UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891679_25891681delinsAGT | CA2383551579 | APP | n.2178+41_2178+43delinsACT n.608+41_608+43delinsACT n.877+41_877+43delinsACT c.2211+41_2211+43delinsACT (n.2211+41_2211+43delinsACT) c.1986+41_1986+43delinsACT (n.1986+41_1986+43delinsACT) c.1818+41_1818+43delinsACT (n.1818+41_1818+43delinsACT) c.2154+41_2154+43delinsACT (n.2154+41_2154+43delinsACT) c.2157+41_2157+43delinsACT (n.2157+41_2157+43delinsACT) c.1881+41_1881+43delinsACT (n.1881+41_1881+43delinsACT) c.2043+41_2043+43delinsACT (n.2043+41_2043+43delinsACT) c.2139+41_2139+43delinsACT (n.2139+41_2139+43delinsACT) n.558+41_558+43delinsACT c.2100+41_2100+43delinsACT (n.2100+41_2100+43delinsACT) c.1932+41_1932+43delinsACT (n.1932+41_1932+43delinsACT) | |
| 21 | g.25891680_25891681del | CA1021421475 | APP | n.2178+41_2178+42del n.608+41_608+42del n.877+41_877+42del c.2211+41_2211+42del (n.2211+41_2211+42del) c.1986+41_1986+42del (n.1986+41_1986+42del) c.1818+41_1818+42del (n.1818+41_1818+42del) c.2154+41_2154+42del (n.2154+41_2154+42del) c.2157+41_2157+42del (n.2157+41_2157+42del) c.1881+41_1881+42del (n.1881+41_1881+42del) c.2043+41_2043+42del (n.2043+41_2043+42del) c.2139+41_2139+42del (n.2139+41_2139+42del) n.558+41_558+42del c.2100+41_2100+42del (n.2100+41_2100+42del) c.1932+41_1932+42del (n.1932+41_1932+42del) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25891684T>C | CA2654122377 | APP | n.2178+38A>G n.608+38A>G n.877+38A>G c.2211+38A>G (n.2211+38A>G) c.1986+38A>G (n.1986+38A>G) c.1818+38A>G (n.1818+38A>G) c.2154+38A>G (n.2154+38A>G) c.2157+38A>G (n.2157+38A>G) c.1881+38A>G (n.1881+38A>G) c.2043+38A>G (n.2043+38A>G) c.2139+38A>G (n.2139+38A>G) n.558+38A>G c.2100+38A>G (n.2100+38A>G) c.1932+38A>G (n.1932+38A>G) | gnomAD v4 |
| 21 | g.25891684T>G | CA9987040 | APP | n.2178+38A>C n.608+38A>C n.877+38A>C c.2211+38A>C (n.2211+38A>C) c.1986+38A>C (n.1986+38A>C) c.1818+38A>C (n.1818+38A>C) c.2154+38A>C (n.2154+38A>C) c.2157+38A>C (n.2157+38A>C) c.1881+38A>C (n.1881+38A>C) c.2043+38A>C (n.2043+38A>C) c.2139+38A>C (n.2139+38A>C) n.558+38A>C c.2100+38A>C (n.2100+38A>C) c.1932+38A>C (n.1932+38A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891684T= | CA2383551580 | APP | n.2178+38A= n.608+38A= n.877+38A= c.2211+38A= (n.2211+38A=) c.1986+38A= (n.1986+38A=) c.1818+38A= (n.1818+38A=) c.2154+38A= (n.2154+38A=) c.2157+38A= (n.2157+38A=) c.1881+38A= (n.1881+38A=) c.2043+38A= (n.2043+38A=) c.2139+38A= (n.2139+38A=) n.558+38A= c.2100+38A= (n.2100+38A=) c.1932+38A= (n.1932+38A=) | |
| 21 | g.25891685A>C | CA2654122380 | APP | n.2178+37T>G n.608+37T>G n.877+37T>G c.2211+37T>G (n.2211+37T>G) c.1986+37T>G (n.1986+37T>G) c.1818+37T>G (n.1818+37T>G) c.2154+37T>G (n.2154+37T>G) c.2157+37T>G (n.2157+37T>G) c.1881+37T>G (n.1881+37T>G) c.2043+37T>G (n.2043+37T>G) c.2139+37T>G (n.2139+37T>G) n.558+37T>G c.2100+37T>G (n.2100+37T>G) c.1932+37T>G (n.1932+37T>G) | gnomAD v4 |
| 21 | g.25891686A>T | CA2654122381 | APP | n.2178+36T>A n.608+36T>A n.877+36T>A c.2211+36T>A (n.2211+36T>A) c.1986+36T>A (n.1986+36T>A) c.1818+36T>A (n.1818+36T>A) c.2154+36T>A (n.2154+36T>A) c.2157+36T>A (n.2157+36T>A) c.1881+36T>A (n.1881+36T>A) c.2043+36T>A (n.2043+36T>A) c.2139+36T>A (n.2139+36T>A) n.558+36T>A c.2100+36T>A (n.2100+36T>A) c.1932+36T>A (n.1932+36T>A) | gnomAD v4 |
| 21 | g.25891687T>C | CA637162689 | APP | n.2178+35A>G n.608+35A>G n.877+35A>G c.2211+35A>G (n.2211+35A>G) c.1986+35A>G (n.1986+35A>G) c.1818+35A>G (n.1818+35A>G) c.2154+35A>G (n.2154+35A>G) c.2157+35A>G (n.2157+35A>G) c.1881+35A>G (n.1881+35A>G) c.2043+35A>G (n.2043+35A>G) c.2139+35A>G (n.2139+35A>G) n.558+35A>G c.2100+35A>G (n.2100+35A>G) c.1932+35A>G (n.1932+35A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891687T>G | CA2654122382 | APP | n.2178+35A>C n.608+35A>C n.877+35A>C c.2211+35A>C (n.2211+35A>C) c.1986+35A>C (n.1986+35A>C) c.1818+35A>C (n.1818+35A>C) c.2154+35A>C (n.2154+35A>C) c.2157+35A>C (n.2157+35A>C) c.1881+35A>C (n.1881+35A>C) c.2043+35A>C (n.2043+35A>C) c.2139+35A>C (n.2139+35A>C) n.558+35A>C c.2100+35A>C (n.2100+35A>C) c.1932+35A>C (n.1932+35A>C) | gnomAD v4 |
| 21 | g.25891687T= | CA2383551581 | APP | n.2178+35A= n.608+35A= n.877+35A= c.2211+35A= (n.2211+35A=) c.1986+35A= (n.1986+35A=) c.1818+35A= (n.1818+35A=) c.2154+35A= (n.2154+35A=) c.2157+35A= (n.2157+35A=) c.1881+35A= (n.1881+35A=) c.2043+35A= (n.2043+35A=) c.2139+35A= (n.2139+35A=) n.558+35A= c.2100+35A= (n.2100+35A=) c.1932+35A= (n.1932+35A=) | |
| 21 | g.25891688T>C | CA637162690 | APP | n.2178+34A>G n.608+34A>G n.877+34A>G c.2211+34A>G (n.2211+34A>G) c.1986+34A>G (n.1986+34A>G) c.1818+34A>G (n.1818+34A>G) c.2154+34A>G (n.2154+34A>G) c.2157+34A>G (n.2157+34A>G) c.1881+34A>G (n.1881+34A>G) c.2043+34A>G (n.2043+34A>G) c.2139+34A>G (n.2139+34A>G) n.558+34A>G c.2100+34A>G (n.2100+34A>G) c.1932+34A>G (n.1932+34A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25891688T= | CA2383551582 | APP | n.2178+34A= n.608+34A= n.877+34A= c.2211+34A= (n.2211+34A=) c.1986+34A= (n.1986+34A=) c.1818+34A= (n.1818+34A=) c.2154+34A= (n.2154+34A=) c.2157+34A= (n.2157+34A=) c.1881+34A= (n.1881+34A=) c.2043+34A= (n.2043+34A=) c.2139+34A= (n.2139+34A=) n.558+34A= c.2100+34A= (n.2100+34A=) c.1932+34A= (n.1932+34A=) | |
| 21 | g.25891689C>A | CA9987042 | APP | n.2178+33G>T n.608+33G>T n.877+33G>T c.2211+33G>T (n.2211+33G>T) c.1986+33G>T (n.1986+33G>T) c.1818+33G>T (n.1818+33G>T) c.2154+33G>T (n.2154+33G>T) c.2157+33G>T (n.2157+33G>T) c.1881+33G>T (n.1881+33G>T) c.2043+33G>T (n.2043+33G>T) c.2139+33G>T (n.2139+33G>T) n.558+33G>T c.2100+33G>T (n.2100+33G>T) c.1932+33G>T (n.1932+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891689C= | CA2383551583 | APP | n.2178+33G= n.608+33G= n.877+33G= c.2211+33G= (n.2211+33G=) c.1986+33G= (n.1986+33G=) c.1818+33G= (n.1818+33G=) c.2154+33G= (n.2154+33G=) c.2157+33G= (n.2157+33G=) c.1881+33G= (n.1881+33G=) c.2043+33G= (n.2043+33G=) c.2139+33G= (n.2139+33G=) n.558+33G= c.2100+33G= (n.2100+33G=) c.1932+33G= (n.1932+33G=) | |
| 21 | g.25891689C>G | CA9987041 | APP | n.2178+33G>C n.608+33G>C n.877+33G>C c.2211+33G>C (n.2211+33G>C) c.1986+33G>C (n.1986+33G>C) c.1818+33G>C (n.1818+33G>C) c.2154+33G>C (n.2154+33G>C) c.2157+33G>C (n.2157+33G>C) c.1881+33G>C (n.1881+33G>C) c.2043+33G>C (n.2043+33G>C) c.2139+33G>C (n.2139+33G>C) n.558+33G>C c.2100+33G>C (n.2100+33G>C) c.1932+33G>C (n.1932+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891690C>T | CA2654122384 | APP | n.2178+32G>A n.608+32G>A n.877+32G>A c.2211+32G>A (n.2211+32G>A) c.1986+32G>A (n.1986+32G>A) c.1818+32G>A (n.1818+32G>A) c.2154+32G>A (n.2154+32G>A) c.2157+32G>A (n.2157+32G>A) c.1881+32G>A (n.1881+32G>A) c.2043+32G>A (n.2043+32G>A) c.2139+32G>A (n.2139+32G>A) n.558+32G>A c.2100+32G>A (n.2100+32G>A) c.1932+32G>A (n.1932+32G>A) | gnomAD v4 |
| 21 | g.25891693C>T | CA2513729740 | APP | n.2178+29G>A n.608+29G>A n.877+29G>A c.2211+29G>A (n.2211+29G>A) c.1986+29G>A (n.1986+29G>A) c.1818+29G>A (n.1818+29G>A) c.2154+29G>A (n.2154+29G>A) c.2157+29G>A (n.2157+29G>A) c.1881+29G>A (n.1881+29G>A) c.2043+29G>A (n.2043+29G>A) c.2139+29G>A (n.2139+29G>A) n.558+29G>A c.2100+29G>A (n.2100+29G>A) c.1932+29G>A (n.1932+29G>A) | |
| 21 | g.25891694T>C | CA2654122385 | APP | n.2178+28A>G n.608+28A>G n.877+28A>G c.2211+28A>G (n.2211+28A>G) c.1986+28A>G (n.1986+28A>G) c.1818+28A>G (n.1818+28A>G) c.2154+28A>G (n.2154+28A>G) c.2157+28A>G (n.2157+28A>G) c.1881+28A>G (n.1881+28A>G) c.2043+28A>G (n.2043+28A>G) c.2139+28A>G (n.2139+28A>G) n.558+28A>G c.2100+28A>G (n.2100+28A>G) c.1932+28A>G (n.1932+28A>G) | gnomAD v4 |
| 21 | g.25891696G>C | CA9987043 | APP | n.2178+26C>G n.608+26C>G n.877+26C>G c.2211+26C>G (n.2211+26C>G) c.1986+26C>G (n.1986+26C>G) c.1818+26C>G (n.1818+26C>G) c.2154+26C>G (n.2154+26C>G) c.2157+26C>G (n.2157+26C>G) c.1881+26C>G (n.1881+26C>G) c.2043+26C>G (n.2043+26C>G) c.2139+26C>G (n.2139+26C>G) n.558+26C>G c.2100+26C>G (n.2100+26C>G) c.1932+26C>G (n.1932+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891696G= | CA2383551584 | APP | n.2178+26C= n.608+26C= n.877+26C= c.2211+26C= (n.2211+26C=) c.1986+26C= (n.1986+26C=) c.1818+26C= (n.1818+26C=) c.2154+26C= (n.2154+26C=) c.2157+26C= (n.2157+26C=) c.1881+26C= (n.1881+26C=) c.2043+26C= (n.2043+26C=) c.2139+26C= (n.2139+26C=) n.558+26C= c.2100+26C= (n.2100+26C=) c.1932+26C= (n.1932+26C=) | |
| 21 | g.25891696G>T | CA319097530 | APP | n.2178+26C>A n.608+26C>A n.877+26C>A c.2211+26C>A (n.2211+26C>A) c.1986+26C>A (n.1986+26C>A) c.1818+26C>A (n.1818+26C>A) c.2154+26C>A (n.2154+26C>A) c.2157+26C>A (n.2157+26C>A) c.1881+26C>A (n.1881+26C>A) c.2043+26C>A (n.2043+26C>A) c.2139+26C>A (n.2139+26C>A) n.558+26C>A c.2100+26C>A (n.2100+26C>A) c.1932+26C>A (n.1932+26C>A) | dbSNP |
| 21 | g.25891697G= | CA2383551585 | APP | n.2178+25C= n.608+25C= n.877+25C= c.2211+25C= (n.2211+25C=) c.1986+25C= (n.1986+25C=) c.1818+25C= (n.1818+25C=) c.2154+25C= (n.2154+25C=) c.2157+25C= (n.2157+25C=) c.1881+25C= (n.1881+25C=) c.2043+25C= (n.2043+25C=) c.2139+25C= (n.2139+25C=) n.558+25C= c.2100+25C= (n.2100+25C=) c.1932+25C= (n.1932+25C=) | |
| 21 | g.25891697G>T | CA319097536 | APP | n.2178+25C>A n.608+25C>A n.877+25C>A c.2211+25C>A (n.2211+25C>A) c.1986+25C>A (n.1986+25C>A) c.1818+25C>A (n.1818+25C>A) c.2154+25C>A (n.2154+25C>A) c.2157+25C>A (n.2157+25C>A) c.1881+25C>A (n.1881+25C>A) c.2043+25C>A (n.2043+25C>A) c.2139+25C>A (n.2139+25C>A) n.558+25C>A c.2100+25C>A (n.2100+25C>A) c.1932+25C>A (n.1932+25C>A) | dbSNP |
| 21 | g.25891701C>A | CA2737477486 | APP | n.2178+21G>T n.608+21G>T n.877+21G>T c.2211+21G>T (n.2211+21G>T) c.1986+21G>T (n.1986+21G>T) c.1818+21G>T (n.1818+21G>T) c.2154+21G>T (n.2154+21G>T) c.2157+21G>T (n.2157+21G>T) c.1881+21G>T (n.1881+21G>T) c.2043+21G>T (n.2043+21G>T) c.2139+21G>T (n.2139+21G>T) n.558+21G>T c.2100+21G>T (n.2100+21G>T) c.1932+21G>T (n.1932+21G>T) | dbSNP |
| 21 | g.25891701C= | CA2383551586 | APP | n.2178+21G= n.608+21G= n.877+21G= c.2211+21G= (n.2211+21G=) c.1986+21G= (n.1986+21G=) c.1818+21G= (n.1818+21G=) c.2154+21G= (n.2154+21G=) c.2157+21G= (n.2157+21G=) c.1881+21G= (n.1881+21G=) c.2043+21G= (n.2043+21G=) c.2139+21G= (n.2139+21G=) n.558+21G= c.2100+21G= (n.2100+21G=) c.1932+21G= (n.1932+21G=) | |
| 21 | g.25891702A>C | CA2654122387 | APP | n.2178+20T>G n.608+20T>G n.877+20T>G c.2211+20T>G (n.2211+20T>G) c.1986+20T>G (n.1986+20T>G) c.1818+20T>G (n.1818+20T>G) c.2154+20T>G (n.2154+20T>G) c.2157+20T>G (n.2157+20T>G) c.1881+20T>G (n.1881+20T>G) c.2043+20T>G (n.2043+20T>G) c.2139+20T>G (n.2139+20T>G) n.558+20T>G c.2100+20T>G (n.2100+20T>G) c.1932+20T>G (n.1932+20T>G) | gnomAD v4 |
| 21 | g.25891702dup | CA9987044 | APP | n.2178+20dup n.608+20dup n.877+20dup c.2211+20dup (n.2211+20dup) c.1986+20dup (n.1986+20dup) c.1818+20dup (n.1818+20dup) c.2154+20dup (n.2154+20dup) c.2157+20dup (n.2157+20dup) c.1881+20dup (n.1881+20dup) c.2043+20dup (n.2043+20dup) c.2139+20dup (n.2139+20dup) n.558+20dup c.2100+20dup (n.2100+20dup) c.1932+20dup (n.1932+20dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891704G>T | CA2577467057 | APP | n.2178+18C>A n.608+18C>A n.877+18C>A c.2211+18C>A (n.2211+18C>A) c.1986+18C>A (n.1986+18C>A) c.1818+18C>A (n.1818+18C>A) c.2154+18C>A (n.2154+18C>A) c.2157+18C>A (n.2157+18C>A) c.1881+18C>A (n.1881+18C>A) c.2043+18C>A (n.2043+18C>A) c.2139+18C>A (n.2139+18C>A) n.558+18C>A c.2100+18C>A (n.2100+18C>A) c.1932+18C>A (n.1932+18C>A) | |
| 21 | g.25891705C= | CA2383551587 | APP | n.2178+17G= n.608+17G= n.877+17G= c.2211+17G= (n.2211+17G=) c.1986+17G= (n.1986+17G=) c.1818+17G= (n.1818+17G=) c.2154+17G= (n.2154+17G=) c.2157+17G= (n.2157+17G=) c.1881+17G= (n.1881+17G=) c.2043+17G= (n.2043+17G=) c.2139+17G= (n.2139+17G=) n.558+17G= c.2100+17G= (n.2100+17G=) c.1932+17G= (n.1932+17G=) | |
| 21 | g.25891705C>T | CA637162691 | APP | n.2178+17G>A n.608+17G>A n.877+17G>A c.2211+17G>A (n.2211+17G>A) c.1986+17G>A (n.1986+17G>A) c.1818+17G>A (n.1818+17G>A) c.2154+17G>A (n.2154+17G>A) c.2157+17G>A (n.2157+17G>A) c.1881+17G>A (n.1881+17G>A) c.2043+17G>A (n.2043+17G>A) c.2139+17G>A (n.2139+17G>A) n.558+17G>A c.2100+17G>A (n.2100+17G>A) c.1932+17G>A (n.1932+17G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891706A>C | CA2654122389 | APP | n.2178+16T>G n.608+16T>G n.877+16T>G c.2211+16T>G (n.2211+16T>G) c.1986+16T>G (n.1986+16T>G) c.1818+16T>G (n.1818+16T>G) c.2154+16T>G (n.2154+16T>G) c.2157+16T>G (n.2157+16T>G) c.1881+16T>G (n.1881+16T>G) c.2043+16T>G (n.2043+16T>G) c.2139+16T>G (n.2139+16T>G) n.558+16T>G c.2100+16T>G (n.2100+16T>G) c.1932+16T>G (n.1932+16T>G) | gnomAD v4 |
| 21 | g.25891707G= | CA2383551588 | APP | n.2178+15C= n.608+15C= n.877+15C= c.2211+15C= (n.2211+15C=) c.1986+15C= (n.1986+15C=) c.1818+15C= (n.1818+15C=) c.2154+15C= (n.2154+15C=) c.2157+15C= (n.2157+15C=) c.1881+15C= (n.1881+15C=) c.2043+15C= (n.2043+15C=) c.2139+15C= (n.2139+15C=) n.558+15C= c.2100+15C= (n.2100+15C=) c.1932+15C= (n.1932+15C=) | |
| 21 | g.25891707G>T | CA9987045 | APP | n.2178+15C>A n.608+15C>A n.877+15C>A c.2211+15C>A (n.2211+15C>A) c.1986+15C>A (n.1986+15C>A) c.1818+15C>A (n.1818+15C>A) c.2154+15C>A (n.2154+15C>A) c.2157+15C>A (n.2157+15C>A) c.1881+15C>A (n.1881+15C>A) c.2043+15C>A (n.2043+15C>A) c.2139+15C>A (n.2139+15C>A) n.558+15C>A c.2100+15C>A (n.2100+15C>A) c.1932+15C>A (n.1932+15C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891711A= | CA2383551589 | APP | n.2178+11T= n.608+11T= n.877+11T= c.2211+11T= (n.2211+11T=) c.1986+11T= (n.1986+11T=) c.1818+11T= (n.1818+11T=) c.2154+11T= (n.2154+11T=) c.2157+11T= (n.2157+11T=) c.1881+11T= (n.1881+11T=) c.2043+11T= (n.2043+11T=) c.2139+11T= (n.2139+11T=) n.558+11T= c.2100+11T= (n.2100+11T=) c.1932+11T= (n.1932+11T=) | |
| 21 | g.25891711A>C | CA2654122390 | APP | n.2178+11T>G n.608+11T>G n.877+11T>G c.2211+11T>G (n.2211+11T>G) c.1986+11T>G (n.1986+11T>G) c.1818+11T>G (n.1818+11T>G) c.2154+11T>G (n.2154+11T>G) c.2157+11T>G (n.2157+11T>G) c.1881+11T>G (n.1881+11T>G) c.2043+11T>G (n.2043+11T>G) c.2139+11T>G (n.2139+11T>G) n.558+11T>G c.2100+11T>G (n.2100+11T>G) c.1932+11T>G (n.1932+11T>G) | gnomAD v4 |
| 21 | g.25891711A>G | CA2383551590 | APP | n.2178+11T>C n.608+11T>C n.877+11T>C c.2211+11T>C (n.2211+11T>C) c.1986+11T>C (n.1986+11T>C) c.1818+11T>C (n.1818+11T>C) c.2154+11T>C (n.2154+11T>C) c.2157+11T>C (n.2157+11T>C) c.1881+11T>C (n.1881+11T>C) c.2043+11T>C (n.2043+11T>C) c.2139+11T>C (n.2139+11T>C) n.558+11T>C c.2100+11T>C (n.2100+11T>C) c.1932+11T>C (n.1932+11T>C) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891715del | CA2654122391 | APP | n.2178+9del n.608+9del n.877+9del c.2211+9del (n.2211+9del) c.1986+9del (n.1986+9del) c.1818+9del (n.1818+9del) c.2154+9del (n.2154+9del) c.2157+9del (n.2157+9del) c.1881+9del (n.1881+9del) c.2043+9del (n.2043+9del) c.2139+9del (n.2139+9del) n.558+9del c.2100+9del (n.2100+9del) c.1932+9del (n.1932+9del) | gnomAD v4 |
| 21 | g.25891717C>T | CA2654122392 | APP | n.2178+5G>A n.608+5G>A n.877+5G>A c.2211+5G>A (n.2211+5G>A) c.1986+5G>A (n.1986+5G>A) c.1818+5G>A (n.1818+5G>A) c.2154+5G>A (n.2154+5G>A) c.2157+5G>A (n.2157+5G>A) c.1881+5G>A (n.1881+5G>A) c.2043+5G>A (n.2043+5G>A) c.2139+5G>A (n.2139+5G>A) n.558+5G>A c.2100+5G>A (n.2100+5G>A) c.1932+5G>A (n.1932+5G>A) | gnomAD v4 |
| 21 | g.25891718C>A | CA2739735596 | APP | n.2178+4G>T n.608+4G>T n.877+4G>T c.2211+4G>T (n.2211+4G>T) c.1986+4G>T (n.1986+4G>T) c.1818+4G>T (n.1818+4G>T) c.2154+4G>T (n.2154+4G>T) c.2157+4G>T (n.2157+4G>T) c.1881+4G>T (n.1881+4G>T) c.2043+4G>T (n.2043+4G>T) c.2139+4G>T (n.2139+4G>T) n.558+4G>T c.2100+4G>T (n.2100+4G>T) c.1932+4G>T (n.1932+4G>T) | |
| 21 | g.25891718C>G | CA2739735598 | APP | n.2178+4G>C n.608+4G>C n.877+4G>C c.2211+4G>C (n.2211+4G>C) c.1986+4G>C (n.1986+4G>C) c.1818+4G>C (n.1818+4G>C) c.2154+4G>C (n.2154+4G>C) c.2157+4G>C (n.2157+4G>C) c.1881+4G>C (n.1881+4G>C) c.2043+4G>C (n.2043+4G>C) c.2139+4G>C (n.2139+4G>C) n.558+4G>C c.2100+4G>C (n.2100+4G>C) c.1932+4G>C (n.1932+4G>C) | |
| 21 | g.25891718C>T | CA2739735597 | APP | n.2178+4G>A n.608+4G>A n.877+4G>A c.2211+4G>A (n.2211+4G>A) c.1986+4G>A (n.1986+4G>A) c.1818+4G>A (n.1818+4G>A) c.2154+4G>A (n.2154+4G>A) c.2157+4G>A (n.2157+4G>A) c.1881+4G>A (n.1881+4G>A) c.2043+4G>A (n.2043+4G>A) c.2139+4G>A (n.2139+4G>A) n.558+4G>A c.2100+4G>A (n.2100+4G>A) c.1932+4G>A (n.1932+4G>A) | |
| 21 | g.25891719T>A | CA637162692 | APP | n.2178+3A>T n.608+3A>T n.877+3A>T c.2211+3A>T (n.2211+3A>T) c.1986+3A>T (n.1986+3A>T) c.1818+3A>T (n.1818+3A>T) c.2154+3A>T (n.2154+3A>T) c.2157+3A>T (n.2157+3A>T) c.1881+3A>T (n.1881+3A>T) c.2043+3A>T (n.2043+3A>T) c.2139+3A>T (n.2139+3A>T) n.558+3A>T c.2100+3A>T (n.2100+3A>T) c.1932+3A>T (n.1932+3A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891719T= | CA2383551591 | APP | n.2178+3A= n.608+3A= n.877+3A= c.2211+3A= (n.2211+3A=) c.1986+3A= (n.1986+3A=) c.1818+3A= (n.1818+3A=) c.2154+3A= (n.2154+3A=) c.2157+3A= (n.2157+3A=) c.1881+3A= (n.1881+3A=) c.2043+3A= (n.2043+3A=) c.2139+3A= (n.2139+3A=) n.558+3A= c.2100+3A= (n.2100+3A=) c.1932+3A= (n.1932+3A=) | |
| 21 | g.25891720del | CA2695230060 | APP | n.2178+2del n.608+2del n.877+2del c.2211+2del (n.2211+2del) c.1986+2del (n.1986+2del) c.1818+2del (n.1818+2del) c.2154+2del (n.2154+2del) c.2157+2del (n.2157+2del) c.1881+2del (n.1881+2del) c.2043+2del (n.2043+2del) c.2139+2del (n.2139+2del) n.558+2del c.2100+2del (n.2100+2del) c.1932+2del (n.1932+2del) | |
| 21 | g.25891720A= | CA2383551592 | APP | n.2178+2T= n.608+2T= n.877+2T= c.2211+2T= (n.2211+2T=) c.1986+2T= (n.1986+2T=) c.1818+2T= (n.1818+2T=) c.2154+2T= (n.2154+2T=) c.2157+2T= (n.2157+2T=) c.1881+2T= (n.1881+2T=) c.2043+2T= (n.2043+2T=) c.2139+2T= (n.2139+2T=) n.558+2T= c.2100+2T= (n.2100+2T=) c.1932+2T= (n.1932+2T=) | |
| 21 | g.25891720A>C | CA9987046 | APP | n.2178+2T>G n.608+2T>G n.877+2T>G c.2211+2T>G (n.2211+2T>G) c.1986+2T>G (n.1986+2T>G) c.1818+2T>G (n.1818+2T>G) c.2154+2T>G (n.2154+2T>G) c.2157+2T>G (n.2157+2T>G) c.1881+2T>G (n.1881+2T>G) c.2043+2T>G (n.2043+2T>G) c.2139+2T>G (n.2139+2T>G) n.558+2T>G c.2100+2T>G (n.2100+2T>G) c.1932+2T>G (n.1932+2T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891720A>G | CA409805406 | APP | n.2178+2T>C n.608+2T>C n.877+2T>C c.2211+2T>C (n.2211+2T>C) c.1986+2T>C (n.1986+2T>C) c.1818+2T>C (n.1818+2T>C) c.2154+2T>C (n.2154+2T>C) c.2157+2T>C (n.2157+2T>C) c.1881+2T>C (n.1881+2T>C) c.2043+2T>C (n.2043+2T>C) c.2139+2T>C (n.2139+2T>C) n.558+2T>C c.2100+2T>C (n.2100+2T>C) c.1932+2T>C (n.1932+2T>C) | |
| 21 | g.25891720A>T | CA409805407 | APP | n.2178+2T>A n.608+2T>A n.877+2T>A c.2211+2T>A (n.2211+2T>A) c.1986+2T>A (n.1986+2T>A) c.1818+2T>A (n.1818+2T>A) c.2154+2T>A (n.2154+2T>A) c.2157+2T>A (n.2157+2T>A) c.1881+2T>A (n.1881+2T>A) c.2043+2T>A (n.2043+2T>A) c.2139+2T>A (n.2139+2T>A) n.558+2T>A c.2100+2T>A (n.2100+2T>A) c.1932+2T>A (n.1932+2T>A) | |
| 21 | g.25891721C>A | CA409805409 | APP | n.2178+1G>T n.608+1G>T n.877+1G>T c.2211+1G>T (n.2211+1G>T) c.1986+1G>T (n.1986+1G>T) c.1818+1G>T (n.1818+1G>T) c.2154+1G>T (n.2154+1G>T) c.2157+1G>T (n.2157+1G>T) c.1881+1G>T (n.1881+1G>T) c.2043+1G>T (n.2043+1G>T) c.2139+1G>T (n.2139+1G>T) n.558+1G>T c.2100+1G>T (n.2100+1G>T) c.1932+1G>T (n.1932+1G>T) | |
| 21 | g.25891721C>G | CA409805410 | APP | n.2178+1G>C n.608+1G>C n.877+1G>C c.2211+1G>C (n.2211+1G>C) c.1986+1G>C (n.1986+1G>C) c.1818+1G>C (n.1818+1G>C) c.2154+1G>C (n.2154+1G>C) c.2157+1G>C (n.2157+1G>C) c.1881+1G>C (n.1881+1G>C) c.2043+1G>C (n.2043+1G>C) c.2139+1G>C (n.2139+1G>C) n.558+1G>C c.2100+1G>C (n.2100+1G>C) c.1932+1G>C (n.1932+1G>C) | |
| 21 | g.25891721C>T | CA409805408 | APP | n.2178+1G>A n.608+1G>A n.877+1G>A c.2211+1G>A (n.2211+1G>A) c.1986+1G>A (n.1986+1G>A) c.1818+1G>A (n.1818+1G>A) c.2154+1G>A (n.2154+1G>A) c.2157+1G>A (n.2157+1G>A) c.1881+1G>A (n.1881+1G>A) c.2043+1G>A (n.2043+1G>A) c.2139+1G>A (n.2139+1G>A) n.558+1G>A c.2100+1G>A (n.2100+1G>A) c.1932+1G>A (n.1932+1G>A) | |
| 21 | g.25891722C>A | CA409805411 | APP | n.2178G>T n.608G>T n.877G>T c.2211G>T (p.Glu737Asp) c.1986G>T (p.Glu662Asp) c.1818G>T (p.Glu606Asp) c.2154G>T (p.Glu718Asp) c.2157G>T (p.Glu719Asp) c.1881G>T (p.Glu627Asp) c.2043G>T (p.Glu681Asp) c.2139G>T (p.Glu713Asp) n.558G>T c.2100G>T (p.Glu700Asp) c.1932G>T (p.Glu644Asp) | |
| 21 | g.25891722C>G | CA409805412 | APP | n.2178G>C n.608G>C n.877G>C c.2211G>C (p.Glu737Asp) c.1986G>C (p.Glu662Asp) c.1818G>C (p.Glu606Asp) c.2154G>C (p.Glu718Asp) c.2157G>C (p.Glu719Asp) c.1881G>C (p.Glu627Asp) c.2043G>C (p.Glu681Asp) c.2139G>C (p.Glu713Asp) n.558G>C c.2100G>C (p.Glu700Asp) c.1932G>C (p.Glu644Asp) | |
| 21 | g.25891722C>T | CA511685953 | APP | n.2178G>A n.608G>A n.877G>A c.2211G>A (p.Glu737=) c.1986G>A (p.Glu662=) c.1818G>A (p.Glu606=) c.2154G>A (p.Glu718=) c.2157G>A (p.Glu719=) c.1881G>A (p.Glu627=) c.2043G>A (p.Glu681=) c.2139G>A (p.Glu713=) n.558G>A c.2100G>A (p.Glu700=) c.1932G>A (p.Glu644=) | gnomAD v4 |
| 21 | g.25891723T>A | CA409805413 | APP | n.2177A>T n.607A>T n.876A>T c.2210A>T (p.Glu737Val) c.1985A>T (p.Glu662Val) c.1817A>T (p.Glu606Val) c.2153A>T (p.Glu718Val) c.2156A>T (p.Glu719Val) c.1880A>T (p.Glu627Val) c.2042A>T (p.Glu681Val) c.2138A>T (p.Glu713Val) n.557A>T c.2099A>T (p.Glu700Val) c.1931A>T (p.Glu644Val) | |
| 21 | g.25891723T>C | CA409805414 | APP | n.2177A>G n.607A>G n.876A>G c.2210A>G (p.Glu737Gly) c.1985A>G (p.Glu662Gly) c.1817A>G (p.Glu606Gly) c.2153A>G (p.Glu718Gly) c.2156A>G (p.Glu719Gly) c.1880A>G (p.Glu627Gly) c.2042A>G (p.Glu681Gly) c.2138A>G (p.Glu713Gly) n.557A>G c.2099A>G (p.Glu700Gly) c.1931A>G (p.Glu644Gly) | |
| 21 | g.25891723T>G | CA409805415 | APP | n.2177A>C n.607A>C n.876A>C c.2210A>C (p.Glu737Ala) c.1985A>C (p.Glu662Ala) c.1817A>C (p.Glu606Ala) c.2153A>C (p.Glu718Ala) c.2156A>C (p.Glu719Ala) c.1880A>C (p.Glu627Ala) c.2042A>C (p.Glu681Ala) c.2138A>C (p.Glu713Ala) n.557A>C c.2099A>C (p.Glu700Ala) c.1931A>C (p.Glu644Ala) | |
| 21 | g.25891724C>A | CA409805416 | APP | n.2176G>T n.606G>T n.875G>T c.2209G>T (p.Glu737Ter) c.1984G>T (p.Glu662Ter) c.1816G>T (p.Glu606Ter) c.2152G>T (p.Glu718Ter) c.2155G>T (p.Glu719Ter) c.1879G>T (p.Glu627Ter) c.2041G>T (p.Glu681Ter) c.2137G>T (p.Glu713Ter) n.556G>T c.2098G>T (p.Glu700Ter) c.1930G>T (p.Glu644Ter) | |
| 21 | g.25891724C>G | CA409805417 | APP | n.2176G>C n.606G>C n.875G>C c.2209G>C (p.Glu737Gln) c.1984G>C (p.Glu662Gln) c.1816G>C (p.Glu606Gln) c.2152G>C (p.Glu718Gln) c.2155G>C (p.Glu719Gln) c.1879G>C (p.Glu627Gln) c.2041G>C (p.Glu681Gln) c.2137G>C (p.Glu713Gln) n.556G>C c.2098G>C (p.Glu700Gln) c.1930G>C (p.Glu644Gln) | |
| 21 | g.25891724C>T | CA409805418 | APP | n.2176G>A n.606G>A n.875G>A c.2209G>A (p.Glu737Lys) c.1984G>A (p.Glu662Lys) c.1816G>A (p.Glu606Lys) c.2152G>A (p.Glu718Lys) c.2155G>A (p.Glu719Lys) c.1879G>A (p.Glu627Lys) c.2041G>A (p.Glu681Lys) c.2137G>A (p.Glu713Lys) n.556G>A c.2098G>A (p.Glu700Lys) c.1930G>A (p.Glu644Lys) | |
| 21 | g.25891725C>A | CA511685954 | APP | n.2175G>T n.605G>T n.874G>T c.2208G>T (p.Val736=) c.1983G>T (p.Val661=) c.1815G>T (p.Val605=) c.2151G>T (p.Val717=) c.2154G>T (p.Val718=) c.1878G>T (p.Val626=) c.2040G>T (p.Val680=) c.2136G>T (p.Val712=) n.555G>T c.2097G>T (p.Val699=) c.1929G>T (p.Val643=) | |
| 21 | g.25891725C= | CA2383551593 | APP | n.2175G= n.605G= n.874G= c.2208G= (p.Val736=) c.1983G= (p.Val661=) c.1815G= (p.Val605=) c.2151G= (p.Val717=) c.2154G= (p.Val718=) c.1878G= (p.Val626=) c.2040G= (p.Val680=) c.2136G= (p.Val712=) n.555G= c.2097G= (p.Val699=) c.1929G= (p.Val643=) | |
| 21 | g.25891725C>G | CA511685955 | APP | n.2175G>C n.605G>C n.874G>C c.2208G>C (p.Val736=) c.1983G>C (p.Val661=) c.1815G>C (p.Val605=) c.2151G>C (p.Val717=) c.2154G>C (p.Val718=) c.1878G>C (p.Val626=) c.2040G>C (p.Val680=) c.2136G>C (p.Val712=) n.555G>C c.2097G>C (p.Val699=) c.1929G>C (p.Val643=) | |
| 21 | g.25891725C>T | CA9987047 | APP | n.2175G>A n.605G>A n.874G>A c.2208G>A (p.Val736=) c.1983G>A (p.Val661=) c.1815G>A (p.Val605=) c.2151G>A (p.Val717=) c.2154G>A (p.Val718=) c.1878G>A (p.Val626=) c.2040G>A (p.Val680=) c.2136G>A (p.Val712=) n.555G>A c.2097G>A (p.Val699=) c.1929G>A (p.Val643=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891726A>C | CA409805419 | APP | n.2174T>G n.604T>G n.873T>G c.2207T>G (p.Val736Gly) c.1982T>G (p.Val661Gly) c.1814T>G (p.Val605Gly) c.2150T>G (p.Val717Gly) c.2153T>G (p.Val718Gly) c.1877T>G (p.Val626Gly) c.2039T>G (p.Val680Gly) c.2135T>G (p.Val712Gly) n.554T>G c.2096T>G (p.Val699Gly) c.1928T>G (p.Val643Gly) | |
| 21 | g.25891726A>G | CA409805420 | APP | n.2174T>C n.604T>C n.873T>C c.2207T>C (p.Val736Ala) c.1982T>C (p.Val661Ala) c.1814T>C (p.Val605Ala) c.2150T>C (p.Val717Ala) c.2153T>C (p.Val718Ala) c.1877T>C (p.Val626Ala) c.2039T>C (p.Val680Ala) c.2135T>C (p.Val712Ala) n.554T>C c.2096T>C (p.Val699Ala) c.1928T>C (p.Val643Ala) | |
| 21 | g.25891726A>T | CA409805421 | APP | n.2174T>A n.604T>A n.873T>A c.2207T>A (p.Val736Glu) c.1982T>A (p.Val661Glu) c.1814T>A (p.Val605Glu) c.2150T>A (p.Val717Glu) c.2153T>A (p.Val718Glu) c.1877T>A (p.Val626Glu) c.2039T>A (p.Val680Glu) c.2135T>A (p.Val712Glu) n.554T>A c.2096T>A (p.Val699Glu) c.1928T>A (p.Val643Glu) | |
| 21 | g.25891727C>A | CA409805423 | APP | n.2173G>T n.603G>T n.872G>T c.2206G>T (p.Val736Leu) c.1981G>T (p.Val661Leu) c.1813G>T (p.Val605Leu) c.2149G>T (p.Val717Leu) c.2152G>T (p.Val718Leu) c.1876G>T (p.Val626Leu) c.2038G>T (p.Val680Leu) c.2134G>T (p.Val712Leu) n.553G>T c.2095G>T (p.Val699Leu) c.1927G>T (p.Val643Leu) | gnomAD v4 |
| 21 | g.25891727C>G | CA409805424 | APP | n.2173G>C n.603G>C n.872G>C c.2206G>C (p.Val736Leu) c.1981G>C (p.Val661Leu) c.1813G>C (p.Val605Leu) c.2149G>C (p.Val717Leu) c.2152G>C (p.Val718Leu) c.1876G>C (p.Val626Leu) c.2038G>C (p.Val680Leu) c.2134G>C (p.Val712Leu) n.553G>C c.2095G>C (p.Val699Leu) c.1927G>C (p.Val643Leu) | |
| 21 | g.25891727C>T | CA409805422 | APP | n.2173G>A n.603G>A n.872G>A c.2206G>A (p.Val736Met) c.1981G>A (p.Val661Met) c.1813G>A (p.Val605Met) c.2149G>A (p.Val717Met) c.2152G>A (p.Val718Met) c.1876G>A (p.Val626Met) c.2038G>A (p.Val680Met) c.2134G>A (p.Val712Met) n.553G>A c.2095G>A (p.Val699Met) c.1927G>A (p.Val643Met) | |
| 21 | g.25891728C>A | CA511685957 | APP | n.2172G>T n.602G>T n.871G>T c.2205G>T (p.Val735=) c.1980G>T (p.Val660=) c.1812G>T (p.Val604=) c.2148G>T (p.Val716=) c.2151G>T (p.Val717=) c.1875G>T (p.Val625=) c.2037G>T (p.Val679=) c.2133G>T (p.Val711=) n.552G>T c.2094G>T (p.Val698=) c.1926G>T (p.Val642=) | |
| 21 | g.25891728C= | CA2383551594 | APP | n.2172G= n.602G= n.871G= c.2205G= (p.Val735=) c.1980G= (p.Val660=) c.1812G= (p.Val604=) c.2148G= (p.Val716=) c.2151G= (p.Val717=) c.1875G= (p.Val625=) c.2037G= (p.Val679=) c.2133G= (p.Val711=) n.552G= c.2094G= (p.Val698=) c.1926G= (p.Val642=) | |
| 21 | g.25891728C>G | CA511685956 | APP | n.2172G>C n.602G>C n.871G>C c.2205G>C (p.Val735=) c.1980G>C (p.Val660=) c.1812G>C (p.Val604=) c.2148G>C (p.Val716=) c.2151G>C (p.Val717=) c.1875G>C (p.Val625=) c.2037G>C (p.Val679=) c.2133G>C (p.Val711=) n.552G>C c.2094G>C (p.Val698=) c.1926G>C (p.Val642=) | dbSNP |
| 21 | g.25891728C>T | CA511685958 | APP | n.2172G>A n.602G>A n.871G>A c.2205G>A (p.Val735=) c.1980G>A (p.Val660=) c.1812G>A (p.Val604=) c.2148G>A (p.Val716=) c.2151G>A (p.Val717=) c.1875G>A (p.Val625=) c.2037G>A (p.Val679=) c.2133G>A (p.Val711=) n.552G>A c.2094G>A (p.Val698=) c.1926G>A (p.Val642=) | |
| 21 | g.25891729A>C | CA409805425 | APP | n.2171T>G n.601T>G n.870T>G c.2204T>G (p.Val735Gly) c.1979T>G (p.Val660Gly) c.1811T>G (p.Val604Gly) c.2147T>G (p.Val716Gly) c.2150T>G (p.Val717Gly) c.1874T>G (p.Val625Gly) c.2036T>G (p.Val679Gly) c.2132T>G (p.Val711Gly) n.551T>G c.2093T>G (p.Val698Gly) c.1925T>G (p.Val642Gly) | |
| 21 | g.25891729A>G | CA409805426 | APP | n.2171T>C n.601T>C n.870T>C c.2204T>C (p.Val735Ala) c.1979T>C (p.Val660Ala) c.1811T>C (p.Val604Ala) c.2147T>C (p.Val716Ala) c.2150T>C (p.Val717Ala) c.1874T>C (p.Val625Ala) c.2036T>C (p.Val679Ala) c.2132T>C (p.Val711Ala) n.551T>C c.2093T>C (p.Val698Ala) c.1925T>C (p.Val642Ala) | |
| 21 | g.25891729A>T | CA409805427 | APP | n.2171T>A n.601T>A n.870T>A c.2204T>A (p.Val735Glu) c.1979T>A (p.Val660Glu) c.1811T>A (p.Val604Glu) c.2147T>A (p.Val716Glu) c.2150T>A (p.Val717Glu) c.1874T>A (p.Val625Glu) c.2036T>A (p.Val679Glu) c.2132T>A (p.Val711Glu) n.551T>A c.2093T>A (p.Val698Glu) c.1925T>A (p.Val642Glu) | |
| 21 | g.25891730C>A | CA409805428 | APP | n.2170G>T n.600G>T n.869G>T c.2203G>T (p.Val735Leu) c.1978G>T (p.Val660Leu) c.1810G>T (p.Val604Leu) c.2146G>T (p.Val716Leu) c.2149G>T (p.Val717Leu) c.1873G>T (p.Val625Leu) c.2035G>T (p.Val679Leu) c.2131G>T (p.Val711Leu) n.550G>T c.2092G>T (p.Val698Leu) c.1924G>T (p.Val642Leu) | |
| 21 | g.25891730C= | CA2383551595 | APP | n.2170G= n.600G= n.869G= c.2203G= (p.Val735=) c.1978G= (p.Val660=) c.1810G= (p.Val604=) c.2146G= (p.Val716=) c.2149G= (p.Val717=) c.1873G= (p.Val625=) c.2035G= (p.Val679=) c.2131G= (p.Val711=) n.550G= c.2092G= (p.Val698=) c.1924G= (p.Val642=) | |
| 21 | g.25891730C>G | CA409805429 | APP | n.2170G>C n.600G>C n.869G>C c.2203G>C (p.Val735Leu) c.1978G>C (p.Val660Leu) c.1810G>C (p.Val604Leu) c.2146G>C (p.Val716Leu) c.2149G>C (p.Val717Leu) c.1873G>C (p.Val625Leu) c.2035G>C (p.Val679Leu) c.2131G>C (p.Val711Leu) n.550G>C c.2092G>C (p.Val698Leu) c.1924G>C (p.Val642Leu) | |
| 21 | g.25891730C>T | CA409805430 | APP | n.2170G>A n.600G>A n.869G>A c.2203G>A (p.Val735Met) c.1978G>A (p.Val660Met) c.1810G>A (p.Val604Met) c.2146G>A (p.Val716Met) c.2149G>A (p.Val717Met) c.1873G>A (p.Val625Met) c.2035G>A (p.Val679Met) c.2131G>A (p.Val711Met) n.550G>A c.2092G>A (p.Val698Met) c.1924G>A (p.Val642Met) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.25891731A>C | CA511685961 | APP | n.2169T>G n.599T>G n.868T>G c.2202T>G (p.Gly734=) c.1977T>G (p.Gly659=) c.1809T>G (p.Gly603=) c.2145T>G (p.Gly715=) c.2148T>G (p.Gly716=) c.1872T>G (p.Gly624=) c.2034T>G (p.Gly678=) c.2130T>G (p.Gly710=) n.549T>G c.2091T>G (p.Gly697=) c.1923T>G (p.Gly641=) | |
| 21 | g.25891731A>G | CA511685960 | APP | n.2169T>C n.599T>C n.868T>C c.2202T>C (p.Gly734=) c.1977T>C (p.Gly659=) c.1809T>C (p.Gly603=) c.2145T>C (p.Gly715=) c.2148T>C (p.Gly716=) c.1872T>C (p.Gly624=) c.2034T>C (p.Gly678=) c.2130T>C (p.Gly710=) n.549T>C c.2091T>C (p.Gly697=) c.1923T>C (p.Gly641=) | |
| 21 | g.25891731A>T | CA511685959 | APP | n.2169T>A n.599T>A n.868T>A c.2202T>A (p.Gly734=) c.1977T>A (p.Gly659=) c.1809T>A (p.Gly603=) c.2145T>A (p.Gly715=) c.2148T>A (p.Gly716=) c.1872T>A (p.Gly624=) c.2034T>A (p.Gly678=) c.2130T>A (p.Gly710=) n.549T>A c.2091T>A (p.Gly697=) c.1923T>A (p.Gly641=) | |
| 21 | g.25891732C>A | CA409805431 | APP | n.2168G>T n.598G>T n.867G>T c.2201G>T (p.Gly734Val) c.1976G>T (p.Gly659Val) c.1808G>T (p.Gly603Val) c.2144G>T (p.Gly715Val) c.2147G>T (p.Gly716Val) c.1871G>T (p.Gly624Val) c.2033G>T (p.Gly678Val) c.2129G>T (p.Gly710Val) n.548G>T c.2090G>T (p.Gly697Val) c.1922G>T (p.Gly641Val) | |
| 21 | g.25891732C= | CA2383551596 | APP | n.2168G= n.598G= n.867G= c.2201G= (p.Gly734=) c.1976G= (p.Gly659=) c.1808G= (p.Gly603=) c.2144G= (p.Gly715=) c.2147G= (p.Gly716=) c.1871G= (p.Gly624=) c.2033G= (p.Gly678=) c.2129G= (p.Gly710=) n.548G= c.2090G= (p.Gly697=) c.1922G= (p.Gly641=) | |
| 21 | g.25891732C>G | CA409805433 | APP | n.2168G>C n.598G>C n.867G>C c.2201G>C (p.Gly734Ala) c.1976G>C (p.Gly659Ala) c.1808G>C (p.Gly603Ala) c.2144G>C (p.Gly715Ala) c.2147G>C (p.Gly716Ala) c.1871G>C (p.Gly624Ala) c.2033G>C (p.Gly678Ala) c.2129G>C (p.Gly710Ala) n.548G>C c.2090G>C (p.Gly697Ala) c.1922G>C (p.Gly641Ala) | |
| 21 | g.25891732C>T | CA409805432 | APP | n.2168G>A n.598G>A n.867G>A c.2201G>A (p.Gly734Asp) c.1976G>A (p.Gly659Asp) c.1808G>A (p.Gly603Asp) c.2144G>A (p.Gly715Asp) c.2147G>A (p.Gly716Asp) c.1871G>A (p.Gly624Asp) c.2033G>A (p.Gly678Asp) c.2129G>A (p.Gly710Asp) n.548G>A c.2090G>A (p.Gly697Asp) c.1922G>A (p.Gly641Asp) | |
| 21 | g.25891733C>A | CA409805434 | APP | n.2167G>T n.597G>T n.866G>T c.2200G>T (p.Gly734Cys) c.1975G>T (p.Gly659Cys) c.1807G>T (p.Gly603Cys) c.2143G>T (p.Gly715Cys) c.2146G>T (p.Gly716Cys) c.1870G>T (p.Gly624Cys) c.2032G>T (p.Gly678Cys) c.2128G>T (p.Gly710Cys) n.547G>T c.2089G>T (p.Gly697Cys) c.1921G>T (p.Gly641Cys) | |
| 21 | g.25891733C>G | CA409805435 | APP | n.2167G>C n.597G>C n.866G>C c.2200G>C (p.Gly734Arg) c.1975G>C (p.Gly659Arg) c.1807G>C (p.Gly603Arg) c.2143G>C (p.Gly715Arg) c.2146G>C (p.Gly716Arg) c.1870G>C (p.Gly624Arg) c.2032G>C (p.Gly678Arg) c.2128G>C (p.Gly710Arg) n.547G>C c.2089G>C (p.Gly697Arg) c.1921G>C (p.Gly641Arg) | |
| 21 | g.25891733C>T | CA409805436 | APP | n.2167G>A n.597G>A n.866G>A c.2200G>A (p.Gly734Ser) c.1975G>A (p.Gly659Ser) c.1807G>A (p.Gly603Ser) c.2143G>A (p.Gly715Ser) c.2146G>A (p.Gly716Ser) c.1870G>A (p.Gly624Ser) c.2032G>A (p.Gly678Ser) c.2128G>A (p.Gly710Ser) n.547G>A c.2089G>A (p.Gly697Ser) c.1921G>A (p.Gly641Ser) | |
| 21 | g.25891733_25891734dup | CA2383551597 | APP | n.2166_2167dup n.596_597dup n.865_866dup c.2199_2200dup (p.Gly734ValfsTer?) c.1974_1975dup (p.Gly659ValfsTer?) c.1806_1807dup (p.Gly603ValfsTer?) c.2142_2143dup (p.Gly715ValfsTer?) c.2145_2146dup (p.Gly716ValfsTer?) c.1869_1870dup (p.Gly624ValfsTer?) c.2031_2032dup (p.Gly678ValfsTer?) c.2127_2128dup (p.Gly710ValfsTer?) n.546_547dup c.2088_2089dup (p.Gly697ValfsTer?) c.1920_1921dup (p.Gly641ValfsTer?) | dbSNP |
| 21 | g.25891734A= | CA2383551598 | APP | n.2166T= n.596T= n.865T= c.2199T= (p.His733=) c.1974T= (p.His658=) c.1806T= (p.His602=) c.2142T= (p.His714=) c.2145T= (p.His715=) c.1869T= (p.His623=) c.2031T= (p.His677=) c.2127T= (p.His709=) n.546T= c.2088T= (p.His696=) c.1920T= (p.His640=) | |
| 21 | g.25891734A>C | CA409805437 | APP | n.2166T>G n.596T>G n.865T>G c.2199T>G (p.His733Gln) c.1974T>G (p.His658Gln) c.1806T>G (p.His602Gln) c.2142T>G (p.His714Gln) c.2145T>G (p.His715Gln) c.1869T>G (p.His623Gln) c.2031T>G (p.His677Gln) c.2127T>G (p.His709Gln) n.546T>G c.2088T>G (p.His696Gln) c.1920T>G (p.His640Gln) | |
| 21 | g.25891734A>G | CA511685962 | APP | n.2166T>C n.596T>C n.865T>C c.2199T>C (p.His733=) c.1974T>C (p.His658=) c.1806T>C (p.His602=) c.2142T>C (p.His714=) c.2145T>C (p.His715=) c.1869T>C (p.His623=) c.2031T>C (p.His677=) c.2127T>C (p.His709=) n.546T>C c.2088T>C (p.His696=) c.1920T>C (p.His640=) | dbSNP gnomAD v4 |
| 21 | g.25891734A>T | CA409805438 | APP | n.2166T>A n.596T>A n.865T>A c.2199T>A (p.His733Gln) c.1974T>A (p.His658Gln) c.1806T>A (p.His602Gln) c.2142T>A (p.His714Gln) c.2145T>A (p.His715Gln) c.1869T>A (p.His623Gln) c.2031T>A (p.His677Gln) c.2127T>A (p.His709Gln) n.546T>A c.2088T>A (p.His696Gln) c.1920T>A (p.His640Gln) | |
| 21 | g.25891735T>A | CA409805440 | APP | n.2165A>T n.595A>T n.864A>T c.2198A>T (p.His733Leu) c.1973A>T (p.His658Leu) c.1805A>T (p.His602Leu) c.2141A>T (p.His714Leu) c.2144A>T (p.His715Leu) c.1868A>T (p.His623Leu) c.2030A>T (p.His677Leu) c.2126A>T (p.His709Leu) n.545A>T c.2087A>T (p.His696Leu) c.1919A>T (p.His640Leu) | |
| 21 | g.25891735T>C | CA409805441 | APP | n.2165A>G n.595A>G n.864A>G c.2198A>G (p.His733Arg) c.1973A>G (p.His658Arg) c.1805A>G (p.His602Arg) c.2141A>G (p.His714Arg) c.2144A>G (p.His715Arg) c.1868A>G (p.His623Arg) c.2030A>G (p.His677Arg) c.2126A>G (p.His709Arg) n.545A>G c.2087A>G (p.His696Arg) c.1919A>G (p.His640Arg) | |
| 21 | g.25891735T>G | CA409805439 | APP | n.2165A>C n.595A>C n.864A>C c.2198A>C (p.His733Pro) c.1973A>C (p.His658Pro) c.1805A>C (p.His602Pro) c.2141A>C (p.His714Pro) c.2144A>C (p.His715Pro) c.1868A>C (p.His623Pro) c.2030A>C (p.His677Pro) c.2126A>C (p.His709Pro) n.545A>C c.2087A>C (p.His696Pro) c.1919A>C (p.His640Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25891735T= | CA2383551599 | APP | n.2165A= n.595A= n.864A= c.2198A= (p.His733=) c.1973A= (p.His658=) c.1805A= (p.His602=) c.2141A= (p.His714=) c.2144A= (p.His715=) c.1868A= (p.His623=) c.2030A= (p.His677=) c.2126A= (p.His709=) n.545A= c.2087A= (p.His696=) c.1919A= (p.His640=) | |
| 21 | g.25891736G>A | CA409805443 | APP | n.2164C>T n.594C>T n.863C>T c.2197C>T (p.His733Tyr) c.1972C>T (p.His658Tyr) c.1804C>T (p.His602Tyr) c.2140C>T (p.His714Tyr) c.2143C>T (p.His715Tyr) c.1867C>T (p.His623Tyr) c.2029C>T (p.His677Tyr) c.2125C>T (p.His709Tyr) n.544C>T c.2086C>T (p.His696Tyr) c.1918C>T (p.His640Tyr) | |
| 21 | g.25891736G>C | CA409805442 | APP | n.2164C>G n.594C>G n.863C>G c.2197C>G (p.His733Asp) c.1972C>G (p.His658Asp) c.1804C>G (p.His602Asp) c.2140C>G (p.His714Asp) c.2143C>G (p.His715Asp) c.1867C>G (p.His623Asp) c.2029C>G (p.His677Asp) c.2125C>G (p.His709Asp) n.544C>G c.2086C>G (p.His696Asp) c.1918C>G (p.His640Asp) | |
| 21 | g.25891736G>T | CA409805444 | APP | n.2164C>A n.594C>A n.863C>A c.2197C>A (p.His733Asn) c.1972C>A (p.His658Asn) c.1804C>A (p.His602Asn) c.2140C>A (p.His714Asn) c.2143C>A (p.His715Asn) c.1867C>A (p.His623Asn) c.2029C>A (p.His677Asn) c.2125C>A (p.His709Asn) n.544C>A c.2086C>A (p.His696Asn) c.1918C>A (p.His640Asn) | |
| 21 | g.25891737A= | CA2383551600 | APP | n.2163T= n.593T= n.862T= c.2196T= (p.His732=) c.1971T= (p.His657=) c.1803T= (p.His601=) c.2139T= (p.His713=) c.2142T= (p.His714=) c.1866T= (p.His622=) c.2028T= (p.His676=) c.2124T= (p.His708=) n.543T= c.2085T= (p.His695=) c.1917T= (p.His639=) | |
| 21 | g.25891737A>C | CA409805445 | APP | n.2163T>G n.593T>G n.862T>G c.2196T>G (p.His732Gln) c.1971T>G (p.His657Gln) c.1803T>G (p.His601Gln) c.2139T>G (p.His713Gln) c.2142T>G (p.His714Gln) c.1866T>G (p.His622Gln) c.2028T>G (p.His676Gln) c.2124T>G (p.His708Gln) n.543T>G c.2085T>G (p.His695Gln) c.1917T>G (p.His639Gln) | |
| 21 | g.25891737A>G | CA511685965 | APP | n.2163T>C n.593T>C n.862T>C c.2196T>C (p.His732=) c.1971T>C (p.His657=) c.1803T>C (p.His601=) c.2139T>C (p.His713=) c.2142T>C (p.His714=) c.1866T>C (p.His622=) c.2028T>C (p.His676=) c.2124T>C (p.His708=) n.543T>C c.2085T>C (p.His695=) c.1917T>C (p.His639=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891737A>T | CA409805446 | APP | n.2163T>A n.593T>A n.862T>A c.2196T>A (p.His732Gln) c.1971T>A (p.His657Gln) c.1803T>A (p.His601Gln) c.2139T>A (p.His713Gln) c.2142T>A (p.His714Gln) c.1866T>A (p.His622Gln) c.2028T>A (p.His676Gln) c.2124T>A (p.His708Gln) n.543T>A c.2085T>A (p.His695Gln) c.1917T>A (p.His639Gln) | |
| 21 | g.25891738T>A | CA409805447 | APP | n.2162A>T n.592A>T n.861A>T c.2195A>T (p.His732Leu) c.1970A>T (p.His657Leu) c.1802A>T (p.His601Leu) c.2138A>T (p.His713Leu) c.2141A>T (p.His714Leu) c.1865A>T (p.His622Leu) c.2027A>T (p.His676Leu) c.2123A>T (p.His708Leu) n.542A>T c.2084A>T (p.His695Leu) c.1916A>T (p.His639Leu) | |
| 21 | g.25891738T>C | CA409805448 | APP | n.2162A>G n.592A>G n.861A>G c.2195A>G (p.His732Arg) c.1970A>G (p.His657Arg) c.1802A>G (p.His601Arg) c.2138A>G (p.His713Arg) c.2141A>G (p.His714Arg) c.1865A>G (p.His622Arg) c.2027A>G (p.His676Arg) c.2123A>G (p.His708Arg) n.542A>G c.2084A>G (p.His695Arg) c.1916A>G (p.His639Arg) | gnomAD v4 |
| 21 | g.25891738T>G | CA409805449 | APP | n.2162A>C n.592A>C n.861A>C c.2195A>C (p.His732Pro) c.1970A>C (p.His657Pro) c.1802A>C (p.His601Pro) c.2138A>C (p.His713Pro) c.2141A>C (p.His714Pro) c.1865A>C (p.His622Pro) c.2027A>C (p.His676Pro) c.2123A>C (p.His708Pro) n.542A>C c.2084A>C (p.His695Pro) c.1916A>C (p.His639Pro) | |
| 21 | g.25891739G>A | CA409805450 | APP | n.2161C>T n.591C>T n.860C>T c.2194C>T (p.His732Tyr) c.1969C>T (p.His657Tyr) c.1801C>T (p.His601Tyr) c.2137C>T (p.His713Tyr) c.2140C>T (p.His714Tyr) c.1864C>T (p.His622Tyr) c.2026C>T (p.His676Tyr) c.2122C>T (p.His708Tyr) n.541C>T c.2083C>T (p.His695Tyr) c.1915C>T (p.His639Tyr) | |
| 21 | g.25891739G>C | CA409805451 | APP | n.2161C>G n.591C>G n.860C>G c.2194C>G (p.His732Asp) c.1969C>G (p.His657Asp) c.1801C>G (p.His601Asp) c.2137C>G (p.His713Asp) c.2140C>G (p.His714Asp) c.1864C>G (p.His622Asp) c.2026C>G (p.His676Asp) c.2122C>G (p.His708Asp) n.541C>G c.2083C>G (p.His695Asp) c.1915C>G (p.His639Asp) | gnomAD v4 |
| 21 | g.25891739G>T | CA409805452 | APP | n.2161C>A n.591C>A n.860C>A c.2194C>A (p.His732Asn) c.1969C>A (p.His657Asn) c.1801C>A (p.His601Asn) c.2137C>A (p.His713Asn) c.2140C>A (p.His714Asn) c.1864C>A (p.His622Asn) c.2026C>A (p.His676Asn) c.2122C>A (p.His708Asn) n.541C>A c.2083C>A (p.His695Asn) c.1915C>A (p.His639Asn) | |
| 21 | g.25891740A>C | CA409805453 | APP | n.2160T>G n.590T>G n.859T>G c.2193T>G (p.Ile731Met) c.1968T>G (p.Ile656Met) c.1800T>G (p.Ile600Met) c.2136T>G (p.Ile712Met) c.2139T>G (p.Ile713Met) c.1863T>G (p.Ile621Met) c.2025T>G (p.Ile675Met) c.2121T>G (p.Ile707Met) n.540T>G c.2082T>G (p.Ile694Met) c.1914T>G (p.Ile638Met) | |
| 21 | g.25891740A>G | CA511685966 | APP | n.2160T>C n.590T>C n.859T>C c.2193T>C (p.Ile731=) c.1968T>C (p.Ile656=) c.1800T>C (p.Ile600=) c.2136T>C (p.Ile712=) c.2139T>C (p.Ile713=) c.1863T>C (p.Ile621=) c.2025T>C (p.Ile675=) c.2121T>C (p.Ile707=) n.540T>C c.2082T>C (p.Ile694=) c.1914T>C (p.Ile638=) | |
| 21 | g.25891740A>T | CA511685967 | APP | n.2160T>A n.590T>A n.859T>A c.2193T>A (p.Ile731=) c.1968T>A (p.Ile656=) c.1800T>A (p.Ile600=) c.2136T>A (p.Ile712=) c.2139T>A (p.Ile713=) c.1863T>A (p.Ile621=) c.2025T>A (p.Ile675=) c.2121T>A (p.Ile707=) n.540T>A c.2082T>A (p.Ile694=) c.1914T>A (p.Ile638=) | |
| 21 | g.25891741A>C | CA409805456 | APP | n.2159T>G n.589T>G n.858T>G c.2192T>G (p.Ile731Ser) c.1967T>G (p.Ile656Ser) c.1799T>G (p.Ile600Ser) c.2135T>G (p.Ile712Ser) c.2138T>G (p.Ile713Ser) c.1862T>G (p.Ile621Ser) c.2024T>G (p.Ile675Ser) c.2120T>G (p.Ile707Ser) n.539T>G c.2081T>G (p.Ile694Ser) c.1913T>G (p.Ile638Ser) | |
| 21 | g.25891741A>G | CA409805454 | APP | n.2159T>C n.589T>C n.858T>C c.2192T>C (p.Ile731Thr) c.1967T>C (p.Ile656Thr) c.1799T>C (p.Ile600Thr) c.2135T>C (p.Ile712Thr) c.2138T>C (p.Ile713Thr) c.1862T>C (p.Ile621Thr) c.2024T>C (p.Ile675Thr) c.2120T>C (p.Ile707Thr) n.539T>C c.2081T>C (p.Ile694Thr) c.1913T>C (p.Ile638Thr) | |
| 21 | g.25891741A>T | CA409805455 | APP | n.2159T>A n.589T>A n.858T>A c.2192T>A (p.Ile731Asn) c.1967T>A (p.Ile656Asn) c.1799T>A (p.Ile600Asn) c.2135T>A (p.Ile712Asn) c.2138T>A (p.Ile713Asn) c.1862T>A (p.Ile621Asn) c.2024T>A (p.Ile675Asn) c.2120T>A (p.Ile707Asn) n.539T>A c.2081T>A (p.Ile694Asn) c.1913T>A (p.Ile638Asn) | |
| 21 | g.25891742T>A | CA409805457 | APP | n.2158A>T n.588A>T n.857A>T c.2191A>T (p.Ile731Phe) c.1966A>T (p.Ile656Phe) c.1798A>T (p.Ile600Phe) c.2134A>T (p.Ile712Phe) c.2137A>T (p.Ile713Phe) c.1861A>T (p.Ile621Phe) c.2023A>T (p.Ile675Phe) c.2119A>T (p.Ile707Phe) n.538A>T c.2080A>T (p.Ile694Phe) c.1912A>T (p.Ile638Phe) | |
| 21 | g.25891742T>C | CA409805458 | APP | n.2158A>G n.588A>G n.857A>G c.2191A>G (p.Ile731Val) c.1966A>G (p.Ile656Val) c.1798A>G (p.Ile600Val) c.2134A>G (p.Ile712Val) c.2137A>G (p.Ile713Val) c.1861A>G (p.Ile621Val) c.2023A>G (p.Ile675Val) c.2119A>G (p.Ile707Val) n.538A>G c.2080A>G (p.Ile694Val) c.1912A>G (p.Ile638Val) | |
| 21 | g.25891742T>G | CA409805459 | APP | n.2158A>C n.588A>C n.857A>C c.2191A>C (p.Ile731Leu) c.1966A>C (p.Ile656Leu) c.1798A>C (p.Ile600Leu) c.2134A>C (p.Ile712Leu) c.2137A>C (p.Ile713Leu) c.1861A>C (p.Ile621Leu) c.2023A>C (p.Ile675Leu) c.2119A>C (p.Ile707Leu) n.538A>C c.2080A>C (p.Ile694Leu) c.1912A>C (p.Ile638Leu) | gnomAD v4 |
| 21 | g.25891743G>A | CA9987048 | APP | n.2157C>T n.587C>T n.856C>T c.2190C>T (p.Ser730=) c.1965C>T (p.Ser655=) c.1797C>T (p.Ser599=) c.2133C>T (p.Ser711=) c.2136C>T (p.Ser712=) c.1860C>T (p.Ser620=) c.2022C>T (p.Ser674=) c.2118C>T (p.Ser706=) n.537C>T c.2079C>T (p.Ser693=) c.1911C>T (p.Ser637=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.25891743G>C | CA319097554 | APP | n.2157C>G n.587C>G n.856C>G c.2190C>G (p.Ser730=) c.1965C>G (p.Ser655=) c.1797C>G (p.Ser599=) c.2133C>G (p.Ser711=) c.2136C>G (p.Ser712=) c.1860C>G (p.Ser620=) c.2022C>G (p.Ser674=) c.2118C>G (p.Ser706=) n.537C>G c.2079C>G (p.Ser693=) c.1911C>G (p.Ser637=) | dbSNP |
| 21 | g.25891743G= | CA2383551601 | APP | n.2157C= n.587C= n.856C= c.2190C= (p.Ser730=) c.1965C= (p.Ser655=) c.1797C= (p.Ser599=) c.2133C= (p.Ser711=) c.2136C= (p.Ser712=) c.1860C= (p.Ser620=) c.2022C= (p.Ser674=) c.2118C= (p.Ser706=) n.537C= c.2079C= (p.Ser693=) c.1911C= (p.Ser637=) | |
| 21 | g.25891743G>T | CA511685968 | APP | n.2157C>A n.587C>A n.856C>A c.2190C>A (p.Ser730=) c.1965C>A (p.Ser655=) c.1797C>A (p.Ser599=) c.2133C>A (p.Ser711=) c.2136C>A (p.Ser712=) c.1860C>A (p.Ser620=) c.2022C>A (p.Ser674=) c.2118C>A (p.Ser706=) n.537C>A c.2079C>A (p.Ser693=) c.1911C>A (p.Ser637=) | |
| 21 | g.25891744G>A | CA409805460 | APP | n.2156C>T n.586C>T n.855C>T c.2189C>T (p.Ser730Phe) c.1964C>T (p.Ser655Phe) c.1796C>T (p.Ser599Phe) c.2132C>T (p.Ser711Phe) c.2135C>T (p.Ser712Phe) c.1859C>T (p.Ser620Phe) c.2021C>T (p.Ser674Phe) c.2117C>T (p.Ser706Phe) n.536C>T c.2078C>T (p.Ser693Phe) c.1910C>T (p.Ser637Phe) | |
| 21 | g.25891744G>C | CA409805462 | APP | n.2156C>G n.586C>G n.855C>G c.2189C>G (p.Ser730Cys) c.1964C>G (p.Ser655Cys) c.1796C>G (p.Ser599Cys) c.2132C>G (p.Ser711Cys) c.2135C>G (p.Ser712Cys) c.1859C>G (p.Ser620Cys) c.2021C>G (p.Ser674Cys) c.2117C>G (p.Ser706Cys) n.536C>G c.2078C>G (p.Ser693Cys) c.1910C>G (p.Ser637Cys) | |
| 21 | g.25891744G>T | CA409805461 | APP | n.2156C>A n.586C>A n.855C>A c.2189C>A (p.Ser730Tyr) c.1964C>A (p.Ser655Tyr) c.1796C>A (p.Ser599Tyr) c.2132C>A (p.Ser711Tyr) c.2135C>A (p.Ser712Tyr) c.1859C>A (p.Ser620Tyr) c.2021C>A (p.Ser674Tyr) c.2117C>A (p.Ser706Tyr) n.536C>A c.2078C>A (p.Ser693Tyr) c.1910C>A (p.Ser637Tyr) | gnomAD v4 |
| 21 | g.25891745A>C | CA409805463 | APP | n.2155T>G n.585T>G n.854T>G c.2188T>G (p.Ser730Ala) c.1963T>G (p.Ser655Ala) c.1795T>G (p.Ser599Ala) c.2131T>G (p.Ser711Ala) c.2134T>G (p.Ser712Ala) c.1858T>G (p.Ser620Ala) c.2020T>G (p.Ser674Ala) c.2116T>G (p.Ser706Ala) n.535T>G c.2077T>G (p.Ser693Ala) c.1909T>G (p.Ser637Ala) | |
| 21 | g.25891745A>G | CA409805464 | APP | n.2155T>C n.585T>C n.854T>C c.2188T>C (p.Ser730Pro) c.1963T>C (p.Ser655Pro) c.1795T>C (p.Ser599Pro) c.2131T>C (p.Ser711Pro) c.2134T>C (p.Ser712Pro) c.1858T>C (p.Ser620Pro) c.2020T>C (p.Ser674Pro) c.2116T>C (p.Ser706Pro) n.535T>C c.2077T>C (p.Ser693Pro) c.1909T>C (p.Ser637Pro) | |
| 21 | g.25891745A>T | CA409805465 | APP | n.2155T>A n.585T>A n.854T>A c.2188T>A (p.Ser730Thr) c.1963T>A (p.Ser655Thr) c.1795T>A (p.Ser599Thr) c.2131T>A (p.Ser711Thr) c.2134T>A (p.Ser712Thr) c.1858T>A (p.Ser620Thr) c.2020T>A (p.Ser674Thr) c.2116T>A (p.Ser706Thr) n.535T>A c.2077T>A (p.Ser693Thr) c.1909T>A (p.Ser637Thr) | |
| 21 | g.25891746T>A | CA511685971 | APP | n.2154A>T n.584A>T n.853A>T c.2187A>T (p.Thr729=) c.1962A>T (p.Thr654=) c.1794A>T (p.Thr598=) c.2130A>T (p.Thr710=) c.2133A>T (p.Thr711=) c.1857A>T (p.Thr619=) c.2019A>T (p.Thr673=) c.2115A>T (p.Thr705=) n.534A>T c.2076A>T (p.Thr692=) c.1908A>T (p.Thr636=) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.25891746T>C | CA511685969 | APP | n.2154A>G n.584A>G n.853A>G c.2187A>G (p.Thr729=) c.1962A>G (p.Thr654=) c.1794A>G (p.Thr598=) c.2130A>G (p.Thr710=) c.2133A>G (p.Thr711=) c.1857A>G (p.Thr619=) c.2019A>G (p.Thr673=) c.2115A>G (p.Thr705=) n.534A>G c.2076A>G (p.Thr692=) c.1908A>G (p.Thr636=) | |
| 21 | g.25891746T>G | CA511685970 | APP | n.2154A>C n.584A>C n.853A>C c.2187A>C (p.Thr729=) c.1962A>C (p.Thr654=) c.1794A>C (p.Thr598=) c.2130A>C (p.Thr710=) c.2133A>C (p.Thr711=) c.1857A>C (p.Thr619=) c.2019A>C (p.Thr673=) c.2115A>C (p.Thr705=) n.534A>C c.2076A>C (p.Thr692=) c.1908A>C (p.Thr636=) | |
| 21 | g.25891746T= | CA2383551602 | APP | n.2154A= n.584A= n.853A= c.2187A= (p.Thr729=) c.1962A= (p.Thr654=) c.1794A= (p.Thr598=) c.2130A= (p.Thr710=) c.2133A= (p.Thr711=) c.1857A= (p.Thr619=) c.2019A= (p.Thr673=) c.2115A= (p.Thr705=) n.534A= c.2076A= (p.Thr692=) c.1908A= (p.Thr636=) | |
| 21 | g.25891747G>A | CA409805466 | APP | n.2153C>T n.583C>T n.852C>T c.2186C>T (p.Thr729Ile) c.1961C>T (p.Thr654Ile) c.1793C>T (p.Thr598Ile) c.2129C>T (p.Thr710Ile) c.2132C>T (p.Thr711Ile) c.1856C>T (p.Thr619Ile) c.2018C>T (p.Thr673Ile) c.2114C>T (p.Thr705Ile) n.533C>T c.2075C>T (p.Thr692Ile) c.1907C>T (p.Thr636Ile) | gnomAD v4 |
| 21 | g.25891747G>C | CA409805467 | APP | n.2153C>G n.583C>G n.852C>G c.2186C>G (p.Thr729Arg) c.1961C>G (p.Thr654Arg) c.1793C>G (p.Thr598Arg) c.2129C>G (p.Thr710Arg) c.2132C>G (p.Thr711Arg) c.1856C>G (p.Thr619Arg) c.2018C>G (p.Thr673Arg) c.2114C>G (p.Thr705Arg) n.533C>G c.2075C>G (p.Thr692Arg) c.1907C>G (p.Thr636Arg) | |
| 21 | g.25891747G>T | CA409805468 | APP | n.2153C>A n.583C>A n.852C>A c.2186C>A (p.Thr729Lys) c.1961C>A (p.Thr654Lys) c.1793C>A (p.Thr598Lys) c.2129C>A (p.Thr710Lys) c.2132C>A (p.Thr711Lys) c.1856C>A (p.Thr619Lys) c.2018C>A (p.Thr673Lys) c.2114C>A (p.Thr705Lys) n.533C>A c.2075C>A (p.Thr692Lys) c.1907C>A (p.Thr636Lys) | |
| 21 | g.25891748T>A | CA409805469 | APP | n.2152A>T n.582A>T n.851A>T c.2185A>T (p.Thr729Ser) c.1960A>T (p.Thr654Ser) c.1792A>T (p.Thr598Ser) c.2128A>T (p.Thr710Ser) c.2131A>T (p.Thr711Ser) c.1855A>T (p.Thr619Ser) c.2017A>T (p.Thr673Ser) c.2113A>T (p.Thr705Ser) n.532A>T c.2074A>T (p.Thr692Ser) c.1906A>T (p.Thr636Ser) | |
| 21 | g.25891748T>C | CA409805470 | APP | n.2152A>G n.582A>G n.851A>G c.2185A>G (p.Thr729Ala) c.1960A>G (p.Thr654Ala) c.1792A>G (p.Thr598Ala) c.2128A>G (p.Thr710Ala) c.2131A>G (p.Thr711Ala) c.1855A>G (p.Thr619Ala) c.2017A>G (p.Thr673Ala) c.2113A>G (p.Thr705Ala) n.532A>G c.2074A>G (p.Thr692Ala) c.1906A>G (p.Thr636Ala) | COSMIC |
| 21 | g.25891748T>G | CA409805471 | APP | n.2152A>C n.582A>C n.851A>C c.2185A>C (p.Thr729Pro) c.1960A>C (p.Thr654Pro) c.1792A>C (p.Thr598Pro) c.2128A>C (p.Thr710Pro) c.2131A>C (p.Thr711Pro) c.1855A>C (p.Thr619Pro) c.2017A>C (p.Thr673Pro) c.2113A>C (p.Thr705Pro) n.532A>C c.2074A>C (p.Thr692Pro) c.1906A>C (p.Thr636Pro) | |
| 21 | g.25891749G>A | CA511685972 | APP | n.2151C>T n.581C>T n.850C>T c.2184C>T (p.Tyr728=) c.1959C>T (p.Tyr653=) c.1791C>T (p.Tyr597=) c.2127C>T (p.Tyr709=) c.2130C>T (p.Tyr710=) c.1854C>T (p.Tyr618=) c.2016C>T (p.Tyr672=) c.2112C>T (p.Tyr704=) n.531C>T c.2073C>T (p.Tyr691=) c.1905C>T (p.Tyr635=) | |
| 21 | g.25891749G>C | CA409805472 | APP | n.2151C>G n.581C>G n.850C>G c.2184C>G (p.Tyr728Ter) c.1959C>G (p.Tyr653Ter) c.1791C>G (p.Tyr597Ter) c.2127C>G (p.Tyr709Ter) c.2130C>G (p.Tyr710Ter) c.1854C>G (p.Tyr618Ter) c.2016C>G (p.Tyr672Ter) c.2112C>G (p.Tyr704Ter) n.531C>G c.2073C>G (p.Tyr691Ter) c.1905C>G (p.Tyr635Ter) | |
| 21 | g.25891749G>T | CA409805473 | APP | n.2151C>A n.581C>A n.850C>A c.2184C>A (p.Tyr728Ter) c.1959C>A (p.Tyr653Ter) c.1791C>A (p.Tyr597Ter) c.2127C>A (p.Tyr709Ter) c.2130C>A (p.Tyr710Ter) c.1854C>A (p.Tyr618Ter) c.2016C>A (p.Tyr672Ter) c.2112C>A (p.Tyr704Ter) n.531C>A c.2073C>A (p.Tyr691Ter) c.1905C>A (p.Tyr635Ter) | |
| 21 | g.25891750T>A | CA409805474 | APP | n.2150A>T n.580A>T n.849A>T c.2183A>T (p.Tyr728Phe) c.1958A>T (p.Tyr653Phe) c.1790A>T (p.Tyr597Phe) c.2126A>T (p.Tyr709Phe) c.2129A>T (p.Tyr710Phe) c.1853A>T (p.Tyr618Phe) c.2015A>T (p.Tyr672Phe) c.2111A>T (p.Tyr704Phe) n.530A>T c.2072A>T (p.Tyr691Phe) c.1904A>T (p.Tyr635Phe) | |
| 21 | g.25891750T>C | CA409805476 | APP | n.2150A>G n.580A>G n.849A>G c.2183A>G (p.Tyr728Cys) c.1958A>G (p.Tyr653Cys) c.1790A>G (p.Tyr597Cys) c.2126A>G (p.Tyr709Cys) c.2129A>G (p.Tyr710Cys) c.1853A>G (p.Tyr618Cys) c.2015A>G (p.Tyr672Cys) c.2111A>G (p.Tyr704Cys) n.530A>G c.2072A>G (p.Tyr691Cys) c.1904A>G (p.Tyr635Cys) | |
| 21 | g.25891750T>G | CA409805475 | APP | n.2150A>C n.580A>C n.849A>C c.2183A>C (p.Tyr728Ser) c.1958A>C (p.Tyr653Ser) c.1790A>C (p.Tyr597Ser) c.2126A>C (p.Tyr709Ser) c.2129A>C (p.Tyr710Ser) c.1853A>C (p.Tyr618Ser) c.2015A>C (p.Tyr672Ser) c.2111A>C (p.Tyr704Ser) n.530A>C c.2072A>C (p.Tyr691Ser) c.1904A>C (p.Tyr635Ser) | |
| 21 | g.25891751A>C | CA409805477 | APP | n.2149T>G n.579T>G n.848T>G c.2182T>G (p.Tyr728Asp) c.1957T>G (p.Tyr653Asp) c.1789T>G (p.Tyr597Asp) c.2125T>G (p.Tyr709Asp) c.2128T>G (p.Tyr710Asp) c.1852T>G (p.Tyr618Asp) c.2014T>G (p.Tyr672Asp) c.2110T>G (p.Tyr704Asp) n.529T>G c.2071T>G (p.Tyr691Asp) c.1903T>G (p.Tyr635Asp) | |
| 21 | g.25891751A>G | CA409805478 | APP | n.2149T>C n.579T>C n.848T>C c.2182T>C (p.Tyr728His) c.1957T>C (p.Tyr653His) c.1789T>C (p.Tyr597His) c.2125T>C (p.Tyr709His) c.2128T>C (p.Tyr710His) c.1852T>C (p.Tyr618His) c.2014T>C (p.Tyr672His) c.2110T>C (p.Tyr704His) n.529T>C c.2071T>C (p.Tyr691His) c.1903T>C (p.Tyr635His) | |
| 21 | g.25891751A>T | CA409805479 | APP | n.2149T>A n.579T>A n.848T>A c.2182T>A (p.Tyr728Asn) c.1957T>A (p.Tyr653Asn) c.1789T>A (p.Tyr597Asn) c.2125T>A (p.Tyr709Asn) c.2128T>A (p.Tyr710Asn) c.1852T>A (p.Tyr618Asn) c.2014T>A (p.Tyr672Asn) c.2110T>A (p.Tyr704Asn) n.529T>A c.2071T>A (p.Tyr691Asn) c.1903T>A (p.Tyr635Asn) | |
| 21 | g.25891752C>A | CA409805480 | APP | n.2148G>T n.578G>T n.847G>T c.2181G>T (p.Gln727His) c.1956G>T (p.Gln652His) c.1788G>T (p.Gln596His) c.2124G>T (p.Gln708His) c.2127G>T (p.Gln709His) c.1851G>T (p.Gln617His) c.2013G>T (p.Gln671His) c.2109G>T (p.Gln703His) n.528G>T c.2070G>T (p.Gln690His) c.1902G>T (p.Gln634His) | |
| 21 | g.25891752C>G | CA409805481 | APP | n.2148G>C n.578G>C n.847G>C c.2181G>C (p.Gln727His) c.1956G>C (p.Gln652His) c.1788G>C (p.Gln596His) c.2124G>C (p.Gln708His) c.2127G>C (p.Gln709His) c.1851G>C (p.Gln617His) c.2013G>C (p.Gln671His) c.2109G>C (p.Gln703His) n.528G>C c.2070G>C (p.Gln690His) c.1902G>C (p.Gln634His) | |
| 21 | g.25891752C>T | CA511685973 | APP | n.2148G>A n.578G>A n.847G>A c.2181G>A (p.Gln727=) c.1956G>A (p.Gln652=) c.1788G>A (p.Gln596=) c.2124G>A (p.Gln708=) c.2127G>A (p.Gln709=) c.1851G>A (p.Gln617=) c.2013G>A (p.Gln671=) c.2109G>A (p.Gln703=) n.528G>A c.2070G>A (p.Gln690=) c.1902G>A (p.Gln634=) | |
| 21 | g.25891753T>A | CA409805482 | APP | n.2147A>T n.577A>T n.846A>T c.2180A>T (p.Gln727Leu) c.1955A>T (p.Gln652Leu) c.1787A>T (p.Gln596Leu) c.2123A>T (p.Gln708Leu) c.2126A>T (p.Gln709Leu) c.1850A>T (p.Gln617Leu) c.2012A>T (p.Gln671Leu) c.2108A>T (p.Gln703Leu) n.527A>T c.2069A>T (p.Gln690Leu) c.1901A>T (p.Gln634Leu) | COSMIC |
| 21 | g.25891753T>C | CA409805483 | APP | n.2147A>G n.577A>G n.846A>G c.2180A>G (p.Gln727Arg) c.1955A>G (p.Gln652Arg) c.1787A>G (p.Gln596Arg) c.2123A>G (p.Gln708Arg) c.2126A>G (p.Gln709Arg) c.1850A>G (p.Gln617Arg) c.2012A>G (p.Gln671Arg) c.2108A>G (p.Gln703Arg) n.527A>G c.2069A>G (p.Gln690Arg) c.1901A>G (p.Gln634Arg) | |
| 21 | g.25891753T>G | CA409805484 | APP | n.2147A>C n.577A>C n.846A>C c.2180A>C (p.Gln727Pro) c.1955A>C (p.Gln652Pro) c.1787A>C (p.Gln596Pro) c.2123A>C (p.Gln708Pro) c.2126A>C (p.Gln709Pro) c.1850A>C (p.Gln617Pro) c.2012A>C (p.Gln671Pro) c.2108A>C (p.Gln703Pro) n.527A>C c.2069A>C (p.Gln690Pro) c.1901A>C (p.Gln634Pro) | |
| 21 | g.25891754G>A | CA409805485 | APP | n.2146C>T n.576C>T n.845C>T c.2179C>T (p.Gln727Ter) c.1954C>T (p.Gln652Ter) c.1786C>T (p.Gln596Ter) c.2122C>T (p.Gln708Ter) c.2125C>T (p.Gln709Ter) c.1849C>T (p.Gln617Ter) c.2011C>T (p.Gln671Ter) c.2107C>T (p.Gln703Ter) n.526C>T c.2068C>T (p.Gln690Ter) c.1900C>T (p.Gln634Ter) | |
| 21 | g.25891754G>C | CA409805486 | APP | n.2146C>G n.576C>G n.845C>G c.2179C>G (p.Gln727Glu) c.1954C>G (p.Gln652Glu) c.1786C>G (p.Gln596Glu) c.2122C>G (p.Gln708Glu) c.2125C>G (p.Gln709Glu) c.1849C>G (p.Gln617Glu) c.2011C>G (p.Gln671Glu) c.2107C>G (p.Gln703Glu) n.526C>G c.2068C>G (p.Gln690Glu) c.1900C>G (p.Gln634Glu) | |
| 21 | g.25891754G>T | CA409805487 | APP | n.2146C>A n.576C>A n.845C>A c.2179C>A (p.Gln727Lys) c.1954C>A (p.Gln652Lys) c.1786C>A (p.Gln596Lys) c.2122C>A (p.Gln708Lys) c.2125C>A (p.Gln709Lys) c.1849C>A (p.Gln617Lys) c.2011C>A (p.Gln671Lys) c.2107C>A (p.Gln703Lys) n.526C>A c.2068C>A (p.Gln690Lys) c.1900C>A (p.Gln634Lys) | |
| 21 | g.25891755T>A | CA409805488 | APP | n.2145A>T n.575A>T n.844A>T c.2178A>T (p.Lys726Asn) c.1953A>T (p.Lys651Asn) c.1785A>T (p.Lys595Asn) c.2121A>T (p.Lys707Asn) c.2124A>T (p.Lys708Asn) c.1848A>T (p.Lys616Asn) c.2010A>T (p.Lys670Asn) c.2106A>T (p.Lys702Asn) n.525A>T c.2067A>T (p.Lys689Asn) c.1899A>T (p.Lys633Asn) | |
| 21 | g.25891755T>C | CA511685974 | APP | n.2145A>G n.575A>G n.844A>G c.2178A>G (p.Lys726=) c.1953A>G (p.Lys651=) c.1785A>G (p.Lys595=) c.2121A>G (p.Lys707=) c.2124A>G (p.Lys708=) c.1848A>G (p.Lys616=) c.2010A>G (p.Lys670=) c.2106A>G (p.Lys702=) n.525A>G c.2067A>G (p.Lys689=) c.1899A>G (p.Lys633=) | |
| 21 | g.25891755T>G | CA409805489 | APP | n.2145A>C n.575A>C n.844A>C c.2178A>C (p.Lys726Asn) c.1953A>C (p.Lys651Asn) c.1785A>C (p.Lys595Asn) c.2121A>C (p.Lys707Asn) c.2124A>C (p.Lys708Asn) c.1848A>C (p.Lys616Asn) c.2010A>C (p.Lys670Asn) c.2106A>C (p.Lys702Asn) n.525A>C c.2067A>C (p.Lys689Asn) c.1899A>C (p.Lys633Asn) | |
| 21 | g.25891756T>A | CA409805490 | APP | n.2144A>T n.574A>T n.843A>T c.2177A>T (p.Lys726Ile) c.1952A>T (p.Lys651Ile) c.1784A>T (p.Lys595Ile) c.2120A>T (p.Lys707Ile) c.2123A>T (p.Lys708Ile) c.1847A>T (p.Lys616Ile) c.2009A>T (p.Lys670Ile) c.2105A>T (p.Lys702Ile) n.524A>T c.2066A>T (p.Lys689Ile) c.1898A>T (p.Lys633Ile) | |
| 21 | g.25891756T>C | CA409805492 | APP | n.2144A>G n.574A>G n.843A>G c.2177A>G (p.Lys726Arg) c.1952A>G (p.Lys651Arg) c.1784A>G (p.Lys595Arg) c.2120A>G (p.Lys707Arg) c.2123A>G (p.Lys708Arg) c.1847A>G (p.Lys616Arg) c.2009A>G (p.Lys670Arg) c.2105A>G (p.Lys702Arg) n.524A>G c.2066A>G (p.Lys689Arg) c.1898A>G (p.Lys633Arg) | |
| 21 | g.25891756T>G | CA409805491 | APP | n.2144A>C n.574A>C n.843A>C c.2177A>C (p.Lys726Thr) c.1952A>C (p.Lys651Thr) c.1784A>C (p.Lys595Thr) c.2120A>C (p.Lys707Thr) c.2123A>C (p.Lys708Thr) c.1847A>C (p.Lys616Thr) c.2009A>C (p.Lys670Thr) c.2105A>C (p.Lys702Thr) n.524A>C c.2066A>C (p.Lys689Thr) c.1898A>C (p.Lys633Thr) | |
| 21 | g.25891757T>A | CA409805493 | APP | n.2143A>T n.573A>T n.842A>T c.2176A>T (p.Lys726Ter) c.1951A>T (p.Lys651Ter) c.1783A>T (p.Lys595Ter) c.2119A>T (p.Lys707Ter) c.2122A>T (p.Lys708Ter) c.1846A>T (p.Lys616Ter) c.2008A>T (p.Lys670Ter) c.2104A>T (p.Lys702Ter) n.523A>T c.2065A>T (p.Lys689Ter) c.1897A>T (p.Lys633Ter) | |
| 21 | g.25891757T>C | CA409805494 | APP | n.2143A>G n.573A>G n.842A>G c.2176A>G (p.Lys726Glu) c.1951A>G (p.Lys651Glu) c.1783A>G (p.Lys595Glu) c.2119A>G (p.Lys707Glu) c.2122A>G (p.Lys708Glu) c.1846A>G (p.Lys616Glu) c.2008A>G (p.Lys670Glu) c.2104A>G (p.Lys702Glu) n.523A>G c.2065A>G (p.Lys689Glu) c.1897A>G (p.Lys633Glu) | |
| 21 | g.25891757T>G | CA409805495 | APP | n.2143A>C n.573A>C n.842A>C c.2176A>C (p.Lys726Gln) c.1951A>C (p.Lys651Gln) c.1783A>C (p.Lys595Gln) c.2119A>C (p.Lys707Gln) c.2122A>C (p.Lys708Gln) c.1846A>C (p.Lys616Gln) c.2008A>C (p.Lys670Gln) c.2104A>C (p.Lys702Gln) n.523A>C c.2065A>C (p.Lys689Gln) c.1897A>C (p.Lys633Gln) | |
| 21 | g.25891758C>A | CA409805496 | APP | n.2142G>T n.572G>T n.841G>T c.2175G>T (p.Lys725Asn) c.1950G>T (p.Lys650Asn) c.1782G>T (p.Lys594Asn) c.2118G>T (p.Lys706Asn) c.2121G>T (p.Lys707Asn) c.1845G>T (p.Lys615Asn) c.2007G>T (p.Lys669Asn) c.2103G>T (p.Lys701Asn) n.522G>T c.2064G>T (p.Lys688Asn) c.1896G>T (p.Lys632Asn) | |
| 21 | g.25891758C= | CA2383551603 | APP | n.2142G= n.572G= n.841G= c.2175G= (p.Lys725=) c.1950G= (p.Lys650=) c.1782G= (p.Lys594=) c.2118G= (p.Lys706=) c.2121G= (p.Lys707=) c.1845G= (p.Lys615=) c.2007G= (p.Lys669=) c.2103G= (p.Lys701=) n.522G= c.2064G= (p.Lys688=) c.1896G= (p.Lys632=) | |
| 21 | g.25891758C>G | CA409805497 | APP | n.2142G>C n.572G>C n.841G>C c.2175G>C (p.Lys725Asn) c.1950G>C (p.Lys650Asn) c.1782G>C (p.Lys594Asn) c.2118G>C (p.Lys706Asn) c.2121G>C (p.Lys707Asn) c.1845G>C (p.Lys615Asn) c.2007G>C (p.Lys669Asn) c.2103G>C (p.Lys701Asn) n.522G>C c.2064G>C (p.Lys688Asn) c.1896G>C (p.Lys632Asn) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891758C>T | CA511685975 | APP | n.2142G>A n.572G>A n.841G>A c.2175G>A (p.Lys725=) c.1950G>A (p.Lys650=) c.1782G>A (p.Lys594=) c.2118G>A (p.Lys706=) c.2121G>A (p.Lys707=) c.1845G>A (p.Lys615=) c.2007G>A (p.Lys669=) c.2103G>A (p.Lys701=) n.522G>A c.2064G>A (p.Lys688=) c.1896G>A (p.Lys632=) | dbSNP |
| 21 | g.25891759T>A | CA409805498 | APP | n.2141A>T n.571A>T n.840A>T c.2174A>T (p.Lys725Met) c.1949A>T (p.Lys650Met) c.1781A>T (p.Lys594Met) c.2117A>T (p.Lys706Met) c.2120A>T (p.Lys707Met) c.1844A>T (p.Lys615Met) c.2006A>T (p.Lys669Met) c.2102A>T (p.Lys701Met) n.521A>T c.2063A>T (p.Lys688Met) c.1895A>T (p.Lys632Met) | |
| 21 | g.25891759T>C | CA409805499 | APP | n.2141A>G n.571A>G n.840A>G c.2174A>G (p.Lys725Arg) c.1949A>G (p.Lys650Arg) c.1781A>G (p.Lys594Arg) c.2117A>G (p.Lys706Arg) c.2120A>G (p.Lys707Arg) c.1844A>G (p.Lys615Arg) c.2006A>G (p.Lys669Arg) c.2102A>G (p.Lys701Arg) n.521A>G c.2063A>G (p.Lys688Arg) c.1895A>G (p.Lys632Arg) | gnomAD v4 |
| 21 | g.25891759T>G | CA409805500 | APP | n.2141A>C n.571A>C n.840A>C c.2174A>C (p.Lys725Thr) c.1949A>C (p.Lys650Thr) c.1781A>C (p.Lys594Thr) c.2117A>C (p.Lys706Thr) c.2120A>C (p.Lys707Thr) c.1844A>C (p.Lys615Thr) c.2006A>C (p.Lys669Thr) c.2102A>C (p.Lys701Thr) n.521A>C c.2063A>C (p.Lys688Thr) c.1895A>C (p.Lys632Thr) | |
| 21 | g.25891760T>A | CA409805501 | APP | n.2140A>T n.570A>T n.839A>T c.2173A>T (p.Lys725Ter) c.1948A>T (p.Lys650Ter) c.1780A>T (p.Lys594Ter) c.2116A>T (p.Lys706Ter) c.2119A>T (p.Lys707Ter) c.1843A>T (p.Lys615Ter) c.2005A>T (p.Lys669Ter) c.2101A>T (p.Lys701Ter) n.520A>T c.2062A>T (p.Lys688Ter) c.1894A>T (p.Lys632Ter) | |
| 21 | g.25891760T>C | CA409805502 | APP | n.2140A>G n.570A>G n.839A>G c.2173A>G (p.Lys725Glu) c.1948A>G (p.Lys650Glu) c.1780A>G (p.Lys594Glu) c.2116A>G (p.Lys706Glu) c.2119A>G (p.Lys707Glu) c.1843A>G (p.Lys615Glu) c.2005A>G (p.Lys669Glu) c.2101A>G (p.Lys701Glu) n.520A>G c.2062A>G (p.Lys688Glu) c.1894A>G (p.Lys632Glu) | |
| 21 | g.25891760T>G | CA409805503 | APP | n.2140A>C n.570A>C n.839A>C c.2173A>C (p.Lys725Gln) c.1948A>C (p.Lys650Gln) c.1780A>C (p.Lys594Gln) c.2116A>C (p.Lys706Gln) c.2119A>C (p.Lys707Gln) c.1843A>C (p.Lys615Gln) c.2005A>C (p.Lys669Gln) c.2101A>C (p.Lys701Gln) n.520A>C c.2062A>C (p.Lys688Gln) c.1894A>C (p.Lys632Gln) | |
| 21 | g.25891761C>A | CA409805504 | APP | n.2139G>T n.569G>T n.838G>T c.2172G>T (p.Lys724Asn) c.1947G>T (p.Lys649Asn) c.1779G>T (p.Lys593Asn) c.2115G>T (p.Lys705Asn) c.2118G>T (p.Lys706Asn) c.1842G>T (p.Lys614Asn) c.2004G>T (p.Lys668Asn) c.2100G>T (p.Lys700Asn) n.519G>T c.2061G>T (p.Lys687Asn) c.1893G>T (p.Lys631Asn) | gnomAD v4 |
| 21 | g.25891761C= | CA2383551604 | APP | n.2139G= n.569G= n.838G= c.2172G= (p.Lys724=) c.1947G= (p.Lys649=) c.1779G= (p.Lys593=) c.2115G= (p.Lys705=) c.2118G= (p.Lys706=) c.1842G= (p.Lys614=) c.2004G= (p.Lys668=) c.2100G= (p.Lys700=) n.519G= c.2061G= (p.Lys687=) c.1893G= (p.Lys631=) | |
| 21 | g.25891761C>G | CA225514 | APP | n.2139G>C n.569G>C n.838G>C c.2172G>C (p.Lys724Asn) c.1947G>C (p.Lys649Asn) c.1779G>C (p.Lys593Asn) c.2115G>C (p.Lys705Asn) c.2118G>C (p.Lys706Asn) c.1842G>C (p.Lys614Asn) c.2004G>C (p.Lys668Asn) c.2100G>C (p.Lys700Asn) n.519G>C c.2061G>C (p.Lys687Asn) c.1893G>C (p.Lys631Asn) | ClinVar dbSNP |
| 21 | g.25891761C>T | CA511685976 | APP | n.2139G>A n.569G>A n.838G>A c.2172G>A (p.Lys724=) c.1947G>A (p.Lys649=) c.1779G>A (p.Lys593=) c.2115G>A (p.Lys705=) c.2118G>A (p.Lys706=) c.1842G>A (p.Lys614=) c.2004G>A (p.Lys668=) c.2100G>A (p.Lys700=) n.519G>A c.2061G>A (p.Lys687=) c.1893G>A (p.Lys631=) | dbSNP |
| 21 | g.25891762T>A | CA409805505 | APP | n.2138A>T n.568A>T n.837A>T c.2171A>T (p.Lys724Met) c.1946A>T (p.Lys649Met) c.1778A>T (p.Lys593Met) c.2114A>T (p.Lys705Met) c.2117A>T (p.Lys706Met) c.1841A>T (p.Lys614Met) c.2003A>T (p.Lys668Met) c.2099A>T (p.Lys700Met) n.518A>T c.2060A>T (p.Lys687Met) c.1892A>T (p.Lys631Met) | |
| 21 | g.25891762T>C | CA409805507 | APP | n.2138A>G n.568A>G n.837A>G c.2171A>G (p.Lys724Arg) c.1946A>G (p.Lys649Arg) c.1778A>G (p.Lys593Arg) c.2114A>G (p.Lys705Arg) c.2117A>G (p.Lys706Arg) c.1841A>G (p.Lys614Arg) c.2003A>G (p.Lys668Arg) c.2099A>G (p.Lys700Arg) n.518A>G c.2060A>G (p.Lys687Arg) c.1892A>G (p.Lys631Arg) | |
| 21 | g.25891762T>G | CA409805506 | APP | n.2138A>C n.568A>C n.837A>C c.2171A>C (p.Lys724Thr) c.1946A>C (p.Lys649Thr) c.1778A>C (p.Lys593Thr) c.2114A>C (p.Lys705Thr) c.2117A>C (p.Lys706Thr) c.1841A>C (p.Lys614Thr) c.2003A>C (p.Lys668Thr) c.2099A>C (p.Lys700Thr) n.518A>C c.2060A>C (p.Lys687Thr) c.1892A>C (p.Lys631Thr) | |
| 21 | g.25891763T>A | CA409805508 | APP | n.2137A>T n.567A>T n.836A>T c.2170A>T (p.Lys724Ter) c.1945A>T (p.Lys649Ter) c.1777A>T (p.Lys593Ter) c.2113A>T (p.Lys705Ter) c.2116A>T (p.Lys706Ter) c.1840A>T (p.Lys614Ter) c.2002A>T (p.Lys668Ter) c.2098A>T (p.Lys700Ter) n.517A>T c.2059A>T (p.Lys687Ter) c.1891A>T (p.Lys631Ter) | |
| 21 | g.25891763T>C | CA409805509 | APP | n.2137A>G n.567A>G n.836A>G c.2170A>G (p.Lys724Glu) c.1945A>G (p.Lys649Glu) c.1777A>G (p.Lys593Glu) c.2113A>G (p.Lys705Glu) c.2116A>G (p.Lys706Glu) c.1840A>G (p.Lys614Glu) c.2002A>G (p.Lys668Glu) c.2098A>G (p.Lys700Glu) n.517A>G c.2059A>G (p.Lys687Glu) c.1891A>G (p.Lys631Glu) | |
| 21 | g.25891763T>G | CA409805510 | APP | n.2137A>C n.567A>C n.836A>C c.2170A>C (p.Lys724Gln) c.1945A>C (p.Lys649Gln) c.1777A>C (p.Lys593Gln) c.2113A>C (p.Lys705Gln) c.2116A>C (p.Lys706Gln) c.1840A>C (p.Lys614Gln) c.2002A>C (p.Lys668Gln) c.2098A>C (p.Lys700Gln) n.517A>C c.2059A>C (p.Lys687Gln) c.1891A>C (p.Lys631Gln) | |
| 21 | g.25891764C>A | CA511685977 | APP | n.2136G>T n.566G>T n.835G>T c.2169G>T (p.Leu723=) c.1944G>T (p.Leu648=) c.1776G>T (p.Leu592=) c.2112G>T (p.Leu704=) c.2115G>T (p.Leu705=) c.1839G>T (p.Leu613=) c.2001G>T (p.Leu667=) c.2097G>T (p.Leu699=) n.516G>T c.2058G>T (p.Leu686=) c.1890G>T (p.Leu630=) | |
| 21 | g.25891764C>G | CA511685978 | APP | n.2136G>C n.566G>C n.835G>C c.2169G>C (p.Leu723=) c.1944G>C (p.Leu648=) c.1776G>C (p.Leu592=) c.2112G>C (p.Leu704=) c.2115G>C (p.Leu705=) c.1839G>C (p.Leu613=) c.2001G>C (p.Leu667=) c.2097G>C (p.Leu699=) n.516G>C c.2058G>C (p.Leu686=) c.1890G>C (p.Leu630=) | gnomAD v4 |
| 21 | g.25891764C>T | CA511685979 | APP | n.2136G>A n.566G>A n.835G>A c.2169G>A (p.Leu723=) c.1944G>A (p.Leu648=) c.1776G>A (p.Leu592=) c.2112G>A (p.Leu704=) c.2115G>A (p.Leu705=) c.1839G>A (p.Leu613=) c.2001G>A (p.Leu667=) c.2097G>A (p.Leu699=) n.516G>A c.2058G>A (p.Leu686=) c.1890G>A (p.Leu630=) | gnomAD v4 |
| 21 | g.25891766_25891768del | CA2654122406 | APP | n.2134_2136del n.564_566del n.833_835del c.2167_2169del (p.Leu723del) c.1942_1944del (p.Leu648del) c.1774_1776del (p.Leu592del) c.2110_2112del (p.Leu704del) c.2113_2115del (p.Leu705del) c.1837_1839del (p.Leu613del) c.1999_2001del (p.Leu667del) c.2095_2097del (p.Leu699del) n.514_516del c.2056_2058del (p.Leu686del) c.1888_1890del (p.Leu630del) | gnomAD v4 |
| 21 | g.25891765A= | CA2383551605 | APP | n.2135T= n.565T= n.834T= c.2168T= (p.Leu723=) c.1943T= (p.Leu648=) c.1775T= (p.Leu592=) c.2111T= (p.Leu704=) c.2114T= (p.Leu705=) c.1838T= (p.Leu613=) c.2000T= (p.Leu667=) c.2096T= (p.Leu699=) n.515T= c.2057T= (p.Leu686=) c.1889T= (p.Leu630=) | |
| 21 | g.25891765A>C | CA409805511 | APP | n.2135T>G n.565T>G n.834T>G c.2168T>G (p.Leu723Arg) c.1943T>G (p.Leu648Arg) c.1775T>G (p.Leu592Arg) c.2111T>G (p.Leu704Arg) c.2114T>G (p.Leu705Arg) c.1838T>G (p.Leu613Arg) c.2000T>G (p.Leu667Arg) c.2096T>G (p.Leu699Arg) n.515T>G c.2057T>G (p.Leu686Arg) c.1889T>G (p.Leu630Arg) | |
| 21 | g.25891765A>G | CA225513 | APP | n.2135T>C n.565T>C n.834T>C c.2168T>C (p.Leu723Pro) c.1943T>C (p.Leu648Pro) c.1775T>C (p.Leu592Pro) c.2111T>C (p.Leu704Pro) c.2114T>C (p.Leu705Pro) c.1838T>C (p.Leu613Pro) c.2000T>C (p.Leu667Pro) c.2096T>C (p.Leu699Pro) n.515T>C c.2057T>C (p.Leu686Pro) c.1889T>C (p.Leu630Pro) | ClinVar dbSNP gnomAD v4 |
| 21 | g.25891765A>T | CA409805512 | APP | n.2135T>A n.565T>A n.834T>A c.2168T>A (p.Leu723Gln) c.1943T>A (p.Leu648Gln) c.1775T>A (p.Leu592Gln) c.2111T>A (p.Leu704Gln) c.2114T>A (p.Leu705Gln) c.1838T>A (p.Leu613Gln) c.2000T>A (p.Leu667Gln) c.2096T>A (p.Leu699Gln) n.515T>A c.2057T>A (p.Leu686Gln) c.1889T>A (p.Leu630Gln) | |
| 21 | g.25891766G>A | CA511685980 | APP | n.2134C>T n.564C>T n.833C>T c.2167C>T (p.Leu723=) c.1942C>T (p.Leu648=) c.1774C>T (p.Leu592=) c.2110C>T (p.Leu704=) c.2113C>T (p.Leu705=) c.1837C>T (p.Leu613=) c.1999C>T (p.Leu667=) c.2095C>T (p.Leu699=) n.514C>T c.2056C>T (p.Leu686=) c.1888C>T (p.Leu630=) | gnomAD v4 |
| 21 | g.25891766G>C | CA409805513 | APP | n.2134C>G n.564C>G n.833C>G c.2167C>G (p.Leu723Val) c.1942C>G (p.Leu648Val) c.1774C>G (p.Leu592Val) c.2110C>G (p.Leu704Val) c.2113C>G (p.Leu705Val) c.1837C>G (p.Leu613Val) c.1999C>G (p.Leu667Val) c.2095C>G (p.Leu699Val) n.514C>G c.2056C>G (p.Leu686Val) c.1888C>G (p.Leu630Val) | |
| 21 | g.25891766G>T | CA409805514 | APP | n.2134C>A n.564C>A n.833C>A c.2167C>A (p.Leu723Met) c.1942C>A (p.Leu648Met) c.1774C>A (p.Leu592Met) c.2110C>A (p.Leu704Met) c.2113C>A (p.Leu705Met) c.1837C>A (p.Leu613Met) c.1999C>A (p.Leu667Met) c.2095C>A (p.Leu699Met) n.514C>A c.2056C>A (p.Leu686Met) c.1888C>A (p.Leu630Met) | |
| 21 | g.25891767C>A | CA409805515 | APP | n.2133G>T n.563G>T n.832G>T c.2166G>T (p.Met722Ile) c.1941G>T (p.Met647Ile) c.1773G>T (p.Met591Ile) c.2109G>T (p.Met703Ile) c.2112G>T (p.Met704Ile) c.1836G>T (p.Met612Ile) c.1998G>T (p.Met666Ile) c.2094G>T (p.Met698Ile) n.513G>T c.2055G>T (p.Met685Ile) c.1887G>T (p.Met629Ile) | |
| 21 | g.25891767C>G | CA409805516 | APP | n.2133G>C n.563G>C n.832G>C c.2166G>C (p.Met722Ile) c.1941G>C (p.Met647Ile) c.1773G>C (p.Met591Ile) c.2109G>C (p.Met703Ile) c.2112G>C (p.Met704Ile) c.1836G>C (p.Met612Ile) c.1998G>C (p.Met666Ile) c.2094G>C (p.Met698Ile) n.513G>C c.2055G>C (p.Met685Ile) c.1887G>C (p.Met629Ile) | |
| 21 | g.25891767C>T | CA409805517 | APP | n.2133G>A n.563G>A n.832G>A c.2166G>A (p.Met722Ile) c.1941G>A (p.Met647Ile) c.1773G>A (p.Met591Ile) c.2109G>A (p.Met703Ile) c.2112G>A (p.Met704Ile) c.1836G>A (p.Met612Ile) c.1998G>A (p.Met666Ile) c.2094G>A (p.Met698Ile) n.513G>A c.2055G>A (p.Met685Ile) c.1887G>A (p.Met629Ile) | |
| 21 | g.25891768A>C | CA409805520 | APP | n.2132T>G n.562T>G n.831T>G c.2165T>G (p.Met722Arg) c.1940T>G (p.Met647Arg) c.1772T>G (p.Met591Arg) c.2108T>G (p.Met703Arg) c.2111T>G (p.Met704Arg) c.1835T>G (p.Met612Arg) c.1997T>G (p.Met666Arg) c.2093T>G (p.Met698Arg) n.512T>G c.2054T>G (p.Met685Arg) c.1886T>G (p.Met629Arg) | gnomAD v4 |
| 21 | g.25891768A>G | CA409805518 | APP | n.2132T>C n.562T>C n.831T>C c.2165T>C (p.Met722Thr) c.1940T>C (p.Met647Thr) c.1772T>C (p.Met591Thr) c.2108T>C (p.Met703Thr) c.2111T>C (p.Met704Thr) c.1835T>C (p.Met612Thr) c.1997T>C (p.Met666Thr) c.2093T>C (p.Met698Thr) n.512T>C c.2054T>C (p.Met685Thr) c.1886T>C (p.Met629Thr) | |
| 21 | g.25891768A>T | CA409805519 | APP | n.2132T>A n.562T>A n.831T>A c.2165T>A (p.Met722Lys) c.1940T>A (p.Met647Lys) c.1772T>A (p.Met591Lys) c.2108T>A (p.Met703Lys) c.2111T>A (p.Met704Lys) c.1835T>A (p.Met612Lys) c.1997T>A (p.Met666Lys) c.2093T>A (p.Met698Lys) n.512T>A c.2054T>A (p.Met685Lys) c.1886T>A (p.Met629Lys) | |
| 21 | g.25891769T>A | CA409805521 | APP | n.2131A>T n.561A>T n.830A>T c.2164A>T (p.Met722Leu) c.1939A>T (p.Met647Leu) c.1771A>T (p.Met591Leu) c.2107A>T (p.Met703Leu) c.2110A>T (p.Met704Leu) c.1834A>T (p.Met612Leu) c.1996A>T (p.Met666Leu) c.2092A>T (p.Met698Leu) n.511A>T c.2053A>T (p.Met685Leu) c.1885A>T (p.Met629Leu) | |
| 21 | g.25891769T>C | CA409805522 | APP | n.2131A>G n.561A>G n.830A>G c.2164A>G (p.Met722Val) c.1939A>G (p.Met647Val) c.1771A>G (p.Met591Val) c.2107A>G (p.Met703Val) c.2110A>G (p.Met704Val) c.1834A>G (p.Met612Val) c.1996A>G (p.Met666Val) c.2092A>G (p.Met698Val) n.511A>G c.2053A>G (p.Met685Val) c.1885A>G (p.Met629Val) | |
| 21 | g.25891769T>G | CA409805523 | APP | n.2131A>C n.561A>C n.830A>C c.2164A>C (p.Met722Leu) c.1939A>C (p.Met647Leu) c.1771A>C (p.Met591Leu) c.2107A>C (p.Met703Leu) c.2110A>C (p.Met704Leu) c.1834A>C (p.Met612Leu) c.1996A>C (p.Met666Leu) c.2092A>C (p.Met698Leu) n.511A>C c.2053A>C (p.Met685Leu) c.1885A>C (p.Met629Leu) | |
| 21 | g.25891770C>A | CA511685983 | APP | n.2130G>T n.560G>T n.829G>T c.2163G>T (p.Val721=) c.1938G>T (p.Val646=) c.1770G>T (p.Val590=) c.2106G>T (p.Val702=) c.2109G>T (p.Val703=) c.1833G>T (p.Val611=) c.1995G>T (p.Val665=) c.2091G>T (p.Val697=) n.510G>T c.2052G>T (p.Val684=) c.1884G>T (p.Val628=) | |
| 21 | g.25891770C>G | CA511685982 | APP | n.2130G>C n.560G>C n.829G>C c.2163G>C (p.Val721=) c.1938G>C (p.Val646=) c.1770G>C (p.Val590=) c.2106G>C (p.Val702=) c.2109G>C (p.Val703=) c.1833G>C (p.Val611=) c.1995G>C (p.Val665=) c.2091G>C (p.Val697=) n.510G>C c.2052G>C (p.Val684=) c.1884G>C (p.Val628=) | |
| 21 | g.25891770C>T | CA511685984 | APP | n.2130G>A n.560G>A n.829G>A c.2163G>A (p.Val721=) c.1938G>A (p.Val646=) c.1770G>A (p.Val590=) c.2106G>A (p.Val702=) c.2109G>A (p.Val703=) c.1833G>A (p.Val611=) c.1995G>A (p.Val665=) c.2091G>A (p.Val697=) n.510G>A c.2052G>A (p.Val684=) c.1884G>A (p.Val628=) | |
| 21 | g.25891771A>C | CA409805524 | APP | n.2129T>G n.559T>G n.828T>G c.2162T>G (p.Val721Gly) c.1937T>G (p.Val646Gly) c.1769T>G (p.Val590Gly) c.2105T>G (p.Val702Gly) c.2108T>G (p.Val703Gly) c.1832T>G (p.Val611Gly) c.1994T>G (p.Val665Gly) c.2090T>G (p.Val697Gly) n.509T>G c.2051T>G (p.Val684Gly) c.1883T>G (p.Val628Gly) | |
| 21 | g.25891771A>G | CA409805525 | APP | n.2129T>C n.559T>C n.828T>C c.2162T>C (p.Val721Ala) c.1937T>C (p.Val646Ala) c.1769T>C (p.Val590Ala) c.2105T>C (p.Val702Ala) c.2108T>C (p.Val703Ala) c.1832T>C (p.Val611Ala) c.1994T>C (p.Val665Ala) c.2090T>C (p.Val697Ala) n.509T>C c.2051T>C (p.Val684Ala) c.1883T>C (p.Val628Ala) | |
| 21 | g.25891771A>T | CA409805526 | APP | n.2129T>A n.559T>A n.828T>A c.2162T>A (p.Val721Glu) c.1937T>A (p.Val646Glu) c.1769T>A (p.Val590Glu) c.2105T>A (p.Val702Glu) c.2108T>A (p.Val703Glu) c.1832T>A (p.Val611Glu) c.1994T>A (p.Val665Glu) c.2090T>A (p.Val697Glu) n.509T>A c.2051T>A (p.Val684Glu) c.1883T>A (p.Val628Glu) | |
| 21 | g.25891772C>A | CA409805527 | APP | n.2128G>T n.558G>T n.827G>T c.2161G>T (p.Val721Leu) c.1936G>T (p.Val646Leu) c.1768G>T (p.Val590Leu) c.2104G>T (p.Val702Leu) c.2107G>T (p.Val703Leu) c.1831G>T (p.Val611Leu) c.1993G>T (p.Val665Leu) c.2089G>T (p.Val697Leu) n.508G>T c.2050G>T (p.Val684Leu) c.1882G>T (p.Val628Leu) | |
| 21 | g.25891772C= | CA2383551606 | APP | n.2128G= n.558G= n.827G= c.2161G= (p.Val721=) c.1936G= (p.Val646=) c.1768G= (p.Val590=) c.2104G= (p.Val702=) c.2107G= (p.Val703=) c.1831G= (p.Val611=) c.1993G= (p.Val665=) c.2089G= (p.Val697=) n.508G= c.2050G= (p.Val684=) c.1882G= (p.Val628=) | |
| 21 | g.25891772C>G | CA409805528 | APP | n.2128G>C n.558G>C n.827G>C c.2161G>C (p.Val721Leu) c.1936G>C (p.Val646Leu) c.1768G>C (p.Val590Leu) c.2104G>C (p.Val702Leu) c.2107G>C (p.Val703Leu) c.1831G>C (p.Val611Leu) c.1993G>C (p.Val665Leu) c.2089G>C (p.Val697Leu) n.508G>C c.2050G>C (p.Val684Leu) c.1882G>C (p.Val628Leu) | |
| 21 | g.25891772C>T | CA409805529 | APP | n.2128G>A n.558G>A n.827G>A c.2161G>A (p.Val721Met) c.1936G>A (p.Val646Met) c.1768G>A (p.Val590Met) c.2104G>A (p.Val702Met) c.2107G>A (p.Val703Met) c.1831G>A (p.Val611Met) c.1993G>A (p.Val665Met) c.2089G>A (p.Val697Met) n.508G>A c.2050G>A (p.Val684Met) c.1882G>A (p.Val628Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.25891773C>A | CA409805530 | APP | n.2127G>T n.557G>T n.826G>T c.2160G>T (p.Leu720Phe) c.1935G>T (p.Leu645Phe) c.1767G>T (p.Leu589Phe) c.2103G>T (p.Leu701Phe) c.2106G>T (p.Leu702Phe) c.1830G>T (p.Leu610Phe) c.1992G>T (p.Leu664Phe) c.2088G>T (p.Leu696Phe) n.507G>T c.2049G>T (p.Leu683Phe) c.1881G>T (p.Leu627Phe) | |
| 21 | g.25891773C>G | CA409805531 | APP | n.2127G>C n.557G>C n.826G>C c.2160G>C (p.Leu720Phe) c.1935G>C (p.Leu645Phe) c.1767G>C (p.Leu589Phe) c.2103G>C (p.Leu701Phe) c.2106G>C (p.Leu702Phe) c.1830G>C (p.Leu610Phe) c.1992G>C (p.Leu664Phe) c.2088G>C (p.Leu696Phe) n.507G>C c.2049G>C (p.Leu683Phe) c.1881G>C (p.Leu627Phe) | |
| 21 | g.25891773C>T | CA511685985 | APP | n.2127G>A n.557G>A n.826G>A c.2160G>A (p.Leu720=) c.1935G>A (p.Leu645=) c.1767G>A (p.Leu589=) c.2103G>A (p.Leu701=) c.2106G>A (p.Leu702=) c.1830G>A (p.Leu610=) c.1992G>A (p.Leu664=) c.2088G>A (p.Leu696=) n.507G>A c.2049G>A (p.Leu683=) c.1881G>A (p.Leu627=) | |
| 21 | g.25891774A>C | CA409805533 | APP | n.2126T>G n.556T>G n.825T>G c.2159T>G (p.Leu720Trp) c.1934T>G (p.Leu645Trp) c.1766T>G (p.Leu589Trp) c.2102T>G (p.Leu701Trp) c.2105T>G (p.Leu702Trp) c.1829T>G (p.Leu610Trp) c.1991T>G (p.Leu664Trp) c.2087T>G (p.Leu696Trp) n.506T>G c.2048T>G (p.Leu683Trp) c.1880T>G (p.Leu627Trp) | |
| 21 | g.25891774A>G | CA409805534 | APP | n.2126T>C n.556T>C n.825T>C c.2159T>C (p.Leu720Ser) c.1934T>C (p.Leu645Ser) c.1766T>C (p.Leu589Ser) c.2102T>C (p.Leu701Ser) c.2105T>C (p.Leu702Ser) c.1829T>C (p.Leu610Ser) c.1991T>C (p.Leu664Ser) c.2087T>C (p.Leu696Ser) n.506T>C c.2048T>C (p.Leu683Ser) c.1880T>C (p.Leu627Ser) | |
| 21 | g.25891774A>T | CA409805532 | APP | n.2126T>A n.556T>A n.825T>A c.2159T>A (p.Leu720Ter) c.1934T>A (p.Leu645Ter) c.1766T>A (p.Leu589Ter) c.2102T>A (p.Leu701Ter) c.2105T>A (p.Leu702Ter) c.1829T>A (p.Leu610Ter) c.1991T>A (p.Leu664Ter) c.2087T>A (p.Leu696Ter) n.506T>A c.2048T>A (p.Leu683Ter) c.1880T>A (p.Leu627Ter) | gnomAD v4 |
| 21 | g.25891775A>C | CA409805535 | APP | n.2125T>G n.555T>G n.824T>G c.2158T>G (p.Leu720Val) c.1933T>G (p.Leu645Val) c.1765T>G (p.Leu589Val) c.2101T>G (p.Leu701Val) c.2104T>G (p.Leu702Val) c.1828T>G (p.Leu610Val) c.1990T>G (p.Leu664Val) c.2086T>G (p.Leu696Val) n.505T>G c.2047T>G (p.Leu683Val) c.1879T>G (p.Leu627Val) | |
| 21 | g.25891775A>G | CA511685986 | APP | n.2125T>C n.555T>C n.824T>C c.2158T>C (p.Leu720=) c.1933T>C (p.Leu645=) c.1765T>C (p.Leu589=) c.2101T>C (p.Leu701=) c.2104T>C (p.Leu702=) c.1828T>C (p.Leu610=) c.1990T>C (p.Leu664=) c.2086T>C (p.Leu696=) n.505T>C c.2047T>C (p.Leu683=) c.1879T>C (p.Leu627=) | |
| 21 | g.25891775A>T | CA409805536 | APP | n.2125T>A n.555T>A n.824T>A c.2158T>A (p.Leu720Met) c.1933T>A (p.Leu645Met) c.1765T>A (p.Leu589Met) c.2101T>A (p.Leu701Met) c.2104T>A (p.Leu702Met) c.1828T>A (p.Leu610Met) c.1990T>A (p.Leu664Met) c.2086T>A (p.Leu696Met) n.505T>A c.2047T>A (p.Leu683Met) c.1879T>A (p.Leu627Met) | gnomAD v4 |
| 21 | g.25891776G>A | CA511685987 | APP | n.2124C>T n.554C>T n.823C>T c.2157C>T (p.Thr719=) c.1932C>T (p.Thr644=) c.1764C>T (p.Thr588=) c.2100C>T (p.Thr700=) c.2103C>T (p.Thr701=) c.1827C>T (p.Thr609=) c.1989C>T (p.Thr663=) c.2085C>T (p.Thr695=) n.504C>T c.2046C>T (p.Thr682=) c.1878C>T (p.Thr626=) | gnomAD v4 |
| 21 | g.25891776G>C | CA511685988 | APP | n.2124C>G n.554C>G n.823C>G c.2157C>G (p.Thr719=) c.1932C>G (p.Thr644=) c.1764C>G (p.Thr588=) c.2100C>G (p.Thr700=) c.2103C>G (p.Thr701=) c.1827C>G (p.Thr609=) c.1989C>G (p.Thr663=) c.2085C>G (p.Thr695=) n.504C>G c.2046C>G (p.Thr682=) c.1878C>G (p.Thr626=) | |
| 21 | g.25891776G>T | CA511685989 | APP | n.2124C>A n.554C>A n.823C>A c.2157C>A (p.Thr719=) c.1932C>A (p.Thr644=) c.1764C>A (p.Thr588=) c.2100C>A (p.Thr700=) c.2103C>A (p.Thr701=) c.1827C>A (p.Thr609=) c.1989C>A (p.Thr663=) c.2085C>A (p.Thr695=) n.504C>A c.2046C>A (p.Thr682=) c.1878C>A (p.Thr626=) | |
| 21 | g.25891777G>A | CA409805537 | APP | n.2123C>T n.553C>T n.822C>T c.2156C>T (p.Thr719Ile) c.1931C>T (p.Thr644Ile) c.1763C>T (p.Thr588Ile) c.2099C>T (p.Thr700Ile) c.2102C>T (p.Thr701Ile) c.1826C>T (p.Thr609Ile) c.1988C>T (p.Thr663Ile) c.2084C>T (p.Thr695Ile) n.503C>T c.2045C>T (p.Thr682Ile) c.1877C>T (p.Thr626Ile) | dbSNP |
| 21 | g.25891777G>C | CA409805538 | APP | n.2123C>G n.553C>G n.822C>G c.2156C>G (p.Thr719Ser) c.1931C>G (p.Thr644Ser) c.1763C>G (p.Thr588Ser) c.2099C>G (p.Thr700Ser) c.2102C>G (p.Thr701Ser) c.1826C>G (p.Thr609Ser) c.1988C>G (p.Thr663Ser) c.2084C>G (p.Thr695Ser) n.503C>G c.2045C>G (p.Thr682Ser) c.1877C>G (p.Thr626Ser) | |
| 21 | g.25891777G= | CA2383551607 | APP | n.2123C= n.553C= n.822C= c.2156C= (p.Thr719=) c.1931C= (p.Thr644=) c.1763C= (p.Thr588=) c.2099C= (p.Thr700=) c.2102C= (p.Thr701=) c.1826C= (p.Thr609=) c.1988C= (p.Thr663=) c.2084C= (p.Thr695=) n.503C= c.2045C= (p.Thr682=) c.1877C= (p.Thr626=) | |
| 21 | g.25891777G>T | CA409805539 | APP | n.2123C>A n.553C>A n.822C>A c.2156C>A (p.Thr719Asn) c.1931C>A (p.Thr644Asn) c.1763C>A (p.Thr588Asn) c.2099C>A (p.Thr700Asn) c.2102C>A (p.Thr701Asn) c.1826C>A (p.Thr609Asn) c.1988C>A (p.Thr663Asn) c.2084C>A (p.Thr695Asn) n.503C>A c.2045C>A (p.Thr682Asn) c.1877C>A (p.Thr626Asn) | |
| 21 | g.25891778T>A | CA409805540 | APP | n.2122A>T n.552A>T n.821A>T c.2155A>T (p.Thr719Ser) c.1930A>T (p.Thr644Ser) c.1762A>T (p.Thr588Ser) c.2098A>T (p.Thr700Ser) c.2101A>T (p.Thr701Ser) c.1825A>T (p.Thr609Ser) c.1987A>T (p.Thr663Ser) c.2083A>T (p.Thr695Ser) n.502A>T c.2044A>T (p.Thr682Ser) c.1876A>T (p.Thr626Ser) | |
| 21 | g.25891778T>C | CA409805541 | APP | n.2122A>G n.552A>G n.821A>G c.2155A>G (p.Thr719Ala) c.1930A>G (p.Thr644Ala) c.1762A>G (p.Thr588Ala) c.2098A>G (p.Thr700Ala) c.2101A>G (p.Thr701Ala) c.1825A>G (p.Thr609Ala) c.1987A>G (p.Thr663Ala) c.2083A>G (p.Thr695Ala) n.502A>G c.2044A>G (p.Thr682Ala) c.1876A>G (p.Thr626Ala) | |
| 21 | g.25891778T>G | CA409805542 | APP | n.2122A>C n.552A>C n.821A>C c.2155A>C (p.Thr719Pro) c.1930A>C (p.Thr644Pro) c.1762A>C (p.Thr588Pro) c.2098A>C (p.Thr700Pro) c.2101A>C (p.Thr701Pro) c.1825A>C (p.Thr609Pro) c.1987A>C (p.Thr663Pro) c.2083A>C (p.Thr695Pro) n.502A>C c.2044A>C (p.Thr682Pro) c.1876A>C (p.Thr626Pro) | ClinVar dbSNP |
| 21 | g.25891779G>A | CA511685992 | APP | n.2121C>T n.551C>T n.820C>T c.2154C>T (p.Ile718=) c.1929C>T (p.Ile643=) c.1761C>T (p.Ile587=) c.2097C>T (p.Ile699=) c.2100C>T (p.Ile700=) c.1824C>T (p.Ile608=) c.1986C>T (p.Ile662=) c.2082C>T (p.Ile694=) n.501C>T c.2043C>T (p.Ile681=) c.1875C>T (p.Ile625=) | |
| 21 | g.25891779G>C | CA409805543 | APP | n.2121C>G n.551C>G n.820C>G c.2154C>G (p.Ile718Met) c.1929C>G (p.Ile643Met) c.1761C>G (p.Ile587Met) c.2097C>G (p.Ile699Met) c.2100C>G (p.Ile700Met) c.1824C>G (p.Ile608Met) c.1986C>G (p.Ile662Met) c.2082C>G (p.Ile694Met) n.501C>G c.2043C>G (p.Ile681Met) c.1875C>G (p.Ile625Met) | |
| 21 | g.25891779G>T | CA511685991 | APP | n.2121C>A n.551C>A n.820C>A c.2154C>A (p.Ile718=) c.1929C>A (p.Ile643=) c.1761C>A (p.Ile587=) c.2097C>A (p.Ile699=) c.2100C>A (p.Ile700=) c.1824C>A (p.Ile608=) c.1986C>A (p.Ile662=) c.2082C>A (p.Ile694=) n.501C>A c.2043C>A (p.Ile681=) c.1875C>A (p.Ile625=) | |
| 21 | g.25891780A>C | CA409805544 | APP | n.2120T>G n.550T>G n.819T>G c.2153T>G (p.Ile718Ser) c.1928T>G (p.Ile643Ser) c.1760T>G (p.Ile587Ser) c.2096T>G (p.Ile699Ser) c.2099T>G (p.Ile700Ser) c.1823T>G (p.Ile608Ser) c.1985T>G (p.Ile662Ser) c.2081T>G (p.Ile694Ser) n.500T>G c.2042T>G (p.Ile681Ser) c.1874T>G (p.Ile625Ser) | |
| 21 | g.25891780A>G | CA409805545 | APP | n.2120T>C n.550T>C n.819T>C c.2153T>C (p.Ile718Thr) c.1928T>C (p.Ile643Thr) c.1760T>C (p.Ile587Thr) c.2096T>C (p.Ile699Thr) c.2099T>C (p.Ile700Thr) c.1823T>C (p.Ile608Thr) c.1985T>C (p.Ile662Thr) c.2081T>C (p.Ile694Thr) n.500T>C c.2042T>C (p.Ile681Thr) c.1874T>C (p.Ile625Thr) | |
| 21 | g.25891780A>T | CA409805546 | APP | n.2120T>A n.550T>A n.819T>A c.2153T>A (p.Ile718Asn) c.1928T>A (p.Ile643Asn) c.1760T>A (p.Ile587Asn) c.2096T>A (p.Ile699Asn) c.2099T>A (p.Ile700Asn) c.1823T>A (p.Ile608Asn) c.1985T>A (p.Ile662Asn) c.2081T>A (p.Ile694Asn) n.500T>A c.2042T>A (p.Ile681Asn) c.1874T>A (p.Ile625Asn) |