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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8015838_8015856dup | CA2635955084 | GUCY2D | c.3040_3043+15dup | gnomAD v4 |
| 17 | g.8015845_8015848del | CA2838032371 | GUCY2D | c.3043+4_3043+7del (n.3043+4_3043+7del) | |
| 17 | g.8015847_8015901del | CA2590216217 | GUCY2D | c.3043+6_3044-26del (n.3043+6_3044-26del) | gnomAD v3 gnomAD v4 |
| 17 | g.8015847T= | CA2246121206 | GUCY2D | c.3043+6T= (n.3043+6T=) | |
| 17 | g.8015848_8015858dup | CA8366284 | GUCY2D | c.3043+7_3043+17dup (n.3043+7_3043+17dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015850G>C | CA2246121208 | GUCY2D | c.3043+9G>C (n.3043+9G>C) | dbSNP gnomAD v4 |
| 17 | g.8015850G= | CA2246121210 | GUCY2D | c.3043+9G= (n.3043+9G=) | |
| 17 | g.8015850G>T | CA2839076214 | GUCY2D | c.3043+9G>T (n.3043+9G>T) | |
| 17 | g.8015858_8015868dup | CA2740095259 | GUCY2D | c.3043+17_3043+27dup (n.3043+17_3043+27dup) | ClinVar |
| 17 | g.8015852C>A | CA8366286 | GUCY2D | c.3043+11C>A (n.3043+11C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015852C= | CA2246121215 | GUCY2D | c.3043+11C= (n.3043+11C=) | |
| 17 | g.8015852C>G | CA2581292161 | GUCY2D | c.3043+11C>G (n.3043+11C>G) | |
| 17 | g.8015852C>T | CA8366285 | GUCY2D | c.3043+11C>T (n.3043+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015853G>A | CA8366287 | GUCY2D | c.3043+12G>A (n.3043+12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015853G>C | CA2635955117 | GUCY2D | c.3043+12G>C (n.3043+12G>C) | gnomAD v4 |
| 17 | g.8015853G= | CA2246121221 | GUCY2D | c.3043+12G= (n.3043+12G=) | |
| 17 | g.8015853G>T | CA2635955121 | GUCY2D | c.3043+12G>T (n.3043+12G>T) | gnomAD v4 |
| 17 | g.8015856del | CA2635955114 | GUCY2D | c.3043+15del (n.3043+15del) | ClinVar gnomAD v4 |
| 17 | g.8015854G>A | CA287534312 | GUCY2D | c.3043+13G>A (n.3043+13G>A) | dbSNP gnomAD v4 |
| 17 | g.8015854G= | CA2246121223 | GUCY2D | c.3043+13G= (n.3043+13G=) | |
| 17 | g.8015855G>A | CA624868024 | GUCY2D | c.3043+14G>A (n.3043+14G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015855G>C | CA2740095260 | GUCY2D | c.3043+14G>C (n.3043+14G>C) | ClinVar |
| 17 | g.8015855G= | CA2246121226 | GUCY2D | c.3043+14G= (n.3043+14G=) | |
| 17 | g.8015855G>T | CA624868025 | GUCY2D | c.3043+14G>T (n.3043+14G>T) | dbSNP gnomAD v2 |
| 17 | g.8015856G>A | CA8366288 | GUCY2D | c.3043+15G>A (n.3043+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015856G= | CA2246121229 | GUCY2D | c.3043+15G= (n.3043+15G=) | |
| 17 | g.8015857A= | CA2246121233 | GUCY2D | c.3043+16A= (n.3043+16A=) | |
| 17 | g.8015857A>T | CA624868026 | GUCY2D | c.3043+16A>T (n.3043+16A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015858C>A | CA2635955143 | GUCY2D | c.3043+17C>A (n.3043+17C>A) | gnomAD v4 |
| 17 | g.8015858C= | CA2246121236 | GUCY2D | c.3043+17C= (n.3043+17C=) | |
| 17 | g.8015858C>T | CA624868027 | GUCY2D | c.3043+17C>T (n.3043+17C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015859A>G | CA2635955148 | GUCY2D | c.3043+18A>G (n.3043+18A>G) | gnomAD v4 |
| 17 | g.8015860A>T | CA2635955151 | GUCY2D | c.3043+19A>T (n.3043+19A>T) | gnomAD v4 |
| 17 | g.8015861G>A | CA981232828 | GUCY2D | c.3043+20G>A (n.3043+20G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015861G>C | CA8366289 | GUCY2D | c.3043+20G>C (n.3043+20G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015861G= | CA2246121241 | GUCY2D | c.3043+20G= (n.3043+20G=) | |
| 17 | g.8015861G>T | CA2581292162 | GUCY2D | c.3043+20G>T (n.3043+20G>T) | gnomAD v4 |
| 17 | g.8015863C= | CA2246121247 | GUCY2D | c.3043+22C= (n.3043+22C=) | |
| 17 | g.8015863C>T | CA624868028 | GUCY2D | c.3043+22C>T (n.3043+22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.8015864G>A | CA8366290 | GUCY2D | c.3043+23G>A (n.3043+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015864G= | CA2246121254 | GUCY2D | c.3043+23G= (n.3043+23G=) | |
| 17 | g.8015864G>T | CA497753904 | GUCY2D | c.3043+23G>T (n.3043+23G>T) | |
| 17 | g.8015869_8015881dup | CA2635955165 | GUCY2D | c.3043+28_3043+40dup (n.3043+28_3043+40dup) | gnomAD v4 |
| 17 | g.8015866G>A | CA624868029 | GUCY2D | c.3043+25G>A (n.3043+25G>A) | dbSNP gnomAD v2 |
| 17 | g.8015866G= | CA2246121255 | GUCY2D | c.3043+25G= (n.3043+25G=) | |
| 17 | g.8015866G>T | CA2635955168 | GUCY2D | c.3043+25G>T (n.3043+25G>T) | gnomAD v4 |
| 17 | g.8015868A= | CA2246121258 | GUCY2D | c.3043+27A= (n.3043+27A=) | |
| 17 | g.8015868A>T | CA2246121259 | GUCY2D | c.3043+27A>T (n.3043+27A>T) | dbSNP gnomAD v4 |
| 17 | g.8015868_8015869insCAA | CA2635955170 | GUCY2D | c.3043+27_3043+28insCAA (n.3043+27_3043+28insCAA) | gnomAD v4 |
| 17 | g.8015869G>A | CA624868030 | GUCY2D | c.3043+28G>A (n.3043+28G>A) | dbSNP gnomAD v2 |
| 17 | g.8015869G= | CA2246121262 | GUCY2D | c.3043+28G= (n.3043+28G=) | |
| 17 | g.8015869G>T | CA8366291 | GUCY2D | c.3043+28G>T (n.3043+28G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015870G>A | CA981232835 | GUCY2D | c.3043+29G>A (n.3043+29G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015870G= | CA2246121265 | GUCY2D | c.3043+29G= (n.3043+29G=) | |
| 17 | g.8015871_8015884delinsTGGGAGGGGGACAC | CA2246121266 | GUCY2D | c.3043+30_3044-43delinsTGGGAGGGGGACAC (n.3043+30_3044-43delinsTGGGAGGGGGACAC) | |
| 17 | g.8015872G>T | CA2576160529 | GUCY2D | c.3043+31G>T (n.3043+31G>T) | |
| 17 | g.8015874del | CA2841476694 | GUCY2D | c.3043+33del (n.3043+33del) | |
| 17 | g.8015878_8015890del | CA624868031 | GUCY2D | c.3043+37_3044-37del (n.3043+37_3044-37del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015873G>A | CA2635955176 | GUCY2D | c.3043+32G>A (n.3043+32G>A) | gnomAD v4 |
| 17 | g.8015874G>A | CA2576160530 | GUCY2D | c.3043+33G>A (n.3043+33G>A) | |
| 17 | g.8015874G>C | CA8366292 | GUCY2D | c.3043+33G>C (n.3043+33G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015874G= | CA2246121269 | GUCY2D | c.3043+33G= (n.3043+33G=) | |
| 17 | g.8015875del | CA2576160531 | GUCY2D | c.3043+34del (n.3043+34del) | |
| 17 | g.8015875A= | CA2246121272 | GUCY2D | c.3043+34A= (n.3043+34A=) | |
| 17 | g.8015875A>T | CA8366293 | GUCY2D | c.3043+34A>T (n.3043+34A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015876G>A | CA2576160533 | GUCY2D | c.3043+35G>A (n.3043+35G>A) | gnomAD v4 |
| 17 | g.8015876G= | CA2246121274 | GUCY2D | c.3043+35G= (n.3043+35G=) | |
| 17 | g.8015880dup | CA2832569883 | GUCY2D | c.3043+39dup (n.3043+39dup) | |
| 17 | g.8015880del | CA2576160532 | GUCY2D | c.3043+39del (n.3043+39del) | |
| 17 | g.8015878_8015899dup | CA287534332 | GUCY2D | c.3043+37_3044-28dup (n.3043+37_3044-28dup) | dbSNP gnomAD v4 |
| 17 | g.8015880G>A | CA624868032 | GUCY2D | c.3043+39G>A (n.3043+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015880G>C | CA2635955193 | GUCY2D | c.3043+39G>C (n.3043+39G>C) | gnomAD v4 |
| 17 | g.8015880G= | CA2246121277 | GUCY2D | c.3043+39G= (n.3043+39G=) | |
| 17 | g.8015880G>T | CA8366294 | GUCY2D | c.3043+39G>T (n.3043+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015884C>A | CA8366295 | GUCY2D | c.3044-43C>A (n.3044-43C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015884C= | CA2246121280 | GUCY2D | c.3044-43C= (n.3044-43C=) | |
| 17 | g.8015884C>G | CA981232844 | GUCY2D | c.3044-43C>G (n.3044-43C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015884C>T | CA624868033 | GUCY2D | c.3044-43C>T (n.3044-43C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015885G>A | CA8366296 | GUCY2D | c.3044-42G>A (n.3044-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015885G>C | CA775516638 | GUCY2D | c.3044-42G>C (n.3044-42G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015885G= | CA2246121284 | GUCY2D | c.3044-42G= (n.3044-42G=) | |
| 17 | g.8015885G>T | CA2635955204 | GUCY2D | c.3044-42G>T (n.3044-42G>T) | gnomAD v4 |
| 17 | g.8015887G>A | CA981232851 | GUCY2D | c.3044-40G>A (n.3044-40G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015887G= | CA2246121287 | GUCY2D | c.3044-40G= (n.3044-40G=) | |
| 17 | g.8015889G>A | CA2576160534 | GUCY2D | c.3044-38G>A (n.3044-38G>A) | gnomAD v4 |
| 17 | g.8015889G= | CA2246121292 | GUCY2D | c.3044-38G= (n.3044-38G=) | |
| 17 | g.8015889G>T | CA2246121289 | GUCY2D | c.3044-38G>T (n.3044-38G>T) | dbSNP |
| 17 | g.8015890dup | CA2841476695 | GUCY2D | c.3044-37dup (n.3044-37dup) | |
| 17 | g.8015890G>A | CA2635955211 | GUCY2D | c.3044-37G>A (n.3044-37G>A) | gnomAD v4 |
| 17 | g.8015892G>A | CA2635955213 | GUCY2D | c.3044-35G>A (n.3044-35G>A) | gnomAD v4 |
| 17 | g.8015893A>T | CA2635955214 | GUCY2D | c.3044-34A>T (n.3044-34A>T) | gnomAD v4 |
| 17 | g.8015894G>A | CA2571099283 | GUCY2D | c.3044-33G>A (n.3044-33G>A) | |
| 17 | g.8015894G>T | CA2635955215 | GUCY2D | c.3044-33G>T (n.3044-33G>T) | gnomAD v4 |
| 17 | g.8015895T>A | CA775516640 | GUCY2D | c.3044-32T>A (n.3044-32T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015895T>C | CA2635955217 | GUCY2D | c.3044-32T>C (n.3044-32T>C) | gnomAD v4 |
| 17 | g.8015895T= | CA2246121296 | GUCY2D | c.3044-32T= (n.3044-32T=) | |
| 17 | g.8015897C>A | CA2576160535 | GUCY2D | c.3044-30C>A (n.3044-30C>A) | |
| 17 | g.8015897C= | CA2246121298 | GUCY2D | c.3044-30C= (n.3044-30C=) | |
| 17 | g.8015897C>T | CA2246121299 | GUCY2D | c.3044-30C>T (n.3044-30C>T) | dbSNP gnomAD v4 |
| 17 | g.8015898C>A | CA2246121301 | GUCY2D | c.3044-29C>A (n.3044-29C>A) | dbSNP |
| 17 | g.8015898C= | CA2246121300 | GUCY2D | c.3044-29C= (n.3044-29C=) | |
| 17 | g.8015898C>G | CA2635955228 | GUCY2D | c.3044-29C>G (n.3044-29C>G) | gnomAD v4 |
| 17 | g.8015898C>T | CA8366297 | GUCY2D | c.3044-29C>T (n.3044-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015899G>A | CA981232862 | GUCY2D | c.3044-28G>A (n.3044-28G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015899G>C | CA2246121305 | GUCY2D | c.3044-28G>C (n.3044-28G>C) | dbSNP |
| 17 | g.8015899G= | CA2246121304 | GUCY2D | c.3044-28G= (n.3044-28G=) | |
| 17 | g.8015899G>T | CA2635955237 | GUCY2D | c.3044-28G>T (n.3044-28G>T) | gnomAD v4 |
| 17 | g.8015901G>A | CA2635955242 | GUCY2D | c.3044-26G>A (n.3044-26G>A) | gnomAD v4 |
| 17 | g.8015904C>A | CA2635955244 | GUCY2D | c.3044-23C>A (n.3044-23C>A) | gnomAD v4 |
| 17 | g.8015904C>G | CA2635955246 | GUCY2D | c.3044-23C>G (n.3044-23C>G) | gnomAD v4 |
| 17 | g.8015904C>T | CA2576160536 | GUCY2D | c.3044-23C>T (n.3044-23C>T) | |
| 17 | g.8015906C>A | CA8366298 | GUCY2D | c.3044-21C>A (n.3044-21C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015906C= | CA2246121307 | GUCY2D | c.3044-21C= (n.3044-21C=) | |
| 17 | g.8015906C>T | CA2635955249 | GUCY2D | c.3044-21C>T (n.3044-21C>T) | gnomAD v4 |
| 17 | g.8015907G>A | CA8366299 | GUCY2D | c.3044-20G>A (n.3044-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015907G>C | CA2635955253 | GUCY2D | c.3044-20G>C (n.3044-20G>C) | gnomAD v4 |
| 17 | g.8015907G= | CA2246121310 | GUCY2D | c.3044-20G= (n.3044-20G=) | |
| 17 | g.8015908G>A | CA2246121312 | GUCY2D | c.3044-19G>A (n.3044-19G>A) | dbSNP |
| 17 | g.8015908G= | CA2246121311 | GUCY2D | c.3044-19G= (n.3044-19G=) | |
| 17 | g.8015909C= | CA2246121314 | GUCY2D | c.3044-18C= (n.3044-18C=) | |
| 17 | g.8015909C>T | CA656511403 | GUCY2D | c.3044-18C>T (n.3044-18C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.8015910_8015922del | CA2808381796 | GUCY2D | c.3044-17_3044-5del (n.3044-17_3044-5del) | |
| 17 | g.8015910G>A | CA981232865 | GUCY2D | c.3044-17G>A (n.3044-17G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015910G>C | CA2732978672 | GUCY2D | c.3044-17G>C (n.3044-17G>C) | dbSNP |
| 17 | g.8015910G= | CA2246121316 | GUCY2D | c.3044-17G= (n.3044-17G=) | |
| 17 | g.8015910G>T | CA2838958484 | GUCY2D | c.3044-17G>T (n.3044-17G>T) | |
| 17 | g.8015911T>C | CA8366300 | GUCY2D | c.3044-16T>C (n.3044-16T>C) | dbSNP ExAC gnomAD v4 |
| 17 | g.8015911T= | CA2246121319 | GUCY2D | c.3044-16T= (n.3044-16T=) | |
| 17 | g.8015912_8015929dup | CA2635955258 | GUCY2D | c.3044-15_3046dup | gnomAD v4 |
| 17 | g.8015912C= | CA2246121321 | GUCY2D | c.3044-15C= (n.3044-15C=) | |
| 17 | g.8015912C>G | CA2635955264 | GUCY2D | c.3044-15C>G (n.3044-15C>G) | gnomAD v4 |
| 17 | g.8015912C>T | CA8366301 | GUCY2D | c.3044-15C>T (n.3044-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015916del | CA2576160537 | GUCY2D | c.3044-11del (n.3044-11del) | |
| 17 | g.8015913C>A | CA2635955269 | GUCY2D | c.3044-14C>A (n.3044-14C>A) | gnomAD v4 |
| 17 | g.8015913C= | CA2246121324 | GUCY2D | c.3044-14C= (n.3044-14C=) | |
| 17 | g.8015913C>T | CA624868034 | GUCY2D | c.3044-14C>T (n.3044-14C>T) | dbSNP gnomAD v2 |
| 17 | g.8015914C>A | CA981232866 | GUCY2D | c.3044-13C>A (n.3044-13C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015914C= | CA2246121327 | GUCY2D | c.3044-13C= (n.3044-13C=) | |
| 17 | g.8015915C>A | CA2808381800 | GUCY2D | c.3044-12C>A (n.3044-12C>A) | |
| 17 | g.8015915C>T | CA2635955272 | GUCY2D | c.3044-12C>T (n.3044-12C>T) | gnomAD v4 |
| 17 | g.8015916C>A | CA624868035 | GUCY2D | c.3044-11C>A (n.3044-11C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015916C= | CA2246121330 | GUCY2D | c.3044-11C= (n.3044-11C=) | |
| 17 | g.8015916C>T | CA2576160538 | GUCY2D | c.3044-11C>T (n.3044-11C>T) | |
| 17 | g.8015917del | CA2838958478 | GUCY2D | c.3044-10del (n.3044-10del) | |
| 17 | g.8015917A= | CA2246121334 | GUCY2D | c.3044-10A= (n.3044-10A=) | |
| 17 | g.8015917A>C | CA624868036 | GUCY2D | c.3044-10A>C (n.3044-10A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015917A>G | CA2740095261 | GUCY2D | c.3044-10A>G (n.3044-10A>G) | ClinVar |
| 17 | g.8015917A>T | CA2635955283 | GUCY2D | c.3044-10A>T (n.3044-10A>T) | gnomAD v4 |
| 17 | g.8015918C>A | CA775516648 | GUCY2D | c.3044-9C>A (n.3044-9C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015918C= | CA2246121335 | GUCY2D | c.3044-9C= (n.3044-9C=) | |
| 17 | g.8015919C>A | CA2635955287 | GUCY2D | c.3044-8C>A (n.3044-8C>A) | gnomAD v4 |
| 17 | g.8015919C= | CA2246121337 | GUCY2D | c.3044-8C= (n.3044-8C=) | |
| 17 | g.8015919C>T | CA981232873 | GUCY2D | c.3044-8C>T (n.3044-8C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015920G>A | CA287534359 | GUCY2D | c.3044-7G>A (n.3044-7G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015920G>C | CA2581292163 | GUCY2D | c.3044-7G>C (n.3044-7G>C) | |
| 17 | g.8015920G= | CA2246121343 | GUCY2D | c.3044-7G= (n.3044-7G=) | |
| 17 | g.8015920G>T | CA8366302 | GUCY2D | c.3044-7G>T (n.3044-7G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015922C= | CA2246121344 | GUCY2D | c.3044-5C= (n.3044-5C=) | |
| 17 | g.8015922C>T | CA624868037 | GUCY2D | c.3044-5C>T (n.3044-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015923A>G | CA2635955375 | GUCY2D | c.3044-4A>G (n.3044-4A>G) | gnomAD v4 |
| 17 | g.8015924C= | CA2246121347 | GUCY2D | c.3044-3C= (n.3044-3C=) | |
| 17 | g.8015924C>T | CA8366303 | GUCY2D | c.3044-3C>T (n.3044-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015925A>C | CA397955510 | GUCY2D | c.3044-2A>C (n.3044-2A>C) | |
| 17 | g.8015925A>G | CA397955512 | GUCY2D | c.3044-2A>G (n.3044-2A>G) | |
| 17 | g.8015925A>T | CA397955513 | GUCY2D | c.3044-2A>T (n.3044-2A>T) | |
| 17 | g.8015926G>A | CA397955517 | GUCY2D | c.3044-1G>A (n.3044-1G>A) | |
| 17 | g.8015926G>C | CA8366304 | GUCY2D | c.3044-1G>C (n.3044-1G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015926G= | CA2246121357 | GUCY2D | c.3044-1G= (n.3044-1G=) | |
| 17 | g.8015926G>T | CA397955514 | GUCY2D | c.3044-1G>T (n.3044-1G>T) | |
| 17 | g.8015927C>A | CA397955525 | GUCY2D | c.3044C>A (p.Pro1015His) | |
| 17 | g.8015927C>G | CA397955521 | GUCY2D | c.3044C>G (p.Pro1015Arg) | |
| 17 | g.8015927C>T | CA397955523 | GUCY2D | c.3044C>T (p.Pro1015Leu) | |
| 17 | g.8015928T>A | CA497753906 | GUCY2D | c.3045T>A (p.Pro1015=) | |
| 17 | g.8015928T>C | CA497753908 | GUCY2D | c.3045T>C (p.Pro1015=) | |
| 17 | g.8015928T>G | CA497753910 | GUCY2D | c.3045T>G (p.Pro1015=) | gnomAD v4 |
| 17 | g.8015929T>A | CA397955527 | GUCY2D | c.3046T>A (p.Tyr1016Asn) | dbSNP gnomAD v4 |
| 17 | g.8015929T>C | CA397955529 | GUCY2D | c.3046T>C (p.Tyr1016His) | |
| 17 | g.8015929T>G | CA397955531 | GUCY2D | c.3046T>G (p.Tyr1016Asp) | |
| 17 | g.8015929T= | CA2246121368 | GUCY2D | c.3046T= (p.Tyr1016=) | |
| 17 | g.8015930A>C | CA397955533 | GUCY2D | c.3047A>C (p.Tyr1016Ser) | |
| 17 | g.8015930A>G | CA397955535 | GUCY2D | c.3047A>G (p.Tyr1016Cys) | |
| 17 | g.8015930A>T | CA397955537 | GUCY2D | c.3047A>T (p.Tyr1016Phe) | |
| 17 | g.8015931C>A | CA397955539 | GUCY2D | c.3048C>A (p.Tyr1016Ter) | gnomAD v4 |
| 17 | g.8015931C>G | CA397955540 | GUCY2D | c.3048C>G (p.Tyr1016Ter) | |
| 17 | g.8015931C>T | CA497753920 | GUCY2D | c.3048C>T (p.Tyr1016=) | |
| 17 | g.8015932C>A | CA287534387 | GUCY2D | c.3049C>A (p.Arg1017Ser) | dbSNP gnomAD v4 |
| 17 | g.8015932C= | CA2246121374 | GUCY2D | c.3049C= (p.Arg1017=) | |
| 17 | g.8015932C>G | CA397955542 | GUCY2D | c.3049C>G (p.Arg1017Gly) | |
| 17 | g.8015932C>T | CA397955544 | GUCY2D | c.3049C>T (p.Arg1017Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015933G>A | CA397955549 | GUCY2D | c.3050G>A (p.Arg1017His) | gnomAD v4 |
| 17 | g.8015933G>C | CA397955546 | GUCY2D | c.3050G>C (p.Arg1017Pro) | |
| 17 | g.8015933G= | CA2246121377 | GUCY2D | c.3050G= (p.Arg1017=) | |
| 17 | g.8015933G>T | CA397955548 | GUCY2D | c.3050G>T (p.Arg1017Leu) | dbSNP gnomAD v4 |
| 17 | g.8015934C>A | CA8366305 | GUCY2D | c.3051C>A (p.Arg1017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015934C= | CA2246121381 | GUCY2D | c.3051C= (p.Arg1017=) | |
| 17 | g.8015934C>G | CA287534403 | GUCY2D | c.3051C>G (p.Arg1017=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015934C>T | CA8366306 | GUCY2D | c.3051C>T (p.Arg1017=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015935A>C | CA397955554 | GUCY2D | c.3052A>C (p.Ile1018Leu) | |
| 17 | g.8015935A>G | CA397955556 | GUCY2D | c.3052A>G (p.Ile1018Val) | |
| 17 | g.8015935A>T | CA397955558 | GUCY2D | c.3052A>T (p.Ile1018Phe) | |
| 17 | g.8015936T>A | CA397955559 | GUCY2D | c.3053T>A (p.Ile1018Asn) | |
| 17 | g.8015936T>C | CA397955560 | GUCY2D | c.3053T>C (p.Ile1018Thr) | |
| 17 | g.8015936T>G | CA397955561 | GUCY2D | c.3053T>G (p.Ile1018Ser) | |
| 17 | g.8015937C>A | CA497753940 | GUCY2D | c.3054C>A (p.Ile1018=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.8015937C>G | CA397955563 | GUCY2D | c.3054C>G (p.Ile1018Met) | |
| 17 | g.8015937C>T | CA497753942 | GUCY2D | c.3054C>T (p.Ile1018=) | |
| 17 | g.8015938C>A | CA226119 | GUCY2D | c.3055C>A (p.His1019Asn) | ClinVar dbSNP |
| 17 | g.8015938C= | CA2246121391 | GUCY2D | c.3055C= (p.His1019=) | |
| 17 | g.8015938C>G | CA397955564 | GUCY2D | c.3055C>G (p.His1019Asp) | |
| 17 | g.8015938C>T | CA397955565 | GUCY2D | c.3055C>T (p.His1019Tyr) | |
| 17 | g.8015938_8015947delinsACAG | CA2695224310 | GUCY2D | c.3055_3064delinsACAG (p.His1019_Leu1022delinsThrVal) | |
| 17 | g.8015939A= | CA2246121398 | GUCY2D | c.3056A= (p.His1019=) | |
| 17 | g.8015939A>C | CA397955568 | GUCY2D | c.3056A>C (p.His1019Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015939A>G | CA397955567 | GUCY2D | c.3056A>G (p.His1019Arg) | |
| 17 | g.8015939A>T | CA397955566 | GUCY2D | c.3056A>T (p.His1019Leu) | |
| 17 | g.8015940C>A | CA397955569 | GUCY2D | c.3057C>A (p.His1019Gln) | |
| 17 | g.8015940C= | CA2246121404 | GUCY2D | c.3057C= (p.His1019=) | |
| 17 | g.8015940C>G | CA397955570 | GUCY2D | c.3057C>G (p.His1019Gln) | |
| 17 | g.8015940C>T | CA8366307 | GUCY2D | c.3057C>T (p.His1019=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015941G>A | CA397955571 | GUCY2D | c.3058G>A (p.Val1020Met) | gnomAD v4 |
| 17 | g.8015941G>C | CA397955572 | GUCY2D | c.3058G>C (p.Val1020Leu) | |
| 17 | g.8015941G>T | CA397955573 | GUCY2D | c.3058G>T (p.Val1020Leu) | |
| 17 | g.8015942T>A | CA397955574 | GUCY2D | c.3059T>A (p.Val1020Glu) | |
| 17 | g.8015942T>C | CA397955575 | GUCY2D | c.3059T>C (p.Val1020Ala) | |
| 17 | g.8015942T>G | CA397955576 | GUCY2D | c.3059T>G (p.Val1020Gly) | |
| 17 | g.8015943G>A | CA497753966 | GUCY2D | c.3060G>A (p.Val1020=) | |
| 17 | g.8015943G>C | CA497753968 | GUCY2D | c.3060G>C (p.Val1020=) | dbSNP |
| 17 | g.8015943G= | CA2246121411 | GUCY2D | c.3060G= (p.Val1020=) | |
| 17 | g.8015943G>T | CA497753969 | GUCY2D | c.3060G>T (p.Val1020=) | |
| 17 | g.8015944A>C | CA397955577 | GUCY2D | c.3061A>C (p.Asn1021His) | |
| 17 | g.8015944A>G | CA397955578 | GUCY2D | c.3061A>G (p.Asn1021Asp) | |
| 17 | g.8015944A>T | CA397955579 | GUCY2D | c.3061A>T (p.Asn1021Tyr) | |
| 17 | g.8015944_8015946dup | CA2739290895 | GUCY2D | c.3061_3063dup (p.Asn1021_Leu1022insAsn) | |
| 17 | g.8015945A>C | CA397955580 | GUCY2D | c.3062A>C (p.Asn1021Thr) | |
| 17 | g.8015945A>G | CA397955581 | GUCY2D | c.3062A>G (p.Asn1021Ser) | |
| 17 | g.8015945A>T | CA397955582 | GUCY2D | c.3062A>T (p.Asn1021Ile) | |
| 17 | g.8015946C>A | CA397955583 | GUCY2D | c.3063C>A (p.Asn1021Lys) | |
| 17 | g.8015946C>G | CA397955584 | GUCY2D | c.3063C>G (p.Asn1021Lys) | |
| 17 | g.8015946C>T | CA497753980 | GUCY2D | c.3063C>T (p.Asn1021=) | gnomAD v4 |
| 17 | g.8015947T>A | CA397955586 | GUCY2D | c.3064T>A (p.Leu1022Met) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015947T>C | CA497753983 | GUCY2D | c.3064T>C (p.Leu1022=) | |
| 17 | g.8015947T>G | CA397955588 | GUCY2D | c.3064T>G (p.Leu1022Val) | |
| 17 | g.8015947T= | CA2246121416 | GUCY2D | c.3064T= (p.Leu1022=) |