Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.172448354G>A | CA2706544 | GHSR | c.60C>T (p.Asp20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448354G>C | CA355516805 | GHSR | c.60C>G (p.Asp20Glu) | |
3 | g.172448354G= | CA1420511903 | GHSR | c.60C= (p.Asp20=) | |
3 | g.172448354G>T | CA355516806 | GHSR | c.60C>A (p.Asp20Glu) | gnomAD v4 |
3 | g.172448355T>A | CA355516809 | GHSR | c.59A>T (p.Asp20Val) | |
3 | g.172448355T>C | CA355516811 | GHSR | c.59A>G (p.Asp20Gly) | |
3 | g.172448355T>G | CA355516807 | GHSR | c.59A>C (p.Asp20Ala) | |
3 | g.172448356C>A | CA2706545 | GHSR | c.58G>T (p.Asp20Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448356C= | CA1420511904 | GHSR | c.58G= (p.Asp20=) | |
3 | g.172448356C>G | CA355516814 | GHSR | c.58G>C (p.Asp20His) | |
3 | g.172448356C>T | CA355516816 | GHSR | c.58G>A (p.Asp20Asn) | |
3 | g.172448357C>A | CA436965729 | GHSR | c.57G>T (p.Leu19=) | |
3 | g.172448357C= | CA1420511905 | GHSR | c.57G= (p.Leu19=) | |
3 | g.172448357C>G | CA436965730 | GHSR | c.57G>C (p.Leu19=) | |
3 | g.172448357C>T | CA436965731 | GHSR | c.57G>A (p.Leu19=) | dbSNP |
3 | g.172448358A= | CA1420511906 | GHSR | c.56T= (p.Leu19=) | |
3 | g.172448358A>C | CA2706546 | GHSR | c.56T>G (p.Leu19Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.172448358A>G | CA355516818 | GHSR | c.56T>C (p.Leu19Pro) | |
3 | g.172448358A>T | CA87786418 | GHSR | c.56T>A (p.Leu19Gln) | dbSNP gnomAD v4 |
3 | g.172448359G>A | CA436965732 | GHSR | c.55C>T (p.Leu19=) | |
3 | g.172448359G>C | CA355516821 | GHSR | c.55C>G (p.Leu19Val) | |
3 | g.172448359G= | CA1420511907 | GHSR | c.55C= (p.Leu19=) | |
3 | g.172448359G>T | CA355516823 | GHSR | c.55C>A (p.Leu19Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448359_172448360delinsCT | CA2580069087 | GHSR | c.54_55delinsAG (p.Asp18_Leu19delinsGluVal) | ClinVar |
3 | g.172448360G>A | CA436965733 | GHSR | c.54C>T (p.Asp18=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448360G>C | CA355516825 | GHSR | c.54C>G (p.Asp18Glu) | |
3 | g.172448360G= | CA1420511908 | GHSR | c.54C= (p.Asp18=) | |
3 | g.172448360G>T | CA355516827 | GHSR | c.54C>A (p.Asp18Glu) | gnomAD v4 |
3 | g.172448361T>A | CA355516829 | GHSR | c.53A>T (p.Asp18Val) | |
3 | g.172448361T>C | CA355516830 | GHSR | c.53A>G (p.Asp18Gly) | |
3 | g.172448361T>G | CA355516832 | GHSR | c.53A>C (p.Asp18Ala) | |
3 | g.172448362C>A | CA2706547 | GHSR | c.52G>T (p.Asp18Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.172448362C= | CA1420511909 | GHSR | c.52G= (p.Asp18=) | |
3 | g.172448362C>G | CA355516835 | GHSR | c.52G>C (p.Asp18His) | gnomAD v4 |
3 | g.172448362C>T | CA2706548 | GHSR | c.52G>A (p.Asp18Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.172448363G>A | CA436965738 | GHSR | c.51C>T (p.Ala17=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448363G>C | CA436965739 | GHSR | c.51C>G (p.Ala17=) | gnomAD v4 |
3 | g.172448363G= | CA1420511910 | GHSR | c.51C= (p.Ala17=) | |
3 | g.172448363G>T | CA436965740 | GHSR | c.51C>A (p.Ala17=) | |
3 | g.172448364G>A | CA355516837 | GHSR | c.50C>T (p.Ala17Val) | gnomAD v4 |
3 | g.172448364G>C | CA87786448 | GHSR | c.50C>G (p.Ala17Gly) | dbSNP |
3 | g.172448364G= | CA1420511911 | GHSR | c.50C= (p.Ala17=) | |
3 | g.172448364G>T | CA355516839 | GHSR | c.50C>A (p.Ala17Asp) | gnomAD v4 |
3 | g.172448365C>A | CA355516841 | GHSR | c.49G>T (p.Ala17Ser) | |
3 | g.172448365C= | CA1420511912 | GHSR | c.49G= (p.Ala17=) | |
3 | g.172448365C>G | CA355516842 | GHSR | c.49G>C (p.Ala17Pro) | |
3 | g.172448365C>T | CA355516843 | GHSR | c.49G>A (p.Ala17Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.172448366C>A | CA436965742 | GHSR | c.48G>T (p.Leu16=) | |
3 | g.172448366C>G | CA436965743 | GHSR | c.48G>C (p.Leu16=) | |
3 | g.172448366C>T | CA436965744 | GHSR | c.48G>A (p.Leu16=) |