Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.8003474G>A | CA397943538 | GUCY2D | c.427G>A (p.Ala143Thr) | gnomAD v4 |
17 | g.8003474G>C | CA397943534 | GUCY2D | c.427G>C (p.Ala143Pro) | |
17 | g.8003474G= | CA2246053418 | GUCY2D | c.427G= (p.Ala143=) | |
17 | g.8003474G>T | CA397943536 | GUCY2D | c.427G>T (p.Ala143Ser) | dbSNP gnomAD v4 |
17 | g.8003478_8003540del | CA2695224288 | GUCY2D | c.431_493del (p.Gly144_Ala164del) | |
17 | g.8003475C>A | CA397943539 | GUCY2D | c.428C>A (p.Ala143Asp) | gnomAD v4 |
17 | g.8003475C>G | CA397943542 | GUCY2D | c.428C>G (p.Ala143Gly) | gnomAD v4 |
17 | g.8003475C>T | CA397943544 | GUCY2D | c.428C>T (p.Ala143Val) | gnomAD v4 |
17 | g.8003475_8003476dup | CA624867828 | GUCY2D | c.428_429dup (p.Gly144ProfsTer23) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003476C>A | CA497952782 | GUCY2D | c.429C>A (p.Ala143=) | gnomAD v4 |
17 | g.8003476C= | CA2246053422 | GUCY2D | c.429C= (p.Ala143=) | |
17 | g.8003476C>G | CA497952784 | GUCY2D | c.429C>G (p.Ala143=) | |
17 | g.8003476C>T | CA287523188 | GUCY2D | c.429C>T (p.Ala143=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003477G>A | CA8365495 | GUCY2D | c.430G>A (p.Gly144Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003477G>C | CA397943547 | GUCY2D | c.430G>C (p.Gly144Arg) | |
17 | g.8003477G= | CA2246053424 | GUCY2D | c.430G= (p.Gly144=) | |
17 | g.8003477G>T | CA397943549 | GUCY2D | c.430G>T (p.Gly144Trp) | |
17 | g.8003478G>A | CA397943552 | GUCY2D | c.431G>A (p.Gly144Glu) | gnomAD v4 |
17 | g.8003478G>C | CA397943554 | GUCY2D | c.431G>C (p.Gly144Ala) | |
17 | g.8003478G= | CA2246053426 | GUCY2D | c.431G= (p.Gly144=) | |
17 | g.8003478G>T | CA397943557 | GUCY2D | c.431G>T (p.Gly144Val) | ClinVar dbSNP |
17 | g.8003479G>A | CA497952788 | GUCY2D | c.432G>A (p.Gly144=) | |
17 | g.8003479G>C | CA497952789 | GUCY2D | c.432G>C (p.Gly144=) | gnomAD v4 |
17 | g.8003479G>T | CA497952790 | GUCY2D | c.432G>T (p.Gly144=) | |
17 | g.8003480A>C | CA397943560 | GUCY2D | c.433A>C (p.Ile145Leu) | |
17 | g.8003480A>G | CA397943562 | GUCY2D | c.433A>G (p.Ile145Val) | |
17 | g.8003480A>T | CA397943565 | GUCY2D | c.433A>T (p.Ile145Phe) | |
17 | g.8003481T>A | CA397943572 | GUCY2D | c.434T>A (p.Ile145Asn) | |
17 | g.8003481T>C | CA397943577 | GUCY2D | c.434T>C (p.Ile145Thr) | |
17 | g.8003481T>G | CA397943575 | GUCY2D | c.434T>G (p.Ile145Ser) | |
17 | g.8003482C>A | CA287523200 | GUCY2D | c.435C>A (p.Ile145=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003482C= | CA2246053429 | GUCY2D | c.435C= (p.Ile145=) | |
17 | g.8003482C>G | CA397943580 | GUCY2D | c.435C>G (p.Ile145Met) | |
17 | g.8003482C>T | CA497952793 | GUCY2D | c.435C>T (p.Ile145=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003483G>A | CA397943582 | GUCY2D | c.436G>A (p.Ala146Thr) | gnomAD v4 |
17 | g.8003483G>C | CA397943584 | GUCY2D | c.436G>C (p.Ala146Pro) | |
17 | g.8003483G>T | CA397943586 | GUCY2D | c.436G>T (p.Ala146Ser) | |
17 | g.8003484C>A | CA397943589 | GUCY2D | c.437C>A (p.Ala146Glu) | gnomAD v4 |
17 | g.8003484C>G | CA397943591 | GUCY2D | c.437C>G (p.Ala146Gly) | |
17 | g.8003484C>T | CA397943593 | GUCY2D | c.437C>T (p.Ala146Val) | |
17 | g.8003485G>A | CA8365496 | GUCY2D | c.438G>A (p.Ala146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003485G>C | CA497952794 | GUCY2D | c.438G>C (p.Ala146=) | gnomAD v4 |
17 | g.8003485G= | CA2246053432 | GUCY2D | c.438G= (p.Ala146=) | |
17 | g.8003485G>T | CA287523211 | GUCY2D | c.438G>T (p.Ala146=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003486C>A | CA397943598 | GUCY2D | c.439C>A (p.Leu147Met) | gnomAD v4 |
17 | g.8003486C>G | CA397943600 | GUCY2D | c.439C>G (p.Leu147Val) | |
17 | g.8003486C>T | CA497952796 | GUCY2D | c.439C>T (p.Leu147=) | gnomAD v4 |
17 | g.8003487T>A | CA397943607 | GUCY2D | c.440T>A (p.Leu147Gln) | |
17 | g.8003487T>C | CA397943605 | GUCY2D | c.440T>C (p.Leu147Pro) | gnomAD v4 |
17 | g.8003487T>G | CA397943603 | GUCY2D | c.440T>G (p.Leu147Arg) |