17 | g.8012478T>A | CA397952134 | GUCY2D | c.1985T>A (p.Val662Glu)
| |
17 | g.8012478T>C | CA397952136 | GUCY2D | c.1985T>C (p.Val662Ala)
| |
17 | g.8012478T>G | CA397952138 | GUCY2D | c.1985T>G (p.Val662Gly)
| |
17 | g.8012479G>A | CA497953184 | GUCY2D | c.1986G>A (p.Val662=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012479G>C | CA497953183 | GUCY2D | c.1986G>C (p.Val662=)
| |
17 | g.8012479G= | CA2246114414 | GUCY2D | c.1986G= (p.Val662=)
| |
17 | g.8012479G>T | CA497953182 | GUCY2D | c.1986G>T (p.Val662=)
| |
17 | g.8012480G>A | CA8365963 | GUCY2D | c.1987G>A (p.Ala663Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012480G>C | CA397952140 | GUCY2D | c.1987G>C (p.Ala663Pro)
| |
17 | g.8012480G= | CA2246114415 | GUCY2D | c.1987G= (p.Ala663=)
| |
17 | g.8012480G>T | CA397952143 | GUCY2D | c.1987G>T (p.Ala663Ser)
| gnomAD v4 |
17 | g.8012481C>A | CA397952145 | GUCY2D | c.1988C>A (p.Ala663Asp)
| |
17 | g.8012481C>G | CA397952147 | GUCY2D | c.1988C>G (p.Ala663Gly)
| |
17 | g.8012481C>T | CA397952149 | GUCY2D | c.1988C>T (p.Ala663Val)
| |
17 | g.8012482T>A | CA497953189 | GUCY2D | c.1989T>A (p.Ala663=)
| |
17 | g.8012482T>C | CA497953192 | GUCY2D | c.1989T>C (p.Ala663=)
| |
17 | g.8012482T>G | CA497953190 | GUCY2D | c.1989T>G (p.Ala663=)
| gnomAD v4 |
17 | g.8012483C>A | CA397952151 | GUCY2D | c.1990C>A (p.His664Asn)
| |
17 | g.8012483C>G | CA397952153 | GUCY2D | c.1990C>G (p.His664Asp)
| COSMIC |
17 | g.8012483C>T | CA397952155 | GUCY2D | c.1990C>T (p.His664Tyr)
| |
17 | g.8012484A= | CA2246114416 | GUCY2D | c.1991A= (p.His664=)
| |
17 | g.8012484A>C | CA397952157 | GUCY2D | c.1991A>C (p.His664Pro)
| dbSNP gnomAD v4 |
17 | g.8012484A>G | CA397952159 | GUCY2D | c.1991A>G (p.His664Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012484A>T | CA397952161 | GUCY2D | c.1991A>T (p.His664Leu)
| |
17 | g.8012485T>A | CA397952163 | GUCY2D | c.1992T>A (p.His664Gln)
| gnomAD v4 |
17 | g.8012485T>C | CA497953196 | GUCY2D | c.1992T>C (p.His664=)
| dbSNP gnomAD v4 |
17 | g.8012485T>G | CA397952164 | GUCY2D | c.1992T>G (p.His664Gln)
| ClinVar dbSNP |
17 | g.8012485T= | CA2246114417 | GUCY2D | c.1992T= (p.His664=)
| |
17 | g.8012486G>A | CA397952167 | GUCY2D | c.1993G>A (p.Gly665Arg)
| |
17 | g.8012486G>C | CA397952171 | GUCY2D | c.1993G>C (p.Gly665Arg)
| |
17 | g.8012486G>T | CA397952169 | GUCY2D | c.1993G>T (p.Gly665Trp)
| |
17 | g.8012487G>A | CA397952174 | GUCY2D | c.1994G>A (p.Gly665Glu)
| |
17 | g.8012487G>C | CA397952176 | GUCY2D | c.1994G>C (p.Gly665Ala)
| |
17 | g.8012487G>T | CA397952175 | GUCY2D | c.1994G>T (p.Gly665Val)
| |
17 | g.8012488G>A | CA497953205 | GUCY2D | c.1995G>A (p.Gly665=)
| |
17 | g.8012488G>C | CA497953206 | GUCY2D | c.1995G>C (p.Gly665=)
| |
17 | g.8012488G>T | CA497953207 | GUCY2D | c.1995G>T (p.Gly665=)
| |
17 | g.8012489C>A | CA497953208 | GUCY2D | c.1996C>A (p.Arg666=)
| |
17 | g.8012489C= | CA2246114418 | GUCY2D | c.1996C= (p.Arg666=)
| |
17 | g.8012489C>G | CA397952178 | GUCY2D | c.1996C>G (p.Arg666Gly)
| |
17 | g.8012489C>T | CA8365964 | GUCY2D | c.1996C>T (p.Arg666Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012490G>A | CA8365965 | GUCY2D | c.1997G>A (p.Arg666Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012490G>C | CA397952182 | GUCY2D | c.1997G>C (p.Arg666Pro)
| |
17 | g.8012490G= | CA2246114419 | GUCY2D | c.1997G= (p.Arg666=)
| |
17 | g.8012490G>T | CA397952184 | GUCY2D | c.1997G>T (p.Arg666Leu)
| |
17 | g.8012491G>A | CA497953211 | GUCY2D | c.1998G>A (p.Arg666=)
| |
17 | g.8012491G>C | CA497953213 | GUCY2D | c.1998G>C (p.Arg666=)
| |
17 | g.8012491G>T | CA497953214 | GUCY2D | c.1998G>T (p.Arg666=)
| |
17 | g.8012492C>A | CA397952186 | GUCY2D | c.1999C>A (p.Leu667Met)
| |
17 | g.8012492C= | CA2246114421 | GUCY2D | c.1999C= (p.Leu667=)
| |
17 | g.8012492C>G | CA397952188 | GUCY2D | c.1999C>G (p.Leu667Val)
| |
17 | g.8012492C>T | CA8365966 | GUCY2D | c.1999C>T (p.Leu667=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012493T>A | CA397952191 | GUCY2D | c.2000T>A (p.Leu667Gln)
| |
17 | g.8012493T>C | CA397952193 | GUCY2D | c.2000T>C (p.Leu667Pro)
| |
17 | g.8012493T>G | CA397952195 | GUCY2D | c.2000T>G (p.Leu667Arg)
| |
17 | g.8012494del | CA2635949867 | GUCY2D | c.2001del (p.Lys668SerfsTer6)
| gnomAD v4 |
17 | g.8012494G>A | CA497953223 | GUCY2D | c.2001G>A (p.Leu667=)
| |
17 | g.8012494G>C | CA497953225 | GUCY2D | c.2001G>C (p.Leu667=)
| |
17 | g.8012494G>T | CA497953227 | GUCY2D | c.2001G>T (p.Leu667=)
| |
17 | g.8012495A>C | CA397952199 | GUCY2D | c.2002A>C (p.Lys668Gln)
| |
17 | g.8012495A>G | CA397952198 | GUCY2D | c.2002A>G (p.Lys668Glu)
| |
17 | g.8012495A>T | CA397952196 | GUCY2D | c.2002A>T (p.Lys668Ter)
| |
17 | g.8012496A>C | CA397952201 | GUCY2D | c.2003A>C (p.Lys668Thr)
| |
17 | g.8012496A>G | CA397952203 | GUCY2D | c.2003A>G (p.Lys668Arg)
| |
17 | g.8012496A>T | CA397952204 | GUCY2D | c.2003A>T (p.Lys668Met)
| |
17 | g.8012497G>A | CA497953235 | GUCY2D | c.2004G>A (p.Lys668=)
| |
17 | g.8012497G>C | CA397952207 | GUCY2D | c.2004G>C (p.Lys668Asn)
| |
17 | g.8012497G>T | CA397952209 | GUCY2D | c.2004G>T (p.Lys668Asn)
| |
17 | g.8012497_8012501delinsGTCAC | CA2246114423 | GUCY2D | c.2004_2008delinsGTCAC (p.Lys668=)
| |
17 | g.8012498T>A | CA397952211 | GUCY2D | c.2005T>A (p.Ser669Thr)
| |
17 | g.8012498T>C | CA397952213 | GUCY2D | c.2005T>C (p.Ser669Pro)
| |
17 | g.8012498T>G | CA397952215 | GUCY2D | c.2005T>G (p.Ser669Ala)
| |
17 | g.8012498_8012501del | CA287531193 | GUCY2D | c.2005_2008del (p.Ser669GlyfsTer4)
| dbSNP gnomAD v4 |
17 | g.8012499C>A | CA397952219 | GUCY2D | c.2006C>A (p.Ser669Ter)
| gnomAD v4 |
17 | g.8012499C>G | CA397952220 | GUCY2D | c.2006C>G (p.Ser669Ter)
| ClinVar dbSNP |
17 | g.8012499C>T | CA397952222 | GUCY2D | c.2006C>T (p.Ser669Leu)
| |
17 | g.8012500A>C | CA497953241 | GUCY2D | c.2007A>C (p.Ser669=)
| |
17 | g.8012500A>G | CA497953245 | GUCY2D | c.2007A>G (p.Ser669=)
| |
17 | g.8012500A>T | CA497953246 | GUCY2D | c.2007A>T (p.Ser669=)
| |
17 | g.8012501C>A | CA497953247 | GUCY2D | c.2008C>A (p.Arg670=)
| |
17 | g.8012501C= | CA2246114424 | GUCY2D | c.2008C= (p.Arg670=)
| |
17 | g.8012501C>G | CA397952224 | GUCY2D | c.2008C>G (p.Arg670Gly)
| |
17 | g.8012501C>T | CA287531201 | GUCY2D | c.2008C>T (p.Arg670Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012502G>A | CA8365967 | GUCY2D | c.2009G>A (p.Arg670Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012502G>C | CA397952229 | GUCY2D | c.2009G>C (p.Arg670Pro)
| |
17 | g.8012502G= | CA2246114425 | GUCY2D | c.2009G= (p.Arg670=)
| |
17 | g.8012502G>T | CA397952231 | GUCY2D | c.2009G>T (p.Arg670Leu)
| |
17 | g.8012503G>A | CA8365968 | GUCY2D | c.2010G>A (p.Arg670=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012503G>C | CA497953251 | GUCY2D | c.2010G>C (p.Arg670=)
| |
17 | g.8012503G= | CA2246114426 | GUCY2D | c.2010G= (p.Arg670=)
| |
17 | g.8012503G>T | CA497953249 | GUCY2D | c.2010G>T (p.Arg670=)
| |
17 | g.8012504A>C | CA397952234 | GUCY2D | c.2011A>C (p.Asn671His)
| |
17 | g.8012504A>G | CA397952236 | GUCY2D | c.2011A>G (p.Asn671Asp)
| |
17 | g.8012504A>T | CA397952238 | GUCY2D | c.2011A>T (p.Asn671Tyr)
| |
17 | g.8012505A>C | CA397952240 | GUCY2D | c.2012A>C (p.Asn671Thr)
| |
17 | g.8012505A>G | CA397952242 | GUCY2D | c.2012A>G (p.Asn671Ser)
| |
17 | g.8012505A>T | CA397952244 | GUCY2D | c.2012A>T (p.Asn671Ile)
| |
17 | g.8012506C>A | CA397952246 | GUCY2D | c.2013C>A (p.Asn671Lys)
| |
17 | g.8012506C>G | CA397952248 | GUCY2D | c.2013C>G (p.Asn671Lys)
| |
17 | g.8012506C>T | CA497953258 | GUCY2D | c.2013C>T (p.Asn671=)
| |
17 | g.8012507T>A | CA397952254 | GUCY2D | c.2014T>A (p.Cys672Ser)
| |
17 | g.8012507T>C | CA397952251 | GUCY2D | c.2014T>C (p.Cys672Arg)
| |
17 | g.8012507T>G | CA397952252 | GUCY2D | c.2014T>G (p.Cys672Gly)
| |
17 | g.8012508G>A | CA397952257 | GUCY2D | c.2015G>A (p.Cys672Tyr)
| ClinVar dbSNP |
17 | g.8012508G>C | CA397952258 | GUCY2D | c.2015G>C (p.Cys672Ser)
| |
17 | g.8012508G= | CA2246114427 | GUCY2D | c.2015G= (p.Cys672=)
| |
17 | g.8012508G>T | CA397952261 | GUCY2D | c.2015G>T (p.Cys672Phe)
| |
17 | g.8012509C>A | CA397952263 | GUCY2D | c.2016C>A (p.Cys672Ter)
| |
17 | g.8012509C>G | CA397952265 | GUCY2D | c.2016C>G (p.Cys672Trp)
| |
17 | g.8012509C>T | CA497953262 | GUCY2D | c.2016C>T (p.Cys672=)
| |
17 | g.8012510A= | CA2246114431 | GUCY2D | c.2017A= (p.Ile673=)
| |
17 | g.8012510A>C | CA397952267 | GUCY2D | c.2017A>C (p.Ile673Leu)
| |
17 | g.8012510A>G | CA397952269 | GUCY2D | c.2017A>G (p.Ile673Val)
| dbSNP gnomAD v4 |
17 | g.8012510A>T | CA397952273 | GUCY2D | c.2017A>T (p.Ile673Leu)
| |
17 | g.8012511T>A | CA397952276 | GUCY2D | c.2018T>A (p.Ile673Lys)
| |
17 | g.8012511T>C | CA397952277 | GUCY2D | c.2018T>C (p.Ile673Thr)
| gnomAD v4 |
17 | g.8012511T>G | CA397952279 | GUCY2D | c.2018T>G (p.Ile673Arg)
| |
17 | g.8012512A= | CA2246114434 | GUCY2D | c.2019A= (p.Ile673=)
| |
17 | g.8012512A>C | CA497953271 | GUCY2D | c.2019A>C (p.Ile673=)
| |
17 | g.8012512A>G | CA397952281 | GUCY2D | c.2019A>G (p.Ile673Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012512A>T | CA497953272 | GUCY2D | c.2019A>T (p.Ile673=)
| |
17 | g.8012513G>A | CA397952285 | GUCY2D | c.2020G>A (p.Val674Met)
| |
17 | g.8012513G>C | CA397952287 | GUCY2D | c.2020G>C (p.Val674Leu)
| |
17 | g.8012513G>T | CA397952283 | GUCY2D | c.2020G>T (p.Val674Leu)
| |
17 | g.8012514T>A | CA397952292 | GUCY2D | c.2021T>A (p.Val674Glu)
| |
17 | g.8012514T>C | CA397952290 | GUCY2D | c.2021T>C (p.Val674Ala)
| |
17 | g.8012514T>G | CA397952293 | GUCY2D | c.2021T>G (p.Val674Gly)
| |
17 | g.8012515G>A | CA497953281 | GUCY2D | c.2022G>A (p.Val674=)
| |
17 | g.8012515G>C | CA497953285 | GUCY2D | c.2022G>C (p.Val674=)
| |
17 | g.8012515G= | CA2246114438 | GUCY2D | c.2022G= (p.Val674=)
| |
17 | g.8012515G>T | CA497953283 | GUCY2D | c.2022G>T (p.Val674=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012516G>A | CA397952295 | GUCY2D | c.2023G>A (p.Asp675Asn)
| |
17 | g.8012516G>C | CA397952299 | GUCY2D | c.2023G>C (p.Asp675His)
| |
17 | g.8012516G>T | CA397952297 | GUCY2D | c.2023G>T (p.Asp675Tyr)
| |
17 | g.8012517A>C | CA397952301 | GUCY2D | c.2024A>C (p.Asp675Ala)
| gnomAD v4 |
17 | g.8012517A>G | CA397952303 | GUCY2D | c.2024A>G (p.Asp675Gly)
| gnomAD v4 |
17 | g.8012517A>T | CA397952305 | GUCY2D | c.2024A>T (p.Asp675Val)
| gnomAD v4 |
17 | g.8012518T>A | CA397952308 | GUCY2D | c.2025T>A (p.Asp675Glu)
| |
17 | g.8012518T>C | CA497953291 | GUCY2D | c.2025T>C (p.Asp675=)
| |
17 | g.8012518T>G | CA397952309 | GUCY2D | c.2025T>G (p.Asp675Glu)
| |
17 | g.8012519G>A | CA397952311 | GUCY2D | c.2026G>A (p.Gly676Ser)
| |
17 | g.8012519G>C | CA397952313 | GUCY2D | c.2026G>C (p.Gly676Arg)
| gnomAD v4 |
17 | g.8012519G>T | CA397952315 | GUCY2D | c.2026G>T (p.Gly676Cys)
| |
17 | g.8012520G>A | CA397952316 | GUCY2D | c.2027G>A (p.Gly676Asp)
| |
17 | g.8012520G>C | CA397952318 | GUCY2D | c.2027G>C (p.Gly676Ala)
| |
17 | g.8012520G>T | CA397952320 | GUCY2D | c.2027G>T (p.Gly676Val)
| |
17 | g.8012521C>A | CA497953299 | GUCY2D | c.2028C>A (p.Gly676=)
| |
17 | g.8012521C= | CA2246114441 | GUCY2D | c.2028C= (p.Gly676=)
| |
17 | g.8012521C>G | CA497953300 | GUCY2D | c.2028C>G (p.Gly676=)
| dbSNP |
17 | g.8012521C>T | CA497953301 | GUCY2D | c.2028C>T (p.Gly676=)
| |
17 | g.8012522A>C | CA497953302 | GUCY2D | c.2029A>C (p.Arg677=)
| |
17 | g.8012522A>G | CA397952325 | GUCY2D | c.2029A>G (p.Arg677Gly)
| gnomAD v4 |
17 | g.8012522A>T | CA397952323 | GUCY2D | c.2029A>T (p.Arg677Ter)
| |
17 | g.8012523G>A | CA8365969 | GUCY2D | c.2030G>A (p.Arg677Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012523G>C | CA397952328 | GUCY2D | c.2030G>C (p.Arg677Thr)
| |
17 | g.8012523G= | CA2246114443 | GUCY2D | c.2030G= (p.Arg677=)
| |
17 | g.8012523G>T | CA397952330 | GUCY2D | c.2030G>T (p.Arg677Ile)
| |
17 | g.8012524A= | CA2246114444 | GUCY2D | c.2031A= (p.Arg677=)
| |
17 | g.8012524A>C | CA397952333 | GUCY2D | c.2031A>C (p.Arg677Ser)
| |
17 | g.8012524A>G | CA8365970 | GUCY2D | c.2031A>G (p.Arg677=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012524A>T | CA397952335 | GUCY2D | c.2031A>T (p.Arg677Ser)
| |
17 | g.8012525T>A | CA397952337 | GUCY2D | c.2032T>A (p.Phe678Ile)
| |
17 | g.8012525T>C | CA397952339 | GUCY2D | c.2032T>C (p.Phe678Leu)
| dbSNP |
17 | g.8012525T>G | CA397952341 | GUCY2D | c.2032T>G (p.Phe678Val)
| |
17 | g.8012525T= | CA2246114446 | GUCY2D | c.2032T= (p.Phe678=)
| |
17 | g.8012526T>A | CA397952343 | GUCY2D | c.2033T>A (p.Phe678Tyr)
| |
17 | g.8012526T>C | CA397952344 | GUCY2D | c.2033T>C (p.Phe678Ser)
| |
17 | g.8012526T>G | CA397952346 | GUCY2D | c.2033T>G (p.Phe678Cys)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012526T= | CA2246114447 | GUCY2D | c.2033T= (p.Phe678=)
| |
17 | g.8012527C>A | CA397952349 | GUCY2D | c.2034C>A (p.Phe678Leu)
| |
17 | g.8012527C= | CA2246114451 | GUCY2D | c.2034C= (p.Phe678=)
| |
17 | g.8012527C>G | CA397952351 | GUCY2D | c.2034C>G (p.Phe678Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012527C>T | CA8365971 | GUCY2D | c.2034C>T (p.Phe678=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012528G>A | CA8365972 | GUCY2D | c.2035G>A (p.Val679Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012528G>C | CA397952354 | GUCY2D | c.2035G>C (p.Val679Leu)
| |
17 | g.8012528G= | CA2246114458 | GUCY2D | c.2035G= (p.Val679=)
| |
17 | g.8012528G>T | CA397952356 | GUCY2D | c.2035G>T (p.Val679Leu)
| |
17 | g.8012529T>A | CA397952359 | GUCY2D | c.2036T>A (p.Val679Glu)
| |
17 | g.8012529T>C | CA397952360 | GUCY2D | c.2036T>C (p.Val679Ala)
| gnomAD v4 |
17 | g.8012529T>G | CA397952363 | GUCY2D | c.2036T>G (p.Val679Gly)
| |
17 | g.8012530A>C | CA497953317 | GUCY2D | c.2037A>C (p.Val679=)
| |
17 | g.8012530A>G | CA497953320 | GUCY2D | c.2037A>G (p.Val679=)
| |
17 | g.8012530A>T | CA497953321 | GUCY2D | c.2037A>T (p.Val679=)
| gnomAD v4 |
17 | g.8012531C>A | CA397952365 | GUCY2D | c.2038C>A (p.Leu680Ile)
| |
17 | g.8012531C= | CA2246114460 | GUCY2D | c.2038C= (p.Leu680=)
| |
17 | g.8012531C>G | CA397952367 | GUCY2D | c.2038C>G (p.Leu680Val)
| |
17 | g.8012531C>T | CA397952369 | GUCY2D | c.2038C>T (p.Leu680Phe)
| dbSNP |
17 | g.8012532T>A | CA397952371 | GUCY2D | c.2039T>A (p.Leu680His)
| |
17 | g.8012532T>C | CA397952373 | GUCY2D | c.2039T>C (p.Leu680Pro)
| |
17 | g.8012532T>G | CA397952375 | GUCY2D | c.2039T>G (p.Leu680Arg)
| |
17 | g.8012533C>A | CA497953322 | GUCY2D | c.2040C>A (p.Leu680=)
| |
17 | g.8012533C= | CA2246114462 | GUCY2D | c.2040C= (p.Leu680=)
| |
17 | g.8012533C>G | CA497953324 | GUCY2D | c.2040C>G (p.Leu680=)
| |
17 | g.8012533C>T | CA497953326 | GUCY2D | c.2040C>T (p.Leu680=)
| dbSNP |
17 | g.8012534A= | CA2246114464 | GUCY2D | c.2041A= (p.Lys681=)
| |
17 | g.8012534A>C | CA397952379 | GUCY2D | c.2041A>C (p.Lys681Gln)
| |
17 | g.8012534A>G | CA8365973 | GUCY2D | c.2041A>G (p.Lys681Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012534A>T | CA397952377 | GUCY2D | c.2041A>T (p.Lys681Ter)
| |
17 | g.8012535A>C | CA397952383 | GUCY2D | c.2042A>C (p.Lys681Thr)
| |
17 | g.8012535A>G | CA397952385 | GUCY2D | c.2042A>G (p.Lys681Arg)
| |
17 | g.8012535A>T | CA397952386 | GUCY2D | c.2042A>T (p.Lys681Met)
| |
17 | g.8012536G>A | CA497953331 | GUCY2D | c.2043G>A (p.Lys681=)
| |
17 | g.8012536G>C | CA397952388 | GUCY2D | c.2043G>C (p.Lys681Asn)
| |
17 | g.8012536G>T | CA397952390 | GUCY2D | c.2043G>T (p.Lys681Asn)
| |
17 | g.8012537A>C | CA397952395 | GUCY2D | c.2044A>C (p.Ile682Leu)
| |
17 | g.8012537A>G | CA397952392 | GUCY2D | c.2044A>G (p.Ile682Val)
| |
17 | g.8012537A>T | CA397952393 | GUCY2D | c.2044A>T (p.Ile682Phe)
| |
17 | g.8012538T>A | CA397952398 | GUCY2D | c.2045T>A (p.Ile682Asn)
| |
17 | g.8012538T>C | CA397952399 | GUCY2D | c.2045T>C (p.Ile682Thr)
| |
17 | g.8012538T>G | CA397952401 | GUCY2D | c.2045T>G (p.Ile682Ser)
| |
17 | g.8012539C>A | CA497953338 | GUCY2D | c.2046C>A (p.Ile682=)
| |
17 | g.8012539C= | CA2246114470 | GUCY2D | c.2046C= (p.Ile682=)
| |
17 | g.8012539C>G | CA397952403 | GUCY2D | c.2046C>G (p.Ile682Met)
| |
17 | g.8012539C>T | CA8365974 | GUCY2D | c.2046C>T (p.Ile682=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012540A>C | CA397952412 | GUCY2D | c.2047A>C (p.Thr683Pro)
| |
17 | g.8012540A>G | CA397952410 | GUCY2D | c.2047A>G (p.Thr683Ala)
| |
17 | g.8012540A>T | CA397952407 | GUCY2D | c.2047A>T (p.Thr683Ser)
| |
17 | g.8012541C>A | CA397952414 | GUCY2D | c.2048C>A (p.Thr683Asn)
| |
17 | g.8012541C>G | CA397952417 | GUCY2D | c.2048C>G (p.Thr683Ser)
| |
17 | g.8012541C>T | CA397952415 | GUCY2D | c.2048C>T (p.Thr683Ile)
| |
17 | g.8012542T>A | CA497953342 | GUCY2D | c.2049T>A (p.Thr683=)
| |
17 | g.8012542T>C | CA497953344 | GUCY2D | c.2049T>C (p.Thr683=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012542T>G | CA497953346 | GUCY2D | c.2049T>G (p.Thr683=)
| |
17 | g.8012542T= | CA2246114472 | GUCY2D | c.2049T= (p.Thr683=)
| |
17 | g.8012543G>A | CA397952419 | GUCY2D | c.2050G>A (p.Asp684Asn)
| |
17 | g.8012543G>C | CA397952421 | GUCY2D | c.2050G>C (p.Asp684His)
| |
17 | g.8012543G>T | CA397952423 | GUCY2D | c.2050G>T (p.Asp684Tyr)
| gnomAD v4 |
17 | g.8012544A>C | CA397952425 | GUCY2D | c.2051A>C (p.Asp684Ala)
| |
17 | g.8012544A>G | CA397952427 | GUCY2D | c.2051A>G (p.Asp684Gly)
| |
17 | g.8012544A>T | CA397952429 | GUCY2D | c.2051A>T (p.Asp684Val)
| |
17 | g.8012545C>A | CA287531258 | GUCY2D | c.2052C>A (p.Asp684Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012545C= | CA2246114475 | GUCY2D | c.2052C= (p.Asp684=)
| |
17 | g.8012545C>G | CA397952432 | GUCY2D | c.2052C>G (p.Asp684Glu)
| |
17 | g.8012545C>T | CA287531259 | GUCY2D | c.2052C>T (p.Asp684=)
| dbSNP gnomAD v4 |
17 | g.8012546C>A | CA397952434 | GUCY2D | c.2053C>A (p.His685Asn)
| gnomAD v4 |
17 | g.8012546C= | CA2246114479 | GUCY2D | c.2053C= (p.His685=)
| |
17 | g.8012546C>G | CA397952436 | GUCY2D | c.2053C>G (p.His685Asp)
| |
17 | g.8012546C>T | CA397952438 | GUCY2D | c.2053C>T (p.His685Tyr)
| dbSNP |
17 | g.8012547A>C | CA397952442 | GUCY2D | c.2054A>C (p.His685Pro)
| |
17 | g.8012547A>G | CA397952441 | GUCY2D | c.2054A>G (p.His685Arg)
| |
17 | g.8012547A>T | CA397952440 | GUCY2D | c.2054A>T (p.His685Leu)
| |
17 | g.8012548C>A | CA397952443 | GUCY2D | c.2055C>A (p.His685Gln)
| |
17 | g.8012548C= | CA2246114483 | GUCY2D | c.2055C= (p.His685=)
| |
17 | g.8012548C>G | CA397952445 | GUCY2D | c.2055C>G (p.His685Gln)
| |
17 | g.8012548C>T | CA8365975 | GUCY2D | c.2055C>T (p.His685=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012549G>A | CA8365976 | GUCY2D | c.2056G>A (p.Gly686Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012549G>C | CA397952449 | GUCY2D | c.2056G>C (p.Gly686Arg)
| |
17 | g.8012549G= | CA2246114486 | GUCY2D | c.2056G= (p.Gly686=)
| |
17 | g.8012549G>T | CA397952451 | GUCY2D | c.2056G>T (p.Gly686Cys)
| |
17 | g.8012550G>A | CA397952453 | GUCY2D | c.2057G>A (p.Gly686Asp)
| gnomAD v4 COSMIC |
17 | g.8012550G>C | CA397952455 | GUCY2D | c.2057G>C (p.Gly686Ala)
| |
17 | g.8012550G>T | CA397952457 | GUCY2D | c.2057G>T (p.Gly686Val)
| |
17 | g.8012551C>A | CA497953364 | GUCY2D | c.2058C>A (p.Gly686=)
| |
17 | g.8012551C>G | CA497953366 | GUCY2D | c.2058C>G (p.Gly686=)
| |
17 | g.8012551C>T | CA497953367 | GUCY2D | c.2058C>T (p.Gly686=)
| |
17 | g.8012552C>A | CA397952459 | GUCY2D | c.2059C>A (p.His687Asn)
| |
17 | g.8012552C= | CA2246114491 | GUCY2D | c.2059C= (p.His687=)
| |
17 | g.8012552C>G | CA397952460 | GUCY2D | c.2059C>G (p.His687Asp)
| |
17 | g.8012552C>T | CA8365977 | GUCY2D | c.2059C>T (p.His687Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012553A>C | CA397952465 | GUCY2D | c.2060A>C (p.His687Pro)
| |
17 | g.8012553A>G | CA397952464 | GUCY2D | c.2060A>G (p.His687Arg)
| |
17 | g.8012553A>T | CA397952462 | GUCY2D | c.2060A>T (p.His687Leu)
| |
17 | g.8012554C>A | CA397952467 | GUCY2D | c.2061C>A (p.His687Gln)
| |
17 | g.8012554C= | CA2246114494 | GUCY2D | c.2061C= (p.His687=)
| |
17 | g.8012554C>G | CA397952468 | GUCY2D | c.2061C>G (p.His687Gln)
| |
17 | g.8012554C>T | CA8365978 | GUCY2D | c.2061C>T (p.His687=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012555G>A | CA8365979 | GUCY2D | c.2062G>A (p.Gly688Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012555G>C | CA397952474 | GUCY2D | c.2062G>C (p.Gly688Arg)
| |
17 | g.8012555G= | CA2246114497 | GUCY2D | c.2062G= (p.Gly688=)
| |
17 | g.8012555G>T | CA397952476 | GUCY2D | c.2062G>T (p.Gly688Trp)
| |
17 | g.8012556G>A | CA397952479 | GUCY2D | c.2063G>A (p.Gly688Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012556G>C | CA397952480 | GUCY2D | c.2063G>C (p.Gly688Ala)
| |
17 | g.8012556G= | CA2246114498 | GUCY2D | c.2063G= (p.Gly688=)
| |
17 | g.8012556G>T | CA397952482 | GUCY2D | c.2063G>T (p.Gly688Val)
| |
17 | g.8012557G>A | CA497953386 | GUCY2D | c.2064G>A (p.Gly688=)
| dbSNP gnomAD v4 |
17 | g.8012557G>C | CA497953387 | GUCY2D | c.2064G>C (p.Gly688=)
| |
17 | g.8012557G= | CA2246114501 | GUCY2D | c.2064G= (p.Gly688=)
| |
17 | g.8012557G>T | CA497953389 | GUCY2D | c.2064G>T (p.Gly688=)
| |
17 | g.8012558A>C | CA497953390 | GUCY2D | c.2065A>C (p.Arg689=)
| |
17 | g.8012558A>G | CA397952484 | GUCY2D | c.2065A>G (p.Arg689Gly)
| |
17 | g.8012558A>T | CA397952486 | GUCY2D | c.2065A>T (p.Arg689Ter)
| |
17 | g.8012559G>A | CA397952489 | GUCY2D | c.2066G>A (p.Arg689Lys)
| |
17 | g.8012559G>C | CA397952491 | GUCY2D | c.2066G>C (p.Arg689Thr)
| |
17 | g.8012559G>T | CA397952493 | GUCY2D | c.2066G>T (p.Arg689Ile)
| |
17 | g.8012560A= | CA2246114504 | GUCY2D | c.2067A= (p.Arg689=)
| |
17 | g.8012560A>C | CA397952495 | GUCY2D | c.2067A>C (p.Arg689Ser)
| |
17 | g.8012560A>G | CA287531283 | GUCY2D | c.2067A>G (p.Arg689=)
| ClinVar dbSNP |
17 | g.8012560A>T | CA8365980 | GUCY2D | c.2067A>T (p.Arg689Ser)
| dbSNP ExAC gnomAD v2 |
17 | g.8012561C>A | CA397952499 | GUCY2D | c.2068C>A (p.Leu690Met)
| |
17 | g.8012561C>G | CA397952501 | GUCY2D | c.2068C>G (p.Leu690Val)
| |
17 | g.8012561C>T | CA497953397 | GUCY2D | c.2068C>T (p.Leu690=)
| |
17 | g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT | CA2808393056 | GUCY2D | c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCT (p.Leu690ArgfsTer25)
| |
17 | g.8012561_8012562insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG | CA2808393058 | GUCY2D | c.2068_2069insGTAGGAGAAGGCGATCCACTTCCCGTTGGGTGACCATACGAAGTCGGGGTCAAGCGTCTGCTTGCCGTCGGTGATCTGACGAGTCTGGCGGGTCTTGAGGTTG (p.Leu690ArgfsTer25)
| |
17 | g.8012562T>A | CA397952503 | GUCY2D | c.2069T>A (p.Leu690Gln)
| |
17 | g.8012562T>C | CA397952505 | GUCY2D | c.2069T>C (p.Leu690Pro)
| gnomAD v4 |
17 | g.8012562T>G | CA397952506 | GUCY2D | c.2069T>G (p.Leu690Arg)
| |
17 | g.8012563G>A | CA497953403 | GUCY2D | c.2070G>A (p.Leu690=)
| |
17 | g.8012563G>C | CA497953402 | GUCY2D | c.2070G>C (p.Leu690=)
| |
17 | g.8012563G>T | CA497953400 | GUCY2D | c.2070G>T (p.Leu690=)
| |
17 | g.8012564C>A | CA397952508 | GUCY2D | c.2071C>A (p.Leu691Met)
| |
17 | g.8012564C>G | CA397952510 | GUCY2D | c.2071C>G (p.Leu691Val)
| |
17 | g.8012564C>T | CA497953404 | GUCY2D | c.2071C>T (p.Leu691=)
| |
17 | g.8012565T>A | CA397952511 | GUCY2D | c.2072T>A (p.Leu691Gln)
| |
17 | g.8012565T>C | CA397952512 | GUCY2D | c.2072T>C (p.Leu691Pro)
| |
17 | g.8012565T>G | CA397952515 | GUCY2D | c.2072T>G (p.Leu691Arg)
| |
17 | g.8012566G>A | CA8365981 | GUCY2D | c.2073G>A (p.Leu691=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012566G>C | CA497953407 | GUCY2D | c.2073G>C (p.Leu691=)
| |
17 | g.8012566G= | CA2246114508 | GUCY2D | c.2073G= (p.Leu691=)
| |
17 | g.8012566G>T | CA497953408 | GUCY2D | c.2073G>T (p.Leu691=)
| |
17 | g.8012566_8012574delinsGGAAGCACA | CA2246114509 | GUCY2D | c.2073_2081delinsGGAAGCACA (p.Leu691=)
| |
17 | g.8012567G>A | CA397952523 | GUCY2D | c.2074G>A (p.Glu692Lys)
| COSMIC |
17 | g.8012567G>C | CA397952519 | GUCY2D | c.2074G>C (p.Glu692Gln)
| |
17 | g.8012567G>T | CA397952521 | GUCY2D | c.2074G>T (p.Glu692Ter)
| |
17 | g.8012571_8012578del | CA226065 | GUCY2D | c.2078_2085del (p.Ala693GlyfsTer20)
| ClinVar dbSNP |
17 | g.8012568A>C | CA397952525 | GUCY2D | c.2075A>C (p.Glu692Ala)
| |
17 | g.8012568A>G | CA397952526 | GUCY2D | c.2075A>G (p.Glu692Gly)
| |
17 | g.8012568A>T | CA397952528 | GUCY2D | c.2075A>T (p.Glu692Val)
| |
17 | g.8012569A= | CA2246114516 | GUCY2D | c.2076A= (p.Glu692=)
| |
17 | g.8012569A>C | CA397952530 | GUCY2D | c.2076A>C (p.Glu692Asp)
| |
17 | g.8012569A>G | CA8365982 | GUCY2D | c.2076A>G (p.Glu692=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012569A>T | CA397952532 | GUCY2D | c.2076A>T (p.Glu692Asp)
| |
17 | g.8012570G>A | CA397952535 | GUCY2D | c.2077G>A (p.Ala693Thr)
| |
17 | g.8012570G>C | CA397952537 | GUCY2D | c.2077G>C (p.Ala693Pro)
| |
17 | g.8012570G>T | CA397952538 | GUCY2D | c.2077G>T (p.Ala693Ser)
| gnomAD v4 |
17 | g.8012571C>A | CA8365983 | GUCY2D | c.2078C>A (p.Ala693Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012571C= | CA2246114519 | GUCY2D | c.2078C= (p.Ala693=)
| |
17 | g.8012571C>G | CA397952541 | GUCY2D | c.2078C>G (p.Ala693Gly)
| |
17 | g.8012571C>T | CA397952542 | GUCY2D | c.2078C>T (p.Ala693Val)
| |
17 | g.8012572A>C | CA497953418 | GUCY2D | c.2079A>C (p.Ala693=)
| |
17 | g.8012572A>G | CA497953421 | GUCY2D | c.2079A>G (p.Ala693=)
| |
17 | g.8012572A>T | CA497953422 | GUCY2D | c.2079A>T (p.Ala693=)
| |
17 | g.8012573C>A | CA226066 | GUCY2D | c.2080C>A (p.Gln694Lys)
| ClinVar dbSNP |
17 | g.8012573C= | CA2246114530 | GUCY2D | c.2080C= (p.Gln694=)
| |
17 | g.8012573C>G | CA8365984 | GUCY2D | c.2080C>G (p.Gln694Glu)
| dbSNP ExAC |
17 | g.8012573C>T | CA8365985 | GUCY2D | c.2080C>T (p.Gln694Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012574A>C | CA397952548 | GUCY2D | c.2081A>C (p.Gln694Pro)
| |
17 | g.8012574A>G | CA397952551 | GUCY2D | c.2081A>G (p.Gln694Arg)
| |
17 | g.8012574A>T | CA397952549 | GUCY2D | c.2081A>T (p.Gln694Leu)
| |
17 | g.8012576_8012578del | CA2576160314 | GUCY2D | c.2083_2085del (p.Lys695del)
| |
17 | g.8012575G>A | CA287531337 | GUCY2D | c.2082G>A (p.Gln694=)
| ClinVar dbSNP |
17 | g.8012575G>C | CA397952553 | GUCY2D | c.2082G>C (p.Gln694His)
| |
17 | g.8012575G= | CA2246114534 | GUCY2D | c.2082G= (p.Gln694=)
| |
17 | g.8012575G>T | CA397952554 | GUCY2D | c.2082G>T (p.Gln694His)
| COSMIC |
17 | g.8012576A>C | CA397952556 | GUCY2D | c.2083A>C (p.Lys695Gln)
| |
17 | g.8012576A>G | CA397952558 | GUCY2D | c.2083A>G (p.Lys695Glu)
| |
17 | g.8012576A>T | CA397952560 | GUCY2D | c.2083A>T (p.Lys695Ter)
| |
17 | g.8012576_8012577insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA | CA8365986 | GUCY2D | c.2083_2084insCCTCGTGTCTAAAAAAAAAGGCTTATGATCAATAAATCCGAACCTGCCTGGGTCCTGATCACCAATGCAA (p.Lys695ThrfsTer12)
| ExAC |
17 | g.8012577A= | CA2246114538 | GUCY2D | c.2084A= (p.Lys695=)
| |
17 | g.8012577A>C | CA397952562 | GUCY2D | c.2084A>C (p.Lys695Thr)
| |
17 | g.8012577A>G | CA397952564 | GUCY2D | c.2084A>G (p.Lys695Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012577A>T | CA397952566 | GUCY2D | c.2084A>T (p.Lys695Met)
| |
17 | g.8012578G>A | CA497953434 | GUCY2D | c.2085G>A (p.Lys695=)
| gnomAD v4 |
17 | g.8012578G>C | CA397952568 | GUCY2D | c.2085G>C (p.Lys695Asn)
| |
17 | g.8012578G>T | CA397952570 | GUCY2D | c.2085G>T (p.Lys695Asn)
| |