| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8012166_8012167delinsAC | CA2246113547 | GUCY2D | c.1772_1773delinsAC (p.Asn591=) | |
| 17 | g.8012167del | CA251244 | GUCY2D | c.1773del (p.Asn591LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8012167C>A | CA397951240 | GUCY2D | c.1773C>A (p.Asn591Lys) | |
| 17 | g.8012167C= | CA2246113555 | GUCY2D | c.1773C= (p.Asn591=) | |
| 17 | g.8012167C>G | CA397951241 | GUCY2D | c.1773C>G (p.Asn591Lys) | |
| 17 | g.8012167C>T | CA8365894 | GUCY2D | c.1773C>T (p.Asn591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.8012168G>A | CA397951245 | GUCY2D | c.1774G>A (p.Val592Met) | ClinVar dbSNP gnomAD v4 |
| 17 | g.8012168G>C | CA397951248 | GUCY2D | c.1774G>C (p.Val592Leu) | |
| 17 | g.8012168G= | CA2246113561 | GUCY2D | c.1774G= (p.Val592=) | |
| 17 | g.8012168G>T | CA8365895 | GUCY2D | c.1774G>T (p.Val592Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8012169T>A | CA397951252 | GUCY2D | c.1775T>A (p.Val592Glu) | |
| 17 | g.8012169T>C | CA397951254 | GUCY2D | c.1775T>C (p.Val592Ala) | |
| 17 | g.8012169T>G | CA397951255 | GUCY2D | c.1775T>G (p.Val592Gly) | |
| 17 | g.8012170G>A | CA497953012 | GUCY2D | c.1776G>A (p.Val592=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8012170G>C | CA8365896 | GUCY2D | c.1776G>C (p.Val592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8012170G= | CA2246113566 | GUCY2D | c.1776G= (p.Val592=) | |
| 17 | g.8012170G>T | CA497953013 | GUCY2D | c.1776G>T (p.Val592=) | |
| 17 | g.8012171G>A | CA397951261 | GUCY2D | c.1777G>A (p.Ala593Thr) | |
| 17 | g.8012171G>C | CA397951258 | GUCY2D | c.1777G>C (p.Ala593Pro) | |
| 17 | g.8012171G= | CA2246113574 | GUCY2D | c.1777G= (p.Ala593=) | |
| 17 | g.8012171G>T | CA8365897 | GUCY2D | c.1777G>T (p.Ala593Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8012172C>A | CA397951262 | GUCY2D | c.1778C>A (p.Ala593Asp) | |
| 17 | g.8012172C= | CA2246113584 | GUCY2D | c.1778C= (p.Ala593=) | |
| 17 | g.8012172C>G | CA397951264 | GUCY2D | c.1778C>G (p.Ala593Gly) | |
| 17 | g.8012172C>T | CA397951266 | GUCY2D | c.1778C>T (p.Ala593Val) | dbSNP gnomAD v4 |
| 17 | g.8012173C>A | CA497953019 | GUCY2D | c.1779C>A (p.Ala593=) | |
| 17 | g.8012173C= | CA2246113585 | GUCY2D | c.1779C= (p.Ala593=) | |
| 17 | g.8012173C>G | CA497953020 | GUCY2D | c.1779C>G (p.Ala593=) | dbSNP |
| 17 | g.8012173C>T | CA497953022 | GUCY2D | c.1779C>T (p.Ala593=) | ClinVar dbSNP |
| 17 | g.8012174C>A | CA397951268 | GUCY2D | c.1780C>A (p.Leu594Ile) | |
| 17 | g.8012174C>G | CA397951270 | GUCY2D | c.1780C>G (p.Leu594Val) | |
| 17 | g.8012174C>T | CA397951272 | GUCY2D | c.1780C>T (p.Leu594Phe) | ClinVar gnomAD v4 |
| 17 | g.8012174_8012177del | CA2635949707 | GUCY2D | c.1780_1783del (p.Leu594ThrfsTer?) | ClinVar gnomAD v4 |
| 17 | g.8012175T>A | CA397951274 | GUCY2D | c.1781T>A (p.Leu594His) | ClinVar |
| 17 | g.8012175T>C | CA397951276 | GUCY2D | c.1781T>C (p.Leu594Pro) | gnomAD v4 |
| 17 | g.8012175T>G | CA397951278 | GUCY2D | c.1781T>G (p.Leu594Arg) | |
| 17 | g.8012176C>A | CA497953028 | GUCY2D | c.1782C>A (p.Leu594=) | |
| 17 | g.8012176C>G | CA497953030 | GUCY2D | c.1782C>G (p.Leu594=) | gnomAD v4 |
| 17 | g.8012176C>T | CA497953027 | GUCY2D | c.1782C>T (p.Leu594=) | |
| 17 | g.8012178_8012181del | CA2740095238 | GUCY2D | c.1784_1787del (p.Tyr595TrpfsTer?) | ClinVar |
| 17 | g.8012177T>A | CA397951280 | GUCY2D | c.1783T>A (p.Tyr595Asn) | |
| 17 | g.8012177T>C | CA397951282 | GUCY2D | c.1783T>C (p.Tyr595His) | gnomAD v4 |
| 17 | g.8012177T>G | CA397951284 | GUCY2D | c.1783T>G (p.Tyr595Asp) | |
| 17 | g.8012178A>C | CA397951288 | GUCY2D | c.1784A>C (p.Tyr595Ser) | |
| 17 | g.8012178A>G | CA397951290 | GUCY2D | c.1784A>G (p.Tyr595Cys) | |
| 17 | g.8012178A>T | CA397951286 | GUCY2D | c.1784A>T (p.Tyr595Phe) | |
| 17 | g.8012179C>A | CA397951292 | GUCY2D | c.1785C>A (p.Tyr595Ter) | gnomAD v4 |
| 17 | g.8012179C= | CA2246113587 | GUCY2D | c.1785C= (p.Tyr595=) | |
| 17 | g.8012179C>G | CA397951294 | GUCY2D | c.1785C>G (p.Tyr595Ter) | |
| 17 | g.8012179C>T | CA287530839 | GUCY2D | c.1785C>T (p.Tyr595=) | dbSNP gnomAD v2 gnomAD v4 |