| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.74068666G>A | CA160114754 | ELN | c.2327G>A (p.Cys776Tyr) c.2141G>A (p.Cys714Tyr) c.2240G>A (p.Cys747Tyr) c.1898G>A (p.Cys633Tyr) c.2102G>A (p.Cys701Tyr) c.1679G>A (p.Cys560Tyr) c.2159G>A (p.Cys720Tyr) c.2000G>A (p.Cys667Tyr) c.2084G>A (p.Cys695Tyr) c.1943G>A (p.Cys648Tyr) c.2069G>A (p.Cys690Tyr) c.2045G>A (p.Cys682Tyr) c.2087G>A (p.Cys696Tyr) c.2111G>A (p.Cys704Tyr) c.1820G>A (p.Cys607Tyr) c.2105G>A (p.Cys702Tyr) c.2099G>A (p.Cys700Tyr) c.2156G>A (p.Cys719Tyr) c.2126G>A (p.Cys709Tyr) c.2120G>A (p.Cys707Tyr) c.2114G>A (p.Cys705Tyr) c.2090G>A (p.Cys697Tyr) c.2075G>A (p.Cys692Tyr) c.2057G>A (p.Cys686Tyr) | dbSNP |
| 7 | g.74068666G>C | CA367891982 | ELN | c.2327G>C (p.Cys776Ser) c.2141G>C (p.Cys714Ser) c.2240G>C (p.Cys747Ser) c.1898G>C (p.Cys633Ser) c.2102G>C (p.Cys701Ser) c.1679G>C (p.Cys560Ser) c.2159G>C (p.Cys720Ser) c.2000G>C (p.Cys667Ser) c.2084G>C (p.Cys695Ser) c.1943G>C (p.Cys648Ser) c.2069G>C (p.Cys690Ser) c.2045G>C (p.Cys682Ser) c.2087G>C (p.Cys696Ser) c.2111G>C (p.Cys704Ser) c.1820G>C (p.Cys607Ser) c.2105G>C (p.Cys702Ser) c.2099G>C (p.Cys700Ser) c.2156G>C (p.Cys719Ser) c.2126G>C (p.Cys709Ser) c.2120G>C (p.Cys707Ser) c.2114G>C (p.Cys705Ser) c.2090G>C (p.Cys697Ser) c.2075G>C (p.Cys692Ser) c.2057G>C (p.Cys686Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.74068666G>T | CA367891983 | ELN | c.2327G>T (p.Cys776Phe) c.2141G>T (p.Cys714Phe) c.2240G>T (p.Cys747Phe) c.1898G>T (p.Cys633Phe) c.2102G>T (p.Cys701Phe) c.1679G>T (p.Cys560Phe) c.2159G>T (p.Cys720Phe) c.2000G>T (p.Cys667Phe) c.2084G>T (p.Cys695Phe) c.1943G>T (p.Cys648Phe) c.2069G>T (p.Cys690Phe) c.2045G>T (p.Cys682Phe) c.2087G>T (p.Cys696Phe) c.2111G>T (p.Cys704Phe) c.1820G>T (p.Cys607Phe) c.2105G>T (p.Cys702Phe) c.2099G>T (p.Cys700Phe) c.2156G>T (p.Cys719Phe) c.2126G>T (p.Cys709Phe) c.2120G>T (p.Cys707Phe) c.2114G>T (p.Cys705Phe) c.2090G>T (p.Cys697Phe) c.2075G>T (p.Cys692Phe) c.2057G>T (p.Cys686Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |