| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6870578del | CA2686022872 | DEFB1 | c.*106del (n.*106del) | gnomAD v4 |
| 8 | g.6870576T>G | CA2686022873 | DEFB1 | c.*105A>C (n.*105A>C) | gnomAD v4 |
| 8 | g.6870577T>C | CA2686022874 | DEFB1 | c.*104A>G (n.*104A>G) | gnomAD v4 |
| 8 | g.6870577T>G | CA171472714 | DEFB1 | c.*104A>C (n.*104A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870577T= | CA1761183388 | DEFB1 | c.*104A= (n.*104A=) | |
| 8 | g.6870578T>C | CA1761183390 | DEFB1 | c.*103A>G (n.*103A>G) | dbSNP |
| 8 | g.6870578T= | CA1761183389 | DEFB1 | c.*103A= (n.*103A=) | |
| 8 | g.6870579G>T | CA2686022875 | DEFB1 | c.*102C>A (n.*102C>A) | gnomAD v4 |
| 8 | g.6870580G>A | CA854600440 | DEFB1 | c.*101C>T (n.*101C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870580G>C | CA2686022876 | DEFB1 | c.*101C>G (n.*101C>G) | gnomAD v4 |
| 8 | g.6870580G= | CA1761183392 | DEFB1 | c.*101C= (n.*101C=) | |
| 8 | g.6870580G>T | CA2686022877 | DEFB1 | c.*101C>A (n.*101C>A) | gnomAD v4 |
| 8 | g.6870580_6870581delinsGC | CA1761183391 | DEFB1 | c.*100_*101delinsGC (n.*100_*101delinsGC) | |
| 8 | g.6870581C>A | CA171472721 | DEFB1 | c.*100G>T (n.*100G>T) | dbSNP gnomAD v4 |
| 8 | g.6870581C= | CA1761183393 | DEFB1 | c.*100G= (n.*100G=) | |
| 8 | g.6870581C>G | CA2686022878 | DEFB1 | c.*100G>C (n.*100G>C) | gnomAD v4 |
| 8 | g.6870581C>T | CA171472726 | DEFB1 | c.*100G>A (n.*100G>A) | dbSNP gnomAD v4 |
| 8 | g.6870583del | CA854600441 | DEFB1 | c.*100del (n.*100del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870582C>A | CA2686022880 | DEFB1 | c.*99G>T (n.*99G>T) | gnomAD v4 |
| 8 | g.6870582C= | CA1761183394 | DEFB1 | c.*99G= (n.*99G=) | |
| 8 | g.6870582C>G | CA1761183395 | DEFB1 | c.*99G>C (n.*99G>C) | dbSNP gnomAD v4 |
| 8 | g.6870582C>T | CA2686022879 | DEFB1 | c.*99G>A (n.*99G>A) | gnomAD v4 |
| 8 | g.6870583C>A | CA2686022881 | DEFB1 | c.*98G>T (n.*98G>T) | gnomAD v4 |
| 8 | g.6870583C= | CA1761183396 | DEFB1 | c.*98G= (n.*98G=) | |
| 8 | g.6870583C>G | CA854600443 | DEFB1 | c.*98G>C (n.*98G>C) | dbSNP gnomAD v4 |
| 8 | g.6870583C>T | CA2686022882 | DEFB1 | c.*98G>A (n.*98G>A) | gnomAD v4 |
| 8 | g.6870584A>T | CA2686022883 | DEFB1 | c.*97T>A (n.*97T>A) | gnomAD v4 |
| 8 | g.6870585A= | CA1761183397 | DEFB1 | c.*96T= (n.*96T=) | |
| 8 | g.6870585A>C | CA1761183398 | DEFB1 | c.*96T>G (n.*96T>G) | dbSNP gnomAD v4 |
| 8 | g.6870585A>G | CA171472736 | DEFB1 | c.*96T>C (n.*96T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6870587G>A | CA854600447 | DEFB1 | c.*94C>T (n.*94C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870587G= | CA1761183399 | DEFB1 | c.*94C= (n.*94C=) | |
| 8 | g.6870587G>T | CA2686022884 | DEFB1 | c.*94C>A (n.*94C>A) | gnomAD v4 |
| 8 | g.6870588G>A | CA1110228340 | DEFB1 | c.*93C>T (n.*93C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870588G>C | CA2523782043 | DEFB1 | c.*93C>G (n.*93C>G) | gnomAD v4 |
| 8 | g.6870588G= | CA1761183400 | DEFB1 | c.*93C= (n.*93C=) | |
| 8 | g.6870589A>C | CA2686022885 | DEFB1 | c.*92T>G (n.*92T>G) | gnomAD v4 |
| 8 | g.6870590G>A | CA2686022886 | DEFB1 | c.*91C>T (n.*91C>T) | gnomAD v4 |
| 8 | g.6870590G>C | CA2686022887 | DEFB1 | c.*91C>G (n.*91C>G) | gnomAD v4 |
| 8 | g.6870590G= | CA1761183401 | DEFB1 | c.*91C= (n.*91C=) | |
| 8 | g.6870590G>T | CA171472788 | DEFB1 | c.*91C>A (n.*91C>A) | dbSNP gnomAD v4 |
| 8 | g.6870591G>A | CA171472806 | DEFB1 | c.*90C>T (n.*90C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6870591G= | CA1761183402 | DEFB1 | c.*90C= (n.*90C=) | |
| 8 | g.6870591G>T | CA2591890011 | DEFB1 | c.*90C>A (n.*90C>A) | gnomAD v3 gnomAD v4 |
| 8 | g.6870592T>C | CA1761183404 | DEFB1 | c.*89A>G (n.*89A>G) | dbSNP gnomAD v4 |
| 8 | g.6870592T= | CA1761183403 | DEFB1 | c.*89A= (n.*89A=) | |
| 8 | g.6870594_6870595dup | CA2591890012 | DEFB1 | c.*88_*89dup (n.*88_*89dup) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6870593A>T | CA2579088504 | DEFB1 | c.*88T>A (n.*88T>A) | |
| 8 | g.6870594T>A | CA2580794836 | DEFB1 | c.*87A>T (n.*87A>T) | |
| 8 | g.6870594T>C | CA171472814 | DEFB1 | c.*87A>G (n.*87A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |