A (n.1146+481C>A) n.1458C>A n.2912-495C>A c.*556+481C>A (n.*556+481C>A) c.*86+481C>A (n.*86+481C>A) c.1594+481C>A (n.1594+481C>A) c.*14-495C>A (n.*14-495C>A) c.*812+481C>A (n.*812+481C>A) c.1477+481C>A (n.1477+481C>A) c.413-880C>A (n.413-880C>A) c.825+843C>A (n.825+843C>A) c.1179+481C>A (n.1179+481C>A) c.945+843C>A c.*667+481C>A (n.*667+481C>A) n.6550+481C>A n.1574+843C>A n.1115+843C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347205_72347206insGTCTTTTTTTTTTTTTTTTT | CA2804700035 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAGAC (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAGAC) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAGAC (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAGAC) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAGAC (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAGAC) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAGAC (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAGAC) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAGAC c.*483+842_*483+843insAAAAAAAAAAAAAAAAAGAC (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAGAC) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAGAC (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAGAC) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAGAC (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAGAC) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAGAC (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAGAC) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAGAC (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAGAC) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAGAC c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAGAC (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAGAC) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAGAC c.1146+480_1146+481insAAAAAAAAAAAAAAAAAGAC (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAGAC) n.1457_1458insAAAAAAAAAAAAAAAAAGAC n.2912-496_2912-495insAAAAAAAAAAAAAAAAAGAC c.*556+480_*556+481insAAAAAAAAAAAAAAAAAGAC (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAGAC) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAGAC (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAGAC) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAGAC (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAGAC) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAGAC (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAGAC) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAGAC (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAGAC) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAGAC (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAGAC) c.413-881_413-880insAAAAAAAAAAAAAAAAAGAC (n.413-881_413-880insAAAAAAAAAAAAAAAAAGAC) c.825+842_825+843insAAAAAAAAAAAAAAAAAGAC (n.825+842_825+843insAAAAAAAAAAAAAAAAAGAC) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAGAC (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAGAC) c.945+842_945+843insAAAAAAAAAAAAAAAAAGAC c.*667+480_*667+481insAAAAAAAAAAAAAAAAAGAC (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAGAC) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAGAC n.1574+842_1574+843insAAAAAAAAAAAAAAAAAGAC n.1115+842_1115+843insAAAAAAAAAAAAAAAAAGAC | |
15 | g.72347207_72347208insTTTTTTTTTTTTTTT | CA971330808 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTT | CA2595819454 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAATAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTT | CA618766111 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAA | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTT | CA971330810 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAATAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTT | CA971330807 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTTT | CA2595819453 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAAATAA | gnomAD v3 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTT | CA971330806 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTTTT | CA2595819452 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAAAATAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTT | CA618766112 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insGTTTTTTTTTTTTTTTTTTT | CA2804700032 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAACAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAACAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAACAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAACAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAACAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAACAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAACAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAACAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAACAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAACAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAACAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAACAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAACAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAACAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAACAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAACAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAACAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAACAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAACAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAACAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAACAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAACAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAACAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAACAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAACAA) n.1457_1458insAAAAAAAAAAAAAAAAACAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAACAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAACAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAACAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAACAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAACAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAACAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAACAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAACAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAACAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAACAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAACAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAACAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAACAA) c.413-881_413-880insAAAAAAAAAAAAAAAAACAA (n.413-881_413-880insAAAAAAAAAAAAAAAAACAA) c.825+842_825+843insAAAAAAAAAAAAAAAAACAA (n.825+842_825+843insAAAAAAAAAAAAAAAAACAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAACAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAACAA) c.945+842_945+843insAAAAAAAAAAAAAAAAACAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAACAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAACAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAACAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAACAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAACAA | |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTTTTT | CA2186743990 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAATAA | dbSNP |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTTT | CA2595819451 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTTTT | CA971330805 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTTTTTTT | CA2730955041 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAATAA | dbSNP |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTTTTT | CA971330802 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTTTTTT | CA971330804 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTTTTTTTT | CA971330809 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAATAA | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTTTTTTTTT | CA2804700034 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAAATAA | |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTTTTTTT | CA971330803 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTTTTTTTT | CA618766116 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insATTTTTTTTTTTTTTTTTTTTTTTT | CA2804700037 | HEXA | c.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAATAA (n.1073+842_1073+843insAAAAAAAAAAAAAAAAAAAAAATAA) c.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.*808+480_*808+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.1189+480_1189+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.1252+480_1252+481insAAAAAAAAAAAAAAAAAAAAAATAA) n.1466+480_1466+481insAAAAAAAAAAAAAAAAAAAAAATAA c.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAATAA (n.*483+842_*483+843insAAAAAAAAAAAAAAAAAAAAAATAA) c.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.*949+480_*949+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAATAA (n.*971+842_*971+843insAAAAAAAAAAAAAAAAAAAAAATAA) c.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.1330+480_1330+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAATAA (n.1074-496_1074-495insAAAAAAAAAAAAAAAAAAAAAATAA) n.1104+842_1104+843insAAAAAAAAAAAAAAAAAAAAAATAA c.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.*1044+480_*1044+481insAAAAAAAAAAAAAAAAAAAAAATAA) n.1177+480_1177+481insAAAAAAAAAAAAAAAAAAAAAATAA c.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.1146+480_1146+481insAAAAAAAAAAAAAAAAAAAAAATAA) n.1457_1458insAAAAAAAAAAAAAAAAAAAAAATAA n.2912-496_2912-495insAAAAAAAAAAAAAAAAAAAAAATAA c.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.*556+480_*556+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.*86+480_*86+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.1594+480_1594+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAATAA (n.*14-496_*14-495insAAAAAAAAAAAAAAAAAAAAAATAA) c.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.*812+480_*812+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.1477+480_1477+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAATAA (n.413-881_413-880insAAAAAAAAAAAAAAAAAAAAAATAA) c.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAATAA (n.825+842_825+843insAAAAAAAAAAAAAAAAAAAAAATAA) c.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.1179+480_1179+481insAAAAAAAAAAAAAAAAAAAAAATAA) c.945+842_945+843insAAAAAAAAAAAAAAAAAAAAAATAA c.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAATAA (n.*667+480_*667+481insAAAAAAAAAAAAAAAAAAAAAATAA) n.6550+480_6550+481insAAAAAAAAAAAAAAAAAAAAAATAA n.1574+842_1574+843insAAAAAAAAAAAAAAAAAAAAAATAA n.1115+842_1115+843insAAAAAAAAAAAAAAAAAAAAAATAA | |
15 | g.72347207T>C | CA971330811 | HEXA | c.1073+841A>G (n.1073+841A>G) c.*808+479A>G (n.*808+479A>G) c.1189+479A>G (n.1189+479A>G) c.1252+479A>G (n.1252+479A>G) n.1466+479A>G c.*483+841A>G (n.*483+841A>G) c.*949+479A>G (n.*949+479A>G) c.*971+841A>G (n.*971+841A>G) c.1330+479A>G (n.1330+479A>G) c.1074-497A>G (n.1074-497A>G) n.1104+841A>G c.*1044+479A>G (n.*1044+479A>G) n.1177+479A>G c.1146+479A>G (n.1146+479A>G) n.1456A>G n.2912-497A>G c.*556+479A>G (n.*556+479A>G) c.*86+479A>G (n.*86+479A>G) c.1594+479A>G (n.1594+479A>G) c.*14-497A>G (n.*14-497A>G) c.*812+479A>G (n.*812+479A>G) c.1477+479A>G (n.1477+479A>G) c.413-882A>G (n.413-882A>G) c.825+841A>G (n.825+841A>G) c.1179+479A>G (n.1179+479A>G) c.945+841A>G c.*667+479A>G (n.*667+479A>G) n.6550+479A>G n.1574+841A>G n.1115+841A>G | gnomAD v3 gnomAD v4 |
15 | g.72347207_72347208insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA | CA971330812 | HEXA | c.1073+840_1073+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+840_1073+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+478_*808+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+478_*808+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+478_1189+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+478_1189+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+478_1252+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+478_1252+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+478_1466+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+840_*483+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+840_*483+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+478_*949+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+478_*949+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+840_*971+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+840_*971+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+478_1330+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+478_1330+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-498_1074-497insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-498_1074-497insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+840_1104+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+478_*1044+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+478_*1044+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+478_1177+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+478_1146+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+478_1146+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1455_1456insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-498_2912-497insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+478_*556+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+478_*556+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+478_*86+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+478_*86+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+478_1594+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+478_1594+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-498_*14-497insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-498_*14-497insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+478_*812+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+478_*812+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+478_1477+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+478_1477+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-883_413-882insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-883_413-882insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+840_825+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+840_825+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+478_1179+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+478_1179+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+840_945+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+478_*667+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+478_*667+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+478_6550+479insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+840_1574+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+840_1115+841insTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347208C>A | CA971330813 | HEXA | c.1073+840G>T (n.1073+840G>T) c.*808+478G>T (n.*808+478G>T) c.1189+478G>T (n.1189+478G>T) c.1252+478G>T (n.1252+478G>T) n.1466+478G>T c.*483+840G>T (n.*483+840G>T) c.*949+478G>T (n.*949+478G>T) c.*971+840G>T (n.*971+840G>T) c.1330+478G>T (n.1330+478G>T) c.1074-498G>T (n.1074-498G>T) n.1104+840G>T c.*1044+478G>T (n.*1044+478G>T) n.1177+478G>T c.1146+478G>T (n.1146+478G>T) n.1455G>T n.2912-498G>T c.*556+478G>T (n.*556+478G>T) c.*86+478G>T (n.*86+478G>T) c.1594+478G>T (n.1594+478G>T) c.*14-498G>T (n.*14-498G>T) c.*812+478G>T (n.*812+478G>T) c.1477+478G>T (n.1477+478G>T) c.413-883G>T (n.413-883G>T) c.825+840G>T (n.825+840G>T) c.1179+478G>T (n.1179+478G>T) c.945+840G>T c.*667+478G>T (n.*667+478G>T) n.6550+478G>T n.1574+840G>T n.1115+840G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347208C= | CA2186743991 | HEXA | c.1073+840G= (n.1073+840G=) c.*808+478G= (n.*808+478G=) c.1189+478G= (n.1189+478G=) c.1252+478G= (n.1252+478G=) n.1466+478G= c.*483+840G= (n.*483+840G=) c.*949+478G= (n.*949+478G=) c.*971+840G= (n.*971+840G=) c.1330+478G= (n.1330+478G=) c.1074-498G= (n.1074-498G=) n.1104+840G= c.*1044+478G= (n.*1044+478G=) n.1177+478G= c.1146+478G= (n.1146+478G=) n.1455G= n.2912-498G= c.*556+478G= (n.*556+478G=) c.*86+478G= (n.*86+478G=) c.1594+478G= (n.1594+478G=) c.*14-498G= (n.*14-498G=) c.*812+478G= (n.*812+478G=) c.1477+478G= (n.1477+478G=) c.413-883G= (n.413-883G=) c.825+840G= (n.825+840G=) c.1179+478G= (n.1179+478G=) c.945+840G= c.*667+478G= (n.*667+478G=) n.6550+478G= n.1574+840G= n.1115+840G= | |
15 | g.72347208C>T | CA618766119 | HEXA | c.1073+840G>A (n.1073+840G>A) c.*808+478G>A (n.*808+478G>A) c.1189+478G>A (n.1189+478G>A) c.1252+478G>A (n.1252+478G>A) n.1466+478G>A c.*483+840G>A (n.*483+840G>A) c.*949+478G>A (n.*949+478G>A) c.*971+840G>A (n.*971+840G>A) c.1330+478G>A (n.1330+478G>A) c.1074-498G>A (n.1074-498G>A) n.1104+840G>A c.*1044+478G>A (n.*1044+478G>A) n.1177+478G>A c.1146+478G>A (n.1146+478G>A) n.1455G>A n.2912-498G>A c.*556+478G>A (n.*556+478G>A) c.*86+478G>A (n.*86+478G>A) c.1594+478G>A (n.1594+478G>A) c.*14-498G>A (n.*14-498G>A) c.*812+478G>A (n.*812+478G>A) c.1477+478G>A (n.1477+478G>A) c.413-883G>A (n.413-883G>A) c.825+840G>A (n.825+840G>A) c.1179+478G>A (n.1179+478G>A) c.945+840G>A c.*667+478G>A (n.*667+478G>A) n.6550+478G>A n.1574+840G>A n.1115+840G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347208_72347209insGTTTT | CA2545380939 | HEXA | c.1073+839_1073+840insAAAAC (n.1073+839_1073+840insAAAAC) c.*808+477_*808+478insAAAAC (n.*808+477_*808+478insAAAAC) c.1189+477_1189+478insAAAAC (n.1189+477_1189+478insAAAAC) c.1252+477_1252+478insAAAAC (n.1252+477_1252+478insAAAAC) n.1466+477_1466+478insAAAAC c.*483+839_*483+840insAAAAC (n.*483+839_*483+840insAAAAC) c.*949+477_*949+478insAAAAC (n.*949+477_*949+478insAAAAC) c.*971+839_*971+840insAAAAC (n.*971+839_*971+840insAAAAC) c.1330+477_1330+478insAAAAC (n.1330+477_1330+478insAAAAC) c.1074-499_1074-498insAAAAC (n.1074-499_1074-498insAAAAC) n.1104+839_1104+840insAAAAC c.*1044+477_*1044+478insAAAAC (n.*1044+477_*1044+478insAAAAC) n.1177+477_1177+478insAAAAC c.1146+477_1146+478insAAAAC (n.1146+477_1146+478insAAAAC) n.1454_1455insAAAAC n.2912-499_2912-498insAAAAC c.*556+477_*556+478insAAAAC (n.*556+477_*556+478insAAAAC) c.*86+477_*86+478insAAAAC (n.*86+477_*86+478insAAAAC) c.1594+477_1594+478insAAAAC (n.1594+477_1594+478insAAAAC) c.*14-499_*14-498insAAAAC (n.*14-499_*14-498insAAAAC) c.*812+477_*812+478insAAAAC (n.*812+477_*812+478insAAAAC) c.1477+477_1477+478insAAAAC (n.1477+477_1477+478insAAAAC) c.413-884_413-883insAAAAC (n.413-884_413-883insAAAAC) c.825+839_825+840insAAAAC (n.825+839_825+840insAAAAC) c.1179+477_1179+478insAAAAC (n.1179+477_1179+478insAAAAC) c.945+839_945+840insAAAAC c.*667+477_*667+478insAAAAC (n.*667+477_*667+478insAAAAC) n.6550+477_6550+478insAAAAC n.1574+839_1574+840insAAAAC n.1115+839_1115+840insAAAAC | |
15 | g.72347208_72347209insATTTTT | CA2804700039 | HEXA | c.1073+839_1073+840insAAAAAT (n.1073+839_1073+840insAAAAAT) c.*808+477_*808+478insAAAAAT (n.*808+477_*808+478insAAAAAT) c.1189+477_1189+478insAAAAAT (n.1189+477_1189+478insAAAAAT) c.1252+477_1252+478insAAAAAT (n.1252+477_1252+478insAAAAAT) n.1466+477_1466+478insAAAAAT c.*483+839_*483+840insAAAAAT (n.*483+839_*483+840insAAAAAT) c.*949+477_*949+478insAAAAAT (n.*949+477_*949+478insAAAAAT) c.*971+839_*971+840insAAAAAT (n.*971+839_*971+840insAAAAAT) c.1330+477_1330+478insAAAAAT (n.1330+477_1330+478insAAAAAT) c.1074-499_1074-498insAAAAAT (n.1074-499_1074-498insAAAAAT) n.1104+839_1104+840insAAAAAT c.*1044+477_*1044+478insAAAAAT (n.*1044+477_*1044+478insAAAAAT) n.1177+477_1177+478insAAAAAT c.1146+477_1146+478insAAAAAT (n.1146+477_1146+478insAAAAAT) n.1454_1455insAAAAAT n.2912-499_2912-498insAAAAAT c.*556+477_*556+478insAAAAAT (n.*556+477_*556+478insAAAAAT) c.*86+477_*86+478insAAAAAT (n.*86+477_*86+478insAAAAAT) c.1594+477_1594+478insAAAAAT (n.1594+477_1594+478insAAAAAT) c.*14-499_*14-498insAAAAAT (n.*14-499_*14-498insAAAAAT) c.*812+477_*812+478insAAAAAT (n.*812+477_*812+478insAAAAAT) c.1477+477_1477+478insAAAAAT (n.1477+477_1477+478insAAAAAT) c.413-884_413-883insAAAAAT (n.413-884_413-883insAAAAAT) c.825+839_825+840insAAAAAT (n.825+839_825+840insAAAAAT) c.1179+477_1179+478insAAAAAT (n.1179+477_1179+478insAAAAAT) c.945+839_945+840insAAAAAT c.*667+477_*667+478insAAAAAT (n.*667+477_*667+478insAAAAAT) n.6550+477_6550+478insAAAAAT n.1574+839_1574+840insAAAAAT n.1115+839_1115+840insAAAAAT | |
15 | g.72347208_72347209insATTTTTT | CA2804700041 | HEXA | c.1073+839_1073+840insAAAAAAT (n.1073+839_1073+840insAAAAAAT) c.*808+477_*808+478insAAAAAAT (n.*808+477_*808+478insAAAAAAT) c.1189+477_1189+478insAAAAAAT (n.1189+477_1189+478insAAAAAAT) c.1252+477_1252+478insAAAAAAT (n.1252+477_1252+478insAAAAAAT) n.1466+477_1466+478insAAAAAAT c.*483+839_*483+840insAAAAAAT (n.*483+839_*483+840insAAAAAAT) c.*949+477_*949+478insAAAAAAT (n.*949+477_*949+478insAAAAAAT) c.*971+839_*971+840insAAAAAAT (n.*971+839_*971+840insAAAAAAT) c.1330+477_1330+478insAAAAAAT (n.1330+477_1330+478insAAAAAAT) c.1074-499_1074-498insAAAAAAT (n.1074-499_1074-498insAAAAAAT) n.1104+839_1104+840insAAAAAAT c.*1044+477_*1044+478insAAAAAAT (n.*1044+477_*1044+478insAAAAAAT) n.1177+477_1177+478insAAAAAAT c.1146+477_1146+478insAAAAAAT (n.1146+477_1146+478insAAAAAAT) n.1454_1455insAAAAAAT n.2912-499_2912-498insAAAAAAT c.*556+477_*556+478insAAAAAAT (n.*556+477_*556+478insAAAAAAT) c.*86+477_*86+478insAAAAAAT (n.*86+477_*86+478insAAAAAAT) c.1594+477_1594+478insAAAAAAT (n.1594+477_1594+478insAAAAAAT) c.*14-499_*14-498insAAAAAAT (n.*14-499_*14-498insAAAAAAT) c.*812+477_*812+478insAAAAAAT (n.*812+477_*812+478insAAAAAAT) c.1477+477_1477+478insAAAAAAT (n.1477+477_1477+478insAAAAAAT) c.413-884_413-883insAAAAAAT (n.413-884_413-883insAAAAAAT) c.825+839_825+840insAAAAAAT (n.825+839_825+840insAAAAAAT) c.1179+477_1179+478insAAAAAAT (n.1179+477_1179+478insAAAAAAT) c.945+839_945+840insAAAAAAT c.*667+477_*667+478insAAAAAAT (n.*667+477_*667+478insAAAAAAT) n.6550+477_6550+478insAAAAAAT n.1574+839_1574+840insAAAAAAT n.1115+839_1115+840insAAAAAAT | |
15 | g.72347208_72347209insATTTTTTTTTTTTT | CA971330814 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAT (n.1073+839_1073+840insAAAAAAAAAAAAAT) c.*808+477_*808+478insAAAAAAAAAAAAAT (n.*808+477_*808+478insAAAAAAAAAAAAAT) c.1189+477_1189+478insAAAAAAAAAAAAAT (n.1189+477_1189+478insAAAAAAAAAAAAAT) c.1252+477_1252+478insAAAAAAAAAAAAAT (n.1252+477_1252+478insAAAAAAAAAAAAAT) n.1466+477_1466+478insAAAAAAAAAAAAAT c.*483+839_*483+840insAAAAAAAAAAAAAT (n.*483+839_*483+840insAAAAAAAAAAAAAT) c.*949+477_*949+478insAAAAAAAAAAAAAT (n.*949+477_*949+478insAAAAAAAAAAAAAT) c.*971+839_*971+840insAAAAAAAAAAAAAT (n.*971+839_*971+840insAAAAAAAAAAAAAT) c.1330+477_1330+478insAAAAAAAAAAAAAT (n.1330+477_1330+478insAAAAAAAAAAAAAT) c.1074-499_1074-498insAAAAAAAAAAAAAT (n.1074-499_1074-498insAAAAAAAAAAAAAT) n.1104+839_1104+840insAAAAAAAAAAAAAT c.*1044+477_*1044+478insAAAAAAAAAAAAAT (n.*1044+477_*1044+478insAAAAAAAAAAAAAT) n.1177+477_1177+478insAAAAAAAAAAAAAT c.1146+477_1146+478insAAAAAAAAAAAAAT (n.1146+477_1146+478insAAAAAAAAAAAAAT) n.1454_1455insAAAAAAAAAAAAAT n.2912-499_2912-498insAAAAAAAAAAAAAT c.*556+477_*556+478insAAAAAAAAAAAAAT (n.*556+477_*556+478insAAAAAAAAAAAAAT) c.*86+477_*86+478insAAAAAAAAAAAAAT (n.*86+477_*86+478insAAAAAAAAAAAAAT) c.1594+477_1594+478insAAAAAAAAAAAAAT (n.1594+477_1594+478insAAAAAAAAAAAAAT) c.*14-499_*14-498insAAAAAAAAAAAAAT (n.*14-499_*14-498insAAAAAAAAAAAAAT) c.*812+477_*812+478insAAAAAAAAAAAAAT (n.*812+477_*812+478insAAAAAAAAAAAAAT) c.1477+477_1477+478insAAAAAAAAAAAAAT (n.1477+477_1477+478insAAAAAAAAAAAAAT) c.413-884_413-883insAAAAAAAAAAAAAT (n.413-884_413-883insAAAAAAAAAAAAAT) c.825+839_825+840insAAAAAAAAAAAAAT (n.825+839_825+840insAAAAAAAAAAAAAT) c.1179+477_1179+478insAAAAAAAAAAAAAT (n.1179+477_1179+478insAAAAAAAAAAAAAT) c.945+839_945+840insAAAAAAAAAAAAAT c.*667+477_*667+478insAAAAAAAAAAAAAT (n.*667+477_*667+478insAAAAAAAAAAAAAT) n.6550+477_6550+478insAAAAAAAAAAAAAT n.1574+839_1574+840insAAAAAAAAAAAAAT n.1115+839_1115+840insAAAAAAAAAAAAAT | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTT | CA2831810866 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTT | CA971330815 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTT | CA2731005592 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAAAAA | dbSNP |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTT | CA971330816 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTT | CA2731005594 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAAAAAAAA | dbSNP |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTT | CA2731005595 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAAAAAAAAA | dbSNP |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTT | CA2831810867 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTT | CA2595819455 | HEXA | c.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+839_1073+840insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+477_*808+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+477_1189+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+477_1252+478insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+477_1466+478insAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+839_*483+840insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+477_*949+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+839_*971+840insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+477_1330+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-499_1074-498insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+839_1104+840insAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+477_*1044+478insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+477_1177+478insAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+477_1146+478insAAAAAAAAAAAAAAAAAAAAAAAAA) n.1454_1455insAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-499_2912-498insAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+477_*556+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+477_*86+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+477_1594+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-499_*14-498insAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+477_*812+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+477_1477+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-884_413-883insAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-884_413-883insAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+839_825+840insAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+839_825+840insAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+477_1179+478insAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+839_945+840insAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+477_*667+478insAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+477_6550+478insAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+839_1574+840insAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+839_1115+840insAAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347210T>C | CA715464491 | HEXA | c.1073+838A>G (n.1073+838A>G) c.*808+476A>G (n.*808+476A>G) c.1189+476A>G (n.1189+476A>G) c.1252+476A>G (n.1252+476A>G) n.1466+476A>G c.*483+838A>G (n.*483+838A>G) c.*949+476A>G (n.*949+476A>G) c.*971+838A>G (n.*971+838A>G) c.1330+476A>G (n.1330+476A>G) c.1074-500A>G (n.1074-500A>G) n.1104+838A>G c.*1044+476A>G (n.*1044+476A>G) n.1177+476A>G c.1146+476A>G (n.1146+476A>G) n.1453A>G n.2912-500A>G c.*556+476A>G (n.*556+476A>G) c.*86+476A>G (n.*86+476A>G) c.1594+476A>G (n.1594+476A>G) c.*14-500A>G (n.*14-500A>G) c.*812+476A>G (n.*812+476A>G) c.1477+476A>G (n.1477+476A>G) c.413-885A>G (n.413-885A>G) c.825+838A>G (n.825+838A>G) c.1179+476A>G (n.1179+476A>G) c.945+838A>G c.*667+476A>G (n.*667+476A>G) n.6550+476A>G n.1574+838A>G n.1115+838A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347210T= | CA2186743992 | HEXA | c.1073+838A= (n.1073+838A=) c.*808+476A= (n.*808+476A=) c.1189+476A= (n.1189+476A=) c.1252+476A= (n.1252+476A=) n.1466+476A= c.*483+838A= (n.*483+838A=) c.*949+476A= (n.*949+476A=) c.*971+838A= (n.*971+838A=) c.1330+476A= (n.1330+476A=) c.1074-500A= (n.1074-500A=) n.1104+838A= c.*1044+476A= (n.*1044+476A=) n.1177+476A= c.1146+476A= (n.1146+476A=) n.1453A= n.2912-500A= c.*556+476A= (n.*556+476A=) c.*86+476A= (n.*86+476A=) c.1594+476A= (n.1594+476A=) c.*14-500A= (n.*14-500A=) c.*812+476A= (n.*812+476A=) c.1477+476A= (n.1477+476A=) c.413-885A= (n.413-885A=) c.825+838A= (n.825+838A=) c.1179+476A= (n.1179+476A=) c.945+838A= c.*667+476A= (n.*667+476A=) n.6550+476A= n.1574+838A= n.1115+838A= | |
15 | g.72347210_72347212delinsTAA | CA2186743994 | HEXA | c.1073+836_1073+838delinsTTA (n.1073+836_1073+838delinsTTA) c.*808+474_*808+476delinsTTA (n.*808+474_*808+476delinsTTA) c.1189+474_1189+476delinsTTA (n.1189+474_1189+476delinsTTA) c.1252+474_1252+476delinsTTA (n.1252+474_1252+476delinsTTA) n.1466+474_1466+476delinsTTA c.*483+836_*483+838delinsTTA (n.*483+836_*483+838delinsTTA) c.*949+474_*949+476delinsTTA (n.*949+474_*949+476delinsTTA) c.*971+836_*971+838delinsTTA (n.*971+836_*971+838delinsTTA) c.1330+474_1330+476delinsTTA (n.1330+474_1330+476delinsTTA) c.1074-502_1074-500delinsTTA (n.1074-502_1074-500delinsTTA) n.1104+836_1104+838delinsTTA c.*1044+474_*1044+476delinsTTA (n.*1044+474_*1044+476delinsTTA) n.1177+474_1177+476delinsTTA c.1146+474_1146+476delinsTTA (n.1146+474_1146+476delinsTTA) n.1451_1453delinsTTA n.2912-502_2912-500delinsTTA c.*556+474_*556+476delinsTTA (n.*556+474_*556+476delinsTTA) c.*86+474_*86+476delinsTTA (n.*86+474_*86+476delinsTTA) c.1594+474_1594+476delinsTTA (n.1594+474_1594+476delinsTTA) c.*14-502_*14-500delinsTTA (n.*14-502_*14-500delinsTTA) c.*812+474_*812+476delinsTTA (n.*812+474_*812+476delinsTTA) c.1477+474_1477+476delinsTTA (n.1477+474_1477+476delinsTTA) c.413-887_413-885delinsTTA (n.413-887_413-885delinsTTA) c.825+836_825+838delinsTTA (n.825+836_825+838delinsTTA) c.1179+474_1179+476delinsTTA (n.1179+474_1179+476delinsTTA) c.945+836_945+838delinsTTA c.*667+474_*667+476delinsTTA (n.*667+474_*667+476delinsTTA) n.6550+474_6550+476delinsTTA n.1574+836_1574+838delinsTTA n.1115+836_1115+838delinsTTA | |
15 | g.72347210_72347217delinsTAATTAAG | CA2186743993 | HEXA | c.1073+831_1073+838delinsCTTAATTA (n.1073+831_1073+838delinsCTTAATTA) c.*808+469_*808+476delinsCTTAATTA (n.*808+469_*808+476delinsCTTAATTA) c.1189+469_1189+476delinsCTTAATTA (n.1189+469_1189+476delinsCTTAATTA) c.1252+469_1252+476delinsCTTAATTA (n.1252+469_1252+476delinsCTTAATTA) n.1466+469_1466+476delinsCTTAATTA c.*483+831_*483+838delinsCTTAATTA (n.*483+831_*483+838delinsCTTAATTA) c.*949+469_*949+476delinsCTTAATTA (n.*949+469_*949+476delinsCTTAATTA) c.*971+831_*971+838delinsCTTAATTA (n.*971+831_*971+838delinsCTTAATTA) c.1330+469_1330+476delinsCTTAATTA (n.1330+469_1330+476delinsCTTAATTA) c.1074-507_1074-500delinsCTTAATTA (n.1074-507_1074-500delinsCTTAATTA) n.1104+831_1104+838delinsCTTAATTA c.*1044+469_*1044+476delinsCTTAATTA (n.*1044+469_*1044+476delinsCTTAATTA) n.1177+469_1177+476delinsCTTAATTA c.1146+469_1146+476delinsCTTAATTA (n.1146+469_1146+476delinsCTTAATTA) n.1446_1453delinsCTTAATTA n.2912-507_2912-500delinsCTTAATTA c.*556+469_*556+476delinsCTTAATTA (n.*556+469_*556+476delinsCTTAATTA) c.*86+469_*86+476delinsCTTAATTA (n.*86+469_*86+476delinsCTTAATTA) c.1594+469_1594+476delinsCTTAATTA (n.1594+469_1594+476delinsCTTAATTA) c.*14-507_*14-500delinsCTTAATTA (n.*14-507_*14-500delinsCTTAATTA) c.*812+469_*812+476delinsCTTAATTA (n.*812+469_*812+476delinsCTTAATTA) c.1477+469_1477+476delinsCTTAATTA (n.1477+469_1477+476delinsCTTAATTA) c.413-892_413-885delinsCTTAATTA (n.413-892_413-885delinsCTTAATTA) c.825+831_825+838delinsCTTAATTA (n.825+831_825+838delinsCTTAATTA) c.1179+469_1179+476delinsCTTAATTA (n.1179+469_1179+476delinsCTTAATTA) c.945+831_945+838delinsCTTAATTA c.*667+469_*667+476delinsCTTAATTA (n.*667+469_*667+476delinsCTTAATTA) n.6550+469_6550+476delinsCTTAATTA n.1574+831_1574+838delinsCTTAATTA n.1115+831_1115+838delinsCTTAATTA | |
15 | g.72347210_72347211insTTTTTTTTTTTTGAG | CA971330836 | HEXA | c.1073+837_1073+838insCTCAAAAAAAAAAAA (n.1073+837_1073+838insCTCAAAAAAAAAAAA) c.*808+475_*808+476insCTCAAAAAAAAAAAA (n.*808+475_*808+476insCTCAAAAAAAAAAAA) c.1189+475_1189+476insCTCAAAAAAAAAAAA (n.1189+475_1189+476insCTCAAAAAAAAAAAA) c.1252+475_1252+476insCTCAAAAAAAAAAAA (n.1252+475_1252+476insCTCAAAAAAAAAAAA) n.1466+475_1466+476insCTCAAAAAAAAAAAA c.*483+837_*483+838insCTCAAAAAAAAAAAA (n.*483+837_*483+838insCTCAAAAAAAAAAAA) c.*949+475_*949+476insCTCAAAAAAAAAAAA (n.*949+475_*949+476insCTCAAAAAAAAAAAA) c.*971+837_*971+838insCTCAAAAAAAAAAAA (n.*971+837_*971+838insCTCAAAAAAAAAAAA) c.1330+475_1330+476insCTCAAAAAAAAAAAA (n.1330+475_1330+476insCTCAAAAAAAAAAAA) c.1074-501_1074-500insCTCAAAAAAAAAAAA (n.1074-501_1074-500insCTCAAAAAAAAAAAA) n.1104+837_1104+838insCTCAAAAAAAAAAAA c.*1044+475_*1044+476insCTCAAAAAAAAAAAA (n.*1044+475_*1044+476insCTCAAAAAAAAAAAA) n.1177+475_1177+476insCTCAAAAAAAAAAAA c.1146+475_1146+476insCTCAAAAAAAAAAAA (n.1146+475_1146+476insCTCAAAAAAAAAAAA) n.1452_1453insCTCAAAAAAAAAAAA n.2912-501_2912-500insCTCAAAAAAAAAAAA c.*556+475_*556+476insCTCAAAAAAAAAAAA (n.*556+475_*556+476insCTCAAAAAAAAAAAA) c.*86+475_*86+476insCTCAAAAAAAAAAAA (n.*86+475_*86+476insCTCAAAAAAAAAAAA) c.1594+475_1594+476insCTCAAAAAAAAAAAA (n.1594+475_1594+476insCTCAAAAAAAAAAAA) c.*14-501_*14-500insCTCAAAAAAAAAAAA (n.*14-501_*14-500insCTCAAAAAAAAAAAA) c.*812+475_*812+476insCTCAAAAAAAAAAAA (n.*812+475_*812+476insCTCAAAAAAAAAAAA) c.1477+475_1477+476insCTCAAAAAAAAAAAA (n.1477+475_1477+476insCTCAAAAAAAAAAAA) c.413-886_413-885insCTCAAAAAAAAAAAA (n.413-886_413-885insCTCAAAAAAAAAAAA) c.825+837_825+838insCTCAAAAAAAAAAAA (n.825+837_825+838insCTCAAAAAAAAAAAA) c.1179+475_1179+476insCTCAAAAAAAAAAAA (n.1179+475_1179+476insCTCAAAAAAAAAAAA) c.945+837_945+838insCTCAAAAAAAAAAAA c.*667+475_*667+476insCTCAAAAAAAAAAAA (n.*667+475_*667+476insCTCAAAAAAAAAAAA) n.6550+475_6550+476insCTCAAAAAAAAAAAA n.1574+837_1574+838insCTCAAAAAAAAAAAA n.1115+837_1115+838insCTCAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTG | CA971330835 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTG | CA2515230165 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTG | CA971330830 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTGAG | CA971330834 | HEXA | c.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCTCAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCTCAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCTCAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCTCAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCTCAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCTCAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCTCAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCTCAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCTCAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTG | CA618766143 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTGAG | CA971330831 | HEXA | c.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCTCAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCTCAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCTCAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCTCAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCTCAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCTCAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCTCAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCTCAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCTCAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTGAG | CA971330829 | HEXA | c.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCTCAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCTCAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCTCAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTG | CA618766149 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTGG | CA971330827 | HEXA | c.1073+837_1073+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTA | CA2804700051 | HEXA | c.1073+837_1073+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insTAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insTAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insTAAAAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTGTG | CA2804700050 | HEXA | c.1073+837_1073+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCACAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCACAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCACAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCACAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCACAAAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTTG | CA971330819 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTGAGACGG | CA971330826 | HEXA | c.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCGTCTCAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTAG | CA971330833 | HEXA | c.1073+837_1073+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCTAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTGAG | CA618766147 | HEXA | c.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTGAGACGG | CA971330832 | HEXA | c.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTGAG | CA971330817 | HEXA | c.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTG | CA971330822 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG | CA971330820 | HEXA | c.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG | CA2548138515 | HEXA | c.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG | CA971330823 | HEXA | c.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG | CA971330828 | HEXA | c.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAAGG | CA2832327837 | HEXA | c.1073+837_1073+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG | CA618766151 | HEXA | c.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTATAAGG | CA2804700049 | HEXA | c.1073+837_1073+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCTTATAAAAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG | CA971330818 | HEXA | c.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG | CA971330821 | HEXA | c.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+837_1073+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+475_*808+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+475_1189+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+475_1252+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+475_1466+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+837_*483+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+475_*949+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+837_*971+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+475_1330+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-501_1074-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+837_1104+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+475_*1044+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+475_1177+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+475_1146+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1452_1453insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-501_2912-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+475_*556+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+475_*86+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+475_1594+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-501_*14-500insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+475_*812+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+475_1477+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-886_413-885insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+837_825+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+475_1179+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+837_945+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+475_*667+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+475_6550+476insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+837_1574+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+837_1115+838insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347211A= | CA2186743995 | HEXA | c.1073+837T= (n.1073+837T=) c.*808+475T= (n.*808+475T=) c.1189+475T= (n.1189+475T=) c.1252+475T= (n.1252+475T=) n.1466+475T= c.*483+837T= (n.*483+837T=) c.*949+475T= (n.*949+475T=) c.*971+837T= (n.*971+837T=) c.1330+475T= (n.1330+475T=) c.1074-501T= (n.1074-501T=) n.1104+837T= c.*1044+475T= (n.*1044+475T=) n.1177+475T= c.1146+475T= (n.1146+475T=) n.1452T= n.2912-501T= c.*556+475T= (n.*556+475T=) c.*86+475T= (n.*86+475T=) c.1594+475T= (n.1594+475T=) c.*14-501T= (n.*14-501T=) c.*812+475T= (n.*812+475T=) c.1477+475T= (n.1477+475T=) c.413-886T= (n.413-886T=) c.825+837T= (n.825+837T=) c.1179+475T= (n.1179+475T=) c.945+837T= c.*667+475T= (n.*667+475T=) n.6550+475T= n.1574+837T= n.1115+837T= | |
15 | g.72347211A>C | CA971330824 | HEXA | c.1073+837T>G (n.1073+837T>G) c.*808+475T>G (n.*808+475T>G) c.1189+475T>G (n.1189+475T>G) c.1252+475T>G (n.1252+475T>G) n.1466+475T>G c.*483+837T>G (n.*483+837T>G) c.*949+475T>G (n.*949+475T>G) c.*971+837T>G (n.*971+837T>G) c.1330+475T>G (n.1330+475T>G) c.1074-501T>G (n.1074-501T>G) n.1104+837T>G c.*1044+475T>G (n.*1044+475T>G) n.1177+475T>G c.1146+475T>G (n.1146+475T>G) n.1452T>G n.2912-501T>G c.*556+475T>G (n.*556+475T>G) c.*86+475T>G (n.*86+475T>G) c.1594+475T>G (n.1594+475T>G) c.*14-501T>G (n.*14-501T>G) c.*812+475T>G (n.*812+475T>G) c.1477+475T>G (n.1477+475T>G) c.413-886T>G (n.413-886T>G) c.825+837T>G (n.825+837T>G) c.1179+475T>G (n.1179+475T>G) c.945+837T>G c.*667+475T>G (n.*667+475T>G) n.6550+475T>G n.1574+837T>G n.1115+837T>G | gnomAD v3 gnomAD v4 |
15 | g.72347211A>G | CA971330825 | HEXA | c.1073+837T>C (n.1073+837T>C) c.*808+475T>C (n.*808+475T>C) c.1189+475T>C (n.1189+475T>C) c.1252+475T>C (n.1252+475T>C) n.1466+475T>C c.*483+837T>C (n.*483+837T>C) c.*949+475T>C (n.*949+475T>C) c.*971+837T>C (n.*971+837T>C) c.1330+475T>C (n.1330+475T>C) c.1074-501T>C (n.1074-501T>C) n.1104+837T>C c.*1044+475T>C (n.*1044+475T>C) n.1177+475T>C c.1146+475T>C (n.1146+475T>C) n.1452T>C n.2912-501T>C c.*556+475T>C (n.*556+475T>C) c.*86+475T>C (n.*86+475T>C) c.1594+475T>C (n.1594+475T>C) c.*14-501T>C (n.*14-501T>C) c.*812+475T>C (n.*812+475T>C) c.1477+475T>C (n.1477+475T>C) c.413-886T>C (n.413-886T>C) c.825+837T>C (n.825+837T>C) c.1179+475T>C (n.1179+475T>C) c.945+837T>C c.*667+475T>C (n.*667+475T>C) n.6550+475T>C n.1574+837T>C n.1115+837T>C | gnomAD v3 gnomAD v4 |
15 | g.72347211A>T | CA272610590 | HEXA | c.1073+837T>A (n.1073+837T>A) c.*808+475T>A (n.*808+475T>A) c.1189+475T>A (n.1189+475T>A) c.1252+475T>A (n.1252+475T>A) n.1466+475T>A c.*483+837T>A (n.*483+837T>A) c.*949+475T>A (n.*949+475T>A) c.*971+837T>A (n.*971+837T>A) c.1330+475T>A (n.1330+475T>A) c.1074-501T>A (n.1074-501T>A) n.1104+837T>A c.*1044+475T>A (n.*1044+475T>A) n.1177+475T>A c.1146+475T>A (n.1146+475T>A) n.1452T>A n.2912-501T>A c.*556+475T>A (n.*556+475T>A) c.*86+475T>A (n.*86+475T>A) c.1594+475T>A (n.1594+475T>A) c.*14-501T>A (n.*14-501T>A) c.*812+475T>A (n.*812+475T>A) c.1477+475T>A (n.1477+475T>A) c.413-886T>A (n.413-886T>A) c.825+837T>A (n.825+837T>A) c.1179+475T>A (n.1179+475T>A) c.945+837T>A c.*667+475T>A (n.*667+475T>A) n.6550+475T>A n.1574+837T>A n.1115+837T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347211_72347212del | CA618766124 | HEXA | c.1073+836_1073+837del (n.1073+836_1073+837del) c.*808+474_*808+475del (n.*808+474_*808+475del) c.1189+474_1189+475del (n.1189+474_1189+475del) c.1252+474_1252+475del (n.1252+474_1252+475del) n.1466+474_1466+475del c.*483+836_*483+837del (n.*483+836_*483+837del) c.*949+474_*949+475del (n.*949+474_*949+475del) c.*971+836_*971+837del (n.*971+836_*971+837del) c.1330+474_1330+475del (n.1330+474_1330+475del) c.1074-502_1074-501del (n.1074-502_1074-501del) n.1104+836_1104+837del c.*1044+474_*1044+475del (n.*1044+474_*1044+475del) n.1177+474_1177+475del c.1146+474_1146+475del (n.1146+474_1146+475del) n.1451_1452del n.2912-502_2912-501del c.*556+474_*556+475del (n.*556+474_*556+475del) c.*86+474_*86+475del (n.*86+474_*86+475del) c.1594+474_1594+475del (n.1594+474_1594+475del) c.*14-502_*14-501del (n.*14-502_*14-501del) c.*812+474_*812+475del (n.*812+474_*812+475del) c.1477+474_1477+475del (n.1477+474_1477+475del) c.413-887_413-886del (n.413-887_413-886del) c.825+836_825+837del (n.825+836_825+837del) c.1179+474_1179+475del (n.1179+474_1179+475del) c.945+836_945+837del c.*667+474_*667+475del (n.*667+474_*667+475del) n.6550+474_6550+475del n.1574+836_1574+837del n.1115+836_1115+837del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347211_72347217del | CA618766153 | HEXA | c.1073+831_1073+837del (n.1073+831_1073+837del) c.*808+469_*808+475del (n.*808+469_*808+475del) c.1189+469_1189+475del (n.1189+469_1189+475del) c.1252+469_1252+475del (n.1252+469_1252+475del) n.1466+469_1466+475del c.*483+831_*483+837del (n.*483+831_*483+837del) c.*949+469_*949+475del (n.*949+469_*949+475del) c.*971+831_*971+837del (n.*971+831_*971+837del) c.1330+469_1330+475del (n.1330+469_1330+475del) c.1074-507_1074-501del (n.1074-507_1074-501del) n.1104+831_1104+837del c.*1044+469_*1044+475del (n.*1044+469_*1044+475del) n.1177+469_1177+475del c.1146+469_1146+475del (n.1146+469_1146+475del) n.1446_1452del n.2912-507_2912-501del c.*556+469_*556+475del (n.*556+469_*556+475del) c.*86+469_*86+475del (n.*86+469_*86+475del) c.1594+469_1594+475del (n.1594+469_1594+475del) c.*14-507_*14-501del (n.*14-507_*14-501del) c.*812+469_*812+475del (n.*812+469_*812+475del) c.1477+469_1477+475del (n.1477+469_1477+475del) c.413-892_413-886del (n.413-892_413-886del) c.825+831_825+837del (n.825+831_825+837del) c.1179+469_1179+475del (n.1179+469_1179+475del) c.945+831_945+837del c.*667+469_*667+475del (n.*667+469_*667+475del) n.6550+469_6550+475del n.1574+831_1574+837del n.1115+831_1115+837del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347211_72347212insG | CA618766154 | HEXA | c.1073+836_1073+837insC (n.1073+836_1073+837insC) c.*808+474_*808+475insC (n.*808+474_*808+475insC) c.1189+474_1189+475insC (n.1189+474_1189+475insC) c.1252+474_1252+475insC (n.1252+474_1252+475insC) n.1466+474_1466+475insC c.*483+836_*483+837insC (n.*483+836_*483+837insC) c.*949+474_*949+475insC (n.*949+474_*949+475insC) c.*971+836_*971+837insC (n.*971+836_*971+837insC) c.1330+474_1330+475insC (n.1330+474_1330+475insC) c.1074-502_1074-501insC (n.1074-502_1074-501insC) n.1104+836_1104+837insC c.*1044+474_*1044+475insC (n.*1044+474_*1044+475insC) n.1177+474_1177+475insC c.1146+474_1146+475insC (n.1146+474_1146+475insC) n.1451_1452insC n.2912-502_2912-501insC c.*556+474_*556+475insC (n.*556+474_*556+475insC) c.*86+474_*86+475insC (n.*86+474_*86+475insC) c.1594+474_1594+475insC (n.1594+474_1594+475insC) c.*14-502_*14-501insC (n.*14-502_*14-501insC) c.*812+474_*812+475insC (n.*812+474_*812+475insC) c.1477+474_1477+475insC (n.1477+474_1477+475insC) c.413-887_413-886insC (n.413-887_413-886insC) c.825+836_825+837insC (n.825+836_825+837insC) c.1179+474_1179+475insC (n.1179+474_1179+475insC) c.945+836_945+837insC c.*667+474_*667+475insC (n.*667+474_*667+475insC) n.6550+474_6550+475insC n.1574+836_1574+837insC n.1115+836_1115+837insC | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347212A= | CA2186743996 | HEXA | c.1073+836T= (n.1073+836T=) c.*808+474T= (n.*808+474T=) c.1189+474T= (n.1189+474T=) c.1252+474T= (n.1252+474T=) n.1466+474T= c.*483+836T= (n.*483+836T=) c.*949+474T= (n.*949+474T=) c.*971+836T= (n.*971+836T=) c.1330+474T= (n.1330+474T=) c.1074-502T= (n.1074-502T=) n.1104+836T= c.*1044+474T= (n.*1044+474T=) n.1177+474T= c.1146+474T= (n.1146+474T=) n.1451T= n.2912-502T= c.*556+474T= (n.*556+474T=) c.*86+474T= (n.*86+474T=) c.1594+474T= (n.1594+474T=) c.*14-502T= (n.*14-502T=) c.*812+474T= (n.*812+474T=) c.1477+474T= (n.1477+474T=) c.413-887T= (n.413-887T=) c.825+836T= (n.825+836T=) c.1179+474T= (n.1179+474T=) c.945+836T= c.*667+474T= (n.*667+474T=) n.6550+474T= n.1574+836T= n.1115+836T= | |
15 | g.72347212A>C | CA2804700057 | HEXA | c.1073+836T>G (n.1073+836T>G) c.*808+474T>G (n.*808+474T>G) c.1189+474T>G (n.1189+474T>G) c.1252+474T>G (n.1252+474T>G) n.1466+474T>G c.*483+836T>G (n.*483+836T>G) c.*949+474T>G (n.*949+474T>G) c.*971+836T>G (n.*971+836T>G) c.1330+474T>G (n.1330+474T>G) c.1074-502T>G (n.1074-502T>G) n.1104+836T>G c.*1044+474T>G (n.*1044+474T>G) n.1177+474T>G c.1146+474T>G (n.1146+474T>G) n.1451T>G n.2912-502T>G c.*556+474T>G (n.*556+474T>G) c.*86+474T>G (n.*86+474T>G) c.1594+474T>G (n.1594+474T>G) c.*14-502T>G (n.*14-502T>G) c.*812+474T>G (n.*812+474T>G) c.1477+474T>G (n.1477+474T>G) c.413-887T>G (n.413-887T>G) c.825+836T>G (n.825+836T>G) c.1179+474T>G (n.1179+474T>G) c.945+836T>G c.*667+474T>G (n.*667+474T>G) n.6550+474T>G n.1574+836T>G n.1115+836T>G | |
15 | g.72347212A>T | CA272610591 | HEXA | c.1073+836T>A (n.1073+836T>A) c.*808+474T>A (n.*808+474T>A) c.1189+474T>A (n.1189+474T>A) c.1252+474T>A (n.1252+474T>A) n.1466+474T>A c.*483+836T>A (n.*483+836T>A) c.*949+474T>A (n.*949+474T>A) c.*971+836T>A (n.*971+836T>A) c.1330+474T>A (n.1330+474T>A) c.1074-502T>A (n.1074-502T>A) n.1104+836T>A c.*1044+474T>A (n.*1044+474T>A) n.1177+474T>A c.1146+474T>A (n.1146+474T>A) n.1451T>A n.2912-502T>A c.*556+474T>A (n.*556+474T>A) c.*86+474T>A (n.*86+474T>A) c.1594+474T>A (n.1594+474T>A) c.*14-502T>A (n.*14-502T>A) c.*812+474T>A (n.*812+474T>A) c.1477+474T>A (n.1477+474T>A) c.413-887T>A (n.413-887T>A) c.825+836T>A (n.825+836T>A) c.1179+474T>A (n.1179+474T>A) c.945+836T>A c.*667+474T>A (n.*667+474T>A) n.6550+474T>A n.1574+836T>A n.1115+836T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347214T= | CA2186743999 | HEXA | c.1073+834A= (n.1073+834A=) c.*808+472A= (n.*808+472A=) c.1189+472A= (n.1189+472A=) c.1252+472A= (n.1252+472A=) n.1466+472A= c.*483+834A= (n.*483+834A=) c.*949+472A= (n.*949+472A=) c.*971+834A= (n.*971+834A=) c.1330+472A= (n.1330+472A=) c.1074-504A= (n.1074-504A=) n.1104+834A= c.*1044+472A= (n.*1044+472A=) n.1177+472A= c.1146+472A= (n.1146+472A=) n.1449A= n.2912-504A= c.*556+472A= (n.*556+472A=) c.*86+472A= (n.*86+472A=) c.1594+472A= (n.1594+472A=) c.*14-504A= (n.*14-504A=) c.*812+472A= (n.*812+472A=) c.1477+472A= (n.1477+472A=) c.413-889A= (n.413-889A=) c.825+834A= (n.825+834A=) c.1179+472A= (n.1179+472A=) c.945+834A= c.*667+472A= (n.*667+472A=) n.6550+472A= n.1574+834A= n.1115+834A= | |
15 | g.72347214_72347216delinsTAA | CA2186743998 | HEXA | c.1073+832_1073+834delinsTTA (n.1073+832_1073+834delinsTTA) c.*808+470_*808+472delinsTTA (n.*808+470_*808+472delinsTTA) c.1189+470_1189+472delinsTTA (n.1189+470_1189+472delinsTTA) c.1252+470_1252+472delinsTTA (n.1252+470_1252+472delinsTTA) n.1466+470_1466+472delinsTTA c.*483+832_*483+834delinsTTA (n.*483+832_*483+834delinsTTA) c.*949+470_*949+472delinsTTA (n.*949+470_*949+472delinsTTA) c.*971+832_*971+834delinsTTA (n.*971+832_*971+834delinsTTA) c.1330+470_1330+472delinsTTA (n.1330+470_1330+472delinsTTA) c.1074-506_1074-504delinsTTA (n.1074-506_1074-504delinsTTA) n.1104+832_1104+834delinsTTA c.*1044+470_*1044+472delinsTTA (n.*1044+470_*1044+472delinsTTA) n.1177+470_1177+472delinsTTA c.1146+470_1146+472delinsTTA (n.1146+470_1146+472delinsTTA) n.1447_1449delinsTTA n.2912-506_2912-504delinsTTA c.*556+470_*556+472delinsTTA (n.*556+470_*556+472delinsTTA) c.*86+470_*86+472delinsTTA (n.*86+470_*86+472delinsTTA) c.1594+470_1594+472delinsTTA (n.1594+470_1594+472delinsTTA) c.*14-506_*14-504delinsTTA (n.*14-506_*14-504delinsTTA) c.*812+470_*812+472delinsTTA (n.*812+470_*812+472delinsTTA) c.1477+470_1477+472delinsTTA (n.1477+470_1477+472delinsTTA) c.413-891_413-889delinsTTA (n.413-891_413-889delinsTTA) c.825+832_825+834delinsTTA (n.825+832_825+834delinsTTA) c.1179+470_1179+472delinsTTA (n.1179+470_1179+472delinsTTA) c.945+832_945+834delinsTTA c.*667+470_*667+472delinsTTA (n.*667+470_*667+472delinsTTA) n.6550+470_6550+472delinsTTA n.1574+832_1574+834delinsTTA n.1115+832_1115+834delinsTTA | |
15 | g.72347214_72347217delinsTAAG | CA2186743997 | HEXA | c.1073+831_1073+834delinsCTTA (n.1073+831_1073+834delinsCTTA) c.*808+469_*808+472delinsCTTA (n.*808+469_*808+472delinsCTTA) c.1189+469_1189+472delinsCTTA (n.1189+469_1189+472delinsCTTA) c.1252+469_1252+472delinsCTTA (n.1252+469_1252+472delinsCTTA) n.1466+469_1466+472delinsCTTA c.*483+831_*483+834delinsCTTA (n.*483+831_*483+834delinsCTTA) c.*949+469_*949+472delinsCTTA (n.*949+469_*949+472delinsCTTA) c.*971+831_*971+834delinsCTTA (n.*971+831_*971+834delinsCTTA) c.1330+469_1330+472delinsCTTA (n.1330+469_1330+472delinsCTTA) c.1074-507_1074-504delinsCTTA (n.1074-507_1074-504delinsCTTA) n.1104+831_1104+834delinsCTTA c.*1044+469_*1044+472delinsCTTA (n.*1044+469_*1044+472delinsCTTA) n.1177+469_1177+472delinsCTTA c.1146+469_1146+472delinsCTTA (n.1146+469_1146+472delinsCTTA) n.1446_1449delinsCTTA n.2912-507_2912-504delinsCTTA c.*556+469_*556+472delinsCTTA (n.*556+469_*556+472delinsCTTA) c.*86+469_*86+472delinsCTTA (n.*86+469_*86+472delinsCTTA) c.1594+469_1594+472delinsCTTA (n.1594+469_1594+472delinsCTTA) c.*14-507_*14-504delinsCTTA (n.*14-507_*14-504delinsCTTA) c.*812+469_*812+472delinsCTTA (n.*812+469_*812+472delinsCTTA) c.1477+469_1477+472delinsCTTA (n.1477+469_1477+472delinsCTTA) c.413-892_413-889delinsCTTA (n.413-892_413-889delinsCTTA) c.825+831_825+834delinsCTTA (n.825+831_825+834delinsCTTA) c.1179+469_1179+472delinsCTTA (n.1179+469_1179+472delinsCTTA) c.945+831_945+834delinsCTTA c.*667+469_*667+472delinsCTTA (n.*667+469_*667+472delinsCTTA) n.6550+469_6550+472delinsCTTA n.1574+831_1574+834delinsCTTA n.1115+831_1115+834delinsCTTA | |
15 | g.72347215_72347284del | CA618766157 | HEXA | c.1073+765_1073+834del (n.1073+765_1073+834del) c.*808+403_*808+472del (n.*808+403_*808+472del) c.1189+403_1189+472del (n.1189+403_1189+472del) c.1252+403_1252+472del (n.1252+403_1252+472del) n.1466+403_1466+472del c.*483+765_*483+834del (n.*483+765_*483+834del) c.*949+403_*949+472del (n.*949+403_*949+472del) c.*971+765_*971+834del (n.*971+765_*971+834del) c.1330+403_1330+472del (n.1330+403_1330+472del) c.1074-573_1074-504del (n.1074-573_1074-504del) n.1104+765_1104+834del c.*1044+403_*1044+472del (n.*1044+403_*1044+472del) n.1177+403_1177+472del c.1146+403_1146+472del (n.1146+403_1146+472del) n.1380_1449del n.2912-573_2912-504del c.*556+403_*556+472del (n.*556+403_*556+472del) c.*86+403_*86+472del (n.*86+403_*86+472del) c.1594+403_1594+472del (n.1594+403_1594+472del) c.*14-573_*14-504del (n.*14-573_*14-504del) c.*812+403_*812+472del (n.*812+403_*812+472del) c.1477+403_1477+472del (n.1477+403_1477+472del) c.413-958_413-889del (n.413-958_413-889del) c.825+765_825+834del (n.825+765_825+834del) c.1179+403_1179+472del (n.1179+403_1179+472del) c.945+765_945+834del c.*667+403_*667+472del (n.*667+403_*667+472del) n.6550+403_6550+472del n.1574+765_1574+834del n.1115+765_1115+834del | gnomAD v2 |
15 | g.72347214_72347215insTTTTTTTTTTTTTTTTTTTTG | CA971330837 | HEXA | c.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAA (n.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAA) c.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAA (n.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAA) c.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAA (n.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAA) c.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAA (n.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAA) n.1466+471_1466+472insCAAAAAAAAAAAAAAAAAAAA c.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAA (n.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAA) c.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAA (n.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAA) c.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAA (n.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAA) c.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAA (n.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAA) c.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAA (n.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAA) n.1104+833_1104+834insCAAAAAAAAAAAAAAAAAAAA c.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAA (n.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAA) n.1177+471_1177+472insCAAAAAAAAAAAAAAAAAAAA c.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAA (n.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAA) n.1448_1449insCAAAAAAAAAAAAAAAAAAAA n.2912-505_2912-504insCAAAAAAAAAAAAAAAAAAAA c.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAA (n.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAA) c.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAA (n.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAA) c.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAA (n.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAA) c.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAA (n.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAA) c.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAA (n.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAA) c.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAA (n.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAA) c.413-890_413-889insCAAAAAAAAAAAAAAAAAAAA (n.413-890_413-889insCAAAAAAAAAAAAAAAAAAAA) c.825+833_825+834insCAAAAAAAAAAAAAAAAAAAA (n.825+833_825+834insCAAAAAAAAAAAAAAAAAAAA) c.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAA (n.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAA) c.945+833_945+834insCAAAAAAAAAAAAAAAAAAAA c.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAA (n.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAA) n.6550+471_6550+472insCAAAAAAAAAAAAAAAAAAAA n.1574+833_1574+834insCAAAAAAAAAAAAAAAAAAAA n.1115+833_1115+834insCAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347214_72347215insTTTTTTTTTTTTTTTTTTTTTTG | CA971330838 | HEXA | c.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAA (n.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAA) c.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAA (n.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAA) c.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAA (n.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAA) c.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAA (n.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAA) n.1466+471_1466+472insCAAAAAAAAAAAAAAAAAAAAAA c.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAA (n.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAA) c.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAA (n.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAA) c.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAA (n.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAA) c.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAA (n.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAA) c.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAA (n.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAA) n.1104+833_1104+834insCAAAAAAAAAAAAAAAAAAAAAA c.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAA (n.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAA) n.1177+471_1177+472insCAAAAAAAAAAAAAAAAAAAAAA c.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAA (n.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAA) n.1448_1449insCAAAAAAAAAAAAAAAAAAAAAA n.2912-505_2912-504insCAAAAAAAAAAAAAAAAAAAAAA c.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAA (n.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAA) c.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAA (n.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAA) c.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAA (n.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAA) c.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAA (n.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAA) c.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAA (n.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAA) c.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAA (n.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAA) c.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAA (n.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAA) c.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAA (n.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAA) c.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAA (n.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAA) c.945+833_945+834insCAAAAAAAAAAAAAAAAAAAAAA c.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAA (n.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAA) n.6550+471_6550+472insCAAAAAAAAAAAAAAAAAAAAAA n.1574+833_1574+834insCAAAAAAAAAAAAAAAAAAAAAA n.1115+833_1115+834insCAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347214_72347215insTTTTTTTTTTTTTTTTTTTTTTTG | CA618766160 | HEXA | c.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAAA (n.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAAA) c.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAAA) n.1466+471_1466+472insCAAAAAAAAAAAAAAAAAAAAAAA c.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAAA (n.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAAA) c.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAAA (n.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAAA) c.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAAA (n.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAAA) n.1104+833_1104+834insCAAAAAAAAAAAAAAAAAAAAAAA c.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAAA) n.1177+471_1177+472insCAAAAAAAAAAAAAAAAAAAAAAA c.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAAA) n.1448_1449insCAAAAAAAAAAAAAAAAAAAAAAA n.2912-505_2912-504insCAAAAAAAAAAAAAAAAAAAAAAA c.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAAA (n.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAAA) c.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAAA (n.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAAA) c.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAAA (n.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAAA) c.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAAA) c.945+833_945+834insCAAAAAAAAAAAAAAAAAAAAAAA c.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAAA (n.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAAA) n.6550+471_6550+472insCAAAAAAAAAAAAAAAAAAAAAAA n.1574+833_1574+834insCAAAAAAAAAAAAAAAAAAAAAAA n.1115+833_1115+834insCAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347214_72347215insTTTTTTTTTTTTTTTTTTTTTTTTG | CA618766162 | HEXA | c.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+471_1466+472insCAAAAAAAAAAAAAAAAAAAAAAAA c.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+833_1104+834insCAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+471_1177+472insCAAAAAAAAAAAAAAAAAAAAAAAA c.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAAAA) n.1448_1449insCAAAAAAAAAAAAAAAAAAAAAAAA n.2912-505_2912-504insCAAAAAAAAAAAAAAAAAAAAAAAA c.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAAAA (n.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAAAA) c.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAAAA (n.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAAAA) c.945+833_945+834insCAAAAAAAAAAAAAAAAAAAAAAAA c.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+471_6550+472insCAAAAAAAAAAAAAAAAAAAAAAAA n.1574+833_1574+834insCAAAAAAAAAAAAAAAAAAAAAAAA n.1115+833_1115+834insCAAAAAAAAAAAAAAAAAAAAAAAA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347214_72347215insTTTTTTTTTTTTTTTTTTTTTTTTTG | CA2515233043 | HEXA | c.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+833_1073+834insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+471_*808+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+471_1189+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+471_1252+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+471_1466+472insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+833_*483+834insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+471_*949+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+833_*971+834insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+471_1330+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-505_1074-504insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+833_1104+834insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+471_*1044+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+471_1177+472insCAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+471_1146+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.1448_1449insCAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-505_2912-504insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+471_*556+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+471_*86+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+471_1594+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-505_*14-504insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+471_*812+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+471_1477+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-890_413-889insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+833_825+834insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+471_1179+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+833_945+834insCAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+471_*667+472insCAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+471_6550+472insCAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+833_1574+834insCAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+833_1115+834insCAAAAAAAAAAAAAAAAAAAAAAAAA | |
15 | g.72347215A= | CA2186744001 | HEXA | c.1073+833T= (n.1073+833T=) c.*808+471T= (n.*808+471T=) c.1189+471T= (n.1189+471T=) c.1252+471T= (n.1252+471T=) n.1466+471T= c.*483+833T= (n.*483+833T=) c.*949+471T= (n.*949+471T=) c.*971+833T= (n.*971+833T=) c.1330+471T= (n.1330+471T=) c.1074-505T= (n.1074-505T=) n.1104+833T= c.*1044+471T= (n.*1044+471T=) n.1177+471T= c.1146+471T= (n.1146+471T=) n.1448T= n.2912-505T= c.*556+471T= (n.*556+471T=) c.*86+471T= (n.*86+471T=) c.1594+471T= (n.1594+471T=) c.*14-505T= (n.*14-505T=) c.*812+471T= (n.*812+471T=) c.1477+471T= (n.1477+471T=) c.413-890T= (n.413-890T=) c.825+833T= (n.825+833T=) c.1179+471T= (n.1179+471T=) c.945+833T= c.*667+471T= (n.*667+471T=) n.6550+471T= n.1574+833T= n.1115+833T= | |
15 | g.72347215A>C | CA971330841 | HEXA | c.1073+833T>G (n.1073+833T>G) c.*808+471T>G (n.*808+471T>G) c.1189+471T>G (n.1189+471T>G) c.1252+471T>G (n.1252+471T>G) n.1466+471T>G c.*483+833T>G (n.*483+833T>G) c.*949+471T>G (n.*949+471T>G) c.*971+833T>G (n.*971+833T>G) c.1330+471T>G (n.1330+471T>G) c.1074-505T>G (n.1074-505T>G) n.1104+833T>G c.*1044+471T>G (n.*1044+471T>G) n.1177+471T>G c.1146+471T>G (n.1146+471T>G) n.1448T>G n.2912-505T>G c.*556+471T>G (n.*556+471T>G) c.*86+471T>G (n.*86+471T>G) c.1594+471T>G (n.1594+471T>G) c.*14-505T>G (n.*14-505T>G) c.*812+471T>G (n.*812+471T>G) c.1477+471T>G (n.1477+471T>G) c.413-890T>G (n.413-890T>G) c.825+833T>G (n.825+833T>G) c.1179+471T>G (n.1179+471T>G) c.945+833T>G c.*667+471T>G (n.*667+471T>G) n.6550+471T>G n.1574+833T>G n.1115+833T>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347215A>G | CA2186744000 | HEXA | c.1073+833T>C (n.1073+833T>C) c.*808+471T>C (n.*808+471T>C) c.1189+471T>C (n.1189+471T>C) c.1252+471T>C (n.1252+471T>C) n.1466+471T>C c.*483+833T>C (n.*483+833T>C) c.*949+471T>C (n.*949+471T>C) c.*971+833T>C (n.*971+833T>C) c.1330+471T>C (n.1330+471T>C) c.1074-505T>C (n.1074-505T>C) n.1104+833T>C c.*1044+471T>C (n.*1044+471T>C) n.1177+471T>C c.1146+471T>C (n.1146+471T>C) n.1448T>C n.2912-505T>C c.*556+471T>C (n.*556+471T>C) c.*86+471T>C (n.*86+471T>C) c.1594+471T>C (n.1594+471T>C) c.*14-505T>C (n.*14-505T>C) c.*812+471T>C (n.*812+471T>C) c.1477+471T>C (n.1477+471T>C) c.413-890T>C (n.413-890T>C) c.825+833T>C (n.825+833T>C) c.1179+471T>C (n.1179+471T>C) c.945+833T>C c.*667+471T>C (n.*667+471T>C) n.6550+471T>C n.1574+833T>C n.1115+833T>C | dbSNP |
15 | g.72347215A>T | CA618766163 | HEXA | c.1073+833T>A (n.1073+833T>A) c.*808+471T>A (n.*808+471T>A) c.1189+471T>A (n.1189+471T>A) c.1252+471T>A (n.1252+471T>A) n.1466+471T>A c.*483+833T>A (n.*483+833T>A) c.*949+471T>A (n.*949+471T>A) c.*971+833T>A (n.*971+833T>A) c.1330+471T>A (n.1330+471T>A) c.1074-505T>A (n.1074-505T>A) n.1104+833T>A c.*1044+471T>A (n.*1044+471T>A) n.1177+471T>A c.1146+471T>A (n.1146+471T>A) n.1448T>A n.2912-505T>A c.*556+471T>A (n.*556+471T>A) c.*86+471T>A (n.*86+471T>A) c.1594+471T>A (n.1594+471T>A) c.*14-505T>A (n.*14-505T>A) c.*812+471T>A (n.*812+471T>A) c.1477+471T>A (n.1477+471T>A) c.413-890T>A (n.413-890T>A) c.825+833T>A (n.825+833T>A) c.1179+471T>A (n.1179+471T>A) c.945+833T>A c.*667+471T>A (n.*667+471T>A) n.6550+471T>A n.1574+833T>A n.1115+833T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347215_72347216del | CA971330839 | HEXA | c.1073+832_1073+833del (n.1073+832_1073+833del) c.*808+470_*808+471del (n.*808+470_*808+471del) c.1189+470_1189+471del (n.1189+470_1189+471del) c.1252+470_1252+471del (n.1252+470_1252+471del) n.1466+470_1466+471del c.*483+832_*483+833del (n.*483+832_*483+833del) c.*949+470_*949+471del (n.*949+470_*949+471del) c.*971+832_*971+833del (n.*971+832_*971+833del) c.1330+470_1330+471del (n.1330+470_1330+471del) c.1074-506_1074-505del (n.1074-506_1074-505del) n.1104+832_1104+833del c.*1044+470_*1044+471del (n.*1044+470_*1044+471del) n.1177+470_1177+471del c.1146+470_1146+471del (n.1146+470_1146+471del) n.1447_1448del n.2912-506_2912-505del c.*556+470_*556+471del (n.*556+470_*556+471del) c.*86+470_*86+471del (n.*86+470_*86+471del) c.1594+470_1594+471del (n.1594+470_1594+471del) c.*14-506_*14-505del (n.*14-506_*14-505del) c.*812+470_*812+471del (n.*812+470_*812+471del) c.1477+470_1477+471del (n.1477+470_1477+471del) c.413-891_413-890del (n.413-891_413-890del) c.825+832_825+833del (n.825+832_825+833del) c.1179+470_1179+471del (n.1179+470_1179+471del) c.945+832_945+833del c.*667+470_*667+471del (n.*667+470_*667+471del) n.6550+470_6550+471del n.1574+832_1574+833del n.1115+832_1115+833del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347215_72347217del | CA618766158 | HEXA | c.1073+831_1073+833del (n.1073+831_1073+833del) c.*808+469_*808+471del (n.*808+469_*808+471del) c.1189+469_1189+471del (n.1189+469_1189+471del) c.1252+469_1252+471del (n.1252+469_1252+471del) n.1466+469_1466+471del c.*483+831_*483+833del (n.*483+831_*483+833del) c.*949+469_*949+471del (n.*949+469_*949+471del) c.*971+831_*971+833del (n.*971+831_*971+833del) c.1330+469_1330+471del (n.1330+469_1330+471del) c.1074-507_1074-505del (n.1074-507_1074-505del) n.1104+831_1104+833del c.*1044+469_*1044+471del (n.*1044+469_*1044+471del) n.1177+469_1177+471del c.1146+469_1146+471del (n.1146+469_1146+471del) n.1446_1448del n.2912-507_2912-505del c.*556+469_*556+471del (n.*556+469_*556+471del) c.*86+469_*86+471del (n.*86+469_*86+471del) c.1594+469_1594+471del (n.1594+469_1594+471del) c.*14-507_*14-505del (n.*14-507_*14-505del) c.*812+469_*812+471del (n.*812+469_*812+471del) c.1477+469_1477+471del (n.1477+469_1477+471del) c.413-892_413-890del (n.413-892_413-890del) c.825+831_825+833del (n.825+831_825+833del) c.1179+469_1179+471del (n.1179+469_1179+471del) c.945+831_945+833del c.*667+469_*667+471del (n.*667+469_*667+471del) n.6550+469_6550+471del n.1574+831_1574+833del n.1115+831_1115+833del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347215_72347283del | CA971330840 | HEXA | c.1073+765_1073+833del (n.1073+765_1073+833del) c.*808+403_*808+471del (n.*808+403_*808+471del) c.1189+403_1189+471del (n.1189+403_1189+471del) c.1252+403_1252+471del (n.1252+403_1252+471del) n.1466+403_1466+471del c.*483+765_*483+833del (n.*483+765_*483+833del) c.*949+403_*949+471del (n.*949+403_*949+471del) c.*971+765_*971+833del (n.*971+765_*971+833del) c.1330+403_1330+471del (n.1330+403_1330+471del) c.1074-573_1074-505del (n.1074-573_1074-505del) n.1104+765_1104+833del c.*1044+403_*1044+471del (n.*1044+403_*1044+471del) n.1177+403_1177+471del c.1146+403_1146+471del (n.1146+403_1146+471del) n.1380_1448del n.2912-573_2912-505del c.*556+403_*556+471del (n.*556+403_*556+471del) c.*86+403_*86+471del (n.*86+403_*86+471del) c.1594+403_1594+471del (n.1594+403_1594+471del) c.*14-573_*14-505del (n.*14-573_*14-505del) c.*812+403_*812+471del (n.*812+403_*812+471del) c.1477+403_1477+471del (n.1477+403_1477+471del) c.413-958_413-890del (n.413-958_413-890del) c.825+765_825+833del (n.825+765_825+833del) c.1179+403_1179+471del (n.1179+403_1179+471del) c.945+765_945+833del c.*667+403_*667+471del (n.*667+403_*667+471del) n.6550+403_6550+471del n.1574+765_1574+833del n.1115+765_1115+833del | gnomAD v3 gnomAD v4 |
15 | g.72347215_72347216insGACGG | CA618766164 | HEXA | c.1073+832_1073+833insCCGTC (n.1073+832_1073+833insCCGTC) c.*808+470_*808+471insCCGTC (n.*808+470_*808+471insCCGTC) c.1189+470_1189+471insCCGTC (n.1189+470_1189+471insCCGTC) c.1252+470_1252+471insCCGTC (n.1252+470_1252+471insCCGTC) n.1466+470_1466+471insCCGTC c.*483+832_*483+833insCCGTC (n.*483+832_*483+833insCCGTC) c.*949+470_*949+471insCCGTC (n.*949+470_*949+471insCCGTC) c.*971+832_*971+833insCCGTC (n.*971+832_*971+833insCCGTC) c.1330+470_1330+471insCCGTC (n.1330+470_1330+471insCCGTC) c.1074-506_1074-505insCCGTC (n.1074-506_1074-505insCCGTC) n.1104+832_1104+833insCCGTC c.*1044+470_*1044+471insCCGTC (n.*1044+470_*1044+471insCCGTC) n.1177+470_1177+471insCCGTC c.1146+470_1146+471insCCGTC (n.1146+470_1146+471insCCGTC) n.1447_1448insCCGTC n.2912-506_2912-505insCCGTC c.*556+470_*556+471insCCGTC (n.*556+470_*556+471insCCGTC) c.*86+470_*86+471insCCGTC (n.*86+470_*86+471insCCGTC) c.1594+470_1594+471insCCGTC (n.1594+470_1594+471insCCGTC) c.*14-506_*14-505insCCGTC (n.*14-506_*14-505insCCGTC) c.*812+470_*812+471insCCGTC (n.*812+470_*812+471insCCGTC) c.1477+470_1477+471insCCGTC (n.1477+470_1477+471insCCGTC) c.413-891_413-890insCCGTC (n.413-891_413-890insCCGTC) c.825+832_825+833insCCGTC (n.825+832_825+833insCCGTC) c.1179+470_1179+471insCCGTC (n.1179+470_1179+471insCCGTC) c.945+832_945+833insCCGTC c.*667+470_*667+471insCCGTC (n.*667+470_*667+471insCCGTC) n.6550+470_6550+471insCCGTC n.1574+832_1574+833insCCGTC n.1115+832_1115+833insCCGTC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347216A= | CA2186744002 | HEXA | c.1073+832T= (n.1073+832T=) c.*808+470T= (n.*808+470T=) c.1189+470T= (n.1189+470T=) c.1252+470T= (n.1252+470T=) n.1466+470T= c.*483+832T= (n.*483+832T=) c.*949+470T= (n.*949+470T=) c.*971+832T= (n.*971+832T=) c.1330+470T= (n.1330+470T=) c.1074-506T= (n.1074-506T=) n.1104+832T= c.*1044+470T= (n.*1044+470T=) n.1177+470T= c.1146+470T= (n.1146+470T=) n.1447T= n.2912-506T= c.*556+470T= (n.*556+470T=) c.*86+470T= (n.*86+470T=) c.1594+470T= (n.1594+470T=) c.*14-506T= (n.*14-506T=) c.*812+470T= (n.*812+470T=) c.1477+470T= (n.1477+470T=) c.413-891T= (n.413-891T=) c.825+832T= (n.825+832T=) c.1179+470T= (n.1179+470T=) c.945+832T= c.*667+470T= (n.*667+470T=) n.6550+470T= n.1574+832T= n.1115+832T= | |
15 | g.72347216A>T | CA618766165 | HEXA | c.1073+832T>A (n.1073+832T>A) c.*808+470T>A (n.*808+470T>A) c.1189+470T>A (n.1189+470T>A) c.1252+470T>A (n.1252+470T>A) n.1466+470T>A c.*483+832T>A (n.*483+832T>A) c.*949+470T>A (n.*949+470T>A) c.*971+832T>A (n.*971+832T>A) c.1330+470T>A (n.1330+470T>A) c.1074-506T>A (n.1074-506T>A) n.1104+832T>A c.*1044+470T>A (n.*1044+470T>A) n.1177+470T>A c.1146+470T>A (n.1146+470T>A) n.1447T>A n.2912-506T>A c.*556+470T>A (n.*556+470T>A) c.*86+470T>A (n.*86+470T>A) c.1594+470T>A (n.1594+470T>A) c.*14-506T>A (n.*14-506T>A) c.*812+470T>A (n.*812+470T>A) c.1477+470T>A (n.1477+470T>A) c.413-891T>A (n.413-891T>A) c.825+832T>A (n.825+832T>A) c.1179+470T>A (n.1179+470T>A) c.945+832T>A c.*667+470T>A (n.*667+470T>A) n.6550+470T>A n.1574+832T>A n.1115+832T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347217G>C | CA971330843 | HEXA | c.1073+831C>G (n.1073+831C>G) c.*808+469C>G (n.*808+469C>G) c.1189+469C>G (n.1189+469C>G) c.1252+469C>G (n.1252+469C>G) n.1466+469C>G c.*483+831C>G (n.*483+831C>G) c.*949+469C>G (n.*949+469C>G) c.*971+831C>G (n.*971+831C>G) c.1330+469C>G (n.1330+469C>G) c.1074-507C>G (n.1074-507C>G) n.1104+831C>G c.*1044+469C>G (n.*1044+469C>G) n.1177+469C>G c.1146+469C>G (n.1146+469C>G) n.1446C>G n.2912-507C>G c.*556+469C>G (n.*556+469C>G) c.*86+469C>G (n.*86+469C>G) c.1594+469C>G (n.1594+469C>G) c.*14-507C>G (n.*14-507C>G) c.*812+469C>G (n.*812+469C>G) c.1477+469C>G (n.1477+469C>G) c.413-892C>G (n.413-892C>G) c.825+831C>G (n.825+831C>G) c.1179+469C>G (n.1179+469C>G) c.945+831C>G c.*667+469C>G (n.*667+469C>G) n.6550+469C>G n.1574+831C>G n.1115+831C>G | gnomAD v3 gnomAD v4 |
15 | g.72347217G= | CA2186744003 | HEXA | c.1073+831C= (n.1073+831C=) c.*808+469C= (n.*808+469C=) c.1189+469C= (n.1189+469C=) c.1252+469C= (n.1252+469C=) n.1466+469C= c.*483+831C= (n.*483+831C=) c.*949+469C= (n.*949+469C=) c.*971+831C= (n.*971+831C=) c.1330+469C= (n.1330+469C=) c.1074-507C= (n.1074-507C=) n.1104+831C= c.*1044+469C= (n.*1044+469C=) n.1177+469C= c.1146+469C= (n.1146+469C=) n.1446C= n.2912-507C= c.*556+469C= (n.*556+469C=) c.*86+469C= (n.*86+469C=) c.1594+469C= (n.1594+469C=) c.*14-507C= (n.*14-507C=) c.*812+469C= (n.*812+469C=) c.1477+469C= (n.1477+469C=) c.413-892C= (n.413-892C=) c.825+831C= (n.825+831C=) c.1179+469C= (n.1179+469C=) c.945+831C= c.*667+469C= (n.*667+469C=) n.6550+469C= n.1574+831C= n.1115+831C= | |
15 | g.72347217G>T | CA618766166 | HEXA | c.1073+831C>A (n.1073+831C>A) c.*808+469C>A (n.*808+469C>A) c.1189+469C>A (n.1189+469C>A) c.1252+469C>A (n.1252+469C>A) n.1466+469C>A c.*483+831C>A (n.*483+831C>A) c.*949+469C>A (n.*949+469C>A) c.*971+831C>A (n.*971+831C>A) c.1330+469C>A (n.1330+469C>A) c.1074-507C>A (n.1074-507C>A) n.1104+831C>A c.*1044+469C>A (n.*1044+469C>A) n.1177+469C>A c.1146+469C>A (n.1146+469C>A) n.1446C>A n.2912-507C>A c.*556+469C>A (n.*556+469C>A) c.*86+469C>A (n.*86+469C>A) c.1594+469C>A (n.1594+469C>A) c.*14-507C>A (n.*14-507C>A) c.*812+469C>A (n.*812+469C>A) c.1477+469C>A (n.1477+469C>A) c.413-892C>A (n.413-892C>A) c.825+831C>A (n.825+831C>A) c.1179+469C>A (n.1179+469C>A) c.945+831C>A c.*667+469C>A (n.*667+469C>A) n.6550+469C>A n.1574+831C>A n.1115+831C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347217_72347218delinsGT | CA2186744004 | HEXA | c.1073+830_1073+831delinsAC (n.1073+830_1073+831delinsAC) c.*808+468_*808+469delinsAC (n.*808+468_*808+469delinsAC) c.1189+468_1189+469delinsAC (n.1189+468_1189+469delinsAC) c.1252+468_1252+469delinsAC (n.1252+468_1252+469delinsAC) n.1466+468_1466+469delinsAC c.*483+830_*483+831delinsAC (n.*483+830_*483+831delinsAC) c.*949+468_*949+469delinsAC (n.*949+468_*949+469delinsAC) c.*971+830_*971+831delinsAC (n.*971+830_*971+831delinsAC) c.1330+468_1330+469delinsAC (n.1330+468_1330+469delinsAC) c.1074-508_1074-507delinsAC (n.1074-508_1074-507delinsAC) n.1104+830_1104+831delinsAC c.*1044+468_*1044+469delinsAC (n.*1044+468_*1044+469delinsAC) n.1177+468_1177+469delinsAC c.1146+468_1146+469delinsAC (n.1146+468_1146+469delinsAC) n.1445_1446delinsAC n.2912-508_2912-507delinsAC c.*556+468_*556+469delinsAC (n.*556+468_*556+469delinsAC) c.*86+468_*86+469delinsAC (n.*86+468_*86+469delinsAC) c.1594+468_1594+469delinsAC (n.1594+468_1594+469delinsAC) c.*14-508_*14-507delinsAC (n.*14-508_*14-507delinsAC) c.*812+468_*812+469delinsAC (n.*812+468_*812+469delinsAC) c.1477+468_1477+469delinsAC (n.1477+468_1477+469delinsAC) c.413-893_413-892delinsAC (n.413-893_413-892delinsAC) c.825+830_825+831delinsAC (n.825+830_825+831delinsAC) c.1179+468_1179+469delinsAC (n.1179+468_1179+469delinsAC) c.945+830_945+831delinsAC c.*667+468_*667+469delinsAC (n.*667+468_*667+469delinsAC) n.6550+468_6550+469delinsAC n.1574+830_1574+831delinsAC n.1115+830_1115+831delinsAC | |
15 | g.72347270_72347271insAAGGCCGCTGTGGTATGAGCCCTGGGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCA | CA971330842 | HEXA | c.1073+831_1073+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1073+831_1073+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.*808+469_*808+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*808+469_*808+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.1189+469_1189+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1189+469_1189+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.1252+469_1252+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1252+469_1252+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) n.1466+469_1466+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC c.*483+831_*483+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*483+831_*483+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.*949+469_*949+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*949+469_*949+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.*971+831_*971+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*971+831_*971+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.1330+469_1330+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1330+469_1330+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.1074-507_1074-506insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1074-507_1074-506insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) n.1104+831_1104+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC c.*1044+469_*1044+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*1044+469_*1044+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) n.1177+469_1177+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC c.1146+469_1146+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1146+469_1146+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) n.1446_1447insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC n.2912-507_2912-506insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC c.*556+469_*556+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*556+469_*556+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.*86+469_*86+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*86+469_*86+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.1594+469_1594+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1594+469_1594+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.*14-507_*14-506insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*14-507_*14-506insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.*812+469_*812+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*812+469_*812+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.1477+469_1477+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1477+469_1477+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.413-892_413-891insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.413-892_413-891insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.825+831_825+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.825+831_825+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.1179+469_1179+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.1179+469_1179+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) c.945+831_945+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC c.*667+469_*667+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC (n.*667+469_*667+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC) n.6550+469_6550+470insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC n.1574+831_1574+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC n.1115+831_1115+832insCCAGGGCTCATACCACAGCGGCCTTTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACAAAC | |
15 | g.72347220_72347221insTTTTTTTTTTTTTTTTTTT | CA2804700061 | HEXA | c.1073+830_1073+831insAAAAAAAAAAAAAAAAAAA (n.1073+830_1073+831insAAAAAAAAAAAAAAAAAAA) c.*808+468_*808+469insAAAAAAAAAAAAAAAAAAA (n.*808+468_*808+469insAAAAAAAAAAAAAAAAAAA) c.1189+468_1189+469insAAAAAAAAAAAAAAAAAAA (n.1189+468_1189+469insAAAAAAAAAAAAAAAAAAA) c.1252+468_1252+469insAAAAAAAAAAAAAAAAAAA (n.1252+468_1252+469insAAAAAAAAAAAAAAAAAAA) n.1466+468_1466+469insAAAAAAAAAAAAAAAAAAA c.*483+830_*483+831insAAAAAAAAAAAAAAAAAAA (n.*483+830_*483+831insAAAAAAAAAAAAAAAAAAA) c.*949+468_*949+469insAAAAAAAAAAAAAAAAAAA (n.*949+468_*949+469insAAAAAAAAAAAAAAAAAAA) c.*971+830_*971+831insAAAAAAAAAAAAAAAAAAA (n.*971+830_*971+831insAAAAAAAAAAAAAAAAAAA) c.1330+468_1330+469insAAAAAAAAAAAAAAAAAAA (n.1330+468_1330+469insAAAAAAAAAAAAAAAAAAA) c.1074-508_1074-507insAAAAAAAAAAAAAAAAAAA (n.1074-508_1074-507insAAAAAAAAAAAAAAAAAAA) n.1104+830_1104+831insAAAAAAAAAAAAAAAAAAA c.*1044+468_*1044+469insAAAAAAAAAAAAAAAAAAA (n.*1044+468_*1044+469insAAAAAAAAAAAAAAAAAAA) n.1177+468_1177+469insAAAAAAAAAAAAAAAAAAA c.1146+468_1146+469insAAAAAAAAAAAAAAAAAAA (n.1146+468_1146+469insAAAAAAAAAAAAAAAAAAA) n.1445_1446insAAAAAAAAAAAAAAAAAAA n.2912-508_2912-507insAAAAAAAAAAAAAAAAAAA c.*556+468_*556+469insAAAAAAAAAAAAAAAAAAA (n.*556+468_*556+469insAAAAAAAAAAAAAAAAAAA) c.*86+468_*86+469insAAAAAAAAAAAAAAAAAAA (n.*86+468_*86+469insAAAAAAAAAAAAAAAAAAA) c.1594+468_1594+469insAAAAAAAAAAAAAAAAAAA (n.1594+468_1594+469insAAAAAAAAAAAAAAAAAAA) c.*14-508_*14-507insAAAAAAAAAAAAAAAAAAA (n.*14-508_*14-507insAAAAAAAAAAAAAAAAAAA) c.*812+468_*812+469insAAAAAAAAAAAAAAAAAAA (n.*812+468_*812+469insAAAAAAAAAAAAAAAAAAA) c.1477+468_1477+469insAAAAAAAAAAAAAAAAAAA (n.1477+468_1477+469insAAAAAAAAAAAAAAAAAAA) c.413-893_413-892insAAAAAAAAAAAAAAAAAAA (n.413-893_413-892insAAAAAAAAAAAAAAAAAAA) c.825+830_825+831insAAAAAAAAAAAAAAAAAAA (n.825+830_825+831insAAAAAAAAAAAAAAAAAAA) c.1179+468_1179+469insAAAAAAAAAAAAAAAAAAA (n.1179+468_1179+469insAAAAAAAAAAAAAAAAAAA) c.945+830_945+831insAAAAAAAAAAAAAAAAAAA c.*667+468_*667+469insAAAAAAAAAAAAAAAAAAA (n.*667+468_*667+469insAAAAAAAAAAAAAAAAAAA) n.6550+468_6550+469insAAAAAAAAAAAAAAAAAAA n.1574+830_1574+831insAAAAAAAAAAAAAAAAAAA n.1115+830_1115+831insAAAAAAAAAAAAAAAAAAA | |
15 | g.72347220del | CA2186744005 | HEXA | c.1073+830del (n.1073+830del) c.*808+468del (n.*808+468del) c.1189+468del (n.1189+468del) c.1252+468del (n.1252+468del) n.1466+468del c.*483+830del (n.*483+830del) c.*949+468del (n.*949+468del) c.*971+830del (n.*971+830del) c.1330+468del (n.1330+468del) c.1074-508del (n.1074-508del) n.1104+830del c.*1044+468del (n.*1044+468del) n.1177+468del c.1146+468del (n.1146+468del) n.1445del n.2912-508del c.*556+468del (n.*556+468del) c.*86+468del (n.*86+468del) c.1594+468del (n.1594+468del) c.*14-508del (n.*14-508del) c.*812+468del (n.*812+468del) c.1477+468del (n.1477+468del) c.413-893del (n.413-893del) c.825+830del (n.825+830del) c.1179+468del (n.1179+468del) c.945+830del c.*667+468del (n.*667+468del) n.6550+468del n.1574+830del n.1115+830del | dbSNP |
15 | g.72347219T>C | CA618766167 | HEXA | c.1073+829A>G (n.1073+829A>G) c.*808+467A>G (n.*808+467A>G) c.1189+467A>G (n.1189+467A>G) c.1252+467A>G (n.1252+467A>G) n.1466+467A>G c.*483+829A>G (n.*483+829A>G) c.*949+467A>G (n.*949+467A>G) c.*971+829A>G (n.*971+829A>G) c.1330+467A>G (n.1330+467A>G) c.1074-509A>G (n.1074-509A>G) n.1104+829A>G c.*1044+467A>G (n.*1044+467A>G) n.1177+467A>G c.1146+467A>G (n.1146+467A>G) n.1444A>G n.2912-509A>G c.*556+467A>G (n.*556+467A>G) c.*86+467A>G (n.*86+467A>G) c.1594+467A>G (n.1594+467A>G) c.*14-509A>G (n.*14-509A>G) c.*812+467A>G (n.*812+467A>G) c.1477+467A>G (n.1477+467A>G) c.413-894A>G (n.413-894A>G) c.825+829A>G (n.825+829A>G) c.1179+467A>G (n.1179+467A>G) c.945+829A>G c.*667+467A>G (n.*667+467A>G) n.6550+467A>G n.1574+829A>G n.1115+829A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347219T= | CA2186744006 | HEXA | c.1073+829A= (n.1073+829A=) c.*808+467A= (n.*808+467A=) c.1189+467A= (n.1189+467A=) c.1252+467A= (n.1252+467A=) n.1466+467A= c.*483+829A= (n.*483+829A=) c.*949+467A= (n.*949+467A=) c.*971+829A= (n.*971+829A=) c.1330+467A= (n.1330+467A=) c.1074-509A= (n.1074-509A=) n.1104+829A= c.*1044+467A= (n.*1044+467A=) n.1177+467A= c.1146+467A= (n.1146+467A=) n.1444A= n.2912-509A= c.*556+467A= (n.*556+467A=) c.*86+467A= (n.*86+467A=) c.1594+467A= (n.1594+467A=) c.*14-509A= (n.*14-509A=) c.*812+467A= (n.*812+467A=) c.1477+467A= (n.1477+467A=) c.413-894A= (n.413-894A=) c.825+829A= (n.825+829A=) c.1179+467A= (n.1179+467A=) c.945+829A= c.*667+467A= (n.*667+467A=) n.6550+467A= n.1574+829A= n.1115+829A= | |
15 | g.72347220T>G | CA715464566 | HEXA | c.1073+828A>C (n.1073+828A>C) c.*808+466A>C (n.*808+466A>C) c.1189+466A>C (n.1189+466A>C) c.1252+466A>C (n.1252+466A>C) n.1466+466A>C c.*483+828A>C (n.*483+828A>C) c.*949+466A>C (n.*949+466A>C) c.*971+828A>C (n.*971+828A>C) c.1330+466A>C (n.1330+466A>C) c.1074-510A>C (n.1074-510A>C) n.1104+828A>C c.*1044+466A>C (n.*1044+466A>C) n.1177+466A>C c.1146+466A>C (n.1146+466A>C) n.1443A>C n.2912-510A>C c.*556+466A>C (n.*556+466A>C) c.*86+466A>C (n.*86+466A>C) c.1594+466A>C (n.1594+466A>C) c.*14-510A>C (n.*14-510A>C) c.*812+466A>C (n.*812+466A>C) c.1477+466A>C (n.1477+466A>C) c.413-895A>C (n.413-895A>C) c.825+828A>C (n.825+828A>C) c.1179+466A>C (n.1179+466A>C) c.945+828A>C c.*667+466A>C (n.*667+466A>C) n.6550+466A>C n.1574+828A>C n.1115+828A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347220T= | CA2186744007 | HEXA | c.1073+828A= (n.1073+828A=) c.*808+466A= (n.*808+466A=) c.1189+466A= (n.1189+466A=) c.1252+466A= (n.1252+466A=) n.1466+466A= c.*483+828A= (n.*483+828A=) c.*949+466A= (n.*949+466A=) c.*971+828A= (n.*971+828A=) c.1330+466A= (n.1330+466A=) c.1074-510A= (n.1074-510A=) n.1104+828A= c.*1044+466A= (n.*1044+466A=) n.1177+466A= c.1146+466A= (n.1146+466A=) n.1443A= n.2912-510A= c.*556+466A= (n.*556+466A=) c.*86+466A= (n.*86+466A=) c.1594+466A= (n.1594+466A=) c.*14-510A= (n.*14-510A=) c.*812+466A= (n.*812+466A=) c.1477+466A= (n.1477+466A=) c.413-895A= (n.413-895A=) c.825+828A= (n.825+828A=) c.1179+466A= (n.1179+466A=) c.945+828A= c.*667+466A= (n.*667+466A=) n.6550+466A= n.1574+828A= n.1115+828A= | |
15 | g.72347220_72347240delinsTGTAGTGAGGGAAGATAGAAA | CA2186744008 | HEXA | c.1073+808_1073+828delinsTTTCTATCTTCCCTCACTACA (n.1073+808_1073+828delinsTTTCTATCTTCCCTCACTACA) c.*808+446_*808+466delinsTTTCTATCTTCCCTCACTACA (n.*808+446_*808+466delinsTTTCTATCTTCCCTCACTACA) c.1189+446_1189+466delinsTTTCTATCTTCCCTCACTACA (n.1189+446_1189+466delinsTTTCTATCTTCCCTCACTACA) c.1252+446_1252+466delinsTTTCTATCTTCCCTCACTACA (n.1252+446_1252+466delinsTTTCTATCTTCCCTCACTACA) n.1466+446_1466+466delinsTTTCTATCTTCCCTCACTACA c.*483+808_*483+828delinsTTTCTATCTTCCCTCACTACA (n.*483+808_*483+828delinsTTTCTATCTTCCCTCACTACA) c.*949+446_*949+466delinsTTTCTATCTTCCCTCACTACA (n.*949+446_*949+466delinsTTTCTATCTTCCCTCACTACA) c.*971+808_*971+828delinsTTTCTATCTTCCCTCACTACA (n.*971+808_*971+828delinsTTTCTATCTTCCCTCACTACA) c.1330+446_1330+466delinsTTTCTATCTTCCCTCACTACA (n.1330+446_1330+466delinsTTTCTATCTTCCCTCACTACA) c.1074-530_1074-510delinsTTTCTATCTTCCCTCACTACA (n.1074-530_1074-510delinsTTTCTATCTTCCCTCACTACA) n.1104+808_1104+828delinsTTTCTATCTTCCCTCACTACA c.*1044+446_*1044+466delinsTTTCTATCTTCCCTCACTACA (n.*1044+446_*1044+466delinsTTTCTATCTTCCCTCACTACA) n.1177+446_1177+466delinsTTTCTATCTTCCCTCACTACA c.1146+446_1146+466delinsTTTCTATCTTCCCTCACTACA (n.1146+446_1146+466delinsTTTCTATCTTCCCTCACTACA) n.1423_1443delinsTTTCTATCTTCCCTCACTACA n.2912-530_2912-510delinsTTTCTATCTTCCCTCACTACA c.*556+446_*556+466delinsTTTCTATCTTCCCTCACTACA (n.*556+446_*556+466delinsTTTCTATCTTCCCTCACTACA) c.*86+446_*86+466delinsTTTCTATCTTCCCTCACTACA (n.*86+446_*86+466delinsTTTCTATCTTCCCTCACTACA) c.1594+446_1594+466delinsTTTCTATCTTCCCTCACTACA (n.1594+446_1594+466delinsTTTCTATCTTCCCTCACTACA) c.*14-530_*14-510delinsTTTCTATCTTCCCTCACTACA (n.*14-530_*14-510delinsTTTCTATCTTCCCTCACTACA) c.*812+446_*812+466delinsTTTCTATCTTCCCTCACTACA (n.*812+446_*812+466delinsTTTCTATCTTCCCTCACTACA) c.1477+446_1477+466delinsTTTCTATCTTCCCTCACTACA (n.1477+446_1477+466delinsTTTCTATCTTCCCTCACTACA) c.413-915_413-895delinsTTTCTATCTTCCCTCACTACA (n.413-915_413-895delinsTTTCTATCTTCCCTCACTACA) c.825+808_825+828delinsTTTCTATCTTCCCTCACTACA (n.825+808_825+828delinsTTTCTATCTTCCCTCACTACA) c.1179+446_1179+466delinsTTTCTATCTTCCCTCACTACA (n.1179+446_1179+466delinsTTTCTATCTTCCCTCACTACA) c.945+808_945+828delinsTTTCTATCTTCCCTCACTACA c.*667+446_*667+466delinsTTTCTATCTTCCCTCACTACA (n.*667+446_*667+466delinsTTTCTATCTTCCCTCACTACA) n.6550+446_6550+466delinsTTTCTATCTTCCCTCACTACA n.1574+808_1574+828delinsTTTCTATCTTCCCTCACTACA n.1115+808_1115+828delinsTTTCTATCTTCCCTCACTACA | |
15 | g.72347220_72347283delinsTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGG | CA2186744009 | HEXA | c.1073+765_1073+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1073+765_1073+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.*808+403_*808+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*808+403_*808+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.1189+403_1189+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1189+403_1189+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.1252+403_1252+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1252+403_1252+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) n.1466+403_1466+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA c.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*483+765_*483+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.*949+403_*949+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*949+403_*949+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.*971+765_*971+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*971+765_*971+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.1330+403_1330+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1330+403_1330+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1074-573_1074-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) n.1104+765_1104+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA c.*1044+403_*1044+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*1044+403_*1044+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) n.1177+403_1177+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA c.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1146+403_1146+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) n.1380_1443delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA n.2912-573_2912-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA c.*556+403_*556+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*556+403_*556+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.*86+403_*86+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*86+403_*86+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.1594+403_1594+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1594+403_1594+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.*14-573_*14-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*14-573_*14-510delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.*812+403_*812+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*812+403_*812+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.1477+403_1477+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1477+403_1477+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.413-958_413-895delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.413-958_413-895delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.825+765_825+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.825+765_825+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.1179+403_1179+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) c.945+765_945+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA c.*667+403_*667+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA (n.*667+403_*667+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA) n.6550+403_6550+466delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA n.1574+765_1574+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA n.1115+765_1115+828delinsCCAAAGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCAGAGTTTCTATCTTCCCTCACTACA | |
15 | g.72347221_72347284del | CA971330844 | HEXA | c.1073+765_1073+828del (n.1073+765_1073+828del) c.*808+403_*808+466del (n.*808+403_*808+466del) c.1189+403_1189+466del (n.1189+403_1189+466del) c.1252+403_1252+466del (n.1252+403_1252+466del) n.1466+403_1466+466del c.*483+765_*483+828del (n.*483+765_*483+828del) c.*949+403_*949+466del (n.*949+403_*949+466del) c.*971+765_*971+828del (n.*971+765_*971+828del) c.1330+403_1330+466del (n.1330+403_1330+466del) c.1074-573_1074-510del (n.1074-573_1074-510del) n.1104+765_1104+828del c.*1044+403_*1044+466del (n.*1044+403_*1044+466del) n.1177+403_1177+466del c.1146+403_1146+466del (n.1146+403_1146+466del) n.1380_1443del n.2912-573_2912-510del c.*556+403_*556+466del (n.*556+403_*556+466del) c.*86+403_*86+466del (n.*86+403_*86+466del) c.1594+403_1594+466del (n.1594+403_1594+466del) c.*14-573_*14-510del (n.*14-573_*14-510del) c.*812+403_*812+466del (n.*812+403_*812+466del) c.1477+403_1477+466del (n.1477+403_1477+466del) c.413-958_413-895del (n.413-958_413-895del) c.825+765_825+828del (n.825+765_825+828del) c.1179+403_1179+466del (n.1179+403_1179+466del) c.945+765_945+828del c.*667+403_*667+466del (n.*667+403_*667+466del) n.6550+403_6550+466del n.1574+765_1574+828del n.1115+765_1115+828del | gnomAD v3 gnomAD v4 |
15 | g.72347221del | CA618766170 | HEXA | c.1073+827del (n.1073+827del) c.*808+465del (n.*808+465del) c.1189+465del (n.1189+465del) c.1252+465del (n.1252+465del) n.1466+465del c.*483+827del (n.*483+827del) c.*949+465del (n.*949+465del) c.*971+827del (n.*971+827del) c.1330+465del (n.1330+465del) c.1074-511del (n.1074-511del) n.1104+827del c.*1044+465del (n.*1044+465del) n.1177+465del c.1146+465del (n.1146+465del) n.1442del n.2912-511del c.*556+465del (n.*556+465del) c.*86+465del (n.*86+465del) c.1594+465del (n.1594+465del) c.*14-511del (n.*14-511del) c.*812+465del (n.*812+465del) c.1477+465del (n.1477+465del) c.413-896del (n.413-896del) c.825+827del (n.825+827del) c.1179+465del (n.1179+465del) c.945+827del c.*667+465del (n.*667+465del) n.6550+465del n.1574+827del n.1115+827del | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347221G= | CA2186744010 | HEXA | c.1073+827C= (n.1073+827C=) c.*808+465C= (n.*808+465C=) c.1189+465C= (n.1189+465C=) c.1252+465C= (n.1252+465C=) n.1466+465C= c.*483+827C= (n.*483+827C=) c.*949+465C= (n.*949+465C=) c.*971+827C= (n.*971+827C=) c.1330+465C= (n.1330+465C=) c.1074-511C= (n.1074-511C=) n.1104+827C= c.*1044+465C= (n.*1044+465C=) n.1177+465C= c.1146+465C= (n.1146+465C=) n.1442C= n.2912-511C= c.*556+465C= (n.*556+465C=) c.*86+465C= (n.*86+465C=) c.1594+465C= (n.1594+465C=) c.*14-511C= (n.*14-511C=) c.*812+465C= (n.*812+465C=) c.1477+465C= (n.1477+465C=) c.413-896C= (n.413-896C=) c.825+827C= (n.825+827C=) c.1179+465C= (n.1179+465C=) c.945+827C= c.*667+465C= (n.*667+465C=) n.6550+465C= n.1574+827C= n.1115+827C= | |
15 | g.72347221G>T | CA618766171 | HEXA | c.1073+827C>A (n.1073+827C>A) c.*808+465C>A (n.*808+465C>A) c.1189+465C>A (n.1189+465C>A) c.1252+465C>A (n.1252+465C>A) n.1466+465C>A c.*483+827C>A (n.*483+827C>A) c.*949+465C>A (n.*949+465C>A) c.*971+827C>A (n.*971+827C>A) c.1330+465C>A (n.1330+465C>A) c.1074-511C>A (n.1074-511C>A) n.1104+827C>A c.*1044+465C>A (n.*1044+465C>A) n.1177+465C>A c.1146+465C>A (n.1146+465C>A) n.1442C>A n.2912-511C>A c.*556+465C>A (n.*556+465C>A) c.*86+465C>A (n.*86+465C>A) c.1594+465C>A (n.1594+465C>A) c.*14-511C>A (n.*14-511C>A) c.*812+465C>A (n.*812+465C>A) c.1477+465C>A (n.1477+465C>A) c.413-896C>A (n.413-896C>A) c.825+827C>A (n.825+827C>A) c.1179+465C>A (n.1179+465C>A) c.945+827C>A c.*667+465C>A (n.*667+465C>A) n.6550+465C>A n.1574+827C>A n.1115+827C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347221_72347240del | CA971330845 | HEXA | c.1073+808_1073+827del (n.1073+808_1073+827del) c.*808+446_*808+465del (n.*808+446_*808+465del) c.1189+446_1189+465del (n.1189+446_1189+465del) c.1252+446_1252+465del (n.1252+446_1252+465del) n.1466+446_1466+465del c.*483+808_*483+827del (n.*483+808_*483+827del) c.*949+446_*949+465del (n.*949+446_*949+465del) c.*971+808_*971+827del (n.*971+808_*971+827del) c.1330+446_1330+465del (n.1330+446_1330+465del) c.1074-530_1074-511del (n.1074-530_1074-511del) n.1104+808_1104+827del c.*1044+446_*1044+465del (n.*1044+446_*1044+465del) n.1177+446_1177+465del c.1146+446_1146+465del (n.1146+446_1146+465del) n.1423_1442del n.2912-530_2912-511del c.*556+446_*556+465del (n.*556+446_*556+465del) c.*86+446_*86+465del (n.*86+446_*86+465del) c.1594+446_1594+465del (n.1594+446_1594+465del) c.*14-530_*14-511del (n.*14-530_*14-511del) c.*812+446_*812+465del (n.*812+446_*812+465del) c.1477+446_1477+465del (n.1477+446_1477+465del) c.413-915_413-896del (n.413-915_413-896del) c.825+808_825+827del (n.825+808_825+827del) c.1179+446_1179+465del (n.1179+446_1179+465del) c.945+808_945+827del c.*667+446_*667+465del (n.*667+446_*667+465del) n.6550+446_6550+465del n.1574+808_1574+827del n.1115+808_1115+827del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347221_72347278del | CA618766173 | HEXA | c.1073+770_1073+827del (n.1073+770_1073+827del) c.*808+408_*808+465del (n.*808+408_*808+465del) c.1189+408_1189+465del (n.1189+408_1189+465del) c.1252+408_1252+465del (n.1252+408_1252+465del) n.1466+408_1466+465del c.*483+770_*483+827del (n.*483+770_*483+827del) c.*949+408_*949+465del (n.*949+408_*949+465del) c.*971+770_*971+827del (n.*971+770_*971+827del) c.1330+408_1330+465del (n.1330+408_1330+465del) c.1074-568_1074-511del (n.1074-568_1074-511del) n.1104+770_1104+827del c.*1044+408_*1044+465del (n.*1044+408_*1044+465del) n.1177+408_1177+465del c.1146+408_1146+465del (n.1146+408_1146+465del) n.1385_1442del n.2912-568_2912-511del c.*556+408_*556+465del (n.*556+408_*556+465del) c.*86+408_*86+465del (n.*86+408_*86+465del) c.1594+408_1594+465del (n.1594+408_1594+465del) c.*14-568_*14-511del (n.*14-568_*14-511del) c.*812+408_*812+465del (n.*812+408_*812+465del) c.1477+408_1477+465del (n.1477+408_1477+465del) c.413-953_413-896del (n.413-953_413-896del) c.825+770_825+827del (n.825+770_825+827del) c.1179+408_1179+465del (n.1179+408_1179+465del) c.945+770_945+827del c.*667+408_*667+465del (n.*667+408_*667+465del) n.6550+408_6550+465del n.1574+770_1574+827del n.1115+770_1115+827del | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347221_72347283del | CA618766169 | HEXA | c.1073+765_1073+827del (n.1073+765_1073+827del) c.*808+403_*808+465del (n.*808+403_*808+465del) c.1189+403_1189+465del (n.1189+403_1189+465del) c.1252+403_1252+465del (n.1252+403_1252+465del) n.1466+403_1466+465del c.*483+765_*483+827del (n.*483+765_*483+827del) c.*949+403_*949+465del (n.*949+403_*949+465del) c.*971+765_*971+827del (n.*971+765_*971+827del) c.1330+403_1330+465del (n.1330+403_1330+465del) c.1074-573_1074-511del (n.1074-573_1074-511del) n.1104+765_1104+827del c.*1044+403_*1044+465del (n.*1044+403_*1044+465del) n.1177+403_1177+465del c.1146+403_1146+465del (n.1146+403_1146+465del) n.1380_1442del n.2912-573_2912-511del c.*556+403_*556+465del (n.*556+403_*556+465del) c.*86+403_*86+465del (n.*86+403_*86+465del) c.1594+403_1594+465del (n.1594+403_1594+465del) c.*14-573_*14-511del (n.*14-573_*14-511del) c.*812+403_*812+465del (n.*812+403_*812+465del) c.1477+403_1477+465del (n.1477+403_1477+465del) c.413-958_413-896del (n.413-958_413-896del) c.825+765_825+827del (n.825+765_825+827del) c.1179+403_1179+465del (n.1179+403_1179+465del) c.945+765_945+827del c.*667+403_*667+465del (n.*667+403_*667+465del) n.6550+403_6550+465del n.1574+765_1574+827del n.1115+765_1115+827del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347222T>C | CA272610595 | HEXA | c.1073+826A>G (n.1073+826A>G) c.*808+464A>G (n.*808+464A>G) c.1189+464A>G (n.1189+464A>G) c.1252+464A>G (n.1252+464A>G) n.1466+464A>G c.*483+826A>G (n.*483+826A>G) c.*949+464A>G (n.*949+464A>G) c.*971+826A>G (n.*971+826A>G) c.1330+464A>G (n.1330+464A>G) c.1074-512A>G (n.1074-512A>G) n.1104+826A>G c.*1044+464A>G (n.*1044+464A>G) n.1177+464A>G c.1146+464A>G (n.1146+464A>G) n.1441A>G n.2912-512A>G c.*556+464A>G (n.*556+464A>G) c.*86+464A>G (n.*86+464A>G) c.1594+464A>G (n.1594+464A>G) c.*14-512A>G (n.*14-512A>G) c.*812+464A>G (n.*812+464A>G) c.1477+464A>G (n.1477+464A>G) c.413-897A>G (n.413-897A>G) c.825+826A>G (n.825+826A>G) c.1179+464A>G (n.1179+464A>G) c.945+826A>G c.*667+464A>G (n.*667+464A>G) n.6550+464A>G n.1574+826A>G n.1115+826A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347222T= | CA2186744011 | HEXA | c.1073+826A= (n.1073+826A=) c.*808+464A= (n.*808+464A=) c.1189+464A= (n.1189+464A=) c.1252+464A= (n.1252+464A=) n.1466+464A= c.*483+826A= (n.*483+826A=) c.*949+464A= (n.*949+464A=) c.*971+826A= (n.*971+826A=) c.1330+464A= (n.1330+464A=) c.1074-512A= (n.1074-512A=) n.1104+826A= c.*1044+464A= (n.*1044+464A=) n.1177+464A= c.1146+464A= (n.1146+464A=) n.1441A= n.2912-512A= c.*556+464A= (n.*556+464A=) c.*86+464A= (n.*86+464A=) c.1594+464A= (n.1594+464A=) c.*14-512A= (n.*14-512A=) c.*812+464A= (n.*812+464A=) c.1477+464A= (n.1477+464A=) c.413-897A= (n.413-897A=) c.825+826A= (n.825+826A=) c.1179+464A= (n.1179+464A=) c.945+826A= c.*667+464A= (n.*667+464A=) n.6550+464A= n.1574+826A= n.1115+826A= | |
15 | g.72347222_72347224delinsTAG | CA2186744013 | HEXA | c.1073+824_1073+826delinsCTA (n.1073+824_1073+826delinsCTA) c.*808+462_*808+464delinsCTA (n.*808+462_*808+464delinsCTA) c.1189+462_1189+464delinsCTA (n.1189+462_1189+464delinsCTA) c.1252+462_1252+464delinsCTA (n.1252+462_1252+464delinsCTA) n.1466+462_1466+464delinsCTA c.*483+824_*483+826delinsCTA (n.*483+824_*483+826delinsCTA) c.*949+462_*949+464delinsCTA (n.*949+462_*949+464delinsCTA) c.*971+824_*971+826delinsCTA (n.*971+824_*971+826delinsCTA) c.1330+462_1330+464delinsCTA (n.1330+462_1330+464delinsCTA) c.1074-514_1074-512delinsCTA (n.1074-514_1074-512delinsCTA) n.1104+824_1104+826delinsCTA c.*1044+462_*1044+464delinsCTA (n.*1044+462_*1044+464delinsCTA) n.1177+462_1177+464delinsCTA c.1146+462_1146+464delinsCTA (n.1146+462_1146+464delinsCTA) n.1439_1441delinsCTA n.2912-514_2912-512delinsCTA c.*556+462_*556+464delinsCTA (n.*556+462_*556+464delinsCTA) c.*86+462_*86+464delinsCTA (n.*86+462_*86+464delinsCTA) c.1594+462_1594+464delinsCTA (n.1594+462_1594+464delinsCTA) c.*14-514_*14-512delinsCTA (n.*14-514_*14-512delinsCTA) c.*812+462_*812+464delinsCTA (n.*812+462_*812+464delinsCTA) c.1477+462_1477+464delinsCTA (n.1477+462_1477+464delinsCTA) c.413-899_413-897delinsCTA (n.413-899_413-897delinsCTA) c.825+824_825+826delinsCTA (n.825+824_825+826delinsCTA) c.1179+462_1179+464delinsCTA (n.1179+462_1179+464delinsCTA) c.945+824_945+826delinsCTA c.*667+462_*667+464delinsCTA (n.*667+462_*667+464delinsCTA) n.6550+462_6550+464delinsCTA n.1574+824_1574+826delinsCTA n.1115+824_1115+826delinsCTA | |
15 | g.72347222_72347241delinsTAGTGAGGGAAGATAGAAAC | CA2186744012 | HEXA | c.1073+807_1073+826delinsGTTTCTATCTTCCCTCACTA (n.1073+807_1073+826delinsGTTTCTATCTTCCCTCACTA) c.*808+445_*808+464delinsGTTTCTATCTTCCCTCACTA (n.*808+445_*808+464delinsGTTTCTATCTTCCCTCACTA) c.1189+445_1189+464delinsGTTTCTATCTTCCCTCACTA (n.1189+445_1189+464delinsGTTTCTATCTTCCCTCACTA) c.1252+445_1252+464delinsGTTTCTATCTTCCCTCACTA (n.1252+445_1252+464delinsGTTTCTATCTTCCCTCACTA) n.1466+445_1466+464delinsGTTTCTATCTTCCCTCACTA c.*483+807_*483+826delinsGTTTCTATCTTCCCTCACTA (n.*483+807_*483+826delinsGTTTCTATCTTCCCTCACTA) c.*949+445_*949+464delinsGTTTCTATCTTCCCTCACTA (n.*949+445_*949+464delinsGTTTCTATCTTCCCTCACTA) c.*971+807_*971+826delinsGTTTCTATCTTCCCTCACTA (n.*971+807_*971+826delinsGTTTCTATCTTCCCTCACTA) c.1330+445_1330+464delinsGTTTCTATCTTCCCTCACTA (n.1330+445_1330+464delinsGTTTCTATCTTCCCTCACTA) c.1074-531_1074-512delinsGTTTCTATCTTCCCTCACTA (n.1074-531_1074-512delinsGTTTCTATCTTCCCTCACTA) n.1104+807_1104+826delinsGTTTCTATCTTCCCTCACTA c.*1044+445_*1044+464delinsGTTTCTATCTTCCCTCACTA (n.*1044+445_*1044+464delinsGTTTCTATCTTCCCTCACTA) n.1177+445_1177+464delinsGTTTCTATCTTCCCTCACTA c.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA (n.1146+445_1146+464delinsGTTTCTATCTTCCCTCACTA) n.1422_1441delinsGTTTCTATCTTCCCTCACTA n.2912-531_2912-512delinsGTTTCTATCTTCCCTCACTA c.*556+445_*556+464delinsGTTTCTATCTTCCCTCACTA (n.*556+445_*556+464delinsGTTTCTATCTTCCCTCACTA) c.*86+445_*86+464delinsGTTTCTATCTTCCCTCACTA (n.*86+445_*86+464delinsGTTTCTATCTTCCCTCACTA) c.1594+445_1594+464delinsGTTTCTATCTTCCCTCACTA (n.1594+445_1594+464delinsGTTTCTATCTTCCCTCACTA) c.*14-531_*14-512delinsGTTTCTATCTTCCCTCACTA (n.*14-531_*14-512delinsGTTTCTATCTTCCCTCACTA) c.*812+445_*812+464delinsGTTTCTATCTTCCCTCACTA (n.*812+445_*812+464delinsGTTTCTATCTTCCCTCACTA) c.1477+445_1477+464delinsGTTTCTATCTTCCCTCACTA (n.1477+445_1477+464delinsGTTTCTATCTTCCCTCACTA) c.413-916_413-897delinsGTTTCTATCTTCCCTCACTA (n.413-916_413-897delinsGTTTCTATCTTCCCTCACTA) c.825+807_825+826delinsGTTTCTATCTTCCCTCACTA (n.825+807_825+826delinsGTTTCTATCTTCCCTCACTA) c.1179+445_1179+464delinsGTTTCTATCTTCCCTCACTA (n.1179+445_1179+464delinsGTTTCTATCTTCCCTCACTA) c.945+807_945+826delinsGTTTCTATCTTCCCTCACTA c.*667+445_*667+464delinsGTTTCTATCTTCCCTCACTA (n.*667+445_*667+464delinsGTTTCTATCTTCCCTCACTA) n.6550+445_6550+464delinsGTTTCTATCTTCCCTCACTA n.1574+807_1574+826delinsGTTTCTATCTTCCCTCACTA n.1115+807_1115+826delinsGTTTCTATCTTCCCTCACTA | |
15 | g.72347223A= | CA2186744014 | HEXA | c.1073+825T= (n.1073+825T=) c.*808+463T= (n.*808+463T=) c.1189+463T= (n.1189+463T=) c.1252+463T= (n.1252+463T=) n.1466+463T= c.*483+825T= (n.*483+825T=) c.*949+463T= (n.*949+463T=) c.*971+825T= (n.*971+825T=) c.1330+463T= (n.1330+463T=) c.1074-513T= (n.1074-513T=) n.1104+825T= c.*1044+463T= (n.*1044+463T=) n.1177+463T= c.1146+463T= (n.1146+463T=) n.1440T= n.2912-513T= c.*556+463T= (n.*556+463T=) c.*86+463T= (n.*86+463T=) c.1594+463T= (n.1594+463T=) c.*14-513T= (n.*14-513T=) c.*812+463T= (n.*812+463T=) c.1477+463T= (n.1477+463T=) c.413-898T= (n.413-898T=) c.825+825T= (n.825+825T=) c.1179+463T= (n.1179+463T=) c.945+825T= c.*667+463T= (n.*667+463T=) n.6550+463T= n.1574+825T= n.1115+825T= | |
15 | g.72347223A>C | CA2804700067 | HEXA | c.1073+825T>G (n.1073+825T>G) c.*808+463T>G (n.*808+463T>G) c.1189+463T>G (n.1189+463T>G) c.1252+463T>G (n.1252+463T>G) n.1466+463T>G c.*483+825T>G (n.*483+825T>G) c.*949+463T>G (n.*949+463T>G) c.*971+825T>G (n.*971+825T>G) c.1330+463T>G (n.1330+463T>G) c.1074-513T>G (n.1074-513T>G) n.1104+825T>G c.*1044+463T>G (n.*1044+463T>G) n.1177+463T>G c.1146+463T>G (n.1146+463T>G) n.1440T>G n.2912-513T>G c.*556+463T>G (n.*556+463T>G) c.*86+463T>G (n.*86+463T>G) c.1594+463T>G (n.1594+463T>G) c.*14-513T>G (n.*14-513T>G) c.*812+463T>G (n.*812+463T>G) c.1477+463T>G (n.1477+463T>G) c.413-898T>G (n.413-898T>G) c.825+825T>G (n.825+825T>G) c.1179+463T>G (n.1179+463T>G) c.945+825T>G c.*667+463T>G (n.*667+463T>G) n.6550+463T>G n.1574+825T>G n.1115+825T>G | |
15 | g.72347223A>G | CA2563260848 | HEXA | c.1073+825T>C (n.1073+825T>C) c.*808+463T>C (n.*808+463T>C) c.1189+463T>C (n.1189+463T>C) c.1252+463T>C (n.1252+463T>C) n.1466+463T>C c.*483+825T>C (n.*483+825T>C) c.*949+463T>C (n.*949+463T>C) c.*971+825T>C (n.*971+825T>C) c.1330+463T>C (n.1330+463T>C) c.1074-513T>C (n.1074-513T>C) n.1104+825T>C c.*1044+463T>C (n.*1044+463T>C) n.1177+463T>C c.1146+463T>C (n.1146+463T>C) n.1440T>C n.2912-513T>C c.*556+463T>C (n.*556+463T>C) c.*86+463T>C (n.*86+463T>C) c.1594+463T>C (n.1594+463T>C) c.*14-513T>C (n.*14-513T>C) c.*812+463T>C (n.*812+463T>C) c.1477+463T>C (n.1477+463T>C) c.413-898T>C (n.413-898T>C) c.825+825T>C (n.825+825T>C) c.1179+463T>C (n.1179+463T>C) c.945+825T>C c.*667+463T>C (n.*667+463T>C) n.6550+463T>C n.1574+825T>C n.1115+825T>C | |
15 | g.72347223A>T | CA618766176 | HEXA | c.1073+825T>A (n.1073+825T>A) c.*808+463T>A (n.*808+463T>A) c.1189+463T>A (n.1189+463T>A) c.1252+463T>A (n.1252+463T>A) n.1466+463T>A c.*483+825T>A (n.*483+825T>A) c.*949+463T>A (n.*949+463T>A) c.*971+825T>A (n.*971+825T>A) c.1330+463T>A (n.1330+463T>A) c.1074-513T>A (n.1074-513T>A) n.1104+825T>A c.*1044+463T>A (n.*1044+463T>A) n.1177+463T>A c.1146+463T>A (n.1146+463T>A) n.1440T>A n.2912-513T>A c.*556+463T>A (n.*556+463T>A) c.*86+463T>A (n.*86+463T>A) c.1594+463T>A (n.1594+463T>A) c.*14-513T>A (n.*14-513T>A) c.*812+463T>A (n.*812+463T>A) c.1477+463T>A (n.1477+463T>A) c.413-898T>A (n.413-898T>A) c.825+825T>A (n.825+825T>A) c.1179+463T>A (n.1179+463T>A) c.945+825T>A c.*667+463T>A (n.*667+463T>A) n.6550+463T>A n.1574+825T>A n.1115+825T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347223_72347224del | CA618766175 | HEXA | c.1073+824_1073+825del (n.1073+824_1073+825del) c.*808+462_*808+463del (n.*808+462_*808+463del) c.1189+462_1189+463del (n.1189+462_1189+463del) c.1252+462_1252+463del (n.1252+462_1252+463del) n.1466+462_1466+463del c.*483+824_*483+825del (n.*483+824_*483+825del) c.*949+462_*949+463del (n.*949+462_*949+463del) c.*971+824_*971+825del (n.*971+824_*971+825del) c.1330+462_1330+463del (n.1330+462_1330+463del) c.1074-514_1074-513del (n.1074-514_1074-513del) n.1104+824_1104+825del c.*1044+462_*1044+463del (n.*1044+462_*1044+463del) n.1177+462_1177+463del c.1146+462_1146+463del (n.1146+462_1146+463del) n.1439_1440del n.2912-514_2912-513del c.*556+462_*556+463del (n.*556+462_*556+463del) c.*86+462_*86+463del (n.*86+462_*86+463del) c.1594+462_1594+463del (n.1594+462_1594+463del) c.*14-514_*14-513del (n.*14-514_*14-513del) c.*812+462_*812+463del (n.*812+462_*812+463del) c.1477+462_1477+463del (n.1477+462_1477+463del) c.413-899_413-898del (n.413-899_413-898del) c.825+824_825+825del (n.825+824_825+825del) c.1179+462_1179+463del (n.1179+462_1179+463del) c.945+824_945+825del c.*667+462_*667+463del (n.*667+462_*667+463del) n.6550+462_6550+463del n.1574+824_1574+825del n.1115+824_1115+825del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347223_72347241del | CA618766177 | HEXA | c.1073+807_1073+825del (n.1073+807_1073+825del) c.*808+445_*808+463del (n.*808+445_*808+463del) c.1189+445_1189+463del (n.1189+445_1189+463del) c.1252+445_1252+463del (n.1252+445_1252+463del) n.1466+445_1466+463del c.*483+807_*483+825del (n.*483+807_*483+825del) c.*949+445_*949+463del (n.*949+445_*949+463del) c.*971+807_*971+825del (n.*971+807_*971+825del) c.1330+445_1330+463del (n.1330+445_1330+463del) c.1074-531_1074-513del (n.1074-531_1074-513del) n.1104+807_1104+825del c.*1044+445_*1044+463del (n.*1044+445_*1044+463del) n.1177+445_1177+463del c.1146+445_1146+463del (n.1146+445_1146+463del) n.1422_1440del n.2912-531_2912-513del c.*556+445_*556+463del (n.*556+445_*556+463del) c.*86+445_*86+463del (n.*86+445_*86+463del) c.1594+445_1594+463del (n.1594+445_1594+463del) c.*14-531_*14-513del (n.*14-531_*14-513del) c.*812+445_*812+463del (n.*812+445_*812+463del) c.1477+445_1477+463del (n.1477+445_1477+463del) c.413-916_413-898del (n.413-916_413-898del) c.825+807_825+825del (n.825+807_825+825del) c.1179+445_1179+463del (n.1179+445_1179+463del) c.945+807_945+825del c.*667+445_*667+463del (n.*667+445_*667+463del) n.6550+445_6550+463del n.1574+807_1574+825del n.1115+807_1115+825del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347223_72347278del | CA618766174 | HEXA | c.1073+770_1073+825del (n.1073+770_1073+825del) c.*808+408_*808+463del (n.*808+408_*808+463del) c.1189+408_1189+463del (n.1189+408_1189+463del) c.1252+408_1252+463del (n.1252+408_1252+463del) n.1466+408_1466+463del c.*483+770_*483+825del (n.*483+770_*483+825del) c.*949+408_*949+463del (n.*949+408_*949+463del) c.*971+770_*971+825del (n.*971+770_*971+825del) c.1330+408_1330+463del (n.1330+408_1330+463del) c.1074-568_1074-513del (n.1074-568_1074-513del) n.1104+770_1104+825del c.*1044+408_*1044+463del (n.*1044+408_*1044+463del) n.1177+408_1177+463del c.1146+408_1146+463del (n.1146+408_1146+463del) n.1385_1440del n.2912-568_2912-513del c.*556+408_*556+463del (n.*556+408_*556+463del) c.*86+408_*86+463del (n.*86+408_*86+463del) c.1594+408_1594+463del (n.1594+408_1594+463del) c.*14-568_*14-513del (n.*14-568_*14-513del) c.*812+408_*812+463del (n.*812+408_*812+463del) c.1477+408_1477+463del (n.1477+408_1477+463del) c.413-953_413-898del (n.413-953_413-898del) c.825+770_825+825del (n.825+770_825+825del) c.1179+408_1179+463del (n.1179+408_1179+463del) c.945+770_945+825del c.*667+408_*667+463del (n.*667+408_*667+463del) n.6550+408_6550+463del n.1574+770_1574+825del n.1115+770_1115+825del | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347224G= | CA2186744015 | HEXA | c.1073+824C= (n.1073+824C=) c.*808+462C= (n.*808+462C=) c.1189+462C= (n.1189+462C=) c.1252+462C= (n.1252+462C=) n.1466+462C= c.*483+824C= (n.*483+824C=) c.*949+462C= (n.*949+462C=) c.*971+824C= (n.*971+824C=) c.1330+462C= (n.1330+462C=) c.1074-514C= (n.1074-514C=) n.1104+824C= c.*1044+462C= (n.*1044+462C=) n.1177+462C= c.1146+462C= (n.1146+462C=) n.1439C= n.2912-514C= c.*556+462C= (n.*556+462C=) c.*86+462C= (n.*86+462C=) c.1594+462C= (n.1594+462C=) c.*14-514C= (n.*14-514C=) c.*812+462C= (n.*812+462C=) c.1477+462C= (n.1477+462C=) c.413-899C= (n.413-899C=) c.825+824C= (n.825+824C=) c.1179+462C= (n.1179+462C=) c.945+824C= c.*667+462C= (n.*667+462C=) n.6550+462C= n.1574+824C= n.1115+824C= | |
15 | g.72347224G>T | CA618766178 | HEXA | c.1073+824C>A (n.1073+824C>A) c.*808+462C>A (n.*808+462C>A) c.1189+462C>A (n.1189+462C>A) c.1252+462C>A (n.1252+462C>A) n.1466+462C>A c.*483+824C>A (n.*483+824C>A) c.*949+462C>A (n.*949+462C>A) c.*971+824C>A (n.*971+824C>A) c.1330+462C>A (n.1330+462C>A) c.1074-514C>A (n.1074-514C>A) n.1104+824C>A c.*1044+462C>A (n.*1044+462C>A) n.1177+462C>A c.1146+462C>A (n.1146+462C>A) n.1439C>A n.2912-514C>A c.*556+462C>A (n.*556+462C>A) c.*86+462C>A (n.*86+462C>A) c.1594+462C>A (n.1594+462C>A) c.*14-514C>A (n.*14-514C>A) c.*812+462C>A (n.*812+462C>A) c.1477+462C>A (n.1477+462C>A) c.413-899C>A (n.413-899C>A) c.825+824C>A (n.825+824C>A) c.1179+462C>A (n.1179+462C>A) c.945+824C>A c.*667+462C>A (n.*667+462C>A) n.6550+462C>A n.1574+824C>A n.1115+824C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347225T>G | CA2538671297 | HEXA | c.1073+823A>C (n.1073+823A>C) c.*808+461A>C (n.*808+461A>C) c.1189+461A>C (n.1189+461A>C) c.1252+461A>C (n.1252+461A>C) n.1466+461A>C c.*483+823A>C (n.*483+823A>C) c.*949+461A>C (n.*949+461A>C) c.*971+823A>C (n.*971+823A>C) c.1330+461A>C (n.1330+461A>C) c.1074-515A>C (n.1074-515A>C) n.1104+823A>C c.*1044+461A>C (n.*1044+461A>C) n.1177+461A>C c.1146+461A>C (n.1146+461A>C) n.1438A>C n.2912-515A>C c.*556+461A>C (n.*556+461A>C) c.*86+461A>C (n.*86+461A>C) c.1594+461A>C (n.1594+461A>C) c.*14-515A>C (n.*14-515A>C) c.*812+461A>C (n.*812+461A>C) c.1477+461A>C (n.1477+461A>C) c.413-900A>C (n.413-900A>C) c.825+823A>C (n.825+823A>C) c.1179+461A>C (n.1179+461A>C) c.945+823A>C c.*667+461A>C (n.*667+461A>C) n.6550+461A>C n.1574+823A>C n.1115+823A>C | |
15 | g.72347225_72347226insTTTTTTTTTTTTTTTTT | CA971330846 | HEXA | c.1073+823_1073+824insAAAAAAAAAAAAAAAAA (n.1073+823_1073+824insAAAAAAAAAAAAAAAAA) c.*808+461_*808+462insAAAAAAAAAAAAAAAAA (n.*808+461_*808+462insAAAAAAAAAAAAAAAAA) c.1189+461_1189+462insAAAAAAAAAAAAAAAAA (n.1189+461_1189+462insAAAAAAAAAAAAAAAAA) c.1252+461_1252+462insAAAAAAAAAAAAAAAAA (n.1252+461_1252+462insAAAAAAAAAAAAAAAAA) n.1466+461_1466+462insAAAAAAAAAAAAAAAAA c.*483+823_*483+824insAAAAAAAAAAAAAAAAA (n.*483+823_*483+824insAAAAAAAAAAAAAAAAA) c.*949+461_*949+462insAAAAAAAAAAAAAAAAA (n.*949+461_*949+462insAAAAAAAAAAAAAAAAA) c.*971+823_*971+824insAAAAAAAAAAAAAAAAA (n.*971+823_*971+824insAAAAAAAAAAAAAAAAA) c.1330+461_1330+462insAAAAAAAAAAAAAAAAA (n.1330+461_1330+462insAAAAAAAAAAAAAAAAA) c.1074-515_1074-514insAAAAAAAAAAAAAAAAA (n.1074-515_1074-514insAAAAAAAAAAAAAAAAA) n.1104+823_1104+824insAAAAAAAAAAAAAAAAA c.*1044+461_*1044+462insAAAAAAAAAAAAAAAAA (n.*1044+461_*1044+462insAAAAAAAAAAAAAAAAA) n.1177+461_1177+462insAAAAAAAAAAAAAAAAA c.1146+461_1146+462insAAAAAAAAAAAAAAAAA (n.1146+461_1146+462insAAAAAAAAAAAAAAAAA) n.1438_1439insAAAAAAAAAAAAAAAAA n.2912-515_2912-514insAAAAAAAAAAAAAAAAA c.*556+461_*556+462insAAAAAAAAAAAAAAAAA (n.*556+461_*556+462insAAAAAAAAAAAAAAAAA) c.*86+461_*86+462insAAAAAAAAAAAAAAAAA (n.*86+461_*86+462insAAAAAAAAAAAAAAAAA) c.1594+461_1594+462insAAAAAAAAAAAAAAAAA (n.1594+461_1594+462insAAAAAAAAAAAAAAAAA) c.*14-515_*14-514insAAAAAAAAAAAAAAAAA (n.*14-515_*14-514insAAAAAAAAAAAAAAAAA) c.*812+461_*812+462insAAAAAAAAAAAAAAAAA (n.*812+461_*812+462insAAAAAAAAAAAAAAAAA) c.1477+461_1477+462insAAAAAAAAAAAAAAAAA (n.1477+461_1477+462insAAAAAAAAAAAAAAAAA) c.413-900_413-899insAAAAAAAAAAAAAAAAA (n.413-900_413-899insAAAAAAAAAAAAAAAAA) c.825+823_825+824insAAAAAAAAAAAAAAAAA (n.825+823_825+824insAAAAAAAAAAAAAAAAA) c.1179+461_1179+462insAAAAAAAAAAAAAAAAA (n.1179+461_1179+462insAAAAAAAAAAAAAAAAA) c.945+823_945+824insAAAAAAAAAAAAAAAAA c.*667+461_*667+462insAAAAAAAAAAAAAAAAA (n.*667+461_*667+462insAAAAAAAAAAAAAAAAA) n.6550+461_6550+462insAAAAAAAAAAAAAAAAA n.1574+823_1574+824insAAAAAAAAAAAAAAAAA n.1115+823_1115+824insAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347225_72347226insTTTTTTTTTTTTTTTTTT | CA971330847 | HEXA | c.1073+823_1073+824insAAAAAAAAAAAAAAAAAA (n.1073+823_1073+824insAAAAAAAAAAAAAAAAAA) c.*808+461_*808+462insAAAAAAAAAAAAAAAAAA (n.*808+461_*808+462insAAAAAAAAAAAAAAAAAA) c.1189+461_1189+462insAAAAAAAAAAAAAAAAAA (n.1189+461_1189+462insAAAAAAAAAAAAAAAAAA) c.1252+461_1252+462insAAAAAAAAAAAAAAAAAA (n.1252+461_1252+462insAAAAAAAAAAAAAAAAAA) n.1466+461_1466+462insAAAAAAAAAAAAAAAAAA c.*483+823_*483+824insAAAAAAAAAAAAAAAAAA (n.*483+823_*483+824insAAAAAAAAAAAAAAAAAA) c.*949+461_*949+462insAAAAAAAAAAAAAAAAAA (n.*949+461_*949+462insAAAAAAAAAAAAAAAAAA) c.*971+823_*971+824insAAAAAAAAAAAAAAAAAA (n.*971+823_*971+824insAAAAAAAAAAAAAAAAAA) c.1330+461_1330+462insAAAAAAAAAAAAAAAAAA (n.1330+461_1330+462insAAAAAAAAAAAAAAAAAA) c.1074-515_1074-514insAAAAAAAAAAAAAAAAAA (n.1074-515_1074-514insAAAAAAAAAAAAAAAAAA) n.1104+823_1104+824insAAAAAAAAAAAAAAAAAA c.*1044+461_*1044+462insAAAAAAAAAAAAAAAAAA (n.*1044+461_*1044+462insAAAAAAAAAAAAAAAAAA) n.1177+461_1177+462insAAAAAAAAAAAAAAAAAA c.1146+461_1146+462insAAAAAAAAAAAAAAAAAA (n.1146+461_1146+462insAAAAAAAAAAAAAAAAAA) n.1438_1439insAAAAAAAAAAAAAAAAAA n.2912-515_2912-514insAAAAAAAAAAAAAAAAAA c.*556+461_*556+462insAAAAAAAAAAAAAAAAAA (n.*556+461_*556+462insAAAAAAAAAAAAAAAAAA) c.*86+461_*86+462insAAAAAAAAAAAAAAAAAA (n.*86+461_*86+462insAAAAAAAAAAAAAAAAAA) c.1594+461_1594+462insAAAAAAAAAAAAAAAAAA (n.1594+461_1594+462insAAAAAAAAAAAAAAAAAA) c.*14-515_*14-514insAAAAAAAAAAAAAAAAAA (n.*14-515_*14-514insAAAAAAAAAAAAAAAAAA) c.*812+461_*812+462insAAAAAAAAAAAAAAAAAA (n.*812+461_*812+462insAAAAAAAAAAAAAAAAAA) c.1477+461_1477+462insAAAAAAAAAAAAAAAAAA (n.1477+461_1477+462insAAAAAAAAAAAAAAAAAA) c.413-900_413-899insAAAAAAAAAAAAAAAAAA (n.413-900_413-899insAAAAAAAAAAAAAAAAAA) c.825+823_825+824insAAAAAAAAAAAAAAAAAA (n.825+823_825+824insAAAAAAAAAAAAAAAAAA) c.1179+461_1179+462insAAAAAAAAAAAAAAAAAA (n.1179+461_1179+462insAAAAAAAAAAAAAAAAAA) c.945+823_945+824insAAAAAAAAAAAAAAAAAA c.*667+461_*667+462insAAAAAAAAAAAAAAAAAA (n.*667+461_*667+462insAAAAAAAAAAAAAAAAAA) n.6550+461_6550+462insAAAAAAAAAAAAAAAAAA n.1574+823_1574+824insAAAAAAAAAAAAAAAAAA n.1115+823_1115+824insAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347225_72347234delinsTGAGGGAAGA | CA2186744017 | HEXA | c.1073+814_1073+823delinsTCTTCCCTCA (n.1073+814_1073+823delinsTCTTCCCTCA) c.*808+452_*808+461delinsTCTTCCCTCA (n.*808+452_*808+461delinsTCTTCCCTCA) c.1189+452_1189+461delinsTCTTCCCTCA (n.1189+452_1189+461delinsTCTTCCCTCA) c.1252+452_1252+461delinsTCTTCCCTCA (n.1252+452_1252+461delinsTCTTCCCTCA) n.1466+452_1466+461delinsTCTTCCCTCA c.*483+814_*483+823delinsTCTTCCCTCA (n.*483+814_*483+823delinsTCTTCCCTCA) c.*949+452_*949+461delinsTCTTCCCTCA (n.*949+452_*949+461delinsTCTTCCCTCA) c.*971+814_*971+823delinsTCTTCCCTCA (n.*971+814_*971+823delinsTCTTCCCTCA) c.1330+452_1330+461delinsTCTTCCCTCA (n.1330+452_1330+461delinsTCTTCCCTCA) c.1074-524_1074-515delinsTCTTCCCTCA (n.1074-524_1074-515delinsTCTTCCCTCA) n.1104+814_1104+823delinsTCTTCCCTCA c.*1044+452_*1044+461delinsTCTTCCCTCA (n.*1044+452_*1044+461delinsTCTTCCCTCA) n.1177+452_1177+461delinsTCTTCCCTCA c.1146+452_1146+461delinsTCTTCCCTCA (n.1146+452_1146+461delinsTCTTCCCTCA) n.1429_1438delinsTCTTCCCTCA n.2912-524_2912-515delinsTCTTCCCTCA c.*556+452_*556+461delinsTCTTCCCTCA (n.*556+452_*556+461delinsTCTTCCCTCA) c.*86+452_*86+461delinsTCTTCCCTCA (n.*86+452_*86+461delinsTCTTCCCTCA) c.1594+452_1594+461delinsTCTTCCCTCA (n.1594+452_1594+461delinsTCTTCCCTCA) c.*14-524_*14-515delinsTCTTCCCTCA (n.*14-524_*14-515delinsTCTTCCCTCA) c.*812+452_*812+461delinsTCTTCCCTCA (n.*812+452_*812+461delinsTCTTCCCTCA) c.1477+452_1477+461delinsTCTTCCCTCA (n.1477+452_1477+461delinsTCTTCCCTCA) c.413-909_413-900delinsTCTTCCCTCA (n.413-909_413-900delinsTCTTCCCTCA) c.825+814_825+823delinsTCTTCCCTCA (n.825+814_825+823delinsTCTTCCCTCA) c.1179+452_1179+461delinsTCTTCCCTCA (n.1179+452_1179+461delinsTCTTCCCTCA) c.945+814_945+823delinsTCTTCCCTCA c.*667+452_*667+461delinsTCTTCCCTCA (n.*667+452_*667+461delinsTCTTCCCTCA) n.6550+452_6550+461delinsTCTTCCCTCA n.1574+814_1574+823delinsTCTTCCCTCA n.1115+814_1115+823delinsTCTTCCCTCA | |
15 | g.72347225_72347241delinsTGAGGGAAGATAGAAAC | CA2186744016 | HEXA | c.1073+807_1073+823delinsGTTTCTATCTTCCCTCA (n.1073+807_1073+823delinsGTTTCTATCTTCCCTCA) c.*808+445_*808+461delinsGTTTCTATCTTCCCTCA (n.*808+445_*808+461delinsGTTTCTATCTTCCCTCA) c.1189+445_1189+461delinsGTTTCTATCTTCCCTCA (n.1189+445_1189+461delinsGTTTCTATCTTCCCTCA) c.1252+445_1252+461delinsGTTTCTATCTTCCCTCA (n.1252+445_1252+461delinsGTTTCTATCTTCCCTCA) n.1466+445_1466+461delinsGTTTCTATCTTCCCTCA c.*483+807_*483+823delinsGTTTCTATCTTCCCTCA (n.*483+807_*483+823delinsGTTTCTATCTTCCCTCA) c.*949+445_*949+461delinsGTTTCTATCTTCCCTCA (n.*949+445_*949+461delinsGTTTCTATCTTCCCTCA) c.*971+807_*971+823delinsGTTTCTATCTTCCCTCA (n.*971+807_*971+823delinsGTTTCTATCTTCCCTCA) c.1330+445_1330+461delinsGTTTCTATCTTCCCTCA (n.1330+445_1330+461delinsGTTTCTATCTTCCCTCA) c.1074-531_1074-515delinsGTTTCTATCTTCCCTCA (n.1074-531_1074-515delinsGTTTCTATCTTCCCTCA) n.1104+807_1104+823delinsGTTTCTATCTTCCCTCA c.*1044+445_*1044+461delinsGTTTCTATCTTCCCTCA (n.*1044+445_*1044+461delinsGTTTCTATCTTCCCTCA) n.1177+445_1177+461delinsGTTTCTATCTTCCCTCA c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA (n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA) n.1422_1438delinsGTTTCTATCTTCCCTCA n.2912-531_2912-515delinsGTTTCTATCTTCCCTCA c.*556+445_*556+461delinsGTTTCTATCTTCCCTCA (n.*556+445_*556+461delinsGTTTCTATCTTCCCTCA) c.*86+445_*86+461delinsGTTTCTATCTTCCCTCA (n.*86+445_*86+461delinsGTTTCTATCTTCCCTCA) c.1594+445_1594+461delinsGTTTCTATCTTCCCTCA (n.1594+445_1594+461delinsGTTTCTATCTTCCCTCA) c.*14-531_*14-515delinsGTTTCTATCTTCCCTCA (n.*14-531_*14-515delinsGTTTCTATCTTCCCTCA) c.*812+445_*812+461delinsGTTTCTATCTTCCCTCA (n.*812+445_*812+461delinsGTTTCTATCTTCCCTCA) c.1477+445_1477+461delinsGTTTCTATCTTCCCTCA (n.1477+445_1477+461delinsGTTTCTATCTTCCCTCA) c.413-916_413-900delinsGTTTCTATCTTCCCTCA (n.413-916_413-900delinsGTTTCTATCTTCCCTCA) c.825+807_825+823delinsGTTTCTATCTTCCCTCA (n.825+807_825+823delinsGTTTCTATCTTCCCTCA) c.1179+445_1179+461delinsGTTTCTATCTTCCCTCA (n.1179+445_1179+461delinsGTTTCTATCTTCCCTCA) c.945+807_945+823delinsGTTTCTATCTTCCCTCA c.*667+445_*667+461delinsGTTTCTATCTTCCCTCA (n.*667+445_*667+461delinsGTTTCTATCTTCCCTCA) n.6550+445_6550+461delinsGTTTCTATCTTCCCTCA n.1574+807_1574+823delinsGTTTCTATCTTCCCTCA n.1115+807_1115+823delinsGTTTCTATCTTCCCTCA | |
15 | g.72347226_72347234del | CA618766180 | HEXA | c.1073+814_1073+822del (n.1073+814_1073+822del) c.*808+452_*808+460del (n.*808+452_*808+460del) c.1189+452_1189+460del (n.1189+452_1189+460del) c.1252+452_1252+460del (n.1252+452_1252+460del) n.1466+452_1466+460del c.*483+814_*483+822del (n.*483+814_*483+822del) c.*949+452_*949+460del (n.*949+452_*949+460del) c.*971+814_*971+822del (n.*971+814_*971+822del) c.1330+452_1330+460del (n.1330+452_1330+460del) c.1074-524_1074-516del (n.1074-524_1074-516del) n.1104+814_1104+822del c.*1044+452_*1044+460del (n.*1044+452_*1044+460del) n.1177+452_1177+460del c.1146+452_1146+460del (n.1146+452_1146+460del) n.1429_1437del n.2912-524_2912-516del c.*556+452_*556+460del (n.*556+452_*556+460del) c.*86+452_*86+460del (n.*86+452_*86+460del) c.1594+452_1594+460del (n.1594+452_1594+460del) c.*14-524_*14-516del (n.*14-524_*14-516del) c.*812+452_*812+460del (n.*812+452_*812+460del) c.1477+452_1477+460del (n.1477+452_1477+460del) c.413-909_413-901del (n.413-909_413-901del) c.825+814_825+822del (n.825+814_825+822del) c.1179+452_1179+460del (n.1179+452_1179+460del) c.945+814_945+822del c.*667+452_*667+460del (n.*667+452_*667+460del) n.6550+452_6550+460del n.1574+814_1574+822del n.1115+814_1115+822del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347226_72347241del | CA618766179 | HEXA | c.1073+807_1073+822del (n.1073+807_1073+822del) c.*808+445_*808+460del (n.*808+445_*808+460del) c.1189+445_1189+460del (n.1189+445_1189+460del) c.1252+445_1252+460del (n.1252+445_1252+460del) n.1466+445_1466+460del c.*483+807_*483+822del (n.*483+807_*483+822del) c.*949+445_*949+460del (n.*949+445_*949+460del) c.*971+807_*971+822del (n.*971+807_*971+822del) c.1330+445_1330+460del (n.1330+445_1330+460del) c.1074-531_1074-516del (n.1074-531_1074-516del) n.1104+807_1104+822del c.*1044+445_*1044+460del (n.*1044+445_*1044+460del) n.1177+445_1177+460del c.1146+445_1146+460del (n.1146+445_1146+460del) n.1422_1437del n.2912-531_2912-516del c.*556+445_*556+460del (n.*556+445_*556+460del) c.*86+445_*86+460del (n.*86+445_*86+460del) c.1594+445_1594+460del (n.1594+445_1594+460del) c.*14-531_*14-516del (n.*14-531_*14-516del) c.*812+445_*812+460del (n.*812+445_*812+460del) c.1477+445_1477+460del (n.1477+445_1477+460del) c.413-916_413-901del (n.413-916_413-901del) c.825+807_825+822del (n.825+807_825+822del) c.1179+445_1179+460del (n.1179+445_1179+460del) c.945+807_945+822del c.*667+445_*667+460del (n.*667+445_*667+460del) n.6550+445_6550+460del n.1574+807_1574+822del n.1115+807_1115+822del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347226_72347278del | CA971330848 | HEXA | c.1073+770_1073+822del (n.1073+770_1073+822del) c.*808+408_*808+460del (n.*808+408_*808+460del) c.1189+408_1189+460del (n.1189+408_1189+460del) c.1252+408_1252+460del (n.1252+408_1252+460del) n.1466+408_1466+460del c.*483+770_*483+822del (n.*483+770_*483+822del) c.*949+408_*949+460del (n.*949+408_*949+460del) c.*971+770_*971+822del (n.*971+770_*971+822del) c.1330+408_1330+460del (n.1330+408_1330+460del) c.1074-568_1074-516del (n.1074-568_1074-516del) n.1104+770_1104+822del c.*1044+408_*1044+460del (n.*1044+408_*1044+460del) n.1177+408_1177+460del c.1146+408_1146+460del (n.1146+408_1146+460del) n.1385_1437del n.2912-568_2912-516del c.*556+408_*556+460del (n.*556+408_*556+460del) c.*86+408_*86+460del (n.*86+408_*86+460del) c.1594+408_1594+460del (n.1594+408_1594+460del) c.*14-568_*14-516del (n.*14-568_*14-516del) c.*812+408_*812+460del (n.*812+408_*812+460del) c.1477+408_1477+460del (n.1477+408_1477+460del) c.413-953_413-901del (n.413-953_413-901del) c.825+770_825+822del (n.825+770_825+822del) c.1179+408_1179+460del (n.1179+408_1179+460del) c.945+770_945+822del c.*667+408_*667+460del (n.*667+408_*667+460del) n.6550+408_6550+460del n.1574+770_1574+822del n.1115+770_1115+822del | gnomAD v3 gnomAD v4 |
15 | g.72347227A= | CA2186744018 | HEXA | c.1073+821T= (n.1073+821T=) c.*808+459T= (n.*808+459T=) c.1189+459T= (n.1189+459T=) c.1252+459T= (n.1252+459T=) n.1466+459T= c.*483+821T= (n.*483+821T=) c.*949+459T= (n.*949+459T=) c.*971+821T= (n.*971+821T=) c.1330+459T= (n.1330+459T=) c.1074-517T= (n.1074-517T=) n.1104+821T= c.*1044+459T= (n.*1044+459T=) n.1177+459T= c.1146+459T= (n.1146+459T=) n.1436T= n.2912-517T= c.*556+459T= (n.*556+459T=) c.*86+459T= (n.*86+459T=) c.1594+459T= (n.1594+459T=) c.*14-517T= (n.*14-517T=) c.*812+459T= (n.*812+459T=) c.1477+459T= (n.1477+459T=) c.413-902T= (n.413-902T=) c.825+821T= (n.825+821T=) c.1179+459T= (n.1179+459T=) c.945+821T= c.*667+459T= (n.*667+459T=) n.6550+459T= n.1574+821T= n.1115+821T= | |
15 | g.72347227A>C | CA715464594 | HEXA | c.1073+821T>G (n.1073+821T>G) c.*808+459T>G (n.*808+459T>G) c.1189+459T>G (n.1189+459T>G) c.1252+459T>G (n.1252+459T>G) n.1466+459T>G c.*483+821T>G (n.*483+821T>G) c.*949+459T>G (n.*949+459T>G) c.*971+821T>G (n.*971+821T>G) c.1330+459T>G (n.1330+459T>G) c.1074-517T>G (n.1074-517T>G) n.1104+821T>G c.*1044+459T>G (n.*1044+459T>G) n.1177+459T>G c.1146+459T>G (n.1146+459T>G) n.1436T>G n.2912-517T>G c.*556+459T>G (n.*556+459T>G) c.*86+459T>G (n.*86+459T>G) c.1594+459T>G (n.1594+459T>G) c.*14-517T>G (n.*14-517T>G) c.*812+459T>G (n.*812+459T>G) c.1477+459T>G (n.1477+459T>G) c.413-902T>G (n.413-902T>G) c.825+821T>G (n.825+821T>G) c.1179+459T>G (n.1179+459T>G) c.945+821T>G c.*667+459T>G (n.*667+459T>G) n.6550+459T>G n.1574+821T>G n.1115+821T>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347228_72347229insAC | CA971330849 | HEXA | c.1073+819_1073+820insGT (n.1073+819_1073+820insGT) c.*808+457_*808+458insGT (n.*808+457_*808+458insGT) c.1189+457_1189+458insGT (n.1189+457_1189+458insGT) c.1252+457_1252+458insGT (n.1252+457_1252+458insGT) n.1466+457_1466+458insGT c.*483+819_*483+820insGT (n.*483+819_*483+820insGT) c.*949+457_*949+458insGT (n.*949+457_*949+458insGT) c.*971+819_*971+820insGT (n.*971+819_*971+820insGT) c.1330+457_1330+458insGT (n.1330+457_1330+458insGT) c.1074-519_1074-518insGT (n.1074-519_1074-518insGT) n.1104+819_1104+820insGT c.*1044+457_*1044+458insGT (n.*1044+457_*1044+458insGT) n.1177+457_1177+458insGT c.1146+457_1146+458insGT (n.1146+457_1146+458insGT) n.1434_1435insGT n.2912-519_2912-518insGT c.*556+457_*556+458insGT (n.*556+457_*556+458insGT) c.*86+457_*86+458insGT (n.*86+457_*86+458insGT) c.1594+457_1594+458insGT (n.1594+457_1594+458insGT) c.*14-519_*14-518insGT (n.*14-519_*14-518insGT) c.*812+457_*812+458insGT (n.*812+457_*812+458insGT) c.1477+457_1477+458insGT (n.1477+457_1477+458insGT) c.413-904_413-903insGT (n.413-904_413-903insGT) c.825+819_825+820insGT (n.825+819_825+820insGT) c.1179+457_1179+458insGT (n.1179+457_1179+458insGT) c.945+819_945+820insGT c.*667+457_*667+458insGT (n.*667+457_*667+458insGT) n.6550+457_6550+458insGT n.1574+819_1574+820insGT n.1115+819_1115+820insGT | gnomAD v3 gnomAD v4 |
15 | g.72347231A>G | CA2804700071 | HEXA | c.1073+817T>C (n.1073+817T>C) c.*808+455T>C (n.*808+455T>C) c.1189+455T>C (n.1189+455T>C) c.1252+455T>C (n.1252+455T>C) n.1466+455T>C c.*483+817T>C (n.*483+817T>C) c.*949+455T>C (n.*949+455T>C) c.*971+817T>C (n.*971+817T>C) c.1330+455T>C (n.1330+455T>C) c.1074-521T>C (n.1074-521T>C) n.1104+817T>C c.*1044+455T>C (n.*1044+455T>C) n.1177+455T>C c.1146+455T>C (n.1146+455T>C) n.1432T>C n.2912-521T>C c.*556+455T>C (n.*556+455T>C) c.*86+455T>C (n.*86+455T>C) c.1594+455T>C (n.1594+455T>C) c.*14-521T>C (n.*14-521T>C) c.*812+455T>C (n.*812+455T>C) c.1477+455T>C (n.1477+455T>C) c.413-906T>C (n.413-906T>C) c.825+817T>C (n.825+817T>C) c.1179+455T>C (n.1179+455T>C) c.945+817T>C c.*667+455T>C (n.*667+455T>C) n.6550+455T>C n.1574+817T>C n.1115+817T>C | |
15 | g.72347232A= | CA2186744019 | HEXA | c.1073+816T= (n.1073+816T=) c.*808+454T= (n.*808+454T=) c.1189+454T= (n.1189+454T=) c.1252+454T= (n.1252+454T=) n.1466+454T= c.*483+816T= (n.*483+816T=) c.*949+454T= (n.*949+454T=) c.*971+816T= (n.*971+816T=) c.1330+454T= (n.1330+454T=) c.1074-522T= (n.1074-522T=) n.1104+816T= c.*1044+454T= (n.*1044+454T=) n.1177+454T= c.1146+454T= (n.1146+454T=) n.1431T= n.2912-522T= c.*556+454T= (n.*556+454T=) c.*86+454T= (n.*86+454T=) c.1594+454T= (n.1594+454T=) c.*14-522T= (n.*14-522T=) c.*812+454T= (n.*812+454T=) c.1477+454T= (n.1477+454T=) c.413-907T= (n.413-907T=) c.825+816T= (n.825+816T=) c.1179+454T= (n.1179+454T=) c.945+816T= c.*667+454T= (n.*667+454T=) n.6550+454T= n.1574+816T= n.1115+816T= | |
15 | g.72347232A>C | CA2804700073 | HEXA | c.1073+816T>G (n.1073+816T>G) c.*808+454T>G (n.*808+454T>G) c.1189+454T>G (n.1189+454T>G) c.1252+454T>G (n.1252+454T>G) n.1466+454T>G c.*483+816T>G (n.*483+816T>G) c.*949+454T>G (n.*949+454T>G) c.*971+816T>G (n.*971+816T>G) c.1330+454T>G (n.1330+454T>G) c.1074-522T>G (n.1074-522T>G) n.1104+816T>G c.*1044+454T>G (n.*1044+454T>G) n.1177+454T>G c.1146+454T>G (n.1146+454T>G) n.1431T>G n.2912-522T>G c.*556+454T>G (n.*556+454T>G) c.*86+454T>G (n.*86+454T>G) c.1594+454T>G (n.1594+454T>G) c.*14-522T>G (n.*14-522T>G) c.*812+454T>G (n.*812+454T>G) c.1477+454T>G (n.1477+454T>G) c.413-907T>G (n.413-907T>G) c.825+816T>G (n.825+816T>G) c.1179+454T>G (n.1179+454T>G) c.945+816T>G c.*667+454T>G (n.*667+454T>G) n.6550+454T>G n.1574+816T>G n.1115+816T>G | |
15 | g.72347232A>G | CA971330850 | HEXA | c.1073+816T>C (n.1073+816T>C) c.*808+454T>C (n.*808+454T>C) c.1189+454T>C (n.1189+454T>C) c.1252+454T>C (n.1252+454T>C) n.1466+454T>C c.*483+816T>C (n.*483+816T>C) c.*949+454T>C (n.*949+454T>C) c.*971+816T>C (n.*971+816T>C) c.1330+454T>C (n.1330+454T>C) c.1074-522T>C (n.1074-522T>C) n.1104+816T>C c.*1044+454T>C (n.*1044+454T>C) n.1177+454T>C c.1146+454T>C (n.1146+454T>C) n.1431T>C n.2912-522T>C c.*556+454T>C (n.*556+454T>C) c.*86+454T>C (n.*86+454T>C) c.1594+454T>C (n.1594+454T>C) c.*14-522T>C (n.*14-522T>C) c.*812+454T>C (n.*812+454T>C) c.1477+454T>C (n.1477+454T>C) c.413-907T>C (n.413-907T>C) c.825+816T>C (n.825+816T>C) c.1179+454T>C (n.1179+454T>C) c.945+816T>C c.*667+454T>C (n.*667+454T>C) n.6550+454T>C n.1574+816T>C n.1115+816T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347233G>A | CA2186744021 | HEXA | c.1073+815C>T (n.1073+815C>T) c.*808+453C>T (n.*808+453C>T) c.1189+453C>T (n.1189+453C>T) c.1252+453C>T (n.1252+453C>T) n.1466+453C>T c.*483+815C>T (n.*483+815C>T) c.*949+453C>T (n.*949+453C>T) c.*971+815C>T (n.*971+815C>T) c.1330+453C>T (n.1330+453C>T) c.1074-523C>T (n.1074-523C>T) n.1104+815C>T c.*1044+453C>T (n.*1044+453C>T) n.1177+453C>T c.1146+453C>T (n.1146+453C>T) n.1430C>T n.2912-523C>T c.*556+453C>T (n.*556+453C>T) c.*86+453C>T (n.*86+453C>T) c.1594+453C>T (n.1594+453C>T) c.*14-523C>T (n.*14-523C>T) c.*812+453C>T (n.*812+453C>T) c.1477+453C>T (n.1477+453C>T) c.413-908C>T (n.413-908C>T) c.825+815C>T (n.825+815C>T) c.1179+453C>T (n.1179+453C>T) c.945+815C>T c.*667+453C>T (n.*667+453C>T) n.6550+453C>T n.1574+815C>T n.1115+815C>T | dbSNP |
15 | g.72347233G= | CA2186744020 | HEXA | c.1073+815C= (n.1073+815C=) c.*808+453C= (n.*808+453C=) c.1189+453C= (n.1189+453C=) c.1252+453C= (n.1252+453C=) n.1466+453C= c.*483+815C= (n.*483+815C=) c.*949+453C= (n.*949+453C=) c.*971+815C= (n.*971+815C=) c.1330+453C= (n.1330+453C=) c.1074-523C= (n.1074-523C=) n.1104+815C= c.*1044+453C= (n.*1044+453C=) n.1177+453C= c.1146+453C= (n.1146+453C=) n.1430C= n.2912-523C= c.*556+453C= (n.*556+453C=) c.*86+453C= (n.*86+453C=) c.1594+453C= (n.1594+453C=) c.*14-523C= (n.*14-523C=) c.*812+453C= (n.*812+453C=) c.1477+453C= (n.1477+453C=) c.413-908C= (n.413-908C=) c.825+815C= (n.825+815C=) c.1179+453C= (n.1179+453C=) c.945+815C= c.*667+453C= (n.*667+453C=) n.6550+453C= n.1574+815C= n.1115+815C= | |
15 | g.72347233G>T | CA971330851 | HEXA | c.1073+815C>A (n.1073+815C>A) c.*808+453C>A (n.*808+453C>A) c.1189+453C>A (n.1189+453C>A) c.1252+453C>A (n.1252+453C>A) n.1466+453C>A c.*483+815C>A (n.*483+815C>A) c.*949+453C>A (n.*949+453C>A) c.*971+815C>A (n.*971+815C>A) c.1330+453C>A (n.1330+453C>A) c.1074-523C>A (n.1074-523C>A) n.1104+815C>A c.*1044+453C>A (n.*1044+453C>A) n.1177+453C>A c.1146+453C>A (n.1146+453C>A) n.1430C>A n.2912-523C>A c.*556+453C>A (n.*556+453C>A) c.*86+453C>A (n.*86+453C>A) c.1594+453C>A (n.1594+453C>A) c.*14-523C>A (n.*14-523C>A) c.*812+453C>A (n.*812+453C>A) c.1477+453C>A (n.1477+453C>A) c.413-908C>A (n.413-908C>A) c.825+815C>A (n.825+815C>A) c.1179+453C>A (n.1179+453C>A) c.945+815C>A c.*667+453C>A (n.*667+453C>A) n.6550+453C>A n.1574+815C>A n.1115+815C>A | gnomAD v3 gnomAD v4 |
15 | g.72347234del | CA971330853 | HEXA | c.1073+814del (n.1073+814del) c.*808+452del (n.*808+452del) c.1189+452del (n.1189+452del) c.1252+452del (n.1252+452del) n.1466+452del c.*483+814del (n.*483+814del) c.*949+452del (n.*949+452del) c.*971+814del (n.*971+814del) c.1330+452del (n.1330+452del) c.1074-524del (n.1074-524del) n.1104+814del c.*1044+452del (n.*1044+452del) n.1177+452del c.1146+452del (n.1146+452del) n.1429del n.2912-524del c.*556+452del (n.*556+452del) c.*86+452del (n.*86+452del) c.1594+452del (n.1594+452del) c.*14-524del (n.*14-524del) c.*812+452del (n.*812+452del) c.1477+452del (n.1477+452del) c.413-909del (n.413-909del) c.825+814del (n.825+814del) c.1179+452del (n.1179+452del) c.945+814del c.*667+452del (n.*667+452del) n.6550+452del n.1574+814del n.1115+814del | gnomAD v3 gnomAD v4 |
15 | g.72347234A= | CA2186744022 | HEXA | c.1073+814T= (n.1073+814T=) c.*808+452T= (n.*808+452T=) c.1189+452T= (n.1189+452T=) c.1252+452T= (n.1252+452T=) n.1466+452T= c.*483+814T= (n.*483+814T=) c.*949+452T= (n.*949+452T=) c.*971+814T= (n.*971+814T=) c.1330+452T= (n.1330+452T=) c.1074-524T= (n.1074-524T=) n.1104+814T= c.*1044+452T= (n.*1044+452T=) n.1177+452T= c.1146+452T= (n.1146+452T=) n.1429T= n.2912-524T= c.*556+452T= (n.*556+452T=) c.*86+452T= (n.*86+452T=) c.1594+452T= (n.1594+452T=) c.*14-524T= (n.*14-524T=) c.*812+452T= (n.*812+452T=) c.1477+452T= (n.1477+452T=) c.413-909T= (n.413-909T=) c.825+814T= (n.825+814T=) c.1179+452T= (n.1179+452T=) c.945+814T= c.*667+452T= (n.*667+452T=) n.6550+452T= n.1574+814T= n.1115+814T= | |
15 | g.72347234A>C | CA971330852 | HEXA | c.1073+814T>G (n.1073+814T>G) c.*808+452T>G (n.*808+452T>G) c.1189+452T>G (n.1189+452T>G) c.1252+452T>G (n.1252+452T>G) n.1466+452T>G c.*483+814T>G (n.*483+814T>G) c.*949+452T>G (n.*949+452T>G) c.*971+814T>G (n.*971+814T>G) c.1330+452T>G (n.1330+452T>G) c.1074-524T>G (n.1074-524T>G) n.1104+814T>G c.*1044+452T>G (n.*1044+452T>G) n.1177+452T>G c.1146+452T>G (n.1146+452T>G) n.1429T>G n.2912-524T>G c.*556+452T>G (n.*556+452T>G) c.*86+452T>G (n.*86+452T>G) c.1594+452T>G (n.1594+452T>G) c.*14-524T>G (n.*14-524T>G) c.*812+452T>G (n.*812+452T>G) c.1477+452T>G (n.1477+452T>G) c.413-909T>G (n.413-909T>G) c.825+814T>G (n.825+814T>G) c.1179+452T>G (n.1179+452T>G) c.945+814T>G c.*667+452T>G (n.*667+452T>G) n.6550+452T>G n.1574+814T>G n.1115+814T>G | gnomAD v3 gnomAD v4 |
15 | g.72347234A>G | CA971330854 | HEXA | c.1073+814T>C (n.1073+814T>C) c.*808+452T>C (n.*808+452T>C) c.1189+452T>C (n.1189+452T>C) c.1252+452T>C (n.1252+452T>C) n.1466+452T>C c.*483+814T>C (n.*483+814T>C) c.*949+452T>C (n.*949+452T>C) c.*971+814T>C (n.*971+814T>C) c.1330+452T>C (n.1330+452T>C) c.1074-524T>C (n.1074-524T>C) n.1104+814T>C c.*1044+452T>C (n.*1044+452T>C) n.1177+452T>C c.1146+452T>C (n.1146+452T>C) n.1429T>C n.2912-524T>C c.*556+452T>C (n.*556+452T>C) c.*86+452T>C (n.*86+452T>C) c.1594+452T>C (n.1594+452T>C) c.*14-524T>C (n.*14-524T>C) c.*812+452T>C (n.*812+452T>C) c.1477+452T>C (n.1477+452T>C) c.413-909T>C (n.413-909T>C) c.825+814T>C (n.825+814T>C) c.1179+452T>C (n.1179+452T>C) c.945+814T>C c.*667+452T>C (n.*667+452T>C) n.6550+452T>C n.1574+814T>C n.1115+814T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347234A>T | CA2186744023 | HEXA | c.1073+814T>A (n.1073+814T>A) c.*808+452T>A (n.*808+452T>A) c.1189+452T>A (n.1189+452T>A) c.1252+452T>A (n.1252+452T>A) n.1466+452T>A c.*483+814T>A (n.*483+814T>A) c.*949+452T>A (n.*949+452T>A) c.*971+814T>A (n.*971+814T>A) c.1330+452T>A (n.1330+452T>A) c.1074-524T>A (n.1074-524T>A) n.1104+814T>A c.*1044+452T>A (n.*1044+452T>A) n.1177+452T>A c.1146+452T>A (n.1146+452T>A) n.1429T>A n.2912-524T>A c.*556+452T>A (n.*556+452T>A) c.*86+452T>A (n.*86+452T>A) c.1594+452T>A (n.1594+452T>A) c.*14-524T>A (n.*14-524T>A) c.*812+452T>A (n.*812+452T>A) c.1477+452T>A (n.1477+452T>A) c.413-909T>A (n.413-909T>A) c.825+814T>A (n.825+814T>A) c.1179+452T>A (n.1179+452T>A) c.945+814T>A c.*667+452T>A (n.*667+452T>A) n.6550+452T>A n.1574+814T>A n.1115+814T>A | dbSNP |
15 | g.72347235T>A | CA2186744025 | HEXA | c.1073+813A>T (n.1073+813A>T) c.*808+451A>T (n.*808+451A>T) c.1189+451A>T (n.1189+451A>T) c.1252+451A>T (n.1252+451A>T) n.1466+451A>T c.*483+813A>T (n.*483+813A>T) c.*949+451A>T (n.*949+451A>T) c.*971+813A>T (n.*971+813A>T) c.1330+451A>T (n.1330+451A>T) c.1074-525A>T (n.1074-525A>T) n.1104+813A>T c.*1044+451A>T (n.*1044+451A>T) n.1177+451A>T c.1146+451A>T (n.1146+451A>T) n.1428A>T n.2912-525A>T c.*556+451A>T (n.*556+451A>T) c.*86+451A>T (n.*86+451A>T) c.1594+451A>T (n.1594+451A>T) c.*14-525A>T (n.*14-525A>T) c.*812+451A>T (n.*812+451A>T) c.1477+451A>T (n.1477+451A>T) c.413-910A>T (n.413-910A>T) c.825+813A>T (n.825+813A>T) c.1179+451A>T (n.1179+451A>T) c.945+813A>T c.*667+451A>T (n.*667+451A>T) n.6550+451A>T n.1574+813A>T n.1115+813A>T | dbSNP |
15 | g.72347235T>C | CA971330855 | HEXA | c.1073+813A>G (n.1073+813A>G) c.*808+451A>G (n.*808+451A>G) c.1189+451A>G (n.1189+451A>G) c.1252+451A>G (n.1252+451A>G) n.1466+451A>G c.*483+813A>G (n.*483+813A>G) c.*949+451A>G (n.*949+451A>G) c.*971+813A>G (n.*971+813A>G) c.1330+451A>G (n.1330+451A>G) c.1074-525A>G (n.1074-525A>G) n.1104+813A>G c.*1044+451A>G (n.*1044+451A>G) n.1177+451A>G c.1146+451A>G (n.1146+451A>G) n.1428A>G n.2912-525A>G c.*556+451A>G (n.*556+451A>G) c.*86+451A>G (n.*86+451A>G) c.1594+451A>G (n.1594+451A>G) c.*14-525A>G (n.*14-525A>G) c.*812+451A>G (n.*812+451A>G) c.1477+451A>G (n.1477+451A>G) c.413-910A>G (n.413-910A>G) c.825+813A>G (n.825+813A>G) c.1179+451A>G (n.1179+451A>G) c.945+813A>G c.*667+451A>G (n.*667+451A>G) n.6550+451A>G n.1574+813A>G n.1115+813A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347235T= | CA2186744026 | HEXA | c.1073+813A= (n.1073+813A=) c.*808+451A= (n.*808+451A=) c.1189+451A= (n.1189+451A=) c.1252+451A= (n.1252+451A=) n.1466+451A= c.*483+813A= (n.*483+813A=) c.*949+451A= (n.*949+451A=) c.*971+813A= (n.*971+813A=) c.1330+451A= (n.1330+451A=) c.1074-525A= (n.1074-525A=) n.1104+813A= c.*1044+451A= (n.*1044+451A=) n.1177+451A= c.1146+451A= (n.1146+451A=) n.1428A= n.2912-525A= c.*556+451A= (n.*556+451A=) c.*86+451A= (n.*86+451A=) c.1594+451A= (n.1594+451A=) c.*14-525A= (n.*14-525A=) c.*812+451A= (n.*812+451A=) c.1477+451A= (n.1477+451A=) c.413-910A= (n.413-910A=) c.825+813A= (n.825+813A=) c.1179+451A= (n.1179+451A=) c.945+813A= c.*667+451A= (n.*667+451A=) n.6550+451A= n.1574+813A= n.1115+813A= | |
15 | g.72347235_72347241delinsTAGAAAC | CA2186744024 | HEXA | c.1073+807_1073+813delinsGTTTCTA (n.1073+807_1073+813delinsGTTTCTA) c.*808+445_*808+451delinsGTTTCTA (n.*808+445_*808+451delinsGTTTCTA) c.1189+445_1189+451delinsGTTTCTA (n.1189+445_1189+451delinsGTTTCTA) c.1252+445_1252+451delinsGTTTCTA (n.1252+445_1252+451delinsGTTTCTA) n.1466+445_1466+451delinsGTTTCTA c.*483+807_*483+813delinsGTTTCTA (n.*483+807_*483+813delinsGTTTCTA) c.*949+445_*949+451delinsGTTTCTA (n.*949+445_*949+451delinsGTTTCTA) c.*971+807_*971+813delinsGTTTCTA (n.*971+807_*971+813delinsGTTTCTA) c.1330+445_1330+451delinsGTTTCTA (n.1330+445_1330+451delinsGTTTCTA) c.1074-531_1074-525delinsGTTTCTA (n.1074-531_1074-525delinsGTTTCTA) n.1104+807_1104+813delinsGTTTCTA c.*1044+445_*1044+451delinsGTTTCTA (n.*1044+445_*1044+451delinsGTTTCTA) n.1177+445_1177+451delinsGTTTCTA c.1146+445_1146+451delinsGTTTCTA (n.1146+445_1146+451delinsGTTTCTA) n.1422_1428delinsGTTTCTA n.2912-531_2912-525delinsGTTTCTA c.*556+445_*556+451delinsGTTTCTA (n.*556+445_*556+451delinsGTTTCTA) c.*86+445_*86+451delinsGTTTCTA (n.*86+445_*86+451delinsGTTTCTA) c.1594+445_1594+451delinsGTTTCTA (n.1594+445_1594+451delinsGTTTCTA) c.*14-531_*14-525delinsGTTTCTA (n.*14-531_*14-525delinsGTTTCTA) c.*812+445_*812+451delinsGTTTCTA (n.*812+445_*812+451delinsGTTTCTA) c.1477+445_1477+451delinsGTTTCTA (n.1477+445_1477+451delinsGTTTCTA) c.413-916_413-910delinsGTTTCTA (n.413-916_413-910delinsGTTTCTA) c.825+807_825+813delinsGTTTCTA (n.825+807_825+813delinsGTTTCTA) c.1179+445_1179+451delinsGTTTCTA (n.1179+445_1179+451delinsGTTTCTA) c.945+807_945+813delinsGTTTCTA c.*667+445_*667+451delinsGTTTCTA (n.*667+445_*667+451delinsGTTTCTA) n.6550+445_6550+451delinsGTTTCTA n.1574+807_1574+813delinsGTTTCTA n.1115+807_1115+813delinsGTTTCTA | |
15 | g.72347236A= | CA2186744028 | HEXA | c.1073+812T= (n.1073+812T=) c.*808+450T= (n.*808+450T=) c.1189+450T= (n.1189+450T=) c.1252+450T= (n.1252+450T=) n.1466+450T= c.*483+812T= (n.*483+812T=) c.*949+450T= (n.*949+450T=) c.*971+812T= (n.*971+812T=) c.1330+450T= (n.1330+450T=) c.1074-526T= (n.1074-526T=) n.1104+812T= c.*1044+450T= (n.*1044+450T=) n.1177+450T= c.1146+450T= (n.1146+450T=) n.1427T= n.2912-526T= c.*556+450T= (n.*556+450T=) c.*86+450T= (n.*86+450T=) c.1594+450T= (n.1594+450T=) c.*14-526T= (n.*14-526T=) c.*812+450T= (n.*812+450T=) c.1477+450T= (n.1477+450T=) c.413-911T= (n.413-911T=) c.825+812T= (n.825+812T=) c.1179+450T= (n.1179+450T=) c.945+812T= c.*667+450T= (n.*667+450T=) n.6550+450T= n.1574+812T= n.1115+812T= | |
15 | g.72347236A>C | CA971330856 | HEXA | c.1073+812T>G (n.1073+812T>G) c.*808+450T>G (n.*808+450T>G) c.1189+450T>G (n.1189+450T>G) c.1252+450T>G (n.1252+450T>G) n.1466+450T>G c.*483+812T>G (n.*483+812T>G) c.*949+450T>G (n.*949+450T>G) c.*971+812T>G (n.*971+812T>G) c.1330+450T>G (n.1330+450T>G) c.1074-526T>G (n.1074-526T>G) n.1104+812T>G c.*1044+450T>G (n.*1044+450T>G) n.1177+450T>G c.1146+450T>G (n.1146+450T>G) n.1427T>G n.2912-526T>G c.*556+450T>G (n.*556+450T>G) c.*86+450T>G (n.*86+450T>G) c.1594+450T>G (n.1594+450T>G) c.*14-526T>G (n.*14-526T>G) c.*812+450T>G (n.*812+450T>G) c.1477+450T>G (n.1477+450T>G) c.413-911T>G (n.413-911T>G) c.825+812T>G (n.825+812T>G) c.1179+450T>G (n.1179+450T>G) c.945+812T>G c.*667+450T>G (n.*667+450T>G) n.6550+450T>G n.1574+812T>G n.1115+812T>G | gnomAD v3 gnomAD v4 |
15 | g.72347236A>G | CA2186744027 | HEXA | c.1073+812T>C (n.1073+812T>C) c.*808+450T>C (n.*808+450T>C) c.1189+450T>C (n.1189+450T>C) c.1252+450T>C (n.1252+450T>C) n.1466+450T>C c.*483+812T>C (n.*483+812T>C) c.*949+450T>C (n.*949+450T>C) c.*971+812T>C (n.*971+812T>C) c.1330+450T>C (n.1330+450T>C) c.1074-526T>C (n.1074-526T>C) n.1104+812T>C c.*1044+450T>C (n.*1044+450T>C) n.1177+450T>C c.1146+450T>C (n.1146+450T>C) n.1427T>C n.2912-526T>C c.*556+450T>C (n.*556+450T>C) c.*86+450T>C (n.*86+450T>C) c.1594+450T>C (n.1594+450T>C) c.*14-526T>C (n.*14-526T>C) c.*812+450T>C (n.*812+450T>C) c.1477+450T>C (n.1477+450T>C) c.413-911T>C (n.413-911T>C) c.825+812T>C (n.825+812T>C) c.1179+450T>C (n.1179+450T>C) c.945+812T>C c.*667+450T>C (n.*667+450T>C) n.6550+450T>C n.1574+812T>C n.1115+812T>C | dbSNP |
15 | g.72347236_72347241del | CA618766181 | HEXA | c.1073+807_1073+812del (n.1073+807_1073+812del) c.*808+445_*808+450del (n.*808+445_*808+450del) c.1189+445_1189+450del (n.1189+445_1189+450del) c.1252+445_1252+450del (n.1252+445_1252+450del) n.1466+445_1466+450del c.*483+807_*483+812del (n.*483+807_*483+812del) c.*949+445_*949+450del (n.*949+445_*949+450del) c.*971+807_*971+812del (n.*971+807_*971+812del) c.1330+445_1330+450del (n.1330+445_1330+450del) c.1074-531_1074-526del (n.1074-531_1074-526del) n.1104+807_1104+812del c.*1044+445_*1044+450del (n.*1044+445_*1044+450del) n.1177+445_1177+450del c.1146+445_1146+450del (n.1146+445_1146+450del) n.1422_1427del n.2912-531_2912-526del c.*556+445_*556+450del (n.*556+445_*556+450del) c.*86+445_*86+450del (n.*86+445_*86+450del) c.1594+445_1594+450del (n.1594+445_1594+450del) c.*14-531_*14-526del (n.*14-531_*14-526del) c.*812+445_*812+450del (n.*812+445_*812+450del) c.1477+445_1477+450del (n.1477+445_1477+450del) c.413-916_413-911del (n.413-916_413-911del) c.825+807_825+812del (n.825+807_825+812del) c.1179+445_1179+450del (n.1179+445_1179+450del) c.945+807_945+812del c.*667+445_*667+450del (n.*667+445_*667+450del) n.6550+445_6550+450del n.1574+807_1574+812del n.1115+807_1115+812del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347237G>A | CA2186744030 | HEXA | c.1073+811C>T (n.1073+811C>T) c.*808+449C>T (n.*808+449C>T) c.1189+449C>T (n.1189+449C>T) c.1252+449C>T (n.1252+449C>T) n.1466+449C>T c.*483+811C>T (n.*483+811C>T) c.*949+449C>T (n.*949+449C>T) c.*971+811C>T (n.*971+811C>T) c.1330+449C>T (n.1330+449C>T) c.1074-527C>T (n.1074-527C>T) n.1104+811C>T c.*1044+449C>T (n.*1044+449C>T) n.1177+449C>T c.1146+449C>T (n.1146+449C>T) n.1426C>T n.2912-527C>T c.*556+449C>T (n.*556+449C>T) c.*86+449C>T (n.*86+449C>T) c.1594+449C>T (n.1594+449C>T) c.*14-527C>T (n.*14-527C>T) c.*812+449C>T (n.*812+449C>T) c.1477+449C>T (n.1477+449C>T) c.413-912C>T (n.413-912C>T) c.825+811C>T (n.825+811C>T) c.1179+449C>T (n.1179+449C>T) c.945+811C>T c.*667+449C>T (n.*667+449C>T) n.6550+449C>T n.1574+811C>T n.1115+811C>T | dbSNP |
15 | g.72347237G= | CA2186744029 | HEXA | c.1073+811C= (n.1073+811C=) c.*808+449C= (n.*808+449C=) c.1189+449C= (n.1189+449C=) c.1252+449C= (n.1252+449C=) n.1466+449C= c.*483+811C= (n.*483+811C=) c.*949+449C= (n.*949+449C=) c.*971+811C= (n.*971+811C=) c.1330+449C= (n.1330+449C=) c.1074-527C= (n.1074-527C=) n.1104+811C= c.*1044+449C= (n.*1044+449C=) n.1177+449C= c.1146+449C= (n.1146+449C=) n.1426C= n.2912-527C= c.*556+449C= (n.*556+449C=) c.*86+449C= (n.*86+449C=) c.1594+449C= (n.1594+449C=) c.*14-527C= (n.*14-527C=) c.*812+449C= (n.*812+449C=) c.1477+449C= (n.1477+449C=) c.413-912C= (n.413-912C=) c.825+811C= (n.825+811C=) c.1179+449C= (n.1179+449C=) c.945+811C= c.*667+449C= (n.*667+449C=) n.6550+449C= n.1574+811C= n.1115+811C= | |
15 | g.72347238_72347240del | CA971330857 | HEXA | c.1073+808_1073+810del (n.1073+808_1073+810del) c.*808+446_*808+448del (n.*808+446_*808+448del) c.1189+446_1189+448del (n.1189+446_1189+448del) c.1252+446_1252+448del (n.1252+446_1252+448del) n.1466+446_1466+448del c.*483+808_*483+810del (n.*483+808_*483+810del) c.*949+446_*949+448del (n.*949+446_*949+448del) c.*971+808_*971+810del (n.*971+808_*971+810del) c.1330+446_1330+448del (n.1330+446_1330+448del) c.1074-530_1074-528del (n.1074-530_1074-528del) n.1104+808_1104+810del c.*1044+446_*1044+448del (n.*1044+446_*1044+448del) n.1177+446_1177+448del c.1146+446_1146+448del (n.1146+446_1146+448del) n.1423_1425del n.2912-530_2912-528del c.*556+446_*556+448del (n.*556+446_*556+448del) c.*86+446_*86+448del (n.*86+446_*86+448del) c.1594+446_1594+448del (n.1594+446_1594+448del) c.*14-530_*14-528del (n.*14-530_*14-528del) c.*812+446_*812+448del (n.*812+446_*812+448del) c.1477+446_1477+448del (n.1477+446_1477+448del) c.413-915_413-913del (n.413-915_413-913del) c.825+808_825+810del (n.825+808_825+810del) c.1179+446_1179+448del (n.1179+446_1179+448del) c.945+808_945+810del c.*667+446_*667+448del (n.*667+446_*667+448del) n.6550+446_6550+448del n.1574+808_1574+810del n.1115+808_1115+810del | gnomAD v3 gnomAD v4 |
15 | g.72347239A= | CA2186744031 | HEXA | c.1073+809T= (n.1073+809T=) c.*808+447T= (n.*808+447T=) c.1189+447T= (n.1189+447T=) c.1252+447T= (n.1252+447T=) n.1466+447T= c.*483+809T= (n.*483+809T=) c.*949+447T= (n.*949+447T=) c.*971+809T= (n.*971+809T=) c.1330+447T= (n.1330+447T=) c.1074-529T= (n.1074-529T=) n.1104+809T= c.*1044+447T= (n.*1044+447T=) n.1177+447T= c.1146+447T= (n.1146+447T=) n.1424T= n.2912-529T= c.*556+447T= (n.*556+447T=) c.*86+447T= (n.*86+447T=) c.1594+447T= (n.1594+447T=) c.*14-529T= (n.*14-529T=) c.*812+447T= (n.*812+447T=) c.1477+447T= (n.1477+447T=) c.413-914T= (n.413-914T=) c.825+809T= (n.825+809T=) c.1179+447T= (n.1179+447T=) c.945+809T= c.*667+447T= (n.*667+447T=) n.6550+447T= n.1574+809T= n.1115+809T= | |
15 | g.72347239A>C | CA2186744032 | HEXA | c.1073+809T>G (n.1073+809T>G) c.*808+447T>G (n.*808+447T>G) c.1189+447T>G (n.1189+447T>G) c.1252+447T>G (n.1252+447T>G) n.1466+447T>G c.*483+809T>G (n.*483+809T>G) c.*949+447T>G (n.*949+447T>G) c.*971+809T>G (n.*971+809T>G) c.1330+447T>G (n.1330+447T>G) c.1074-529T>G (n.1074-529T>G) n.1104+809T>G c.*1044+447T>G (n.*1044+447T>G) n.1177+447T>G c.1146+447T>G (n.1146+447T>G) n.1424T>G n.2912-529T>G c.*556+447T>G (n.*556+447T>G) c.*86+447T>G (n.*86+447T>G) c.1594+447T>G (n.1594+447T>G) c.*14-529T>G (n.*14-529T>G) c.*812+447T>G (n.*812+447T>G) c.1477+447T>G (n.1477+447T>G) c.413-914T>G (n.413-914T>G) c.825+809T>G (n.825+809T>G) c.1179+447T>G (n.1179+447T>G) c.945+809T>G c.*667+447T>G (n.*667+447T>G) n.6550+447T>G n.1574+809T>G n.1115+809T>G | dbSNP |
15 | g.72347243C= | CA2186744033 | HEXA | c.1073+805G= (n.1073+805G=) c.*808+443G= (n.*808+443G=) c.1189+443G= (n.1189+443G=) c.1252+443G= (n.1252+443G=) n.1466+443G= c.*483+805G= (n.*483+805G=) c.*949+443G= (n.*949+443G=) c.*971+805G= (n.*971+805G=) c.1330+443G= (n.1330+443G=) c.1074-533G= (n.1074-533G=) n.1104+805G= c.*1044+443G= (n.*1044+443G=) n.1177+443G= c.1146+443G= (n.1146+443G=) n.1420G= n.2912-533G= c.*556+443G= (n.*556+443G=) c.*86+443G= (n.*86+443G=) c.1594+443G= (n.1594+443G=) c.*14-533G= (n.*14-533G=) c.*812+443G= (n.*812+443G=) c.1477+443G= (n.1477+443G=) c.413-918G= (n.413-918G=) c.825+805G= (n.825+805G=) c.1179+443G= (n.1179+443G=) c.945+805G= c.*667+443G= (n.*667+443G=) n.6550+443G= n.1574+805G= n.1115+805G= | |
15 | g.72347243C>T | CA618766182 | HEXA | c.1073+805G>A (n.1073+805G>A) c.*808+443G>A (n.*808+443G>A) c.1189+443G>A (n.1189+443G>A) c.1252+443G>A (n.1252+443G>A) n.1466+443G>A c.*483+805G>A (n.*483+805G>A) c.*949+443G>A (n.*949+443G>A) c.*971+805G>A (n.*971+805G>A) c.1330+443G>A (n.1330+443G>A) c.1074-533G>A (n.1074-533G>A) n.1104+805G>A c.*1044+443G>A (n.*1044+443G>A) n.1177+443G>A c.1146+443G>A (n.1146+443G>A) n.1420G>A n.2912-533G>A c.*556+443G>A (n.*556+443G>A) c.*86+443G>A (n.*86+443G>A) c.1594+443G>A (n.1594+443G>A) c.*14-533G>A (n.*14-533G>A) c.*812+443G>A (n.*812+443G>A) c.1477+443G>A (n.1477+443G>A) c.413-918G>A (n.413-918G>A) c.825+805G>A (n.825+805G>A) c.1179+443G>A (n.1179+443G>A) c.945+805G>A c.*667+443G>A (n.*667+443G>A) n.6550+443G>A n.1574+805G>A n.1115+805G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347244_72347250delinsTGACACA | CA2186744035 | HEXA | c.1073+798_1073+804delinsTGTGTCA (n.1073+798_1073+804delinsTGTGTCA) c.*808+436_*808+442delinsTGTGTCA (n.*808+436_*808+442delinsTGTGTCA) c.1189+436_1189+442delinsTGTGTCA (n.1189+436_1189+442delinsTGTGTCA) c.1252+436_1252+442delinsTGTGTCA (n.1252+436_1252+442delinsTGTGTCA) n.1466+436_1466+442delinsTGTGTCA c.*483+798_*483+804delinsTGTGTCA (n.*483+798_*483+804delinsTGTGTCA) c.*949+436_*949+442delinsTGTGTCA (n.*949+436_*949+442delinsTGTGTCA) c.*971+798_*971+804delinsTGTGTCA (n.*971+798_*971+804delinsTGTGTCA) c.1330+436_1330+442delinsTGTGTCA (n.1330+436_1330+442delinsTGTGTCA) c.1074-540_1074-534delinsTGTGTCA (n.1074-540_1074-534delinsTGTGTCA) n.1104+798_1104+804delinsTGTGTCA c.*1044+436_*1044+442delinsTGTGTCA (n.*1044+436_*1044+442delinsTGTGTCA) n.1177+436_1177+442delinsTGTGTCA c.1146+436_1146+442delinsTGTGTCA (n.1146+436_1146+442delinsTGTGTCA) n.1413_1419delinsTGTGTCA n.2912-540_2912-534delinsTGTGTCA c.*556+436_*556+442delinsTGTGTCA (n.*556+436_*556+442delinsTGTGTCA) c.*86+436_*86+442delinsTGTGTCA (n.*86+436_*86+442delinsTGTGTCA) c.1594+436_1594+442delinsTGTGTCA (n.1594+436_1594+442delinsTGTGTCA) c.*14-540_*14-534delinsTGTGTCA (n.*14-540_*14-534delinsTGTGTCA) c.*812+436_*812+442delinsTGTGTCA (n.*812+436_*812+442delinsTGTGTCA) c.1477+436_1477+442delinsTGTGTCA (n.1477+436_1477+442delinsTGTGTCA) c.413-925_413-919delinsTGTGTCA (n.413-925_413-919delinsTGTGTCA) c.825+798_825+804delinsTGTGTCA (n.825+798_825+804delinsTGTGTCA) c.1179+436_1179+442delinsTGTGTCA (n.1179+436_1179+442delinsTGTGTCA) c.945+798_945+804delinsTGTGTCA c.*667+436_*667+442delinsTGTGTCA (n.*667+436_*667+442delinsTGTGTCA) n.6550+436_6550+442delinsTGTGTCA n.1574+798_1574+804delinsTGTGTCA n.1115+798_1115+804delinsTGTGTCA | |
15 | g.72347244_72347262delinsTGACACATAAACCCAGGGC | CA2186744036 | HEXA | c.1073+786_1073+804delinsGCCCTGGGTTTATGTGTCA (n.1073+786_1073+804delinsGCCCTGGGTTTATGTGTCA) c.*808+424_*808+442delinsGCCCTGGGTTTATGTGTCA (n.*808+424_*808+442delinsGCCCTGGGTTTATGTGTCA) c.1189+424_1189+442delinsGCCCTGGGTTTATGTGTCA (n.1189+424_1189+442delinsGCCCTGGGTTTATGTGTCA) c.1252+424_1252+442delinsGCCCTGGGTTTATGTGTCA (n.1252+424_1252+442delinsGCCCTGGGTTTATGTGTCA) n.1466+424_1466+442delinsGCCCTGGGTTTATGTGTCA c.*483+786_*483+804delinsGCCCTGGGTTTATGTGTCA (n.*483+786_*483+804delinsGCCCTGGGTTTATGTGTCA) c.*949+424_*949+442delinsGCCCTGGGTTTATGTGTCA (n.*949+424_*949+442delinsGCCCTGGGTTTATGTGTCA) c.*971+786_*971+804delinsGCCCTGGGTTTATGTGTCA (n.*971+786_*971+804delinsGCCCTGGGTTTATGTGTCA) c.1330+424_1330+442delinsGCCCTGGGTTTATGTGTCA (n.1330+424_1330+442delinsGCCCTGGGTTTATGTGTCA) c.1074-552_1074-534delinsGCCCTGGGTTTATGTGTCA (n.1074-552_1074-534delinsGCCCTGGGTTTATGTGTCA) n.1104+786_1104+804delinsGCCCTGGGTTTATGTGTCA c.*1044+424_*1044+442delinsGCCCTGGGTTTATGTGTCA (n.*1044+424_*1044+442delinsGCCCTGGGTTTATGTGTCA) n.1177+424_1177+442delinsGCCCTGGGTTTATGTGTCA c.1146+424_1146+442delinsGCCCTGGGTTTATGTGTCA (n.1146+424_1146+442delinsGCCCTGGGTTTATGTGTCA) n.1401_1419delinsGCCCTGGGTTTATGTGTCA n.2912-552_2912-534delinsGCCCTGGGTTTATGTGTCA c.*556+424_*556+442delinsGCCCTGGGTTTATGTGTCA (n.*556+424_*556+442delinsGCCCTGGGTTTATGTGTCA) c.*86+424_*86+442delinsGCCCTGGGTTTATGTGTCA (n.*86+424_*86+442delinsGCCCTGGGTTTATGTGTCA) c.1594+424_1594+442delinsGCCCTGGGTTTATGTGTCA (n.1594+424_1594+442delinsGCCCTGGGTTTATGTGTCA) c.*14-552_*14-534delinsGCCCTGGGTTTATGTGTCA (n.*14-552_*14-534delinsGCCCTGGGTTTATGTGTCA) c.*812+424_*812+442delinsGCCCTGGGTTTATGTGTCA (n.*812+424_*812+442delinsGCCCTGGGTTTATGTGTCA) c.1477+424_1477+442delinsGCCCTGGGTTTATGTGTCA (n.1477+424_1477+442delinsGCCCTGGGTTTATGTGTCA) c.413-937_413-919delinsGCCCTGGGTTTATGTGTCA (n.413-937_413-919delinsGCCCTGGGTTTATGTGTCA) c.825+786_825+804delinsGCCCTGGGTTTATGTGTCA (n.825+786_825+804delinsGCCCTGGGTTTATGTGTCA) c.1179+424_1179+442delinsGCCCTGGGTTTATGTGTCA (n.1179+424_1179+442delinsGCCCTGGGTTTATGTGTCA) c.945+786_945+804delinsGCCCTGGGTTTATGTGTCA c.*667+424_*667+442delinsGCCCTGGGTTTATGTGTCA (n.*667+424_*667+442delinsGCCCTGGGTTTATGTGTCA) n.6550+424_6550+442delinsGCCCTGGGTTTATGTGTCA n.1574+786_1574+804delinsGCCCTGGGTTTATGTGTCA n.1115+786_1115+804delinsGCCCTGGGTTTATGTGTCA | |
15 | g.72347244_72347278delinsTGACACATAAACCCAGGGCTCATACCACAGCGGCC | CA2186744034 | HEXA | c.1073+770_1073+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1073+770_1073+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.*808+408_*808+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*808+408_*808+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.1189+408_1189+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1189+408_1189+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.1252+408_1252+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1252+408_1252+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) n.1466+408_1466+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA c.*483+770_*483+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*483+770_*483+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.*949+408_*949+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*949+408_*949+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.*971+770_*971+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*971+770_*971+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.1330+408_1330+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1330+408_1330+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.1074-568_1074-534delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1074-568_1074-534delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) n.1104+770_1104+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA c.*1044+408_*1044+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*1044+408_*1044+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) n.1177+408_1177+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA c.1146+408_1146+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1146+408_1146+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) n.1385_1419delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA n.2912-568_2912-534delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA c.*556+408_*556+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*556+408_*556+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.*86+408_*86+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*86+408_*86+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.1594+408_1594+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1594+408_1594+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.*14-568_*14-534delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*14-568_*14-534delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.*812+408_*812+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*812+408_*812+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.1477+408_1477+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1477+408_1477+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.413-953_413-919delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.413-953_413-919delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.825+770_825+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.825+770_825+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.1179+408_1179+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.1179+408_1179+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) c.945+770_945+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA c.*667+408_*667+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA (n.*667+408_*667+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA) n.6550+408_6550+442delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA n.1574+770_1574+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA n.1115+770_1115+804delinsGGCCGCTGTGGTATGAGCCCTGGGTTTATGTGTCA | |
15 | g.72347245_72347250del | CA618766184 | HEXA | c.1073+798_1073+803del (n.1073+798_1073+803del) c.*808+436_*808+441del (n.*808+436_*808+441del) c.1189+436_1189+441del (n.1189+436_1189+441del) c.1252+436_1252+441del (n.1252+436_1252+441del) n.1466+436_1466+441del c.*483+798_*483+803del (n.*483+798_*483+803del) c.*949+436_*949+441del (n.*949+436_*949+441del) c.*971+798_*971+803del (n.*971+798_*971+803del) c.1330+436_1330+441del (n.1330+436_1330+441del) c.1074-540_1074-535del (n.1074-540_1074-535del) n.1104+798_1104+803del c.*1044+436_*1044+441del (n.*1044+436_*1044+441del) n.1177+436_1177+441del c.1146+436_1146+441del (n.1146+436_1146+441del) n.1413_1418del n.2912-540_2912-535del c.*556+436_*556+441del (n.*556+436_*556+441del) c.*86+436_*86+441del (n.*86+436_*86+441del) c.1594+436_1594+441del (n.1594+436_1594+441del) c.*14-540_*14-535del (n.*14-540_*14-535del) c.*812+436_*812+441del (n.*812+436_*812+441del) c.1477+436_1477+441del (n.1477+436_1477+441del) c.413-925_413-920del (n.413-925_413-920del) c.825+798_825+803del (n.825+798_825+803del) c.1179+436_1179+441del (n.1179+436_1179+441del) c.945+798_945+803del c.*667+436_*667+441del (n.*667+436_*667+441del) n.6550+436_6550+441del n.1574+798_1574+803del n.1115+798_1115+803del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347245_72347262del | CA971330858 | HEXA | c.1073+786_1073+803del (n.1073+786_1073+803del) c.*808+424_*808+441del (n.*808+424_*808+441del) c.1189+424_1189+441del (n.1189+424_1189+441del) c.1252+424_1252+441del (n.1252+424_1252+441del) n.1466+424_1466+441del c.*483+786_*483+803del (n.*483+786_*483+803del) c.*949+424_*949+441del (n.*949+424_*949+441del) c.*971+786_*971+803del (n.*971+786_*971+803del) c.1330+424_1330+441del (n.1330+424_1330+441del) c.1074-552_1074-535del (n.1074-552_1074-535del) n.1104+786_1104+803del c.*1044+424_*1044+441del (n.*1044+424_*1044+441del) n.1177+424_1177+441del c.1146+424_1146+441del (n.1146+424_1146+441del) n.1401_1418del n.2912-552_2912-535del c.*556+424_*556+441del (n.*556+424_*556+441del) c.*86+424_*86+441del (n.*86+424_*86+441del) c.1594+424_1594+441del (n.1594+424_1594+441del) c.*14-552_*14-535del (n.*14-552_*14-535del) c.*812+424_*812+441del (n.*812+424_*812+441del) c.1477+424_1477+441del (n.1477+424_1477+441del) c.413-937_413-920del (n.413-937_413-920del) c.825+786_825+803del (n.825+786_825+803del) c.1179+424_1179+441del (n.1179+424_1179+441del) c.945+786_945+803del c.*667+424_*667+441del (n.*667+424_*667+441del) n.6550+424_6550+441del n.1574+786_1574+803del n.1115+786_1115+803del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347245_72347277del | CA2569633315 | HEXA | c.1073+771_1073+803del (n.1073+771_1073+803del) c.*808+409_*808+441del (n.*808+409_*808+441del) c.1189+409_1189+441del (n.1189+409_1189+441del) c.1252+409_1252+441del (n.1252+409_1252+441del) n.1466+409_1466+441del c.*483+771_*483+803del (n.*483+771_*483+803del) c.*949+409_*949+441del (n.*949+409_*949+441del) c.*971+771_*971+803del (n.*971+771_*971+803del) c.1330+409_1330+441del (n.1330+409_1330+441del) c.1074-567_1074-535del (n.1074-567_1074-535del) n.1104+771_1104+803del c.*1044+409_*1044+441del (n.*1044+409_*1044+441del) n.1177+409_1177+441del c.1146+409_1146+441del (n.1146+409_1146+441del) n.1386_1418del n.2912-567_2912-535del c.*556+409_*556+441del (n.*556+409_*556+441del) c.*86+409_*86+441del (n.*86+409_*86+441del) c.1594+409_1594+441del (n.1594+409_1594+441del) c.*14-567_*14-535del (n.*14-567_*14-535del) c.*812+409_*812+441del (n.*812+409_*812+441del) c.1477+409_1477+441del (n.1477+409_1477+441del) c.413-952_413-920del (n.413-952_413-920del) c.825+771_825+803del (n.825+771_825+803del) c.1179+409_1179+441del (n.1179+409_1179+441del) c.945+771_945+803del c.*667+409_*667+441del (n.*667+409_*667+441del) n.6550+409_6550+441del n.1574+771_1574+803del n.1115+771_1115+803del | |
15 | g.72347245_72347278del | CA618766185 | HEXA | c.1073+770_1073+803del (n.1073+770_1073+803del) c.*808+408_*808+441del (n.*808+408_*808+441del) c.1189+408_1189+441del (n.1189+408_1189+441del) c.1252+408_1252+441del (n.1252+408_1252+441del) n.1466+408_1466+441del c.*483+770_*483+803del (n.*483+770_*483+803del) c.*949+408_*949+441del (n.*949+408_*949+441del) c.*971+770_*971+803del (n.*971+770_*971+803del) c.1330+408_1330+441del (n.1330+408_1330+441del) c.1074-568_1074-535del (n.1074-568_1074-535del) n.1104+770_1104+803del c.*1044+408_*1044+441del (n.*1044+408_*1044+441del) n.1177+408_1177+441del c.1146+408_1146+441del (n.1146+408_1146+441del) n.1385_1418del n.2912-568_2912-535del c.*556+408_*556+441del (n.*556+408_*556+441del) c.*86+408_*86+441del (n.*86+408_*86+441del) c.1594+408_1594+441del (n.1594+408_1594+441del) c.*14-568_*14-535del (n.*14-568_*14-535del) c.*812+408_*812+441del (n.*812+408_*812+441del) c.1477+408_1477+441del (n.1477+408_1477+441del) c.413-953_413-920del (n.413-953_413-920del) c.825+770_825+803del (n.825+770_825+803del) c.1179+408_1179+441del (n.1179+408_1179+441del) c.945+770_945+803del c.*667+408_*667+441del (n.*667+408_*667+441del) n.6550+408_6550+441del n.1574+770_1574+803del n.1115+770_1115+803del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347246A>C | CA2506039738 | HEXA | c.1073+802T>G (n.1073+802T>G) c.*808+440T>G (n.*808+440T>G) c.1189+440T>G (n.1189+440T>G) c.1252+440T>G (n.1252+440T>G) n.1466+440T>G c.*483+802T>G (n.*483+802T>G) c.*949+440T>G (n.*949+440T>G) c.*971+802T>G (n.*971+802T>G) c.1330+440T>G (n.1330+440T>G) c.1074-536T>G (n.1074-536T>G) n.1104+802T>G c.*1044+440T>G (n.*1044+440T>G) n.1177+440T>G c.1146+440T>G (n.1146+440T>G) n.1417T>G n.2912-536T>G c.*556+440T>G (n.*556+440T>G) c.*86+440T>G (n.*86+440T>G) c.1594+440T>G (n.1594+440T>G) c.*14-536T>G (n.*14-536T>G) c.*812+440T>G (n.*812+440T>G) c.1477+440T>G (n.1477+440T>G) c.413-921T>G (n.413-921T>G) c.825+802T>G (n.825+802T>G) c.1179+440T>G (n.1179+440T>G) c.945+802T>G c.*667+440T>G (n.*667+440T>G) n.6550+440T>G n.1574+802T>G n.1115+802T>G | |
15 | g.72347246A>T | CA971330859 | HEXA | c.1073+802T>A (n.1073+802T>A) c.*808+440T>A (n.*808+440T>A) c.1189+440T>A (n.1189+440T>A) c.1252+440T>A (n.1252+440T>A) n.1466+440T>A c.*483+802T>A (n.*483+802T>A) c.*949+440T>A (n.*949+440T>A) c.*971+802T>A (n.*971+802T>A) c.1330+440T>A (n.1330+440T>A) c.1074-536T>A (n.1074-536T>A) n.1104+802T>A c.*1044+440T>A (n.*1044+440T>A) n.1177+440T>A c.1146+440T>A (n.1146+440T>A) n.1417T>A n.2912-536T>A c.*556+440T>A (n.*556+440T>A) c.*86+440T>A (n.*86+440T>A) c.1594+440T>A (n.1594+440T>A) c.*14-536T>A (n.*14-536T>A) c.*812+440T>A (n.*812+440T>A) c.1477+440T>A (n.1477+440T>A) c.413-921T>A (n.413-921T>A) c.825+802T>A (n.825+802T>A) c.1179+440T>A (n.1179+440T>A) c.945+802T>A c.*667+440T>A (n.*667+440T>A) n.6550+440T>A n.1574+802T>A n.1115+802T>A | gnomAD v3 gnomAD v4 |
15 | g.72347250_72347255del | CA971330860 | HEXA | c.1073+795_1073+800del (n.1073+795_1073+800del) c.*808+433_*808+438del (n.*808+433_*808+438del) c.1189+433_1189+438del (n.1189+433_1189+438del) c.1252+433_1252+438del (n.1252+433_1252+438del) n.1466+433_1466+438del c.*483+795_*483+800del (n.*483+795_*483+800del) c.*949+433_*949+438del (n.*949+433_*949+438del) c.*971+795_*971+800del (n.*971+795_*971+800del) c.1330+433_1330+438del (n.1330+433_1330+438del) c.1074-543_1074-538del (n.1074-543_1074-538del) n.1104+795_1104+800del c.*1044+433_*1044+438del (n.*1044+433_*1044+438del) n.1177+433_1177+438del c.1146+433_1146+438del (n.1146+433_1146+438del) n.1410_1415del n.2912-543_2912-538del c.*556+433_*556+438del (n.*556+433_*556+438del) c.*86+433_*86+438del (n.*86+433_*86+438del) c.1594+433_1594+438del (n.1594+433_1594+438del) c.*14-543_*14-538del (n.*14-543_*14-538del) c.*812+433_*812+438del (n.*812+433_*812+438del) c.1477+433_1477+438del (n.1477+433_1477+438del) c.413-928_413-923del (n.413-928_413-923del) c.825+795_825+800del (n.825+795_825+800del) c.1179+433_1179+438del (n.1179+433_1179+438del) c.945+795_945+800del c.*667+433_*667+438del (n.*667+433_*667+438del) n.6550+433_6550+438del n.1574+795_1574+800del n.1115+795_1115+800del | gnomAD v3 gnomAD v4 |
15 | g.72347248_72347260del | CA971330861 | HEXA | c.1073+788_1073+800del (n.1073+788_1073+800del) c.*808+426_*808+438del (n.*808+426_*808+438del) c.1189+426_1189+438del (n.1189+426_1189+438del) c.1252+426_1252+438del (n.1252+426_1252+438del) n.1466+426_1466+438del c.*483+788_*483+800del (n.*483+788_*483+800del) c.*949+426_*949+438del (n.*949+426_*949+438del) c.*971+788_*971+800del (n.*971+788_*971+800del) c.1330+426_1330+438del (n.1330+426_1330+438del) c.1074-550_1074-538del (n.1074-550_1074-538del) n.1104+788_1104+800del c.*1044+426_*1044+438del (n.*1044+426_*1044+438del) n.1177+426_1177+438del c.1146+426_1146+438del (n.1146+426_1146+438del) n.1403_1415del n.2912-550_2912-538del c.*556+426_*556+438del (n.*556+426_*556+438del) c.*86+426_*86+438del (n.*86+426_*86+438del) c.1594+426_1594+438del (n.1594+426_1594+438del) c.*14-550_*14-538del (n.*14-550_*14-538del) c.*812+426_*812+438del (n.*812+426_*812+438del) c.1477+426_1477+438del (n.1477+426_1477+438del) c.413-935_413-923del (n.413-935_413-923del) c.825+788_825+800del (n.825+788_825+800del) c.1179+426_1179+438del (n.1179+426_1179+438del) c.945+788_945+800del c.*667+426_*667+438del (n.*667+426_*667+438del) n.6550+426_6550+438del n.1574+788_1574+800del n.1115+788_1115+800del | gnomAD v3 gnomAD v4 |
15 | g.72347249dup | CA2520226215 | HEXA | c.1073+799dup (n.1073+799dup) c.*808+437dup (n.*808+437dup) c.1189+437dup (n.1189+437dup) c.1252+437dup (n.1252+437dup) n.1466+437dup c.*483+799dup (n.*483+799dup) c.*949+437dup (n.*949+437dup) c.*971+799dup (n.*971+799dup) c.1330+437dup (n.1330+437dup) c.1074-539dup (n.1074-539dup) n.1104+799dup c.*1044+437dup (n.*1044+437dup) n.1177+437dup c.1146+437dup (n.1146+437dup) n.1414dup n.2912-539dup c.*556+437dup (n.*556+437dup) c.*86+437dup (n.*86+437dup) c.1594+437dup (n.1594+437dup) c.*14-539dup (n.*14-539dup) c.*812+437dup (n.*812+437dup) c.1477+437dup (n.1477+437dup) c.413-924dup (n.413-924dup) c.825+799dup (n.825+799dup) c.1179+437dup (n.1179+437dup) c.945+799dup c.*667+437dup (n.*667+437dup) n.6550+437dup n.1574+799dup n.1115+799dup | |
15 | g.72347251T>C | CA272610600 | HEXA | c.1073+797A>G (n.1073+797A>G) c.*808+435A>G (n.*808+435A>G) c.1189+435A>G (n.1189+435A>G) c.1252+435A>G (n.1252+435A>G) n.1466+435A>G c.*483+797A>G (n.*483+797A>G) c.*949+435A>G (n.*949+435A>G) c.*971+797A>G (n.*971+797A>G) c.1330+435A>G (n.1330+435A>G) c.1074-541A>G (n.1074-541A>G) n.1104+797A>G c.*1044+435A>G (n.*1044+435A>G) n.1177+435A>G c.1146+435A>G (n.1146+435A>G) n.1412A>G n.2912-541A>G c.*556+435A>G (n.*556+435A>G) c.*86+435A>G (n.*86+435A>G) c.1594+435A>G (n.1594+435A>G) c.*14-541A>G (n.*14-541A>G) c.*812+435A>G (n.*812+435A>G) c.1477+435A>G (n.1477+435A>G) c.413-926A>G (n.413-926A>G) c.825+797A>G (n.825+797A>G) c.1179+435A>G (n.1179+435A>G) c.945+797A>G c.*667+435A>G (n.*667+435A>G) n.6550+435A>G n.1574+797A>G n.1115+797A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347251T= | CA2186744037 | HEXA | c.1073+797A= (n.1073+797A=) c.*808+435A= (n.*808+435A=) c.1189+435A= (n.1189+435A=) c.1252+435A= (n.1252+435A=) n.1466+435A= c.*483+797A= (n.*483+797A=) c.*949+435A= (n.*949+435A=) c.*971+797A= (n.*971+797A=) c.1330+435A= (n.1330+435A=) c.1074-541A= (n.1074-541A=) n.1104+797A= c.*1044+435A= (n.*1044+435A=) n.1177+435A= c.1146+435A= (n.1146+435A=) n.1412A= n.2912-541A= c.*556+435A= (n.*556+435A=) c.*86+435A= (n.*86+435A=) c.1594+435A= (n.1594+435A=) c.*14-541A= (n.*14-541A=) c.*812+435A= (n.*812+435A=) c.1477+435A= (n.1477+435A=) c.413-926A= (n.413-926A=) c.825+797A= (n.825+797A=) c.1179+435A= (n.1179+435A=) c.945+797A= c.*667+435A= (n.*667+435A=) n.6550+435A= n.1574+797A= n.1115+797A= | |
15 | g.72347251_72347252insGT | CA2560055625 | HEXA | c.1073+797_1073+798insCA (n.1073+797_1073+798insCA) c.*808+435_*808+436insCA (n.*808+435_*808+436insCA) c.1189+435_1189+436insCA (n.1189+435_1189+436insCA) c.1252+435_1252+436insCA (n.1252+435_1252+436insCA) n.1466+435_1466+436insCA c.*483+797_*483+798insCA (n.*483+797_*483+798insCA) c.*949+435_*949+436insCA (n.*949+435_*949+436insCA) c.*971+797_*971+798insCA (n.*971+797_*971+798insCA) c.1330+435_1330+436insCA (n.1330+435_1330+436insCA) c.1074-541_1074-540insCA (n.1074-541_1074-540insCA) n.1104+797_1104+798insCA c.*1044+435_*1044+436insCA (n.*1044+435_*1044+436insCA) n.1177+435_1177+436insCA c.1146+435_1146+436insCA (n.1146+435_1146+436insCA) n.1412_1413insCA n.2912-541_2912-540insCA c.*556+435_*556+436insCA (n.*556+435_*556+436insCA) c.*86+435_*86+436insCA (n.*86+435_*86+436insCA) c.1594+435_1594+436insCA (n.1594+435_1594+436insCA) c.*14-541_*14-540insCA (n.*14-541_*14-540insCA) c.*812+435_*812+436insCA (n.*812+435_*812+436insCA) c.1477+435_1477+436insCA (n.1477+435_1477+436insCA) c.413-926_413-925insCA (n.413-926_413-925insCA) c.825+797_825+798insCA (n.825+797_825+798insCA) c.1179+435_1179+436insCA (n.1179+435_1179+436insCA) c.945+797_945+798insCA c.*667+435_*667+436insCA (n.*667+435_*667+436insCA) n.6550+435_6550+436insCA n.1574+797_1574+798insCA n.1115+797_1115+798insCA | |
15 | g.72347252_72347262del | CA618766187 | HEXA | c.1073+786_1073+796del (n.1073+786_1073+796del) c.*808+424_*808+434del (n.*808+424_*808+434del) c.1189+424_1189+434del (n.1189+424_1189+434del) c.1252+424_1252+434del (n.1252+424_1252+434del) n.1466+424_1466+434del c.*483+786_*483+796del (n.*483+786_*483+796del) c.*949+424_*949+434del (n.*949+424_*949+434del) c.*971+786_*971+796del (n.*971+786_*971+796del) c.1330+424_1330+434del (n.1330+424_1330+434del) c.1074-552_1074-542del (n.1074-552_1074-542del) n.1104+786_1104+796del c.*1044+424_*1044+434del (n.*1044+424_*1044+434del) n.1177+424_1177+434del c.1146+424_1146+434del (n.1146+424_1146+434del) n.1401_1411del n.2912-552_2912-542del c.*556+424_*556+434del (n.*556+424_*556+434del) c.*86+424_*86+434del (n.*86+424_*86+434del) c.1594+424_1594+434del (n.1594+424_1594+434del) c.*14-552_*14-542del (n.*14-552_*14-542del) c.*812+424_*812+434del (n.*812+424_*812+434del) c.1477+424_1477+434del (n.1477+424_1477+434del) c.413-937_413-927del (n.413-937_413-927del) c.825+786_825+796del (n.825+786_825+796del) c.1179+424_1179+434del (n.1179+424_1179+434del) c.945+786_945+796del c.*667+424_*667+434del (n.*667+424_*667+434del) n.6550+424_6550+434del n.1574+786_1574+796del n.1115+786_1115+796del | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347252_72347278del | CA971330862 | HEXA | c.1073+770_1073+796del (n.1073+770_1073+796del) c.*808+408_*808+434del (n.*808+408_*808+434del) c.1189+408_1189+434del (n.1189+408_1189+434del) c.1252+408_1252+434del (n.1252+408_1252+434del) n.1466+408_1466+434del c.*483+770_*483+796del (n.*483+770_*483+796del) c.*949+408_*949+434del (n.*949+408_*949+434del) c.*971+770_*971+796del (n.*971+770_*971+796del) c.1330+408_1330+434del (n.1330+408_1330+434del) c.1074-568_1074-542del (n.1074-568_1074-542del) n.1104+770_1104+796del c.*1044+408_*1044+434del (n.*1044+408_*1044+434del) n.1177+408_1177+434del c.1146+408_1146+434del (n.1146+408_1146+434del) n.1385_1411del n.2912-568_2912-542del c.*556+408_*556+434del (n.*556+408_*556+434del) c.*86+408_*86+434del (n.*86+408_*86+434del) c.1594+408_1594+434del (n.1594+408_1594+434del) c.*14-568_*14-542del (n.*14-568_*14-542del) c.*812+408_*812+434del (n.*812+408_*812+434del) c.1477+408_1477+434del (n.1477+408_1477+434del) c.413-953_413-927del (n.413-953_413-927del) c.825+770_825+796del (n.825+770_825+796del) c.1179+408_1179+434del (n.1179+408_1179+434del) c.945+770_945+796del c.*667+408_*667+434del (n.*667+408_*667+434del) n.6550+408_6550+434del n.1574+770_1574+796del n.1115+770_1115+796del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347254A>C | CA971330863 | HEXA | c.1073+794T>G (n.1073+794T>G) c.*808+432T>G (n.*808+432T>G) c.1189+432T>G (n.1189+432T>G) c.1252+432T>G (n.1252+432T>G) n.1466+432T>G c.*483+794T>G (n.*483+794T>G) c.*949+432T>G (n.*949+432T>G) c.*971+794T>G (n.*971+794T>G) c.1330+432T>G (n.1330+432T>G) c.1074-544T>G (n.1074-544T>G) n.1104+794T>G c.*1044+432T>G (n.*1044+432T>G) n.1177+432T>G c.1146+432T>G (n.1146+432T>G) n.1409T>G n.2912-544T>G c.*556+432T>G (n.*556+432T>G) c.*86+432T>G (n.*86+432T>G) c.1594+432T>G (n.1594+432T>G) c.*14-544T>G (n.*14-544T>G) c.*812+432T>G (n.*812+432T>G) c.1477+432T>G (n.1477+432T>G) c.413-929T>G (n.413-929T>G) c.825+794T>G (n.825+794T>G) c.1179+432T>G (n.1179+432T>G) c.945+794T>G c.*667+432T>G (n.*667+432T>G) n.6550+432T>G n.1574+794T>G n.1115+794T>G | gnomAD v3 gnomAD v4 |
15 | g.72347254A>G | CA971330864 | HEXA | c.1073+794T>C (n.1073+794T>C) c.*808+432T>C (n.*808+432T>C) c.1189+432T>C (n.1189+432T>C) c.1252+432T>C (n.1252+432T>C) n.1466+432T>C c.*483+794T>C (n.*483+794T>C) c.*949+432T>C (n.*949+432T>C) c.*971+794T>C (n.*971+794T>C) c.1330+432T>C (n.1330+432T>C) c.1074-544T>C (n.1074-544T>C) n.1104+794T>C c.*1044+432T>C (n.*1044+432T>C) n.1177+432T>C c.1146+432T>C (n.1146+432T>C) n.1409T>C n.2912-544T>C c.*556+432T>C (n.*556+432T>C) c.*86+432T>C (n.*86+432T>C) c.1594+432T>C (n.1594+432T>C) c.*14-544T>C (n.*14-544T>C) c.*812+432T>C (n.*812+432T>C) c.1477+432T>C (n.1477+432T>C) c.413-929T>C (n.413-929T>C) c.825+794T>C (n.825+794T>C) c.1179+432T>C (n.1179+432T>C) c.945+794T>C c.*667+432T>C (n.*667+432T>C) n.6550+432T>C n.1574+794T>C n.1115+794T>C | gnomAD v3 gnomAD v4 |
15 | g.72347256C>A | CA272610604 | HEXA | c.1073+792G>T (n.1073+792G>T) c.*808+430G>T (n.*808+430G>T) c.1189+430G>T (n.1189+430G>T) c.1252+430G>T (n.1252+430G>T) n.1466+430G>T c.*483+792G>T (n.*483+792G>T) c.*949+430G>T (n.*949+430G>T) c.*971+792G>T (n.*971+792G>T) c.1330+430G>T (n.1330+430G>T) c.1074-546G>T (n.1074-546G>T) n.1104+792G>T c.*1044+430G>T (n.*1044+430G>T) n.1177+430G>T c.1146+430G>T (n.1146+430G>T) n.1407G>T n.2912-546G>T c.*556+430G>T (n.*556+430G>T) c.*86+430G>T (n.*86+430G>T) c.1594+430G>T (n.1594+430G>T) c.*14-546G>T (n.*14-546G>T) c.*812+430G>T (n.*812+430G>T) c.1477+430G>T (n.1477+430G>T) c.413-931G>T (n.413-931G>T) c.825+792G>T (n.825+792G>T) c.1179+430G>T (n.1179+430G>T) c.945+792G>T c.*667+430G>T (n.*667+430G>T) n.6550+430G>T n.1574+792G>T n.1115+792G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347256C= | CA2186744038 | HEXA | c.1073+792G= (n.1073+792G=) c.*808+430G= (n.*808+430G=) c.1189+430G= (n.1189+430G=) c.1252+430G= (n.1252+430G=) n.1466+430G= c.*483+792G= (n.*483+792G=) c.*949+430G= (n.*949+430G=) c.*971+792G= (n.*971+792G=) c.1330+430G= (n.1330+430G=) c.1074-546G= (n.1074-546G=) n.1104+792G= c.*1044+430G= (n.*1044+430G=) n.1177+430G= c.1146+430G= (n.1146+430G=) n.1407G= n.2912-546G= c.*556+430G= (n.*556+430G=) c.*86+430G= (n.*86+430G=) c.1594+430G= (n.1594+430G=) c.*14-546G= (n.*14-546G=) c.*812+430G= (n.*812+430G=) c.1477+430G= (n.1477+430G=) c.413-931G= (n.413-931G=) c.825+792G= (n.825+792G=) c.1179+430G= (n.1179+430G=) c.945+792G= c.*667+430G= (n.*667+430G=) n.6550+430G= n.1574+792G= n.1115+792G= | |
15 | g.72347257C= | CA2186744039 | HEXA | c.1073+791G= (n.1073+791G=) c.*808+429G= (n.*808+429G=) c.1189+429G= (n.1189+429G=) c.1252+429G= (n.1252+429G=) n.1466+429G= c.*483+791G= (n.*483+791G=) c.*949+429G= (n.*949+429G=) c.*971+791G= (n.*971+791G=) c.1330+429G= (n.1330+429G=) c.1074-547G= (n.1074-547G=) n.1104+791G= c.*1044+429G= (n.*1044+429G=) n.1177+429G= c.1146+429G= (n.1146+429G=) n.1406G= n.2912-547G= c.*556+429G= (n.*556+429G=) c.*86+429G= (n.*86+429G=) c.1594+429G= (n.1594+429G=) c.*14-547G= (n.*14-547G=) c.*812+429G= (n.*812+429G=) c.1477+429G= (n.1477+429G=) c.413-932G= (n.413-932G=) c.825+791G= (n.825+791G=) c.1179+429G= (n.1179+429G=) c.945+791G= c.*667+429G= (n.*667+429G=) n.6550+429G= n.1574+791G= n.1115+791G= | |
15 | g.72347257C>T | CA2186744040 | HEXA | c.1073+791G>A (n.1073+791G>A) c.*808+429G>A (n.*808+429G>A) c.1189+429G>A (n.1189+429G>A) c.1252+429G>A (n.1252+429G>A) n.1466+429G>A c.*483+791G>A (n.*483+791G>A) c.*949+429G>A (n.*949+429G>A) c.*971+791G>A (n.*971+791G>A) c.1330+429G>A (n.1330+429G>A) c.1074-547G>A (n.1074-547G>A) n.1104+791G>A c.*1044+429G>A (n.*1044+429G>A) n.1177+429G>A c.1146+429G>A (n.1146+429G>A) n.1406G>A n.2912-547G>A c.*556+429G>A (n.*556+429G>A) c.*86+429G>A (n.*86+429G>A) c.1594+429G>A (n.1594+429G>A) c.*14-547G>A (n.*14-547G>A) c.*812+429G>A (n.*812+429G>A) c.1477+429G>A (n.1477+429G>A) c.413-932G>A (n.413-932G>A) c.825+791G>A (n.825+791G>A) c.1179+429G>A (n.1179+429G>A) c.945+791G>A c.*667+429G>A (n.*667+429G>A) n.6550+429G>A n.1574+791G>A n.1115+791G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347258_72347259delinsAG | CA2186744041 | HEXA | c.1073+789_1073+790delinsCT (n.1073+789_1073+790delinsCT) c.*808+427_*808+428delinsCT (n.*808+427_*808+428delinsCT) c.1189+427_1189+428delinsCT (n.1189+427_1189+428delinsCT) c.1252+427_1252+428delinsCT (n.1252+427_1252+428delinsCT) n.1466+427_1466+428delinsCT c.*483+789_*483+790delinsCT (n.*483+789_*483+790delinsCT) c.*949+427_*949+428delinsCT (n.*949+427_*949+428delinsCT) c.*971+789_*971+790delinsCT (n.*971+789_*971+790delinsCT) c.1330+427_1330+428delinsCT (n.1330+427_1330+428delinsCT) n.1604_1605delinsCT c.1074-549_1074-548delinsCT (n.1074-549_1074-548delinsCT) n.1104+789_1104+790delinsCT c.*1044+427_*1044+428delinsCT (n.*1044+427_*1044+428delinsCT) n.1177+427_1177+428delinsCT c.1146+427_1146+428delinsCT (n.1146+427_1146+428delinsCT) n.1404_1405delinsCT n.2912-549_2912-548delinsCT c.*556+427_*556+428delinsCT (n.*556+427_*556+428delinsCT) c.*86+427_*86+428delinsCT (n.*86+427_*86+428delinsCT) c.1594+427_1594+428delinsCT (n.1594+427_1594+428delinsCT) c.*14-549_*14-548delinsCT (n.*14-549_*14-548delinsCT) c.*812+427_*812+428delinsCT (n.*812+427_*812+428delinsCT) c.1477+427_1477+428delinsCT (n.1477+427_1477+428delinsCT) c.413-934_413-933delinsCT (n.413-934_413-933delinsCT) c.825+789_825+790delinsCT (n.825+789_825+790delinsCT) c.1179+427_1179+428delinsCT (n.1179+427_1179+428delinsCT) c.945+789_945+790delinsCT c.*667+427_*667+428delinsCT (n.*667+427_*667+428delinsCT) n.6550+427_6550+428delinsCT n.1574+789_1574+790delinsCT n.1115+789_1115+790delinsCT | |
15 | g.72347261del | CA715464610 | HEXA | c.1073+789del (n.1073+789del) c.*808+427del (n.*808+427del) c.1189+427del (n.1189+427del) c.1252+427del (n.1252+427del) n.1466+427del c.*483+789del (n.*483+789del) c.*949+427del (n.*949+427del) c.*971+789del (n.*971+789del) c.1330+427del (n.1330+427del) n.1604del c.1074-549del (n.1074-549del) n.1104+789del c.*1044+427del (n.*1044+427del) n.1177+427del c.1146+427del (n.1146+427del) n.1404del n.2912-549del c.*556+427del (n.*556+427del) c.*86+427del (n.*86+427del) c.1594+427del (n.1594+427del) c.*14-549del (n.*14-549del) c.*812+427del (n.*812+427del) c.1477+427del (n.1477+427del) c.413-934del (n.413-934del) c.825+789del (n.825+789del) c.1179+427del (n.1179+427del) c.945+789del c.*667+427del (n.*667+427del) n.6550+427del n.1574+789del n.1115+789del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347260_72347261insCTGGAGT | CA2804700078 | HEXA | c.1073+787_1073+788insACTCCAG (n.1073+787_1073+788insACTCCAG) c.*808+425_*808+426insACTCCAG (n.*808+425_*808+426insACTCCAG) c.1189+425_1189+426insACTCCAG (n.1189+425_1189+426insACTCCAG) c.1252+425_1252+426insACTCCAG (n.1252+425_1252+426insACTCCAG) n.1466+425_1466+426insACTCCAG c.*483+787_*483+788insACTCCAG (n.*483+787_*483+788insACTCCAG) c.*949+425_*949+426insACTCCAG (n.*949+425_*949+426insACTCCAG) c.*971+787_*971+788insACTCCAG (n.*971+787_*971+788insACTCCAG) c.1330+425_1330+426insACTCCAG (n.1330+425_1330+426insACTCCAG) n.1602_1603insACTCCAG c.1074-551_1074-550insACTCCAG (n.1074-551_1074-550insACTCCAG) n.1104+787_1104+788insACTCCAG c.*1044+425_*1044+426insACTCCAG (n.*1044+425_*1044+426insACTCCAG) n.1177+425_1177+426insACTCCAG c.1146+425_1146+426insACTCCAG (n.1146+425_1146+426insACTCCAG) n.1402_1403insACTCCAG n.2912-551_2912-550insACTCCAG c.*556+425_*556+426insACTCCAG (n.*556+425_*556+426insACTCCAG) c.*86+425_*86+426insACTCCAG (n.*86+425_*86+426insACTCCAG) c.1594+425_1594+426insACTCCAG (n.1594+425_1594+426insACTCCAG) c.*14-551_*14-550insACTCCAG (n.*14-551_*14-550insACTCCAG) c.*812+425_*812+426insACTCCAG (n.*812+425_*812+426insACTCCAG) c.1477+425_1477+426insACTCCAG (n.1477+425_1477+426insACTCCAG) c.413-936_413-935insACTCCAG (n.413-936_413-935insACTCCAG) c.825+787_825+788insACTCCAG (n.825+787_825+788insACTCCAG) c.1179+425_1179+426insACTCCAG (n.1179+425_1179+426insACTCCAG) c.945+787_945+788insACTCCAG c.*667+425_*667+426insACTCCAG (n.*667+425_*667+426insACTCCAG) n.6550+425_6550+426insACTCCAG n.1574+787_1574+788insACTCCAG n.1115+787_1115+788insACTCCAG | |
15 | g.72347263T>A | CA2804700079 | HEXA | c.1073+785A>T (n.1073+785A>T) c.*808+423A>T (n.*808+423A>T) c.1189+423A>T (n.1189+423A>T) c.1252+423A>T (n.1252+423A>T) n.1466+423A>T c.*483+785A>T (n.*483+785A>T) c.*949+423A>T (n.*949+423A>T) c.*971+785A>T (n.*971+785A>T) c.1330+423A>T (n.1330+423A>T) n.1600A>T c.1074-553A>T (n.1074-553A>T) n.1104+785A>T c.*1044+423A>T (n.*1044+423A>T) n.1177+423A>T c.1146+423A>T (n.1146+423A>T) n.1400A>T n.2912-553A>T c.*556+423A>T (n.*556+423A>T) c.*86+423A>T (n.*86+423A>T) c.1594+423A>T (n.1594+423A>T) c.*14-553A>T (n.*14-553A>T) c.*812+423A>T (n.*812+423A>T) c.1477+423A>T (n.1477+423A>T) c.413-938A>T (n.413-938A>T) c.825+785A>T (n.825+785A>T) c.1179+423A>T (n.1179+423A>T) c.945+785A>T c.*667+423A>T (n.*667+423A>T) n.6550+423A>T n.1574+785A>T n.1115+785A>T | |
15 | g.72347263_72347267del | CA971330865 | HEXA | c.1073+781_1073+785del (n.1073+781_1073+785del) c.*808+419_*808+423del (n.*808+419_*808+423del) c.1189+419_1189+423del (n.1189+419_1189+423del) c.1252+419_1252+423del (n.1252+419_1252+423del) n.1466+419_1466+423del c.*483+781_*483+785del (n.*483+781_*483+785del) c.*949+419_*949+423del (n.*949+419_*949+423del) c.*971+781_*971+785del (n.*971+781_*971+785del) c.1330+419_1330+423del (n.1330+419_1330+423del) n.1596_1600del c.1074-557_1074-553del (n.1074-557_1074-553del) n.1104+781_1104+785del c.*1044+419_*1044+423del (n.*1044+419_*1044+423del) n.1177+419_1177+423del c.1146+419_1146+423del (n.1146+419_1146+423del) n.1396_1400del n.2912-557_2912-553del c.*556+419_*556+423del (n.*556+419_*556+423del) c.*86+419_*86+423del (n.*86+419_*86+423del) c.1594+419_1594+423del (n.1594+419_1594+423del) c.*14-557_*14-553del (n.*14-557_*14-553del) c.*812+419_*812+423del (n.*812+419_*812+423del) c.1477+419_1477+423del (n.1477+419_1477+423del) c.413-942_413-938del (n.413-942_413-938del) c.825+781_825+785del (n.825+781_825+785del) c.1179+419_1179+423del (n.1179+419_1179+423del) c.945+781_945+785del c.*667+419_*667+423del (n.*667+419_*667+423del) n.6550+419_6550+423del n.1574+781_1574+785del n.1115+781_1115+785del | gnomAD v3 gnomAD v4 |
15 | g.72347264C>T | CA618766192 | HEXA | c.1073+784G>A (n.1073+784G>A) c.*808+422G>A (n.*808+422G>A) c.1189+422G>A (n.1189+422G>A) c.1252+422G>A (n.1252+422G>A) n.1466+422G>A c.*483+784G>A (n.*483+784G>A) c.*949+422G>A (n.*949+422G>A) c.*971+784G>A (n.*971+784G>A) c.1330+422G>A (n.1330+422G>A) n.1599G>A c.1074-554G>A (n.1074-554G>A) n.1104+784G>A c.*1044+422G>A (n.*1044+422G>A) n.1177+422G>A c.1146+422G>A (n.1146+422G>A) n.1399G>A n.2912-554G>A c.*556+422G>A (n.*556+422G>A) c.*86+422G>A (n.*86+422G>A) c.1594+422G>A (n.1594+422G>A) c.*14-554G>A (n.*14-554G>A) c.*812+422G>A (n.*812+422G>A) c.1477+422G>A (n.1477+422G>A) c.413-939G>A (n.413-939G>A) c.825+784G>A (n.825+784G>A) c.1179+422G>A (n.1179+422G>A) c.945+784G>A c.*667+422G>A (n.*667+422G>A) n.6550+422G>A n.1574+784G>A n.1115+784G>A | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347264_72347265del | CA971330866 | HEXA | c.1073+783_1073+784del (n.1073+783_1073+784del) c.*808+421_*808+422del (n.*808+421_*808+422del) c.1189+421_1189+422del (n.1189+421_1189+422del) c.1252+421_1252+422del (n.1252+421_1252+422del) n.1466+421_1466+422del c.*483+783_*483+784del (n.*483+783_*483+784del) c.*949+421_*949+422del (n.*949+421_*949+422del) c.*971+783_*971+784del (n.*971+783_*971+784del) c.1330+421_1330+422del (n.1330+421_1330+422del) n.1598_1599del c.1074-555_1074-554del (n.1074-555_1074-554del) n.1104+783_1104+784del c.*1044+421_*1044+422del (n.*1044+421_*1044+422del) n.1177+421_1177+422del c.1146+421_1146+422del (n.1146+421_1146+422del) n.1398_1399del n.2912-555_2912-554del c.*556+421_*556+422del (n.*556+421_*556+422del) c.*86+421_*86+422del (n.*86+421_*86+422del) c.1594+421_1594+422del (n.1594+421_1594+422del) c.*14-555_*14-554del (n.*14-555_*14-554del) c.*812+421_*812+422del (n.*812+421_*812+422del) c.1477+421_1477+422del (n.1477+421_1477+422del) c.413-940_413-939del (n.413-940_413-939del) c.825+783_825+784del (n.825+783_825+784del) c.1179+421_1179+422del (n.1179+421_1179+422del) c.945+783_945+784del c.*667+421_*667+422del (n.*667+421_*667+422del) n.6550+421_6550+422del n.1574+783_1574+784del n.1115+783_1115+784del | gnomAD v3 gnomAD v4 |
15 | g.72347264_72347278del | CA618766191 | HEXA | c.1073+770_1073+784del (n.1073+770_1073+784del) c.*808+408_*808+422del (n.*808+408_*808+422del) c.1189+408_1189+422del (n.1189+408_1189+422del) c.1252+408_1252+422del (n.1252+408_1252+422del) n.1466+408_1466+422del c.*483+770_*483+784del (n.*483+770_*483+784del) c.*949+408_*949+422del (n.*949+408_*949+422del) c.*971+770_*971+784del (n.*971+770_*971+784del) c.1330+408_1330+422del (n.1330+408_1330+422del) n.1585_1599del c.1074-568_1074-554del (n.1074-568_1074-554del) n.1104+770_1104+784del c.*1044+408_*1044+422del (n.*1044+408_*1044+422del) n.1177+408_1177+422del c.1146+408_1146+422del (n.1146+408_1146+422del) n.1385_1399del n.2912-568_2912-554del c.*556+408_*556+422del (n.*556+408_*556+422del) c.*86+408_*86+422del (n.*86+408_*86+422del) c.1594+408_1594+422del (n.1594+408_1594+422del) c.*14-568_*14-554del (n.*14-568_*14-554del) c.*812+408_*812+422del (n.*812+408_*812+422del) c.1477+408_1477+422del (n.1477+408_1477+422del) c.413-953_413-939del (n.413-953_413-939del) c.825+770_825+784del (n.825+770_825+784del) c.1179+408_1179+422del (n.1179+408_1179+422del) c.945+770_945+784del c.*667+408_*667+422del (n.*667+408_*667+422del) n.6550+408_6550+422del n.1574+770_1574+784del n.1115+770_1115+784del | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347265A>T | CA618766193 | HEXA | c.1073+783T>A (n.1073+783T>A) c.*808+421T>A (n.*808+421T>A) c.1189+421T>A (n.1189+421T>A) c.1252+421T>A (n.1252+421T>A) n.1466+421T>A c.*483+783T>A (n.*483+783T>A) c.*949+421T>A (n.*949+421T>A) c.*971+783T>A (n.*971+783T>A) c.1330+421T>A (n.1330+421T>A) n.1598T>A c.1074-555T>A (n.1074-555T>A) n.1104+783T>A c.*1044+421T>A (n.*1044+421T>A) n.1177+421T>A c.1146+421T>A (n.1146+421T>A) n.1398T>A n.2912-555T>A c.*556+421T>A (n.*556+421T>A) c.*86+421T>A (n.*86+421T>A) c.1594+421T>A (n.1594+421T>A) c.*14-555T>A (n.*14-555T>A) c.*812+421T>A (n.*812+421T>A) c.1477+421T>A (n.1477+421T>A) c.413-940T>A (n.413-940T>A) c.825+783T>A (n.825+783T>A) c.1179+421T>A (n.1179+421T>A) c.945+783T>A c.*667+421T>A (n.*667+421T>A) n.6550+421T>A n.1574+783T>A n.1115+783T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347267_72347278del | CA971330867 | HEXA | c.1073+770_1073+781del (n.1073+770_1073+781del) c.*808+408_*808+419del (n.*808+408_*808+419del) c.1189+408_1189+419del (n.1189+408_1189+419del) c.1252+408_1252+419del (n.1252+408_1252+419del) n.1466+408_1466+419del c.*483+770_*483+781del (n.*483+770_*483+781del) c.*949+408_*949+419del (n.*949+408_*949+419del) c.*971+770_*971+781del (n.*971+770_*971+781del) c.1330+408_1330+419del (n.1330+408_1330+419del) n.1585_1596del c.1074-568_1074-557del (n.1074-568_1074-557del) n.1104+770_1104+781del c.*1044+408_*1044+419del (n.*1044+408_*1044+419del) n.1177+408_1177+419del c.1146+408_1146+419del (n.1146+408_1146+419del) n.1385_1396del n.2912-568_2912-557del c.*556+408_*556+419del (n.*556+408_*556+419del) c.*86+408_*86+419del (n.*86+408_*86+419del) c.1594+408_1594+419del (n.1594+408_1594+419del) c.*14-568_*14-557del (n.*14-568_*14-557del) c.*812+408_*812+419del (n.*812+408_*812+419del) c.1477+408_1477+419del (n.1477+408_1477+419del) c.413-953_413-942del (n.413-953_413-942del) c.825+770_825+781del (n.825+770_825+781del) c.1179+408_1179+419del (n.1179+408_1179+419del) c.945+770_945+781del c.*667+408_*667+419del (n.*667+408_*667+419del) n.6550+408_6550+419del n.1574+770_1574+781del n.1115+770_1115+781del | gnomAD v3 gnomAD v4 |
15 | g.72347268C= | CA2186744042 | HEXA | c.1073+780G= (n.1073+780G=) c.*808+418G= (n.*808+418G=) c.1189+418G= (n.1189+418G=) c.1252+418G= (n.1252+418G=) n.1466+418G= c.*483+780G= (n.*483+780G=) c.*949+418G= (n.*949+418G=) c.*971+780G= (n.*971+780G=) c.1330+418G= (n.1330+418G=) n.1595G= c.1074-558G= (n.1074-558G=) n.1104+780G= c.*1044+418G= (n.*1044+418G=) n.1177+418G= c.1146+418G= (n.1146+418G=) n.1395G= n.2912-558G= c.*556+418G= (n.*556+418G=) c.*86+418G= (n.*86+418G=) c.1594+418G= (n.1594+418G=) c.*14-558G= (n.*14-558G=) c.*812+418G= (n.*812+418G=) c.1477+418G= (n.1477+418G=) c.413-943G= (n.413-943G=) c.825+780G= (n.825+780G=) c.1179+418G= (n.1179+418G=) c.945+780G= c.*667+418G= (n.*667+418G=) n.6550+418G= n.1574+780G= n.1115+780G= | |
15 | g.72347268C>T | CA272610617 | HEXA | c.1073+780G>A (n.1073+780G>A) c.*808+418G>A (n.*808+418G>A) c.1189+418G>A (n.1189+418G>A) c.1252+418G>A (n.1252+418G>A) n.1466+418G>A c.*483+780G>A (n.*483+780G>A) c.*949+418G>A (n.*949+418G>A) c.*971+780G>A (n.*971+780G>A) c.1330+418G>A (n.1330+418G>A) n.1595G>A c.1074-558G>A (n.1074-558G>A) n.1104+780G>A c.*1044+418G>A (n.*1044+418G>A) n.1177+418G>A c.1146+418G>A (n.1146+418G>A) n.1395G>A n.2912-558G>A c.*556+418G>A (n.*556+418G>A) c.*86+418G>A (n.*86+418G>A) c.1594+418G>A (n.1594+418G>A) c.*14-558G>A (n.*14-558G>A) c.*812+418G>A (n.*812+418G>A) c.1477+418G>A (n.1477+418G>A) c.413-943G>A (n.413-943G>A) c.825+780G>A (n.825+780G>A) c.1179+418G>A (n.1179+418G>A) c.945+780G>A c.*667+418G>A (n.*667+418G>A) n.6550+418G>A n.1574+780G>A n.1115+780G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347271_72347274del | CA971330868 | HEXA | c.1073+774_1073+777del (n.1073+774_1073+777del) c.*808+412_*808+415del (n.*808+412_*808+415del) c.1189+412_1189+415del (n.1189+412_1189+415del) c.1252+412_1252+415del (n.1252+412_1252+415del) n.1466+412_1466+415del c.*483+774_*483+777del (n.*483+774_*483+777del) c.*949+412_*949+415del (n.*949+412_*949+415del) c.*971+774_*971+777del (n.*971+774_*971+777del) c.1330+412_1330+415del (n.1330+412_1330+415del) n.1589_1592del c.1074-564_1074-561del (n.1074-564_1074-561del) n.1104+774_1104+777del c.*1044+412_*1044+415del (n.*1044+412_*1044+415del) n.1177+412_1177+415del c.1146+412_1146+415del (n.1146+412_1146+415del) n.1389_1392del n.2912-564_2912-561del c.*556+412_*556+415del (n.*556+412_*556+415del) c.*86+412_*86+415del (n.*86+412_*86+415del) c.1594+412_1594+415del (n.1594+412_1594+415del) c.*14-564_*14-561del (n.*14-564_*14-561del) c.*812+412_*812+415del (n.*812+412_*812+415del) c.1477+412_1477+415del (n.1477+412_1477+415del) c.413-949_413-946del (n.413-949_413-946del) c.825+774_825+777del (n.825+774_825+777del) c.1179+412_1179+415del (n.1179+412_1179+415del) c.945+774_945+777del c.*667+412_*667+415del (n.*667+412_*667+415del) n.6550+412_6550+415del n.1574+774_1574+777del n.1115+774_1115+777del | gnomAD v3 gnomAD v4 |
15 | g.72347274C= | CA2186744043 | HEXA | c.1073+774G= (n.1073+774G=) c.*808+412G= (n.*808+412G=) c.1189+412G= (n.1189+412G=) c.1252+412G= (n.1252+412G=) n.1466+412G= c.*483+774G= (n.*483+774G=) c.*949+412G= (n.*949+412G=) c.*971+774G= (n.*971+774G=) c.1330+412G= (n.1330+412G=) n.1589G= c.1074-564G= (n.1074-564G=) n.1104+774G= c.*1044+412G= (n.*1044+412G=) n.1177+412G= c.1146+412G= (n.1146+412G=) n.1389G= n.2912-564G= c.*556+412G= (n.*556+412G=) c.*86+412G= (n.*86+412G=) c.1594+412G= (n.1594+412G=) c.*14-564G= (n.*14-564G=) c.*812+412G= (n.*812+412G=) c.1477+412G= (n.1477+412G=) c.413-949G= (n.413-949G=) c.825+774G= (n.825+774G=) c.1179+412G= (n.1179+412G=) c.945+774G= c.*667+412G= (n.*667+412G=) n.6550+412G= n.1574+774G= n.1115+774G= | |
15 | g.72347274C>T | CA272610620 | HEXA | c.1073+774G>A (n.1073+774G>A) c.*808+412G>A (n.*808+412G>A) c.1189+412G>A (n.1189+412G>A) c.1252+412G>A (n.1252+412G>A) n.1466+412G>A c.*483+774G>A (n.*483+774G>A) c.*949+412G>A (n.*949+412G>A) c.*971+774G>A (n.*971+774G>A) c.1330+412G>A (n.1330+412G>A) n.1589G>A c.1074-564G>A (n.1074-564G>A) n.1104+774G>A c.*1044+412G>A (n.*1044+412G>A) n.1177+412G>A c.1146+412G>A (n.1146+412G>A) n.1389G>A n.2912-564G>A c.*556+412G>A (n.*556+412G>A) c.*86+412G>A (n.*86+412G>A) c.1594+412G>A (n.1594+412G>A) c.*14-564G>A (n.*14-564G>A) c.*812+412G>A (n.*812+412G>A) c.1477+412G>A (n.1477+412G>A) c.413-949G>A (n.413-949G>A) c.825+774G>A (n.825+774G>A) c.1179+412G>A (n.1179+412G>A) c.945+774G>A c.*667+412G>A (n.*667+412G>A) n.6550+412G>A n.1574+774G>A n.1115+774G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347275G>A | CA272610624 | HEXA | c.1073+773C>T (n.1073+773C>T) c.*808+411C>T (n.*808+411C>T) c.1189+411C>T (n.1189+411C>T) c.1252+411C>T (n.1252+411C>T) n.1466+411C>T c.*483+773C>T (n.*483+773C>T) c.*949+411C>T (n.*949+411C>T) c.*971+773C>T (n.*971+773C>T) c.1330+411C>T (n.1330+411C>T) n.1588C>T c.1074-565C>T (n.1074-565C>T) n.1104+773C>T c.*1044+411C>T (n.*1044+411C>T) n.1177+411C>T c.1146+411C>T (n.1146+411C>T) n.1388C>T n.2912-565C>T c.*556+411C>T (n.*556+411C>T) c.*86+411C>T (n.*86+411C>T) c.1594+411C>T (n.1594+411C>T) c.*14-565C>T (n.*14-565C>T) c.*812+411C>T (n.*812+411C>T) c.1477+411C>T (n.1477+411C>T) c.413-950C>T (n.413-950C>T) c.825+773C>T (n.825+773C>T) c.1179+411C>T (n.1179+411C>T) c.945+773C>T c.*667+411C>T (n.*667+411C>T) n.6550+411C>T n.1574+773C>T n.1115+773C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347275G= | CA2186744044 | HEXA | c.1073+773C= (n.1073+773C=) c.*808+411C= (n.*808+411C=) c.1189+411C= (n.1189+411C=) c.1252+411C= (n.1252+411C=) n.1466+411C= c.*483+773C= (n.*483+773C=) c.*949+411C= (n.*949+411C=) c.*971+773C= (n.*971+773C=) c.1330+411C= (n.1330+411C=) n.1588C= c.1074-565C= (n.1074-565C=) n.1104+773C= c.*1044+411C= (n.*1044+411C=) n.1177+411C= c.1146+411C= (n.1146+411C=) n.1388C= n.2912-565C= c.*556+411C= (n.*556+411C=) c.*86+411C= (n.*86+411C=) c.1594+411C= (n.1594+411C=) c.*14-565C= (n.*14-565C=) c.*812+411C= (n.*812+411C=) c.1477+411C= (n.1477+411C=) c.413-950C= (n.413-950C=) c.825+773C= (n.825+773C=) c.1179+411C= (n.1179+411C=) c.945+773C= c.*667+411C= (n.*667+411C=) n.6550+411C= n.1574+773C= n.1115+773C= | |
15 | g.72347278C= | CA2186744045 | HEXA | c.1073+770G= (n.1073+770G=) c.*808+408G= (n.*808+408G=) c.1189+408G= (n.1189+408G=) c.1252+408G= (n.1252+408G=) n.1466+408G= c.*483+770G= (n.*483+770G=) c.*949+408G= (n.*949+408G=) c.*971+770G= (n.*971+770G=) c.1330+408G= (n.1330+408G=) n.1585G= c.1074-568G= (n.1074-568G=) n.1104+770G= c.*1044+408G= (n.*1044+408G=) n.1177+408G= c.1146+408G= (n.1146+408G=) n.1385G= n.2912-568G= c.*556+408G= (n.*556+408G=) c.*86+408G= (n.*86+408G=) c.1594+408G= (n.1594+408G=) c.*14-568G= (n.*14-568G=) c.*812+408G= (n.*812+408G=) c.1477+408G= (n.1477+408G=) c.413-953G= (n.413-953G=) c.825+770G= (n.825+770G=) c.1179+408G= (n.1179+408G=) c.945+770G= c.*667+408G= (n.*667+408G=) n.6550+408G= n.1574+770G= n.1115+770G= | |
15 | g.72347278C>G | CA272610625 | HEXA | c.1073+770G>C (n.1073+770G>C) c.*808+408G>C (n.*808+408G>C) c.1189+408G>C (n.1189+408G>C) c.1252+408G>C (n.1252+408G>C) n.1466+408G>C c.*483+770G>C (n.*483+770G>C) c.*949+408G>C (n.*949+408G>C) c.*971+770G>C (n.*971+770G>C) c.1330+408G>C (n.1330+408G>C) n.1585G>C c.1074-568G>C (n.1074-568G>C) n.1104+770G>C c.*1044+408G>C (n.*1044+408G>C) n.1177+408G>C c.1146+408G>C (n.1146+408G>C) n.1385G>C n.2912-568G>C c.*556+408G>C (n.*556+408G>C) c.*86+408G>C (n.*86+408G>C) c.1594+408G>C (n.1594+408G>C) c.*14-568G>C (n.*14-568G>C) c.*812+408G>C (n.*812+408G>C) c.1477+408G>C (n.1477+408G>C) c.413-953G>C (n.413-953G>C) c.825+770G>C (n.825+770G>C) c.1179+408G>C (n.1179+408G>C) c.945+770G>C c.*667+408G>C (n.*667+408G>C) n.6550+408G>C n.1574+770G>C n.1115+770G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347278_72347280del | CA971330869 | HEXA | c.1073+768_1073+770del (n.1073+768_1073+770del) c.*808+406_*808+408del (n.*808+406_*808+408del) c.1189+406_1189+408del (n.1189+406_1189+408del) c.1252+406_1252+408del (n.1252+406_1252+408del) n.1466+406_1466+408del c.*483+768_*483+770del (n.*483+768_*483+770del) c.*949+406_*949+408del (n.*949+406_*949+408del) c.*971+768_*971+770del (n.*971+768_*971+770del) c.1330+406_1330+408del (n.1330+406_1330+408del) n.1583_1585del c.1074-570_1074-568del (n.1074-570_1074-568del) n.1104+768_1104+770del c.*1044+406_*1044+408del (n.*1044+406_*1044+408del) n.1177+406_1177+408del c.1146+406_1146+408del (n.1146+406_1146+408del) n.1383_1385del n.2912-570_2912-568del c.*556+406_*556+408del (n.*556+406_*556+408del) c.*86+406_*86+408del (n.*86+406_*86+408del) c.1594+406_1594+408del (n.1594+406_1594+408del) c.*14-570_*14-568del (n.*14-570_*14-568del) c.*812+406_*812+408del (n.*812+406_*812+408del) c.1477+406_1477+408del (n.1477+406_1477+408del) c.413-955_413-953del (n.413-955_413-953del) c.825+768_825+770del (n.825+768_825+770del) c.1179+406_1179+408del (n.1179+406_1179+408del) c.945+768_945+770del c.*667+406_*667+408del (n.*667+406_*667+408del) n.6550+406_6550+408del n.1574+768_1574+770del n.1115+768_1115+770del | gnomAD v3 gnomAD v4 |
15 | g.72347281dup | CA2804700082 | HEXA | c.1073+769dup (n.1073+769dup) c.*808+407dup (n.*808+407dup) c.1189+407dup (n.1189+407dup) c.1252+407dup (n.1252+407dup) n.1466+407dup c.*483+769dup (n.*483+769dup) c.*949+407dup (n.*949+407dup) c.*971+769dup (n.*971+769dup) c.1330+407dup (n.1330+407dup) n.1584dup c.1074-569dup (n.1074-569dup) n.1104+769dup c.*1044+407dup (n.*1044+407dup) n.1177+407dup c.1146+407dup (n.1146+407dup) n.1384dup n.2912-569dup c.*556+407dup (n.*556+407dup) c.*86+407dup (n.*86+407dup) c.1594+407dup (n.1594+407dup) c.*14-569dup (n.*14-569dup) c.*812+407dup (n.*812+407dup) c.1477+407dup (n.1477+407dup) c.413-954dup (n.413-954dup) c.825+769dup (n.825+769dup) c.1179+407dup (n.1179+407dup) c.945+769dup c.*667+407dup (n.*667+407dup) n.6550+407dup n.1574+769dup n.1115+769dup | |
15 | g.72347280T>G | CA272610626 | HEXA | c.1073+768A>C (n.1073+768A>C) c.*808+406A>C (n.*808+406A>C) c.1189+406A>C (n.1189+406A>C) c.1252+406A>C (n.1252+406A>C) n.1466+406A>C c.*483+768A>C (n.*483+768A>C) c.*949+406A>C (n.*949+406A>C) c.*971+768A>C (n.*971+768A>C) c.1330+406A>C (n.1330+406A>C) n.1583A>C c.1074-570A>C (n.1074-570A>C) n.1104+768A>C c.*1044+406A>C (n.*1044+406A>C) n.1177+406A>C c.1146+406A>C (n.1146+406A>C) n.1383A>C n.2912-570A>C c.*556+406A>C (n.*556+406A>C) c.*86+406A>C (n.*86+406A>C) c.1594+406A>C (n.1594+406A>C) c.*14-570A>C (n.*14-570A>C) c.*812+406A>C (n.*812+406A>C) c.1477+406A>C (n.1477+406A>C) c.413-955A>C (n.413-955A>C) c.825+768A>C (n.825+768A>C) c.1179+406A>C (n.1179+406A>C) c.945+768A>C c.*667+406A>C (n.*667+406A>C) n.6550+406A>C n.1574+768A>C n.1115+768A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347280T= | CA2186744046 | HEXA | c.1073+768A= (n.1073+768A=) c.*808+406A= (n.*808+406A=) c.1189+406A= (n.1189+406A=) c.1252+406A= (n.1252+406A=) n.1466+406A= c.*483+768A= (n.*483+768A=) c.*949+406A= (n.*949+406A=) c.*971+768A= (n.*971+768A=) c.1330+406A= (n.1330+406A=) n.1583A= c.1074-570A= (n.1074-570A=) n.1104+768A= c.*1044+406A= (n.*1044+406A=) n.1177+406A= c.1146+406A= (n.1146+406A=) n.1383A= n.2912-570A= c.*556+406A= (n.*556+406A=) c.*86+406A= (n.*86+406A=) c.1594+406A= (n.1594+406A=) c.*14-570A= (n.*14-570A=) c.*812+406A= (n.*812+406A=) c.1477+406A= (n.1477+406A=) c.413-955A= (n.413-955A=) c.825+768A= (n.825+768A=) c.1179+406A= (n.1179+406A=) c.945+768A= c.*667+406A= (n.*667+406A=) n.6550+406A= n.1574+768A= n.1115+768A= | |
15 | g.72347281_72347283delinsTGG | CA2186744047 | HEXA | c.1073+765_1073+767delinsCCA (n.1073+765_1073+767delinsCCA) c.*808+403_*808+405delinsCCA (n.*808+403_*808+405delinsCCA) c.1189+403_1189+405delinsCCA (n.1189+403_1189+405delinsCCA) c.1252+403_1252+405delinsCCA (n.1252+403_1252+405delinsCCA) n.1466+403_1466+405delinsCCA c.*483+765_*483+767delinsCCA (n.*483+765_*483+767delinsCCA) c.*949+403_*949+405delinsCCA (n.*949+403_*949+405delinsCCA) c.*971+765_*971+767delinsCCA (n.*971+765_*971+767delinsCCA) c.1330+403_1330+405delinsCCA (n.1330+403_1330+405delinsCCA) n.1580_1582delinsCCA c.1074-573_1074-571delinsCCA (n.1074-573_1074-571delinsCCA) n.1104+765_1104+767delinsCCA c.*1044+403_*1044+405delinsCCA (n.*1044+403_*1044+405delinsCCA) n.1177+403_1177+405delinsCCA c.1146+403_1146+405delinsCCA (n.1146+403_1146+405delinsCCA) n.1380_1382delinsCCA n.2912-573_2912-571delinsCCA c.*556+403_*556+405delinsCCA (n.*556+403_*556+405delinsCCA) c.*86+403_*86+405delinsCCA (n.*86+403_*86+405delinsCCA) c.1594+403_1594+405delinsCCA (n.1594+403_1594+405delinsCCA) c.*14-573_*14-571delinsCCA (n.*14-573_*14-571delinsCCA) c.*812+403_*812+405delinsCCA (n.*812+403_*812+405delinsCCA) c.1477+403_1477+405delinsCCA (n.1477+403_1477+405delinsCCA) c.413-958_413-956delinsCCA (n.413-958_413-956delinsCCA) c.825+765_825+767delinsCCA (n.825+765_825+767delinsCCA) c.1179+403_1179+405delinsCCA (n.1179+403_1179+405delinsCCA) c.945+765_945+767delinsCCA c.*667+403_*667+405delinsCCA (n.*667+403_*667+405delinsCCA) n.6550+403_6550+405delinsCCA n.1574+765_1574+767delinsCCA n.1115+765_1115+767delinsCCA | |
15 | g.72347282_72347284del | CA618766199 | HEXA | c.1073+765_1073+767del (n.1073+765_1073+767del) c.*808+403_*808+405del (n.*808+403_*808+405del) c.1189+403_1189+405del (n.1189+403_1189+405del) c.1252+403_1252+405del (n.1252+403_1252+405del) n.1466+403_1466+405del c.*483+765_*483+767del (n.*483+765_*483+767del) c.*949+403_*949+405del (n.*949+403_*949+405del) c.*971+765_*971+767del (n.*971+765_*971+767del) c.1330+403_1330+405del (n.1330+403_1330+405del) n.1580_1582del c.1074-573_1074-571del (n.1074-573_1074-571del) n.1104+765_1104+767del c.*1044+403_*1044+405del (n.*1044+403_*1044+405del) n.1177+403_1177+405del c.1146+403_1146+405del (n.1146+403_1146+405del) n.1380_1382del n.2912-573_2912-571del c.*556+403_*556+405del (n.*556+403_*556+405del) c.*86+403_*86+405del (n.*86+403_*86+405del) c.1594+403_1594+405del (n.1594+403_1594+405del) c.*14-573_*14-571del (n.*14-573_*14-571del) c.*812+403_*812+405del (n.*812+403_*812+405del) c.1477+403_1477+405del (n.1477+403_1477+405del) c.413-958_413-956del (n.413-958_413-956del) c.825+765_825+767del (n.825+765_825+767del) c.1179+403_1179+405del (n.1179+403_1179+405del) c.945+765_945+767del c.*667+403_*667+405del (n.*667+403_*667+405del) n.6550+403_6550+405del n.1574+765_1574+767del n.1115+765_1115+767del | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347282G= | CA2186744049 | HEXA | c.1073+766C= (n.1073+766C=) c.*808+404C= (n.*808+404C=) c.1189+404C= (n.1189+404C=) c.1252+404C= (n.1252+404C=) n.1466+404C= c.*483+766C= (n.*483+766C=) c.*949+404C= (n.*949+404C=) c.*971+766C= (n.*971+766C=) c.1330+404C= (n.1330+404C=) n.1581C= c.1074-572C= (n.1074-572C=) n.1104+766C= c.*1044+404C= (n.*1044+404C=) n.1177+404C= c.1146+404C= (n.1146+404C=) n.1381C= n.2912-572C= c.*556+404C= (n.*556+404C=) c.*86+404C= (n.*86+404C=) c.1594+404C= (n.1594+404C=) c.*14-572C= (n.*14-572C=) c.*812+404C= (n.*812+404C=) c.1477+404C= (n.1477+404C=) c.413-957C= (n.413-957C=) c.825+766C= (n.825+766C=) c.1179+404C= (n.1179+404C=) c.945+766C= c.*667+404C= (n.*667+404C=) n.6550+404C= n.1574+766C= n.1115+766C= | |
15 | g.72347282G>T | CA618766201 | HEXA | c.1073+766C>A (n.1073+766C>A) c.*808+404C>A (n.*808+404C>A) c.1189+404C>A (n.1189+404C>A) c.1252+404C>A (n.1252+404C>A) n.1466+404C>A c.*483+766C>A (n.*483+766C>A) c.*949+404C>A (n.*949+404C>A) c.*971+766C>A (n.*971+766C>A) c.1330+404C>A (n.1330+404C>A) n.1581C>A c.1074-572C>A (n.1074-572C>A) n.1104+766C>A c.*1044+404C>A (n.*1044+404C>A) n.1177+404C>A c.1146+404C>A (n.1146+404C>A) n.1381C>A n.2912-572C>A c.*556+404C>A (n.*556+404C>A) c.*86+404C>A (n.*86+404C>A) c.1594+404C>A (n.1594+404C>A) c.*14-572C>A (n.*14-572C>A) c.*812+404C>A (n.*812+404C>A) c.1477+404C>A (n.1477+404C>A) c.413-957C>A (n.413-957C>A) c.825+766C>A (n.825+766C>A) c.1179+404C>A (n.1179+404C>A) c.945+766C>A c.*667+404C>A (n.*667+404C>A) n.6550+404C>A n.1574+766C>A n.1115+766C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347282_72347283del | CA618766200 | HEXA | c.1073+765_1073+766del (n.1073+765_1073+766del) c.*808+403_*808+404del (n.*808+403_*808+404del) c.1189+403_1189+404del (n.1189+403_1189+404del) c.1252+403_1252+404del (n.1252+403_1252+404del) n.1466+403_1466+404del c.*483+765_*483+766del (n.*483+765_*483+766del) c.*949+403_*949+404del (n.*949+403_*949+404del) c.*971+765_*971+766del (n.*971+765_*971+766del) c.1330+403_1330+404del (n.1330+403_1330+404del) n.1580_1581del c.1074-573_1074-572del (n.1074-573_1074-572del) n.1104+765_1104+766del c.*1044+403_*1044+404del (n.*1044+403_*1044+404del) n.1177+403_1177+404del c.1146+403_1146+404del (n.1146+403_1146+404del) n.1380_1381del n.2912-573_2912-572del c.*556+403_*556+404del (n.*556+403_*556+404del) c.*86+403_*86+404del (n.*86+403_*86+404del) c.1594+403_1594+404del (n.1594+403_1594+404del) c.*14-573_*14-572del (n.*14-573_*14-572del) c.*812+403_*812+404del (n.*812+403_*812+404del) c.1477+403_1477+404del (n.1477+403_1477+404del) c.413-958_413-957del (n.413-958_413-957del) c.825+765_825+766del (n.825+765_825+766del) c.1179+403_1179+404del (n.1179+403_1179+404del) c.945+765_945+766del c.*667+403_*667+404del (n.*667+403_*667+404del) n.6550+403_6550+404del n.1574+765_1574+766del n.1115+765_1115+766del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347282_72347290delinsGGTTTTTTT | CA2186744048 | HEXA | c.1073+758_1073+766delinsAAAAAAACC (n.1073+758_1073+766delinsAAAAAAACC) c.*808+396_*808+404delinsAAAAAAACC (n.*808+396_*808+404delinsAAAAAAACC) c.1189+396_1189+404delinsAAAAAAACC (n.1189+396_1189+404delinsAAAAAAACC) c.1252+396_1252+404delinsAAAAAAACC (n.1252+396_1252+404delinsAAAAAAACC) n.1466+396_1466+404delinsAAAAAAACC c.*483+758_*483+766delinsAAAAAAACC (n.*483+758_*483+766delinsAAAAAAACC) c.*949+396_*949+404delinsAAAAAAACC (n.*949+396_*949+404delinsAAAAAAACC) c.*971+758_*971+766delinsAAAAAAACC (n.*971+758_*971+766delinsAAAAAAACC) c.1330+396_1330+404delinsAAAAAAACC (n.1330+396_1330+404delinsAAAAAAACC) n.1573_1581delinsAAAAAAACC c.1074-580_1074-572delinsAAAAAAACC (n.1074-580_1074-572delinsAAAAAAACC) n.1104+758_1104+766delinsAAAAAAACC c.*1044+396_*1044+404delinsAAAAAAACC (n.*1044+396_*1044+404delinsAAAAAAACC) n.1177+396_1177+404delinsAAAAAAACC c.1146+396_1146+404delinsAAAAAAACC (n.1146+396_1146+404delinsAAAAAAACC) n.1373_1381delinsAAAAAAACC n.2912-580_2912-572delinsAAAAAAACC c.*556+396_*556+404delinsAAAAAAACC (n.*556+396_*556+404delinsAAAAAAACC) c.*86+396_*86+404delinsAAAAAAACC (n.*86+396_*86+404delinsAAAAAAACC) c.1594+396_1594+404delinsAAAAAAACC (n.1594+396_1594+404delinsAAAAAAACC) c.*14-580_*14-572delinsAAAAAAACC (n.*14-580_*14-572delinsAAAAAAACC) c.*812+396_*812+404delinsAAAAAAACC (n.*812+396_*812+404delinsAAAAAAACC) c.1477+396_1477+404delinsAAAAAAACC (n.1477+396_1477+404delinsAAAAAAACC) c.413-965_413-957delinsAAAAAAACC (n.413-965_413-957delinsAAAAAAACC) c.825+758_825+766delinsAAAAAAACC (n.825+758_825+766delinsAAAAAAACC) c.1179+396_1179+404delinsAAAAAAACC (n.1179+396_1179+404delinsAAAAAAACC) c.945+758_945+766delinsAAAAAAACC c.*667+396_*667+404delinsAAAAAAACC (n.*667+396_*667+404delinsAAAAAAACC) n.6550+396_6550+404delinsAAAAAAACC n.1574+758_1574+766delinsAAAAAAACC n.1115+758_1115+766delinsAAAAAAACC | |
15 | g.72347283G= | CA2186744050 | HEXA | c.1073+765C= (n.1073+765C=) c.*808+403C= (n.*808+403C=) c.1189+403C= (n.1189+403C=) c.1252+403C= (n.1252+403C=) n.1466+403C= c.*483+765C= (n.*483+765C=) c.*949+403C= (n.*949+403C=) c.*971+765C= (n.*971+765C=) c.1330+403C= (n.1330+403C=) n.1580C= c.1074-573C= (n.1074-573C=) n.1104+765C= c.*1044+403C= (n.*1044+403C=) n.1177+403C= c.1146+403C= (n.1146+403C=) n.1380C= n.2912-573C= c.*556+403C= (n.*556+403C=) c.*86+403C= (n.*86+403C=) c.1594+403C= (n.1594+403C=) c.*14-573C= (n.*14-573C=) c.*812+403C= (n.*812+403C=) c.1477+403C= (n.1477+403C=) c.413-958C= (n.413-958C=) c.825+765C= (n.825+765C=) c.1179+403C= (n.1179+403C=) c.945+765C= c.*667+403C= (n.*667+403C=) n.6550+403C= n.1574+765C= n.1115+765C= | |
15 | g.72347283G>T | CA618766202 | HEXA | c.1073+765C>A (n.1073+765C>A) c.*808+403C>A (n.*808+403C>A) c.1189+403C>A (n.1189+403C>A) c.1252+403C>A (n.1252+403C>A) n.1466+403C>A c.*483+765C>A (n.*483+765C>A) c.*949+403C>A (n.*949+403C>A) c.*971+765C>A (n.*971+765C>A) c.1330+403C>A (n.1330+403C>A) n.1580C>A c.1074-573C>A (n.1074-573C>A) n.1104+765C>A c.*1044+403C>A (n.*1044+403C>A) n.1177+403C>A c.1146+403C>A (n.1146+403C>A) n.1380C>A n.2912-573C>A c.*556+403C>A (n.*556+403C>A) c.*86+403C>A (n.*86+403C>A) c.1594+403C>A (n.1594+403C>A) c.*14-573C>A (n.*14-573C>A) c.*812+403C>A (n.*812+403C>A) c.1477+403C>A (n.1477+403C>A) c.413-958C>A (n.413-958C>A) c.825+765C>A (n.825+765C>A) c.1179+403C>A (n.1179+403C>A) c.945+765C>A c.*667+403C>A (n.*667+403C>A) n.6550+403C>A n.1574+765C>A n.1115+765C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347284_72347291del | CA971330870 | HEXA | c.1073+758_1073+765del (n.1073+758_1073+765del) c.*808+396_*808+403del (n.*808+396_*808+403del) c.1189+396_1189+403del (n.1189+396_1189+403del) c.1252+396_1252+403del (n.1252+396_1252+403del) n.1466+396_1466+403del c.*483+758_*483+765del (n.*483+758_*483+765del) c.*949+396_*949+403del (n.*949+396_*949+403del) c.*971+758_*971+765del (n.*971+758_*971+765del) c.1330+396_1330+403del (n.1330+396_1330+403del) n.1573_1580del c.1074-580_1074-573del (n.1074-580_1074-573del) n.1104+758_1104+765del c.*1044+396_*1044+403del (n.*1044+396_*1044+403del) n.1177+396_1177+403del c.1146+396_1146+403del (n.1146+396_1146+403del) n.1373_1380del n.2912-580_2912-573del c.*556+396_*556+403del (n.*556+396_*556+403del) c.*86+396_*86+403del (n.*86+396_*86+403del) c.1594+396_1594+403del (n.1594+396_1594+403del) c.*14-580_*14-573del (n.*14-580_*14-573del) c.*812+396_*812+403del (n.*812+396_*812+403del) c.1477+396_1477+403del (n.1477+396_1477+403del) c.413-965_413-958del (n.413-965_413-958del) c.825+758_825+765del (n.825+758_825+765del) c.1179+396_1179+403del (n.1179+396_1179+403del) c.945+758_945+765del c.*667+396_*667+403del (n.*667+396_*667+403del) n.6550+396_6550+403del n.1574+758_1574+765del n.1115+758_1115+765del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347290_72347291insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA971330871 | HEXA | c.1073+764_1073+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1073+764_1073+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*808+402_*808+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*808+402_*808+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1189+402_1189+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1189+402_1189+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1252+402_1252+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1252+402_1252+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1466+402_1466+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*949+402_*949+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*949+402_*949+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*971+764_*971+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*971+764_*971+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1330+402_1330+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1330+402_1330+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1579_1580insAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1104+764_1104+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*1044+402_*1044+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*1044+402_*1044+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1177+402_1177+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.1379_1380insAAAAAAAAAAAAAAAAAAAAAAAAAAA n.2912-574_2912-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*556+402_*556+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*556+402_*556+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*86+402_*86+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*86+402_*86+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1594+402_1594+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1594+402_1594+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*14-574_*14-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*14-574_*14-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.*812+402_*812+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*812+402_*812+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1477+402_1477+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1477+402_1477+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.413-959_413-958insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.413-959_413-958insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.825+764_825+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.825+764_825+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.945+764_945+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA c.*667+402_*667+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.*667+402_*667+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA) n.6550+402_6550+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1574+764_1574+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA n.1115+764_1115+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
15 | g.72347290dup | CA715464625 | HEXA | c.1073+764dup (n.1073+764dup) c.*808+402dup (n.*808+402dup) c.1189+402dup (n.1189+402dup) c.1252+402dup (n.1252+402dup) n.1466+402dup c.*483+764dup (n.*483+764dup) c.*949+402dup (n.*949+402dup) c.*971+764dup (n.*971+764dup) c.1330+402dup (n.1330+402dup) n.1579dup c.1074-574dup (n.1074-574dup) n.1104+764dup c.*1044+402dup (n.*1044+402dup) n.1177+402dup c.1146+402dup (n.1146+402dup) n.1379dup n.2912-574dup c.*556+402dup (n.*556+402dup) c.*86+402dup (n.*86+402dup) c.1594+402dup (n.1594+402dup) c.*14-574dup (n.*14-574dup) c.*812+402dup (n.*812+402dup) c.1477+402dup (n.1477+402dup) c.413-959dup (n.413-959dup) c.825+764dup (n.825+764dup) c.1179+402dup (n.1179+402dup) c.945+764dup c.*667+402dup (n.*667+402dup) n.6550+402dup n.1574+764dup n.1115+764dup | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347290del | CA971330872 | HEXA | c.1073+764del (n.1073+764del) c.*808+402del (n.*808+402del) c.1189+402del (n.1189+402del) c.1252+402del (n.1252+402del) n.1466+402del c.*483+764del (n.*483+764del) c.*949+402del (n.*949+402del) c.*971+764del (n.*971+764del) c.1330+402del (n.1330+402del) n.1579del c.1074-574del (n.1074-574del) n.1104+764del c.*1044+402del (n.*1044+402del) n.1177+402del c.1146+402del (n.1146+402del) n.1379del n.2912-574del c.*556+402del (n.*556+402del) c.*86+402del (n.*86+402del) c.1594+402del (n.1594+402del) c.*14-574del (n.*14-574del) c.*812+402del (n.*812+402del) c.1477+402del (n.1477+402del) c.413-959del (n.413-959del) c.825+764del (n.825+764del) c.1179+402del (n.1179+402del) c.945+764del c.*667+402del (n.*667+402del) n.6550+402del n.1574+764del n.1115+764del | gnomAD v3 gnomAD v4 |
15 | g.72347284_72347295del | CA971330873 | HEXA | c.1073+753_1073+764del (n.1073+753_1073+764del) c.*808+391_*808+402del (n.*808+391_*808+402del) c.1189+391_1189+402del (n.1189+391_1189+402del) c.1252+391_1252+402del (n.1252+391_1252+402del) n.1466+391_1466+402del c.*483+753_*483+764del (n.*483+753_*483+764del) c.*949+391_*949+402del (n.*949+391_*949+402del) c.*971+753_*971+764del (n.*971+753_*971+764del) c.1330+391_1330+402del (n.1330+391_1330+402del) n.1568_1579del c.1074-585_1074-574del (n.1074-585_1074-574del) n.1104+753_1104+764del c.*1044+391_*1044+402del (n.*1044+391_*1044+402del) n.1177+391_1177+402del c.1146+391_1146+402del (n.1146+391_1146+402del) n.1368_1379del n.2912-585_2912-574del c.*556+391_*556+402del (n.*556+391_*556+402del) c.*86+391_*86+402del (n.*86+391_*86+402del) c.1594+391_1594+402del (n.1594+391_1594+402del) c.*14-585_*14-574del (n.*14-585_*14-574del) c.*812+391_*812+402del (n.*812+391_*812+402del) c.1477+391_1477+402del (n.1477+391_1477+402del) c.413-970_413-959del (n.413-970_413-959del) c.825+753_825+764del (n.825+753_825+764del) c.1179+391_1179+402del (n.1179+391_1179+402del) c.945+753_945+764del c.*667+391_*667+402del (n.*667+391_*667+402del) n.6550+391_6550+402del n.1574+753_1574+764del n.1115+753_1115+764del | gnomAD v3 gnomAD v4 |
15 | g.72347285T>C | CA971330874 | HEXA | c.1073+763A>G (n.1073+763A>G) c.*808+401A>G (n.*808+401A>G) c.1189+401A>G (n.1189+401A>G) c.1252+401A>G (n.1252+401A>G) n.1466+401A>G c.*483+763A>G (n.*483+763A>G) c.*949+401A>G (n.*949+401A>G) c.*971+763A>G (n.*971+763A>G) c.1330+401A>G (n.1330+401A>G) n.1578A>G c.1074-575A>G (n.1074-575A>G) n.1104+763A>G c.*1044+401A>G (n.*1044+401A>G) n.1177+401A>G c.1146+401A>G (n.1146+401A>G) n.1378A>G n.2912-575A>G c.*556+401A>G (n.*556+401A>G) c.*86+401A>G (n.*86+401A>G) c.1594+401A>G (n.1594+401A>G) c.*14-575A>G (n.*14-575A>G) c.*812+401A>G (n.*812+401A>G) c.1477+401A>G (n.1477+401A>G) c.413-960A>G (n.413-960A>G) c.825+763A>G (n.825+763A>G) c.1179+401A>G (n.1179+401A>G) c.945+763A>G c.*667+401A>G (n.*667+401A>G) n.6550+401A>G n.1574+763A>G n.1115+763A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347285T>G | CA715464628 | HEXA | c.1073+763A>C (n.1073+763A>C) c.*808+401A>C (n.*808+401A>C) c.1189+401A>C (n.1189+401A>C) c.1252+401A>C (n.1252+401A>C) n.1466+401A>C c.*483+763A>C (n.*483+763A>C) c.*949+401A>C (n.*949+401A>C) c.*971+763A>C (n.*971+763A>C) c.1330+401A>C (n.1330+401A>C) n.1578A>C c.1074-575A>C (n.1074-575A>C) n.1104+763A>C c.*1044+401A>C (n.*1044+401A>C) n.1177+401A>C c.1146+401A>C (n.1146+401A>C) n.1378A>C n.2912-575A>C c.*556+401A>C (n.*556+401A>C) c.*86+401A>C (n.*86+401A>C) c.1594+401A>C (n.1594+401A>C) c.*14-575A>C (n.*14-575A>C) c.*812+401A>C (n.*812+401A>C) c.1477+401A>C (n.1477+401A>C) c.413-960A>C (n.413-960A>C) c.825+763A>C (n.825+763A>C) c.1179+401A>C (n.1179+401A>C) c.945+763A>C c.*667+401A>C (n.*667+401A>C) n.6550+401A>C n.1574+763A>C n.1115+763A>C | dbSNP |
15 | g.72347285T= | CA2186744051 | HEXA | c.1073+763A= (n.1073+763A=) c.*808+401A= (n.*808+401A=) c.1189+401A= (n.1189+401A=) c.1252+401A= (n.1252+401A=) n.1466+401A= c.*483+763A= (n.*483+763A=) c.*949+401A= (n.*949+401A=) c.*971+763A= (n.*971+763A=) c.1330+401A= (n.1330+401A=) n.1578A= c.1074-575A= (n.1074-575A=) n.1104+763A= c.*1044+401A= (n.*1044+401A=) n.1177+401A= c.1146+401A= (n.1146+401A=) n.1378A= n.2912-575A= c.*556+401A= (n.*556+401A=) c.*86+401A= (n.*86+401A=) c.1594+401A= (n.1594+401A=) c.*14-575A= (n.*14-575A=) c.*812+401A= (n.*812+401A=) c.1477+401A= (n.1477+401A=) c.413-960A= (n.413-960A=) c.825+763A= (n.825+763A=) c.1179+401A= (n.1179+401A=) c.945+763A= c.*667+401A= (n.*667+401A=) n.6550+401A= n.1574+763A= n.1115+763A= | |
15 | g.72347289T>C | CA715464629 | HEXA | c.1073+759A>G (n.1073+759A>G) c.*808+397A>G (n.*808+397A>G) c.1189+397A>G (n.1189+397A>G) c.1252+397A>G (n.1252+397A>G) n.1466+397A>G c.*483+759A>G (n.*483+759A>G) c.*949+397A>G (n.*949+397A>G) c.*971+759A>G (n.*971+759A>G) c.1330+397A>G (n.1330+397A>G) n.1574A>G c.1074-579A>G (n.1074-579A>G) n.1104+759A>G c.*1044+397A>G (n.*1044+397A>G) n.1177+397A>G c.1146+397A>G (n.1146+397A>G) n.1374A>G n.2912-579A>G c.*556+397A>G (n.*556+397A>G) c.*86+397A>G (n.*86+397A>G) c.1594+397A>G (n.1594+397A>G) c.*14-579A>G (n.*14-579A>G) c.*812+397A>G (n.*812+397A>G) c.1477+397A>G (n.1477+397A>G) c.413-964A>G (n.413-964A>G) c.825+759A>G (n.825+759A>G) c.1179+397A>G (n.1179+397A>G) c.945+759A>G c.*667+397A>G (n.*667+397A>G) n.6550+397A>G n.1574+759A>G n.1115+759A>G | dbSNP |
15 | g.72347289T= | CA2186744052 | HEXA | c.1073+759A= (n.1073+759A=) c.*808+397A= (n.*808+397A=) c.1189+397A= (n.1189+397A=) c.1252+397A= (n.1252+397A=) n.1466+397A= c.*483+759A= (n.*483+759A=) c.*949+397A= (n.*949+397A=) c.*971+759A= (n.*971+759A=) c.1330+397A= (n.1330+397A=) n.1574A= c.1074-579A= (n.1074-579A=) n.1104+759A= c.*1044+397A= (n.*1044+397A=) n.1177+397A= c.1146+397A= (n.1146+397A=) n.1374A= n.2912-579A= c.*556+397A= (n.*556+397A=) c.*86+397A= (n.*86+397A=) c.1594+397A= (n.1594+397A=) c.*14-579A= (n.*14-579A=) c.*812+397A= (n.*812+397A=) c.1477+397A= (n.1477+397A=) c.413-964A= (n.413-964A=) c.825+759A= (n.825+759A=) c.1179+397A= (n.1179+397A=) c.945+759A= c.*667+397A= (n.*667+397A=) n.6550+397A= n.1574+759A= n.1115+759A= | |
15 | g.72347290_72347291insTAATT | CA2731031957 | HEXA | c.1073+759_1073+760insTTAAA (n.1073+759_1073+760insTTAAA) c.*808+397_*808+398insTTAAA (n.*808+397_*808+398insTTAAA) c.1189+397_1189+398insTTAAA (n.1189+397_1189+398insTTAAA) c.1252+397_1252+398insTTAAA (n.1252+397_1252+398insTTAAA) n.1466+397_1466+398insTTAAA c.*483+759_*483+760insTTAAA (n.*483+759_*483+760insTTAAA) c.*949+397_*949+398insTTAAA (n.*949+397_*949+398insTTAAA) c.*971+759_*971+760insTTAAA (n.*971+759_*971+760insTTAAA) c.1330+397_1330+398insTTAAA (n.1330+397_1330+398insTTAAA) n.1574_1575insTTAAA c.1074-579_1074-578insTTAAA (n.1074-579_1074-578insTTAAA) n.1104+759_1104+760insTTAAA c.*1044+397_*1044+398insTTAAA (n.*1044+397_*1044+398insTTAAA) n.1177+397_1177+398insTTAAA c.1146+397_1146+398insTTAAA (n.1146+397_1146+398insTTAAA) n.1374_1375insTTAAA n.2912-579_2912-578insTTAAA c.*556+397_*556+398insTTAAA (n.*556+397_*556+398insTTAAA) c.*86+397_*86+398insTTAAA (n.*86+397_*86+398insTTAAA) c.1594+397_1594+398insTTAAA (n.1594+397_1594+398insTTAAA) c.*14-579_*14-578insTTAAA (n.*14-579_*14-578insTTAAA) c.*812+397_*812+398insTTAAA (n.*812+397_*812+398insTTAAA) c.1477+397_1477+398insTTAAA (n.1477+397_1477+398insTTAAA) c.413-964_413-963insTTAAA (n.413-964_413-963insTTAAA) c.825+759_825+760insTTAAA (n.825+759_825+760insTTAAA) c.1179+397_1179+398insTTAAA (n.1179+397_1179+398insTTAAA) c.945+759_945+760insTTAAA c.*667+397_*667+398insTTAAA (n.*667+397_*667+398insTTAAA) n.6550+397_6550+398insTTAAA n.1574+759_1574+760insTTAAA n.1115+759_1115+760insTTAAA | dbSNP |
15 | g.72347290_72347291insTTGTT | CA2804700086 | HEXA | c.1073+759_1073+760insCAAAA (n.1073+759_1073+760insCAAAA) c.*808+397_*808+398insCAAAA (n.*808+397_*808+398insCAAAA) c.1189+397_1189+398insCAAAA (n.1189+397_1189+398insCAAAA) c.1252+397_1252+398insCAAAA (n.1252+397_1252+398insCAAAA) n.1466+397_1466+398insCAAAA c.*483+759_*483+760insCAAAA (n.*483+759_*483+760insCAAAA) c.*949+397_*949+398insCAAAA (n.*949+397_*949+398insCAAAA) c.*971+759_*971+760insCAAAA (n.*971+759_*971+760insCAAAA) c.1330+397_1330+398insCAAAA (n.1330+397_1330+398insCAAAA) n.1574_1575insCAAAA c.1074-579_1074-578insCAAAA (n.1074-579_1074-578insCAAAA) n.1104+759_1104+760insCAAAA c.*1044+397_*1044+398insCAAAA (n.*1044+397_*1044+398insCAAAA) n.1177+397_1177+398insCAAAA c.1146+397_1146+398insCAAAA (n.1146+397_1146+398insCAAAA) n.1374_1375insCAAAA n.2912-579_2912-578insCAAAA c.*556+397_*556+398insCAAAA (n.*556+397_*556+398insCAAAA) c.*86+397_*86+398insCAAAA (n.*86+397_*86+398insCAAAA) c.1594+397_1594+398insCAAAA (n.1594+397_1594+398insCAAAA) c.*14-579_*14-578insCAAAA (n.*14-579_*14-578insCAAAA) c.*812+397_*812+398insCAAAA (n.*812+397_*812+398insCAAAA) c.1477+397_1477+398insCAAAA (n.1477+397_1477+398insCAAAA) c.413-964_413-963insCAAAA (n.413-964_413-963insCAAAA) c.825+759_825+760insCAAAA (n.825+759_825+760insCAAAA) c.1179+397_1179+398insCAAAA (n.1179+397_1179+398insCAAAA) c.945+759_945+760insCAAAA c.*667+397_*667+398insCAAAA (n.*667+397_*667+398insCAAAA) n.6550+397_6550+398insCAAAA n.1574+759_1574+760insCAAAA n.1115+759_1115+760insCAAAA | |
15 | g.72347291G>C | CA971330876 | HEXA | c.1073+757C>G (n.1073+757C>G) c.*808+395C>G (n.*808+395C>G) c.1189+395C>G (n.1189+395C>G) c.1252+395C>G (n.1252+395C>G) n.1466+395C>G c.*483+757C>G (n.*483+757C>G) c.*949+395C>G (n.*949+395C>G) c.*971+757C>G (n.*971+757C>G) c.1330+395C>G (n.1330+395C>G) n.1572C>G c.1074-581C>G (n.1074-581C>G) n.1104+757C>G c.*1044+395C>G (n.*1044+395C>G) n.1177+395C>G c.1146+395C>G (n.1146+395C>G) n.1372C>G n.2912-581C>G c.*556+395C>G (n.*556+395C>G) c.*86+395C>G (n.*86+395C>G) c.1594+395C>G (n.1594+395C>G) c.*14-581C>G (n.*14-581C>G) c.*812+395C>G (n.*812+395C>G) c.1477+395C>G (n.1477+395C>G) c.413-966C>G (n.413-966C>G) c.825+757C>G (n.825+757C>G) c.1179+395C>G (n.1179+395C>G) c.945+757C>G c.*667+395C>G (n.*667+395C>G) n.6550+395C>G n.1574+757C>G n.1115+757C>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347291G= | CA2186744053 | HEXA | c.1073+757C= (n.1073+757C=) c.*808+395C= (n.*808+395C=) c.1189+395C= (n.1189+395C=) c.1252+395C= (n.1252+395C=) n.1466+395C= c.*483+757C= (n.*483+757C=) c.*949+395C= (n.*949+395C=) c.*971+757C= (n.*971+757C=) c.1330+395C= (n.1330+395C=) n.1572C= c.1074-581C= (n.1074-581C=) n.1104+757C= c.*1044+395C= (n.*1044+395C=) n.1177+395C= c.1146+395C= (n.1146+395C=) n.1372C= n.2912-581C= c.*556+395C= (n.*556+395C=) c.*86+395C= (n.*86+395C=) c.1594+395C= (n.1594+395C=) c.*14-581C= (n.*14-581C=) c.*812+395C= (n.*812+395C=) c.1477+395C= (n.1477+395C=) c.413-966C= (n.413-966C=) c.825+757C= (n.825+757C=) c.1179+395C= (n.1179+395C=) c.945+757C= c.*667+395C= (n.*667+395C=) n.6550+395C= n.1574+757C= n.1115+757C= | |
15 | g.72347291G>T | CA971330875 | HEXA | c.1073+757C>A (n.1073+757C>A) c.*808+395C>A (n.*808+395C>A) c.1189+395C>A (n.1189+395C>A) c.1252+395C>A (n.1252+395C>A) n.1466+395C>A c.*483+757C>A (n.*483+757C>A) c.*949+395C>A (n.*949+395C>A) c.*971+757C>A (n.*971+757C>A) c.1330+395C>A (n.1330+395C>A) n.1572C>A c.1074-581C>A (n.1074-581C>A) n.1104+757C>A c.*1044+395C>A (n.*1044+395C>A) n.1177+395C>A c.1146+395C>A (n.1146+395C>A) n.1372C>A n.2912-581C>A c.*556+395C>A (n.*556+395C>A) c.*86+395C>A (n.*86+395C>A) c.1594+395C>A (n.1594+395C>A) c.*14-581C>A (n.*14-581C>A) c.*812+395C>A (n.*812+395C>A) c.1477+395C>A (n.1477+395C>A) c.413-966C>A (n.413-966C>A) c.825+757C>A (n.825+757C>A) c.1179+395C>A (n.1179+395C>A) c.945+757C>A c.*667+395C>A (n.*667+395C>A) n.6550+395C>A n.1574+757C>A n.1115+757C>A | gnomAD v3 gnomAD v4 |
15 | g.72347291_72347299del | CA971330878 | HEXA | c.1073+749_1073+757del (n.1073+749_1073+757del) c.*808+387_*808+395del (n.*808+387_*808+395del) c.1189+387_1189+395del (n.1189+387_1189+395del) c.1252+387_1252+395del (n.1252+387_1252+395del) n.1466+387_1466+395del c.*483+749_*483+757del (n.*483+749_*483+757del) c.*949+387_*949+395del (n.*949+387_*949+395del) c.*971+749_*971+757del (n.*971+749_*971+757del) c.1330+387_1330+395del (n.1330+387_1330+395del) n.1564_1572del c.1074-589_1074-581del (n.1074-589_1074-581del) n.1104+749_1104+757del c.*1044+387_*1044+395del (n.*1044+387_*1044+395del) n.1177+387_1177+395del c.1146+387_1146+395del (n.1146+387_1146+395del) n.1364_1372del n.2912-589_2912-581del c.*556+387_*556+395del (n.*556+387_*556+395del) c.*86+387_*86+395del (n.*86+387_*86+395del) c.1594+387_1594+395del (n.1594+387_1594+395del) c.*14-589_*14-581del (n.*14-589_*14-581del) c.*812+387_*812+395del (n.*812+387_*812+395del) c.1477+387_1477+395del (n.1477+387_1477+395del) c.413-974_413-966del (n.413-974_413-966del) c.825+749_825+757del (n.825+749_825+757del) c.1179+387_1179+395del (n.1179+387_1179+395del) c.945+749_945+757del c.*667+387_*667+395del (n.*667+387_*667+395del) n.6550+387_6550+395del n.1574+749_1574+757del n.1115+749_1115+757del | gnomAD v3 gnomAD v4 |
15 | g.72347291_72347305del | CA971330877 | HEXA | c.1073+743_1073+757del (n.1073+743_1073+757del) c.*808+381_*808+395del (n.*808+381_*808+395del) c.1189+381_1189+395del (n.1189+381_1189+395del) c.1252+381_1252+395del (n.1252+381_1252+395del) n.1466+381_1466+395del c.*483+743_*483+757del (n.*483+743_*483+757del) c.*949+381_*949+395del (n.*949+381_*949+395del) c.*971+743_*971+757del (n.*971+743_*971+757del) c.1330+381_1330+395del (n.1330+381_1330+395del) n.1558_1572del c.1074-595_1074-581del (n.1074-595_1074-581del) n.1104+743_1104+757del c.*1044+381_*1044+395del (n.*1044+381_*1044+395del) n.1177+381_1177+395del c.1146+381_1146+395del (n.1146+381_1146+395del) n.1358_1372del n.2912-595_2912-581del c.*556+381_*556+395del (n.*556+381_*556+395del) c.*86+381_*86+395del (n.*86+381_*86+395del) c.1594+381_1594+395del (n.1594+381_1594+395del) c.*14-595_*14-581del (n.*14-595_*14-581del) c.*812+381_*812+395del (n.*812+381_*812+395del) c.1477+381_1477+395del (n.1477+381_1477+395del) c.413-980_413-966del (n.413-980_413-966del) c.825+743_825+757del (n.825+743_825+757del) c.1179+381_1179+395del (n.1179+381_1179+395del) c.945+743_945+757del c.*667+381_*667+395del (n.*667+381_*667+395del) n.6550+381_6550+395del n.1574+743_1574+757del n.1115+743_1115+757del | gnomAD v3 gnomAD v4 |
15 | g.72347291_72347398del | CA914025669 | HEXA | c.1073+650_1073+757del (n.1073+650_1073+757del) c.*808+288_*808+395del (n.*808+288_*808+395del) c.1189+288_1189+395del (n.1189+288_1189+395del) c.1252+288_1252+395del (n.1252+288_1252+395del) n.1466+288_1466+395del c.*483+650_*483+757del (n.*483+650_*483+757del) c.*949+288_*949+395del (n.*949+288_*949+395del) c.*971+650_*971+757del (n.*971+650_*971+757del) c.1330+288_1330+395del (n.1330+288_1330+395del) n.1465_1572del c.1073+650_1074-581del (n.1073+650_1074-581del) n.1104+650_1104+757del c.*1044+288_*1044+395del (n.*1044+288_*1044+395del) n.1177+288_1177+395del c.1146+288_1146+395del (n.1146+288_1146+395del) n.1265_1372del n.2911+650_2912-581del c.*556+288_*556+395del (n.*556+288_*556+395del) c.*86+288_*86+395del (n.*86+288_*86+395del) c.1594+288_1594+395del (n.1594+288_1594+395del) c.*13+633_*14-581del (n.*13+633_*14-581del) c.*812+288_*812+395del (n.*812+288_*812+395del) c.1477+288_1477+395del (n.1477+288_1477+395del) c.413-1073_413-966del (n.413-1073_413-966del) c.825+650_825+757del (n.825+650_825+757del) c.1179+288_1179+395del (n.1179+288_1179+395del) c.945+650_945+757del c.*667+288_*667+395del (n.*667+288_*667+395del) n.6550+288_6550+395del n.1574+650_1574+757del n.1115+650_1115+757del | gnomAD v2 |
15 | g.72347293G>T | CA2560909227 | HEXA | c.1073+755C>A (n.1073+755C>A) c.*808+393C>A (n.*808+393C>A) c.1189+393C>A (n.1189+393C>A) c.1252+393C>A (n.1252+393C>A) n.1466+393C>A c.*483+755C>A (n.*483+755C>A) c.*949+393C>A (n.*949+393C>A) c.*971+755C>A (n.*971+755C>A) c.1330+393C>A (n.1330+393C>A) n.1570C>A c.1074-583C>A (n.1074-583C>A) n.1104+755C>A c.*1044+393C>A (n.*1044+393C>A) n.1177+393C>A c.1146+393C>A (n.1146+393C>A) n.1370C>A n.2912-583C>A c.*556+393C>A (n.*556+393C>A) c.*86+393C>A (n.*86+393C>A) c.1594+393C>A (n.1594+393C>A) c.*14-583C>A (n.*14-583C>A) c.*812+393C>A (n.*812+393C>A) c.1477+393C>A (n.1477+393C>A) c.413-968C>A (n.413-968C>A) c.825+755C>A (n.825+755C>A) c.1179+393C>A (n.1179+393C>A) c.945+755C>A c.*667+393C>A (n.*667+393C>A) n.6550+393C>A n.1574+755C>A n.1115+755C>A | |
15 | g.72347293_72347294del | CA2542686473 | HEXA | c.1073+754_1073+755del (n.1073+754_1073+755del) c.*808+392_*808+393del (n.*808+392_*808+393del) c.1189+392_1189+393del (n.1189+392_1189+393del) c.1252+392_1252+393del (n.1252+392_1252+393del) n.1466+392_1466+393del c.*483+754_*483+755del (n.*483+754_*483+755del) c.*949+392_*949+393del (n.*949+392_*949+393del) c.*971+754_*971+755del (n.*971+754_*971+755del) c.1330+392_1330+393del (n.1330+392_1330+393del) n.1569_1570del c.1074-584_1074-583del (n.1074-584_1074-583del) n.1104+754_1104+755del c.*1044+392_*1044+393del (n.*1044+392_*1044+393del) n.1177+392_1177+393del c.1146+392_1146+393del (n.1146+392_1146+393del) n.1369_1370del n.2912-584_2912-583del c.*556+392_*556+393del (n.*556+392_*556+393del) c.*86+392_*86+393del (n.*86+392_*86+393del) c.1594+392_1594+393del (n.1594+392_1594+393del) c.*14-584_*14-583del (n.*14-584_*14-583del) c.*812+392_*812+393del (n.*812+392_*812+393del) c.1477+392_1477+393del (n.1477+392_1477+393del) c.413-969_413-968del (n.413-969_413-968del) c.825+754_825+755del (n.825+754_825+755del) c.1179+392_1179+393del (n.1179+392_1179+393del) c.945+754_945+755del c.*667+392_*667+393del (n.*667+392_*667+393del) n.6550+392_6550+393del n.1574+754_1574+755del n.1115+754_1115+755del | |
15 | g.72347293_72347294insT | CA971330880 | HEXA | c.1073+754_1073+755insA (n.1073+754_1073+755insA) c.*808+392_*808+393insA (n.*808+392_*808+393insA) c.1189+392_1189+393insA (n.1189+392_1189+393insA) c.1252+392_1252+393insA (n.1252+392_1252+393insA) n.1466+392_1466+393insA c.*483+754_*483+755insA (n.*483+754_*483+755insA) c.*949+392_*949+393insA (n.*949+392_*949+393insA) c.*971+754_*971+755insA (n.*971+754_*971+755insA) c.1330+392_1330+393insA (n.1330+392_1330+393insA) n.1569_1570insA c.1074-584_1074-583insA (n.1074-584_1074-583insA) n.1104+754_1104+755insA c.*1044+392_*1044+393insA (n.*1044+392_*1044+393insA) n.1177+392_1177+393insA c.1146+392_1146+393insA (n.1146+392_1146+393insA) n.1369_1370insA n.2912-584_2912-583insA c.*556+392_*556+393insA (n.*556+392_*556+393insA) c.*86+392_*86+393insA (n.*86+392_*86+393insA) c.1594+392_1594+393insA (n.1594+392_1594+393insA) c.*14-584_*14-583insA (n.*14-584_*14-583insA) c.*812+392_*812+393insA (n.*812+392_*812+393insA) c.1477+392_1477+393insA (n.1477+392_1477+393insA) c.413-969_413-968insA (n.413-969_413-968insA) c.825+754_825+755insA (n.825+754_825+755insA) c.1179+392_1179+393insA (n.1179+392_1179+393insA) c.945+754_945+755insA c.*667+392_*667+393insA (n.*667+392_*667+393insA) n.6550+392_6550+393insA n.1574+754_1574+755insA n.1115+754_1115+755insA | gnomAD v3 gnomAD v4 |
15 | g.72347293_72347294insAC | CA971330879 | HEXA | c.1073+754_1073+755insGT (n.1073+754_1073+755insGT) c.*808+392_*808+393insGT (n.*808+392_*808+393insGT) c.1189+392_1189+393insGT (n.1189+392_1189+393insGT) c.1252+392_1252+393insGT (n.1252+392_1252+393insGT) n.1466+392_1466+393insGT c.*483+754_*483+755insGT (n.*483+754_*483+755insGT) c.*949+392_*949+393insGT (n.*949+392_*949+393insGT) c.*971+754_*971+755insGT (n.*971+754_*971+755insGT) c.1330+392_1330+393insGT (n.1330+392_1330+393insGT) n.1569_1570insGT c.1074-584_1074-583insGT (n.1074-584_1074-583insGT) n.1104+754_1104+755insGT c.*1044+392_*1044+393insGT (n.*1044+392_*1044+393insGT) n.1177+392_1177+393insGT c.1146+392_1146+393insGT (n.1146+392_1146+393insGT) n.1369_1370insGT n.2912-584_2912-583insGT c.*556+392_*556+393insGT (n.*556+392_*556+393insGT) c.*86+392_*86+393insGT (n.*86+392_*86+393insGT) c.1594+392_1594+393insGT (n.1594+392_1594+393insGT) c.*14-584_*14-583insGT (n.*14-584_*14-583insGT) c.*812+392_*812+393insGT (n.*812+392_*812+393insGT) c.1477+392_1477+393insGT (n.1477+392_1477+393insGT) c.413-969_413-968insGT (n.413-969_413-968insGT) c.825+754_825+755insGT (n.825+754_825+755insGT) c.1179+392_1179+393insGT (n.1179+392_1179+393insGT) c.945+754_945+755insGT c.*667+392_*667+393insGT (n.*667+392_*667+393insGT) n.6550+392_6550+393insGT n.1574+754_1574+755insGT n.1115+754_1115+755insGT | gnomAD v3 gnomAD v4 |
15 | g.72347294G>A | CA272610628 | HEXA | c.1073+754C>T (n.1073+754C>T) c.*808+392C>T (n.*808+392C>T) c.1189+392C>T (n.1189+392C>T) c.1252+392C>T (n.1252+392C>T) n.1466+392C>T c.*483+754C>T (n.*483+754C>T) c.*949+392C>T (n.*949+392C>T) c.*971+754C>T (n.*971+754C>T) c.1330+392C>T (n.1330+392C>T) n.1569C>T c.1074-584C>T (n.1074-584C>T) n.1104+754C>T c.*1044+392C>T (n.*1044+392C>T) n.1177+392C>T c.1146+392C>T (n.1146+392C>T) n.1369C>T n.2912-584C>T c.*556+392C>T (n.*556+392C>T) c.*86+392C>T (n.*86+392C>T) c.1594+392C>T (n.1594+392C>T) c.*14-584C>T (n.*14-584C>T) c.*812+392C>T (n.*812+392C>T) c.1477+392C>T (n.1477+392C>T) c.413-969C>T (n.413-969C>T) c.825+754C>T (n.825+754C>T) c.1179+392C>T (n.1179+392C>T) c.945+754C>T c.*667+392C>T (n.*667+392C>T) n.6550+392C>T n.1574+754C>T n.1115+754C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.72347294G= | CA2186744054 | HEXA | c.1073+754C= (n.1073+754C=) c.*808+392C= (n.*808+392C=) c.1189+392C= (n.1189+392C=) c.1252+392C= (n.1252+392C=) n.1466+392C= c.*483+754C= (n.*483+754C=) c.*949+392C= (n.*949+392C=) c.*971+754C= (n.*971+754C=) c.1330+392C= (n.1330+392C=) n.1569C= c.1074-584C= (n.1074-584C=) n.1104+754C= c.*1044+392C= (n.*1044+392C=) n.1177+392C= c.1146+392C= (n.1146+392C=) n.1369C= n.2912-584C= c.*556+392C= (n.*556+392C=) c.*86+392C= (n.*86+392C=) c.1594+392C= (n.1594+392C=) c.*14-584C= (n.*14-584C=) c.*812+392C= (n.*812+392C=) c.1477+392C= (n.1477+392C=) c.413-969C= (n.413-969C=) c.825+754C= (n.825+754C=) c.1179+392C= (n.1179+392C=) c.945+754C= c.*667+392C= (n.*667+392C=) n.6550+392C= n.1574+754C= n.1115+754C= | |
15 | g.72347294G>T | CA971330881 | HEXA | c.1073+754C>A (n.1073+754C>A) c.*808+392C>A (n.*808+392C>A) c.1189+392C>A (n.1189+392C>A) c.1252+392C>A (n.1252+392C>A) n.1466+392C>A c.*483+754C>A (n.*483+754C>A) c.*949+392C>A (n.*949+392C>A) c.*971+754C>A (n.*971+754C>A) c.1330+392C>A (n.1330+392C>A) n.1569C>A c.1074-584C>A (n.1074-584C>A) n.1104+754C>A c.*1044+392C>A (n.*1044+392C>A) n.1177+392C>A c.1146+392C>A (n.1146+392C>A) n.1369C>A n.2912-584C>A c.*556+392C>A (n.*556+392C>A) c.*86+392C>A (n.*86+392C>A) c.1594+392C>A (n.1594+392C>A) c.*14-584C>A (n.*14-584C>A) c.*812+392C>A (n.*812+392C>A) c.1477+392C>A (n.1477+392C>A) c.413-969C>A (n.413-969C>A) c.825+754C>A (n.825+754C>A) c.1179+392C>A (n.1179+392C>A) c.945+754C>A c.*667+392C>A (n.*667+392C>A) n.6550+392C>A n.1574+754C>A n.1115+754C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.72347295C>G | CA971330882 | HEXA | c.1073+753G>C (n.1073+753G>C) c.*808+391G>C (n.*808+391G>C) c.1189+391G>C (n.1189+391G>C) c.1252+391G>C (n.1252+391G>C) n.1466+391G>C c.*483+753G>C (n.*483+753G>C) c.*949+391G>C (n.*949+391G>C) c.*971+753G>C (n.*971+753G>C) c.1330+391G>C (n.1330+391G>C) n.1568G>C c.1074-585G>C (n.1074-585G>C) n.1104+753G>C c.*1044+391G>C (n.*1044+391G>C) n.1177+391G>C c.1146+391G>C (n.1146+391G>C) n.1368G>C n.2912-585G>C c.*556+391G>C (n.*556+391G>C) c.*86+391G>C (n.*86+391G>C) c.1594+391G>C (n.1594+391G>C) c.*14-585G>C (n.*14-585G>C) c.*812+391G>C (n.*812+391G>C) c.1477+391G>C (n.1477+391G>C) c.413-970G>C (n.413-970G>C) c.825+753G>C (n.825+753G>C) c.1179+391G>C (n.1179+391G>C) c.945+753G>C c.*667+391G>C (n.*667+391G>C) n.6550+391G>C n.1574+753G>C n.1115+753G>C | gnomAD v3 gnomAD v4 |
15 | g.72347296A= | CA2186744055 | HEXA | c.1073+752T= (n.1073+752T=) c.*808+390T= (n.*808+390T=) c.1189+390T= (n.1189+390T=) c.1252+390T= (n.1252+390T=) n.1466+390T= c.*483+752T= (n.*483+752T=) c.*949+390T= (n.*949+390T=) c.*971+752T= (n.*971+752T=) c.1330+390T= (n.1330+390T=) n.1567T= c.1074-586T= (n.1074-586T=) n.1104+752T= c.*1044+390T= (n.*1044+390T=) n.1177+390T= c.1146+390T= (n.1146+390T=) n.1367T= n.2912-586T= c.*556+390T= (n.*556+390T=) c.*86+390T= (n.*86+390T=) c.1594+390T= (n.1594+390T=) c.*14-586T= (n.*14-586T=) c.*812+390T= (n.*812+390T=) c.1477+390T= (n.1477+390T=) c.413-971T= (n.413-971T=) c.825+752T= (n.825+752T=) c.1179+390T= (n.1179+390T=) c.945+752T= c.*667+390T= (n.*667+390T=) n.6550+390T= n.1574+752T= n.1115+752T= | |
15 | g.72347296A>G | CA618766205 | HEXA | c.1073+752T>C (n.1073+752T>C) c.*808+390T>C (n.*808+390T>C) c.1189+390T>C (n.1189+390T>C) c.1252+390T>C (n.1252+390T>C) n.1466+390T>C c.*483+752T>C (n.*483+752T>C) c.*949+390T>C (n.*949+390T>C) c.*971+752T>C (n.*971+752T>C) c.1330+390T>C (n.1330+390T>C) n.1567T>C c.1074-586T>C (n.1074-586T>C) n.1104+752T>C c.*1044+390T>C (n.*1044+390T>C) n.1177+390T>C c.1146+390T>C (n.1146+390T>C) n.1367T>C n.2912-586T>C c.*556+390T>C (n.*556+390T>C) c.*86+390T>C (n.*86+390T>C) c.1594+390T>C (n.1594+390T>C) c.*14-586T>C (n.*14-586T>C) c.*812+390T>C (n.*812+390T>C) c.1477+390T>C (n.1477+390T>C) c.413-971T>C (n.413-971T>C) c.825+752T>C (n.825+752T>C) c.1179+390T>C (n.1179+390T>C) c.945+752T>C c.*667+390T>C (n.*667+390T>C) n.6550+390T>C n.1574+752T>C n.1115+752T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |