| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.6877851T>A | CA370230968 | DEFB1 | c.7A>T (p.Thr3Ser) | |
| 8 | g.6877851T>C | CA370230970 | DEFB1 | c.7A>G (p.Thr3Ala) | |
| 8 | g.6877851T>G | CA370230969 | DEFB1 | c.7A>C (p.Thr3Pro) | |
| 8 | g.6877852T>A | CA370230972 | DEFB1 | c.6A>T (p.Arg2Ser) | |
| 8 | g.6877852T>C | CA459186593 | DEFB1 | c.6A>G (p.Arg2=) | |
| 8 | g.6877852T>G | CA370230973 | DEFB1 | c.6A>C (p.Arg2Ser) | |
| 8 | g.6877853C>A | CA370230975 | DEFB1 | c.5G>T (p.Arg2Ile) | gnomAD v4 |
| 8 | g.6877853C= | CA1761188630 | DEFB1 | c.5G= (p.Arg2=) | |
| 8 | g.6877853C>G | CA370230976 | DEFB1 | c.5G>C (p.Arg2Thr) | dbSNP gnomAD v4 |
| 8 | g.6877853C>T | CA171486274 | DEFB1 | c.5G>A (p.Arg2Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877854T>A | CA370230978 | DEFB1 | c.4A>T (p.Arg2Ter) | |
| 8 | g.6877854T>C | CA370230980 | DEFB1 | c.4A>G (p.Arg2Gly) | |
| 8 | g.6877854T>G | CA459186606 | DEFB1 | c.4A>C (p.Arg2=) | |
| 8 | g.6877855C>A | CA370230981 | DEFB1 | c.3G>T (p.Met1Ile) | |
| 8 | g.6877855C= | CA1761188631 | DEFB1 | c.3G= (p.Met1=) | |
| 8 | g.6877855C>G | CA370230983 | DEFB1 | c.3G>C (p.Met1Ile) | |
| 8 | g.6877855C>T | CA4612890 | DEFB1 | c.3G>A (p.Met1Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877856A>C | CA370230985 | DEFB1 | c.2T>G (p.Met1Arg) | gnomAD v4 |
| 8 | g.6877856A>G | CA370230987 | DEFB1 | c.2T>C (p.Met1Thr) | |
| 8 | g.6877856A>T | CA370230989 | DEFB1 | c.2T>A (p.Met1Lys) | |
| 8 | g.6877857T>A | CA370230990 | DEFB1 | c.1A>T (p.Met1Leu) | |
| 8 | g.6877857T>C | CA370230993 | DEFB1 | c.1A>G (p.Met1Val) | |
| 8 | g.6877857T>G | CA370230992 | DEFB1 | c.1A>C (p.Met1Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6877858G>A | CA171486287 | DEFB1 | c.-1C>T (n.-1C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.6877858G>C | CA2579088548 | DEFB1 | c.-1C>G (n.-1C>G) | gnomAD v4 |
| 8 | g.6877858G= | CA1761188632 | DEFB1 | c.-1C= (n.-1C=) | |
| 8 | g.6877859G>T | CA2686023163 | DEFB1 | c.-2C>A (n.-2C>A) | gnomAD v4 |
| 8 | g.6877860C>A | CA2686023164 | DEFB1 | c.-3G>T (n.-3G>T) | gnomAD v4 |
| 8 | g.6877860C= | CA1761188633 | DEFB1 | c.-3G= (n.-3G=) | |
| 8 | g.6877860C>T | CA4612891 | DEFB1 | c.-3G>A (n.-3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877860_6877861delinsCG | CA1761188634 | DEFB1 | c.-4_-3delinsCG (n.-4_-3delinsCG) | |
| 8 | g.6877861del | CA579664798 | DEFB1 | c.-4del (n.-4del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877861G>A | CA4612892 | DEFB1 | c.-4C>T (n.-4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877861G>C | CA4612894 | DEFB1 | c.-4C>G (n.-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877861G= | CA1761188635 | DEFB1 | c.-4C= (n.-4C=) | |
| 8 | g.6877861G>T | CA4612893 | DEFB1 | c.-4C>A (n.-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877862A= | CA1761188636 | DEFB1 | c.-5T= (n.-5T=) | |
| 8 | g.6877862A>C | CA579664800 | DEFB1 | c.-5T>G (n.-5T>G) | dbSNP gnomAD v2 |
| 8 | g.6877862A>G | CA171486340 | DEFB1 | c.-5T>C (n.-5T>C) | dbSNP gnomAD v4 |
| 8 | g.6877863C= | CA1761188637 | DEFB1 | c.-6G= (n.-6G=) | |
| 8 | g.6877863C>G | CA2686023165 | DEFB1 | c.-6G>C (n.-6G>C) | gnomAD v4 |
| 8 | g.6877863C>T | CA579664801 | DEFB1 | c.-6G>A (n.-6G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.6877864T>A | CA579664803 | DEFB1 | c.-7A>T (n.-7A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877864T= | CA1761188638 | DEFB1 | c.-7A= (n.-7A=) | |
| 8 | g.6877865G>A | CA4612895 | DEFB1 | c.-8C>T (n.-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.6877865G= | CA1761188639 | DEFB1 | c.-8C= (n.-8C=) | |
| 8 | g.6877866G>A | CA4612896 | DEFB1 | c.-9C>T (n.-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.6877866G>C | CA2686023167 | DEFB1 | c.-9C>G (n.-9C>G) | gnomAD v4 |
| 8 | g.6877866G= | CA1761188640 | DEFB1 | c.-9C= (n.-9C=) | |
| 8 | g.6877866G>T | CA2686023166 | DEFB1 | c.-9C>A (n.-9C>A) | gnomAD v4 |