Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.6877846G>A | CA4612888 | DEFB1 | c.12C>T (p.Ser4=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.6877846G>C | CA459186535 | DEFB1 | c.12C>G (p.Ser4=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877846G= | CA1761188627 | DEFB1 | c.12C= (p.Ser4=) | |
8 | g.6877846G>T | CA459186540 | DEFB1 | c.12C>A (p.Ser4=) | |
8 | g.6877847G>A | CA370230954 | DEFB1 | c.11C>T (p.Ser4Phe) | gnomAD v4 |
8 | g.6877847G>C | CA370230955 | DEFB1 | c.11C>G (p.Ser4Cys) | |
8 | g.6877847G>T | CA370230957 | DEFB1 | c.11C>A (p.Ser4Tyr) | |
8 | g.6877848A>C | CA370230959 | DEFB1 | c.10T>G (p.Ser4Ala) | |
8 | g.6877848A>G | CA370230961 | DEFB1 | c.10T>C (p.Ser4Pro) | |
8 | g.6877848A>T | CA370230962 | DEFB1 | c.10T>A (p.Ser4Thr) | |
8 | g.6877849A= | CA1761188628 | DEFB1 | c.9T= (p.Thr3=) | |
8 | g.6877849A>C | CA459186559 | DEFB1 | c.9T>G (p.Thr3=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.6877849A>G | CA459186566 | DEFB1 | c.9T>C (p.Thr3=) | gnomAD v4 |
8 | g.6877849A>T | CA459186563 | DEFB1 | c.9T>A (p.Thr3=) | |
8 | g.6877850G>A | CA4612889 | DEFB1 | c.8C>T (p.Thr3Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.6877850G>C | CA370230964 | DEFB1 | c.8C>G (p.Thr3Ser) | |
8 | g.6877850G= | CA1761188629 | DEFB1 | c.8C= (p.Thr3=) | |
8 | g.6877850G>T | CA370230966 | DEFB1 | c.8C>A (p.Thr3Asn) | COSMIC |
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 |