17 | g.8012132_8012146del | CA2576160304 | GUCY2D | c.1750-12_1752del
| ClinVar |
17 | g.8012144C>A | CA397951132 | GUCY2D | c.1750C>A (p.Leu584Ile)
| gnomAD v4 |
17 | g.8012144C= | CA2246113417 | GUCY2D | c.1750C= (p.Leu584=)
| |
17 | g.8012144C>G | CA397951134 | GUCY2D | c.1750C>G (p.Leu584Val)
| ClinVar |
17 | g.8012144C>T | CA397951136 | GUCY2D | c.1750C>T (p.Leu584Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012145T>A | CA397951143 | GUCY2D | c.1751T>A (p.Leu584His)
| |
17 | g.8012145T>C | CA397951139 | GUCY2D | c.1751T>C (p.Leu584Pro)
| |
17 | g.8012145T>G | CA397951142 | GUCY2D | c.1751T>G (p.Leu584Arg)
| |
17 | g.8012146C>A | CA497952971 | GUCY2D | c.1752C>A (p.Leu584=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012146C= | CA2246113418 | GUCY2D | c.1752C= (p.Leu584=)
| |
17 | g.8012146C>G | CA497952972 | GUCY2D | c.1752C>G (p.Leu584=)
| |
17 | g.8012146C>T | CA8365889 | GUCY2D | c.1752C>T (p.Leu584=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012147del | CA2635949704 | GUCY2D | c.1753del (p.Gln585ArgfsTer?)
| gnomAD v4 |
17 | g.8012147C>A | CA397951148 | GUCY2D | c.1753C>A (p.Gln585Lys)
| |
17 | g.8012147C= | CA2246113424 | GUCY2D | c.1753C= (p.Gln585=)
| |
17 | g.8012147C>G | CA397951150 | GUCY2D | c.1753C>G (p.Gln585Glu)
| |
17 | g.8012147C>T | CA8365890 | GUCY2D | c.1753C>T (p.Gln585Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012148A>C | CA397951155 | GUCY2D | c.1754A>C (p.Gln585Pro)
| |
17 | g.8012148A>G | CA397951158 | GUCY2D | c.1754A>G (p.Gln585Arg)
| gnomAD v4 |
17 | g.8012148A>T | CA397951160 | GUCY2D | c.1754A>T (p.Gln585Leu)
| gnomAD v4 |
17 | g.8012149G>A | CA497952977 | GUCY2D | c.1755G>A (p.Gln585=)
| |
17 | g.8012149G>C | CA8365891 | GUCY2D | c.1755G>C (p.Gln585His)
| dbSNP ExAC gnomAD v2 |
17 | g.8012149G= | CA2246113429 | GUCY2D | c.1755G= (p.Gln585=)
| |
17 | g.8012149G>T | CA397951165 | GUCY2D | c.1755G>T (p.Gln585His)
| |
17 | g.8012150G>A | CA397951167 | GUCY2D | c.1756G>A (p.Glu586Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012150G>C | CA397951169 | GUCY2D | c.1756G>C (p.Glu586Gln)
| |
17 | g.8012150G= | CA2246113435 | GUCY2D | c.1756G= (p.Glu586=)
| |
17 | g.8012150G>T | CA397951170 | GUCY2D | c.1756G>T (p.Glu586Ter)
| |
17 | g.8012151A= | CA2246113485 | GUCY2D | c.1757A= (p.Glu586=)
| |
17 | g.8012151A>C | CA397951173 | GUCY2D | c.1757A>C (p.Glu586Ala)
| |
17 | g.8012151A>G | CA397951177 | GUCY2D | c.1757A>G (p.Glu586Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012151A>T | CA397951175 | GUCY2D | c.1757A>T (p.Glu586Val)
| |
17 | g.8012152G>A | CA497952981 | GUCY2D | c.1758G>A (p.Glu586=)
| |
17 | g.8012152G>C | CA397951179 | GUCY2D | c.1758G>C (p.Glu586Asp)
| |
17 | g.8012152G= | CA2246113490 | GUCY2D | c.1758G= (p.Glu586=)
| |
17 | g.8012152G>T | CA8365892 | GUCY2D | c.1758G>T (p.Glu586Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012153C>A | CA397951184 | GUCY2D | c.1759C>A (p.Leu587Ile)
| |
17 | g.8012153C= | CA2246113493 | GUCY2D | c.1759C= (p.Leu587=)
| |
17 | g.8012153C>G | CA8365893 | GUCY2D | c.1759C>G (p.Leu587Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012153C>T | CA397951185 | GUCY2D | c.1759C>T (p.Leu587Phe)
| ClinVar |
17 | g.8012154T>A | CA397951186 | GUCY2D | c.1760T>A (p.Leu587His)
| |
17 | g.8012154T>C | CA397951188 | GUCY2D | c.1760T>C (p.Leu587Pro)
| |
17 | g.8012154T>G | CA397951189 | GUCY2D | c.1760T>G (p.Leu587Arg)
| |
17 | g.8012155C>A | CA497952985 | GUCY2D | c.1761C>A (p.Leu587=)
| |
17 | g.8012155C>G | CA497952986 | GUCY2D | c.1761C>G (p.Leu587=)
| gnomAD v4 |
17 | g.8012155C>T | CA497952987 | GUCY2D | c.1761C>T (p.Leu587=)
| |
17 | g.8012156C>A | CA497952989 | GUCY2D | c.1762C>A (p.Arg588=)
| gnomAD v4 |
17 | g.8012156C= | CA2246113496 | GUCY2D | c.1762C= (p.Arg588=)
| |
17 | g.8012156C>G | CA397951191 | GUCY2D | c.1762C>G (p.Arg588Gly)
| |
17 | g.8012156C>T | CA287530833 | GUCY2D | c.1762C>T (p.Arg588Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012157G>A | CA397951195 | GUCY2D | c.1763G>A (p.Arg588Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012157G>C | CA397951196 | GUCY2D | c.1763G>C (p.Arg588Pro)
| |
17 | g.8012157G= | CA2246113501 | GUCY2D | c.1763G= (p.Arg588=)
| |
17 | g.8012157G>T | CA397951198 | GUCY2D | c.1763G>T (p.Arg588Leu)
| |
17 | g.8012158G>A | CA497952992 | GUCY2D | c.1764G>A (p.Arg588=)
| |
17 | g.8012158G>C | CA497952993 | GUCY2D | c.1764G>C (p.Arg588=)
| |
17 | g.8012158G>T | CA497952994 | GUCY2D | c.1764G>T (p.Arg588=)
| |
17 | g.8012159C>A | CA397951204 | GUCY2D | c.1765C>A (p.His589Asn)
| |
17 | g.8012159C>G | CA397951202 | GUCY2D | c.1765C>G (p.His589Asp)
| |
17 | g.8012159C>T | CA397951200 | GUCY2D | c.1765C>T (p.His589Tyr)
| |
17 | g.8012160A>C | CA397951206 | GUCY2D | c.1766A>C (p.His589Pro)
| |
17 | g.8012160A>G | CA397951207 | GUCY2D | c.1766A>G (p.His589Arg)
| ClinVar dbSNP |
17 | g.8012160A>T | CA397951209 | GUCY2D | c.1766A>T (p.His589Leu)
| gnomAD v4 |
17 | g.8012161T>A | CA397951211 | GUCY2D | c.1767T>A (p.His589Gln)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012161T>C | CA497952997 | GUCY2D | c.1767T>C (p.His589=)
| dbSNP |
17 | g.8012161T>G | CA397951213 | GUCY2D | c.1767T>G (p.His589Gln)
| gnomAD v4 |
17 | g.8012161T= | CA2246113507 | GUCY2D | c.1767T= (p.His589=)
| |
17 | g.8012162G>A | CA397951215 | GUCY2D | c.1768G>A (p.Glu590Lys)
| dbSNP gnomAD v2 |
17 | g.8012162G>C | CA397951217 | GUCY2D | c.1768G>C (p.Glu590Gln)
| |
17 | g.8012162G= | CA2246113514 | GUCY2D | c.1768G= (p.Glu590=)
| |
17 | g.8012162G>T | CA397951219 | GUCY2D | c.1768G>T (p.Glu590Ter)
| |
17 | g.8012163A>C | CA397951221 | GUCY2D | c.1769A>C (p.Glu590Ala)
| |
17 | g.8012163A>G | CA397951223 | GUCY2D | c.1769A>G (p.Glu590Gly)
| |
17 | g.8012163A>T | CA397951225 | GUCY2D | c.1769A>T (p.Glu590Val)
| |
17 | g.8012164G>A | CA497953002 | GUCY2D | c.1770G>A (p.Glu590=)
| dbSNP |
17 | g.8012164G>C | CA397951226 | GUCY2D | c.1770G>C (p.Glu590Asp)
| |
17 | g.8012164G= | CA2246113524 | GUCY2D | c.1770G= (p.Glu590=)
| |
17 | g.8012164G>T | CA397951227 | GUCY2D | c.1770G>T (p.Glu590Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012165A= | CA2246113537 | GUCY2D | c.1771A= (p.Asn591=)
| |
17 | g.8012165A>C | CA397951232 | GUCY2D | c.1771A>C (p.Asn591His)
| |
17 | g.8012165A>G | CA397951230 | GUCY2D | c.1771A>G (p.Asn591Asp)
| ClinVar dbSNP |
17 | g.8012165A>T | CA397951229 | GUCY2D | c.1771A>T (p.Asn591Tyr)
| |
17 | g.8012166A>C | CA397951237 | GUCY2D | c.1772A>C (p.Asn591Thr)
| |
17 | g.8012166A>G | CA397951235 | GUCY2D | c.1772A>G (p.Asn591Ser)
| |
17 | g.8012166A>T | CA397951236 | GUCY2D | c.1772A>T (p.Asn591Ile)
| |
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 |
17 | g.8012180C>A | CA397951296 | GUCY2D | c.1786C>A (p.Leu596Met)
| |
17 | g.8012180C= | CA2246113592 | GUCY2D | c.1786C= (p.Leu596=)
| |
17 | g.8012180C>G | CA397951297 | GUCY2D | c.1786C>G (p.Leu596Val)
| dbSNP |
17 | g.8012180C>T | CA497953037 | GUCY2D | c.1786C>T (p.Leu596=)
| |
17 | g.8012181T>A | CA8365898 | GUCY2D | c.1787T>A (p.Leu596Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012181T>C | CA8365899 | GUCY2D | c.1787T>C (p.Leu596Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012181T>G | CA397951300 | GUCY2D | c.1787T>G (p.Leu596Arg)
| |
17 | g.8012181T= | CA2246113597 | GUCY2D | c.1787T= (p.Leu596=)
| |
17 | g.8012182G>A | CA497953041 | GUCY2D | c.1788G>A (p.Leu596=)
| |
17 | g.8012182G>C | CA497953042 | GUCY2D | c.1788G>C (p.Leu596=)
| |
17 | g.8012182G>T | CA497953044 | GUCY2D | c.1788G>T (p.Leu596=)
| |
17 | g.8012183G>A | CA397951303 | GUCY2D | c.1789G>A (p.Gly597Arg)
| COSMIC |
17 | g.8012183G>C | CA397951305 | GUCY2D | c.1789G>C (p.Gly597Arg)
| gnomAD v4 |
17 | g.8012183G>T | CA397951306 | GUCY2D | c.1789G>T (p.Gly597Trp)
| |
17 | g.8012184G>A | CA287530846 | GUCY2D | c.1790G>A (p.Gly597Glu)
| dbSNP |
17 | g.8012184G>C | CA397951309 | GUCY2D | c.1790G>C (p.Gly597Ala)
| |
17 | g.8012184G= | CA2246113602 | GUCY2D | c.1790G= (p.Gly597=)
| |
17 | g.8012184G>T | CA397951310 | GUCY2D | c.1790G>T (p.Gly597Val)
| |
17 | g.8012185G>A | CA8365900 | GUCY2D | c.1791G>A (p.Gly597=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012185G>C | CA497953049 | GUCY2D | c.1791G>C (p.Gly597=)
| |
17 | g.8012185G= | CA2246113610 | GUCY2D | c.1791G= (p.Gly597=)
| |
17 | g.8012185G>T | CA497953050 | GUCY2D | c.1791G>T (p.Gly597=)
| COSMIC |
17 | g.8012186C>A | CA397951318 | GUCY2D | c.1792C>A (p.Leu598Ile)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012186C= | CA2246113613 | GUCY2D | c.1792C= (p.Leu598=)
| |
17 | g.8012186C>G | CA397951314 | GUCY2D | c.1792C>G (p.Leu598Val)
| |
17 | g.8012186C>T | CA397951316 | GUCY2D | c.1792C>T (p.Leu598Phe)
| gnomAD v4 |
17 | g.8012187T>A | CA397951320 | GUCY2D | c.1793T>A (p.Leu598His)
| |
17 | g.8012187T>C | CA397951322 | GUCY2D | c.1793T>C (p.Leu598Pro)
| |
17 | g.8012187T>G | CA397951324 | GUCY2D | c.1793T>G (p.Leu598Arg)
| |
17 | g.8012188T>A | CA497953060 | GUCY2D | c.1794T>A (p.Leu598=)
| |
17 | g.8012188T>C | CA497953061 | GUCY2D | c.1794T>C (p.Leu598=)
| |
17 | g.8012188T>G | CA497953062 | GUCY2D | c.1794T>G (p.Leu598=)
| |
17 | g.8012189T>A | CA397951326 | GUCY2D | c.1795T>A (p.Phe599Ile)
| |
17 | g.8012189T>C | CA397951327 | GUCY2D | c.1795T>C (p.Phe599Leu)
| |
17 | g.8012189T>G | CA397951329 | GUCY2D | c.1795T>G (p.Phe599Val)
| |
17 | g.8012190T>A | CA397951331 | GUCY2D | c.1796T>A (p.Phe599Tyr)
| |
17 | g.8012190T>C | CA397951332 | GUCY2D | c.1796T>C (p.Phe599Ser)
| |
17 | g.8012190T>G | CA397951334 | GUCY2D | c.1796T>G (p.Phe599Cys)
| |
17 | g.8012191C>A | CA397951336 | GUCY2D | c.1797C>A (p.Phe599Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012191C= | CA2246113619 | GUCY2D | c.1797C= (p.Phe599=)
| |
17 | g.8012191C>G | CA397951338 | GUCY2D | c.1797C>G (p.Phe599Leu)
| |
17 | g.8012191C>T | CA497953067 | GUCY2D | c.1797C>T (p.Phe599=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012192C>A | CA8365901 | GUCY2D | c.1798C>A (p.Leu600Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012192C= | CA2246113622 | GUCY2D | c.1798C= (p.Leu600=)
| |
17 | g.8012192C>G | CA397951339 | GUCY2D | c.1798C>G (p.Leu600Val)
| |
17 | g.8012192C>T | CA497953070 | GUCY2D | c.1798C>T (p.Leu600=)
| |
17 | g.8012193T>A | CA397951342 | GUCY2D | c.1799T>A (p.Leu600Gln)
| |
17 | g.8012193T>C | CA397951343 | GUCY2D | c.1799T>C (p.Leu600Pro)
| |
17 | g.8012193T>G | CA397951344 | GUCY2D | c.1799T>G (p.Leu600Arg)
| |
17 | g.8012194G>A | CA497953075 | GUCY2D | c.1800G>A (p.Leu600=)
| |
17 | g.8012194G>C | CA497953076 | GUCY2D | c.1800G>C (p.Leu600=)
| |
17 | g.8012194G>T | CA497953078 | GUCY2D | c.1800G>T (p.Leu600=)
| |
17 | g.8012195G>A | CA397951345 | GUCY2D | c.1801G>A (p.Ala601Thr)
| |
17 | g.8012195G>C | CA397951346 | GUCY2D | c.1801G>C (p.Ala601Pro)
| |
17 | g.8012195G>T | CA397951347 | GUCY2D | c.1801G>T (p.Ala601Ser)
| |
17 | g.8012196C>A | CA397951349 | GUCY2D | c.1802C>A (p.Ala601Asp)
| |
17 | g.8012196C= | CA2246113624 | GUCY2D | c.1802C= (p.Ala601=)
| |
17 | g.8012196C>G | CA397951351 | GUCY2D | c.1802C>G (p.Ala601Gly)
| |
17 | g.8012196C>T | CA8365902 | GUCY2D | c.1802C>T (p.Ala601Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012197T>A | CA497953086 | GUCY2D | c.1803T>A (p.Ala601=)
| |
17 | g.8012197T>C | CA497953089 | GUCY2D | c.1803T>C (p.Ala601=)
| |
17 | g.8012197T>G | CA497953087 | GUCY2D | c.1803T>G (p.Ala601=)
| |
17 | g.8012198C>A | CA497953090 | GUCY2D | c.1804C>A (p.Arg602=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012198C= | CA2246113633 | GUCY2D | c.1804C= (p.Arg602=)
| |
17 | g.8012198C>G | CA8365904 | GUCY2D | c.1804C>G (p.Arg602Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012198C>T | CA8365903 | GUCY2D | c.1804C>T (p.Arg602Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012198_8012199delinsCG | CA2246113640 | GUCY2D | c.1804_1805delinsCG (p.Arg602=)
| |
17 | g.8012199G>A | CA8365905 | GUCY2D | c.1805G>A (p.Arg602Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012199G>C | CA397951357 | GUCY2D | c.1805G>C (p.Arg602Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012199G= | CA2246113651 | GUCY2D | c.1805G= (p.Arg602=)
| |
17 | g.8012199G>T | CA397951359 | GUCY2D | c.1805G>T (p.Arg602Leu)
| |
17 | g.8012202del | CA624867855 | GUCY2D | c.1808del (p.Gly603GlufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012199_8012223del | CA2695224518 | GUCY2D | c.1805_1829del (p.Arg602ProfsTer27)
| |
17 | g.8012199_8012224delinsGGGGAGCAGAAGGCCCTGCGGCCCTC | CA2246113647 | GUCY2D | c.1805_1830delinsGGGGAGCAGAAGGCCCTGCGGCCCTC (p.Arg602=)
| |
17 | g.8012200G>A | CA497953097 | GUCY2D | c.1806G>A (p.Arg602=)
| dbSNP |
17 | g.8012200G>C | CA497953098 | GUCY2D | c.1806G>C (p.Arg602=)
| |
17 | g.8012200G= | CA2246113660 | GUCY2D | c.1806G= (p.Arg602=)
| |
17 | g.8012200G>T | CA497953099 | GUCY2D | c.1806G>T (p.Arg602=)
| |
17 | g.8012200_8012224del | CA226056 | GUCY2D | c.1806_1830del (p.Ala604ArgfsTer25)
| ClinVar dbSNP |
17 | g.8012201G>A | CA397951361 | GUCY2D | c.1807G>A (p.Gly603Arg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012201G>C | CA397951363 | GUCY2D | c.1807G>C (p.Gly603Arg)
| |
17 | g.8012201G= | CA2246113663 | GUCY2D | c.1807G= (p.Gly603=)
| |
17 | g.8012201G>T | CA397951364 | GUCY2D | c.1807G>T (p.Gly603Ter)
| |
17 | g.8012202G>A | CA287530875 | GUCY2D | c.1808G>A (p.Gly603Glu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012202G>C | CA8365906 | GUCY2D | c.1808G>C (p.Gly603Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012202G= | CA2246113674 | GUCY2D | c.1808G= (p.Gly603=)
| |
17 | g.8012202G>T | CA397951367 | GUCY2D | c.1808G>T (p.Gly603Val)
| gnomAD v4 |
17 | g.8012202_8012203delinsGA | CA2246113672 | GUCY2D | c.1808_1809delinsGA (p.Gly603=)
| |
17 | g.8012203del | CA8365907 | GUCY2D | c.1809del (p.Ala604GlnfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012203A>C | CA497953101 | GUCY2D | c.1809A>C (p.Gly603=)
| |
17 | g.8012203A>G | CA497953102 | GUCY2D | c.1809A>G (p.Gly603=)
| |
17 | g.8012203A>T | CA497953103 | GUCY2D | c.1809A>T (p.Gly603=)
| |
17 | g.8012204G>A | CA397951369 | GUCY2D | c.1810G>A (p.Ala604Thr)
| |
17 | g.8012204G>C | CA397951371 | GUCY2D | c.1810G>C (p.Ala604Pro)
| |
17 | g.8012204G>T | CA397951373 | GUCY2D | c.1810G>T (p.Ala604Ser)
| |
17 | g.8012205C>A | CA397951375 | GUCY2D | c.1811C>A (p.Ala604Glu)
| |
17 | g.8012205C= | CA2246113685 | GUCY2D | c.1811C= (p.Ala604=)
| |
17 | g.8012205C>G | CA397951377 | GUCY2D | c.1811C>G (p.Ala604Gly)
| |
17 | g.8012205C>T | CA397951379 | GUCY2D | c.1811C>T (p.Ala604Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012206A>C | CA497953109 | GUCY2D | c.1812A>C (p.Ala604=)
| |
17 | g.8012206A>G | CA497953107 | GUCY2D | c.1812A>G (p.Ala604=)
| |
17 | g.8012206A>T | CA497953106 | GUCY2D | c.1812A>T (p.Ala604=)
| |
17 | g.8012207G>A | CA397951383 | GUCY2D | c.1813G>A (p.Glu605Lys)
| |
17 | g.8012207G>C | CA397951385 | GUCY2D | c.1813G>C (p.Glu605Gln)
| |
17 | g.8012207G>T | CA397951381 | GUCY2D | c.1813G>T (p.Glu605Ter)
| |
17 | g.8012208A>C | CA397951389 | GUCY2D | c.1814A>C (p.Glu605Ala)
| |
17 | g.8012208A>G | CA397951387 | GUCY2D | c.1814A>G (p.Glu605Gly)
| |
17 | g.8012208A>T | CA397951391 | GUCY2D | c.1814A>T (p.Glu605Val)
| |
17 | g.8012209A>C | CA397951393 | GUCY2D | c.1815A>C (p.Glu605Asp)
| |
17 | g.8012209A>G | CA497953115 | GUCY2D | c.1815A>G (p.Glu605=)
| |
17 | g.8012209A>T | CA397951395 | GUCY2D | c.1815A>T (p.Glu605Asp)
| |
17 | g.8012210G>A | CA397951397 | GUCY2D | c.1816G>A (p.Gly606Ser)
| |
17 | g.8012210G>C | CA8365908 | GUCY2D | c.1816G>C (p.Gly606Arg)
| dbSNP ExAC gnomAD v2 |
17 | g.8012210G= | CA2246113693 | GUCY2D | c.1816G= (p.Gly606=)
| |
17 | g.8012210G>T | CA397951399 | GUCY2D | c.1816G>T (p.Gly606Cys)
| |
17 | g.8012211G>A | CA397951401 | GUCY2D | c.1817G>A (p.Gly606Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012211G>C | CA397951403 | GUCY2D | c.1817G>C (p.Gly606Ala)
| |
17 | g.8012211G= | CA2246113701 | GUCY2D | c.1817G= (p.Gly606=)
| |
17 | g.8012211G>T | CA397951405 | GUCY2D | c.1817G>T (p.Gly606Val)
| |
17 | g.8012212C>A | CA497953121 | GUCY2D | c.1818C>A (p.Gly606=)
| dbSNP gnomAD v2 |
17 | g.8012212C= | CA2246113711 | GUCY2D | c.1818C= (p.Gly606=)
| |
17 | g.8012212C>G | CA497953123 | GUCY2D | c.1818C>G (p.Gly606=)
| |
17 | g.8012212C>T | CA8365909 | GUCY2D | c.1818C>T (p.Gly606=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012213C>A | CA397951408 | GUCY2D | c.1819C>A (p.Pro607Thr)
| |
17 | g.8012213C>G | CA397951409 | GUCY2D | c.1819C>G (p.Pro607Ala)
| |
17 | g.8012213C>T | CA397951411 | GUCY2D | c.1819C>T (p.Pro607Ser)
| |
17 | g.8012214C>A | CA397951416 | GUCY2D | c.1820C>A (p.Pro607His)
| |
17 | g.8012214C>G | CA397951414 | GUCY2D | c.1820C>G (p.Pro607Arg)
| |
17 | g.8012214C>T | CA397951413 | GUCY2D | c.1820C>T (p.Pro607Leu)
| |
17 | g.8012215T>A | CA497953127 | GUCY2D | c.1821T>A (p.Pro607=)
| |
17 | g.8012215T>C | CA497953128 | GUCY2D | c.1821T>C (p.Pro607=)
| |
17 | g.8012215T>G | CA497953132 | GUCY2D | c.1821T>G (p.Pro607=)
| |
17 | g.8012215_8012218dup | CA2580094891 | GUCY2D | c.1821_1824dup (p.Ala609CysfsTer?)
| ClinVar |
17 | g.8012216G>A | CA8365910 | GUCY2D | c.1822G>A (p.Ala608Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012216G>C | CA397951417 | GUCY2D | c.1822G>C (p.Ala608Pro)
| |
17 | g.8012216G= | CA2246113717 | GUCY2D | c.1822G= (p.Ala608=)
| |
17 | g.8012216G>T | CA397951420 | GUCY2D | c.1822G>T (p.Ala608Ser)
| |
17 | g.8012217C>A | CA397951423 | GUCY2D | c.1823C>A (p.Ala608Glu)
| gnomAD v4 |
17 | g.8012217C= | CA2246113720 | GUCY2D | c.1823C= (p.Ala608=)
| |
17 | g.8012217C>G | CA397951424 | GUCY2D | c.1823C>G (p.Ala608Gly)
| |
17 | g.8012217C>T | CA397951426 | GUCY2D | c.1823C>T (p.Ala608Val)
| dbSNP gnomAD v4 |
17 | g.8012218G>A | CA8365911 | GUCY2D | c.1824G>A (p.Ala608=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012218G>C | CA497953140 | GUCY2D | c.1824G>C (p.Ala608=)
| |
17 | g.8012218G= | CA2246113726 | GUCY2D | c.1824G= (p.Ala608=)
| |
17 | g.8012218G>T | CA497953138 | GUCY2D | c.1824G>T (p.Ala608=)
| COSMIC |
17 | g.8012219G>A | CA287530897 | GUCY2D | c.1825G>A (p.Ala609Thr)
| ClinVar dbSNP gnomAD v4 |
17 | g.8012219G>C | CA397951428 | GUCY2D | c.1825G>C (p.Ala609Pro)
| |
17 | g.8012219G= | CA2246113730 | GUCY2D | c.1825G= (p.Ala609=)
| |
17 | g.8012219G>T | CA397951430 | GUCY2D | c.1825G>T (p.Ala609Ser)
| |
17 | g.8012220C>A | CA397951432 | GUCY2D | c.1826C>A (p.Ala609Asp)
| |
17 | g.8012220C>G | CA397951434 | GUCY2D | c.1826C>G (p.Ala609Gly)
| |
17 | g.8012220C>T | CA397951436 | GUCY2D | c.1826C>T (p.Ala609Val)
| |
17 | g.8012221C>A | CA497953143 | GUCY2D | c.1827C>A (p.Ala609=)
| |
17 | g.8012221C= | CA2246113733 | GUCY2D | c.1827C= (p.Ala609=)
| |
17 | g.8012221C>G | CA497953145 | GUCY2D | c.1827C>G (p.Ala609=)
| |
17 | g.8012221C>T | CA287530898 | GUCY2D | c.1827C>T (p.Ala609=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012222C>A | CA8365912 | GUCY2D | c.1828C>A (p.Leu610Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012222C= | CA2246113736 | GUCY2D | c.1828C= (p.Leu610=)
| |
17 | g.8012222C>G | CA287530915 | GUCY2D | c.1828C>G (p.Leu610Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012222C>T | CA397951438 | GUCY2D | c.1828C>T (p.Leu610Phe)
| gnomAD v4 |
17 | g.8012223T>A | CA397951442 | GUCY2D | c.1829T>A (p.Leu610His)
| |
17 | g.8012223T>C | CA397951445 | GUCY2D | c.1829T>C (p.Leu610Pro)
| |
17 | g.8012223T>G | CA397951446 | GUCY2D | c.1829T>G (p.Leu610Arg)
| |
17 | g.8012224C>A | CA497953152 | GUCY2D | c.1830C>A (p.Leu610=)
| |
17 | g.8012224C>G | CA497953153 | GUCY2D | c.1830C>G (p.Leu610=)
| |
17 | g.8012224C>T | CA497953154 | GUCY2D | c.1830C>T (p.Leu610=)
| COSMIC |
17 | g.8012225T>A | CA397951449 | GUCY2D | c.1831T>A (p.Trp611Arg)
| |
17 | g.8012225T>C | CA397951451 | GUCY2D | c.1831T>C (p.Trp611Arg)
| |
17 | g.8012225T>G | CA397951452 | GUCY2D | c.1831T>G (p.Trp611Gly)
| |
17 | g.8012226G>A | CA397951455 | GUCY2D | c.1832G>A (p.Trp611Ter)
| dbSNP gnomAD v2 |
17 | g.8012226G>C | CA397951457 | GUCY2D | c.1832G>C (p.Trp611Ser)
| |
17 | g.8012226G= | CA2246113739 | GUCY2D | c.1832G= (p.Trp611=)
| |
17 | g.8012226G>T | CA397951458 | GUCY2D | c.1832G>T (p.Trp611Leu)
| |
17 | g.8012227G>A | CA397951461 | GUCY2D | c.1833G>A (p.Trp611Ter)
| |
17 | g.8012227G>C | CA397951463 | GUCY2D | c.1833G>C (p.Trp611Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012227G= | CA2246113746 | GUCY2D | c.1833G= (p.Trp611=)
| |
17 | g.8012227G>T | CA397951465 | GUCY2D | c.1833G>T (p.Trp611Cys)
| |
17 | g.8012228G>A | CA397951471 | GUCY2D | c.1834G>A (p.Glu612Lys)
| gnomAD v4 |
17 | g.8012228G>C | CA397951468 | GUCY2D | c.1834G>C (p.Glu612Gln)
| |
17 | g.8012228G>T | CA397951469 | GUCY2D | c.1834G>T (p.Glu612Ter)
| |
17 | g.8012229A>C | CA397951473 | GUCY2D | c.1835A>C (p.Glu612Ala)
| |
17 | g.8012229A>G | CA397951475 | GUCY2D | c.1835A>G (p.Glu612Gly)
| gnomAD v4 |
17 | g.8012229A>T | CA397951477 | GUCY2D | c.1835A>T (p.Glu612Val)
| |
17 | g.8012230G>A | CA497953173 | GUCY2D | c.1836G>A (p.Glu612=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012230G>C | CA397951480 | GUCY2D | c.1836G>C (p.Glu612Asp)
| |
17 | g.8012230G= | CA2246113754 | GUCY2D | c.1836G= (p.Glu612=)
| |
17 | g.8012230G>T | CA397951481 | GUCY2D | c.1836G>T (p.Glu612Asp)
| |
17 | g.8012231G>A | CA397951483 | GUCY2D | c.1837G>A (p.Gly613Ser)
| |
17 | g.8012231G>C | CA397951485 | GUCY2D | c.1837G>C (p.Gly613Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012231G= | CA2246113758 | GUCY2D | c.1837G= (p.Gly613=)
| |
17 | g.8012231G>T | CA397951486 | GUCY2D | c.1837G>T (p.Gly613Cys)
| |
17 | g.8012232G>A | CA397951489 | GUCY2D | c.1838G>A (p.Gly613Asp)
| |
17 | g.8012232G>C | CA397951491 | GUCY2D | c.1838G>C (p.Gly613Ala)
| |
17 | g.8012232G>T | CA397951493 | GUCY2D | c.1838G>T (p.Gly613Val)
| ClinVar dbSNP |
17 | g.8012233C>A | CA497953177 | GUCY2D | c.1839C>A (p.Gly613=)
| |
17 | g.8012233C>G | CA497953178 | GUCY2D | c.1839C>G (p.Gly613=)
| |
17 | g.8012233C>T | CA497953180 | GUCY2D | c.1839C>T (p.Gly613=)
| |
17 | g.8012234A>C | CA397951498 | GUCY2D | c.1840A>C (p.Asn614His)
| |
17 | g.8012234A>G | CA397951500 | GUCY2D | c.1840A>G (p.Asn614Asp)
| |
17 | g.8012234A>T | CA397951495 | GUCY2D | c.1840A>T (p.Asn614Tyr)
| |
17 | g.8012235A= | CA2246113764 | GUCY2D | c.1841A= (p.Asn614=)
| |
17 | g.8012235A>C | CA397951506 | GUCY2D | c.1841A>C (p.Asn614Thr)
| ClinVar dbSNP |
17 | g.8012235A>G | CA397951503 | GUCY2D | c.1841A>G (p.Asn614Ser)
| ClinVar dbSNP |
17 | g.8012235A>T | CA397951505 | GUCY2D | c.1841A>T (p.Asn614Ile)
| |
17 | g.8012236C>A | CA397951508 | GUCY2D | c.1842C>A (p.Asn614Lys)
| gnomAD v4 |
17 | g.8012236C>G | CA397951510 | GUCY2D | c.1842C>G (p.Asn614Lys)
| |
17 | g.8012236C>T | CA497953185 | GUCY2D | c.1842C>T (p.Asn614=)
| ClinVar gnomAD v4 |
17 | g.8012237C>A | CA397951512 | GUCY2D | c.1843C>A (p.Leu615Met)
| COSMIC |
17 | g.8012237C= | CA2246113771 | GUCY2D | c.1843C= (p.Leu615=)
| |
17 | g.8012237C>G | CA287530922 | GUCY2D | c.1843C>G (p.Leu615Val)
| ClinVar dbSNP |
17 | g.8012237C>T | CA8365913 | GUCY2D | c.1843C>T (p.Leu615=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012238T>A | CA397951517 | GUCY2D | c.1844T>A (p.Leu615Gln)
| |
17 | g.8012238T>C | CA397951519 | GUCY2D | c.1844T>C (p.Leu615Pro)
| |
17 | g.8012238T>G | CA397951521 | GUCY2D | c.1844T>G (p.Leu615Arg)
| |
17 | g.8012239G>A | CA497953193 | GUCY2D | c.1845G>A (p.Leu615=)
| |
17 | g.8012239G>C | CA497953195 | GUCY2D | c.1845G>C (p.Leu615=)
| |
17 | g.8012239G>T | CA497953194 | GUCY2D | c.1845G>T (p.Leu615=)
| |
17 | g.8012240G>A | CA397951523 | GUCY2D | c.1846G>A (p.Ala616Thr)
| |
17 | g.8012240G>C | CA397951525 | GUCY2D | c.1846G>C (p.Ala616Pro)
| |
17 | g.8012240G>T | CA397951527 | GUCY2D | c.1846G>T (p.Ala616Ser)
| |
17 | g.8012241C>A | CA397951529 | GUCY2D | c.1847C>A (p.Ala616Asp)
| |
17 | g.8012241C= | CA2246113778 | GUCY2D | c.1847C= (p.Ala616=)
| |
17 | g.8012241C>G | CA397951533 | GUCY2D | c.1847C>G (p.Ala616Gly)
| |
17 | g.8012241C>T | CA397951531 | GUCY2D | c.1847C>T (p.Ala616Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012242T>A | CA497953198 | GUCY2D | c.1848T>A (p.Ala616=)
| |
17 | g.8012242T>C | CA8365914 | GUCY2D | c.1848T>C (p.Ala616=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012242T>G | CA497953202 | GUCY2D | c.1848T>G (p.Ala616=)
| |
17 | g.8012242T= | CA2246113782 | GUCY2D | c.1848T= (p.Ala616=)
| |
17 | g.8012243G>A | CA397951536 | GUCY2D | c.1849G>A (p.Val617Met)
| gnomAD v4 |
17 | g.8012243G>C | CA397951538 | GUCY2D | c.1849G>C (p.Val617Leu)
| |
17 | g.8012243G= | CA2246113786 | GUCY2D | c.1849G= (p.Val617=)
| |
17 | g.8012243G>T | CA8365915 | GUCY2D | c.1849G>T (p.Val617Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012244T>A | CA397951541 | GUCY2D | c.1850T>A (p.Val617Glu)
| |
17 | g.8012244T>C | CA397951543 | GUCY2D | c.1850T>C (p.Val617Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012244T>G | CA397951545 | GUCY2D | c.1850T>G (p.Val617Gly)
| |
17 | g.8012244T= | CA2246113795 | GUCY2D | c.1850T= (p.Val617=)
| |