Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73610828A= | CA1261040956 | ALMS1 | c.3933+1146A= | |
2 | g.73610828A>C | CA2581779441 | ALMS1 | c.3933+1146A>C | |
2 | g.73610828A>G | CA50344495 | ALMS1 | c.3933+1146A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73610828A>T | CA2581779442 | ALMS1 | c.3933+1146A>T | |
2 | g.73610829C= | CA1261040957 | ALMS1 | c.3933+1147C= | |
2 | g.73610829C>G | CA1261040958 | ALMS1 | c.3933+1147C>G | dbSNP |
2 | g.73610830A>G | CA2659622525 | ALMS1 | c.3933+1148A>G | gnomAD v4 |
2 | g.73610831A= | CA1261040959 | ALMS1 | c.3933+1149A= | |
2 | g.73610831A>C | CA1261040960 | ALMS1 | c.3933+1149A>C | dbSNP |
2 | g.73610835G>A | CA2570236490 | ALMS1 | c.3933+1153G>A | |
2 | g.73610835G>T | CA2659622526 | ALMS1 | c.3933+1153G>T | gnomAD v4 |
2 | g.73610840C= | CA1261040961 | ALMS1 | c.3933+1158C= | |
2 | g.73610840C>G | CA50344496 | ALMS1 | c.3933+1158C>G | dbSNP |
2 | g.73610841T>C | CA2659622527 | ALMS1 | c.3933+1159T>C | gnomAD v4 |
2 | g.73610842C>A | CA2519194144 | ALMS1 | c.3933+1160C>A | |
2 | g.73610845A>G | CA2750470315 | ALMS1 | c.3933+1163A>G | |
2 | g.73610846C>A | CA2659622528 | ALMS1 | c.3933+1164C>A | gnomAD v4 |
2 | g.73610848T>C | CA2659622529 | ALMS1 | c.3933+1166T>C | gnomAD v4 |
2 | g.73610849G>T | CA2516782737 | ALMS1 | c.3933+1167G>T | gnomAD v4 |
2 | g.73610850G>A | CA50344500 | ALMS1 | c.3933+1168G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73610850G= | CA1261040962 | ALMS1 | c.3933+1168G= | |
2 | g.73610850G>T | CA2659622530 | ALMS1 | c.3933+1168G>T | gnomAD v4 |
2 | g.73610851G>T | CA2659622531 | ALMS1 | c.3933+1169G>T | gnomAD v4 |
2 | g.73610852T>C | CA1261040964 | ALMS1 | c.3933+1170T>C | dbSNP |
2 | g.73610852T= | CA1261040963 | ALMS1 | c.3933+1170T= | |
2 | g.73610853C>A | CA2659622532 | ALMS1 | c.3933+1171C>A | gnomAD v4 |
2 | g.73610853C= | CA1261040965 | ALMS1 | c.3933+1171C= | |
2 | g.73610853C>T | CA50344505 | ALMS1 | c.3933+1171C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73610854T>C | CA2659622533 | ALMS1 | c.3933+1172T>C | gnomAD v4 |
2 | g.73610855G>A | CA2659622534 | ALMS1 | c.3933+1173G>A | gnomAD v4 |
2 | g.73610855G>C | CA1261040967 | ALMS1 | c.3933+1173G>C | dbSNP |
2 | g.73610855G= | CA1261040966 | ALMS1 | c.3933+1173G= | |
2 | g.73610855G>T | CA2659622535 | ALMS1 | c.3933+1173G>T | gnomAD v4 |
2 | g.73610856C>A | CA2659622536 | ALMS1 | c.3933+1174C>A | gnomAD v4 |
2 | g.73610857A= | CA1261040968 | ALMS1 | c.3933+1175A= | |
2 | g.73610857A>G | CA533679457 | ALMS1 | c.3933+1175A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73610858A>G | CA2659622537 | ALMS1 | c.3933+1176A>G | gnomAD v4 |
2 | g.73610860G>A | CA1032229342 | ALMS1 | c.3933+1178G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73610860G= | CA1261040969 | ALMS1 | c.3933+1178G= | |
2 | g.73610862A>T | CA2659622538 | ALMS1 | c.3933+1180A>T | gnomAD v4 |
2 | g.73610863C= | CA1261040970 | ALMS1 | c.3933+1181C= | |
2 | g.73610863C>T | CA50344506 | ALMS1 | c.3933+1181C>T | dbSNP |
2 | g.73610864C>A | CA2659622539 | ALMS1 | c.3933+1182C>A | gnomAD v4 |
2 | g.73610864C>T | CA2659622540 | ALMS1 | c.3933+1182C>T | gnomAD v4 |
2 | g.73610865C= | CA1261040971 | ALMS1 | c.3933+1183C= | |
2 | g.73610865C>T | CA1261040972 | ALMS1 | c.3933+1183C>T | dbSNP gnomAD v4 |
2 | g.73610869G>A | CA2659622541 | ALMS1 | c.3933+1187G>A | gnomAD v4 |
2 | g.73610870C>T | CA2659622542 | ALMS1 | c.3933+1188C>T | gnomAD v4 |
2 | g.73610871A= | CA1261040973 | ALMS1 | c.3933+1189A= | |
2 | g.73610871A>C | CA892849286 | ALMS1 | c.3933+1189A>C | dbSNP |