| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8015755_8015783del | CA2695224308 | GUCY2D | c.2957_2985del (p.Ala986ValfsTer?) | |
| 17 | g.8015781C>A | CA497753851 | GUCY2D | c.2983C>A (p.Arg995=) | |
| 17 | g.8015781C= | CA2246120983 | GUCY2D | c.2983C= (p.Arg995=) | |
| 17 | g.8015781C>G | CA397955219 | GUCY2D | c.2983C>G (p.Arg995Gly) | |
| 17 | g.8015781C>T | CA226112 | GUCY2D | c.2983C>T (p.Arg995Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.8015782G>A | CA397955222 | GUCY2D | c.2984G>A (p.Arg995Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8015782G>C | CA8366275 | GUCY2D | c.2984G>C (p.Arg995Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8015782G= | CA2246120991 | GUCY2D | c.2984G= (p.Arg995=) | |
| 17 | g.8015782G>T | CA287534095 | GUCY2D | c.2984G>T (p.Arg995Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015783G>A | CA497753852 | GUCY2D | c.2985G>A (p.Arg995=) | gnomAD v4 |
| 17 | g.8015783G>C | CA497753853 | GUCY2D | c.2985G>C (p.Arg995=) | |
| 17 | g.8015783G>T | CA497753854 | GUCY2D | c.2985G>T (p.Arg995=) | |
| 17 | g.8015784T>A | CA397955227 | GUCY2D | c.2986T>A (p.Tyr996Asn) | |
| 17 | g.8015784T>C | CA397955229 | GUCY2D | c.2986T>C (p.Tyr996His) | |
| 17 | g.8015784T>G | CA397955230 | GUCY2D | c.2986T>G (p.Tyr996Asp) | |
| 17 | g.8015785A>C | CA397955236 | GUCY2D | c.2987A>C (p.Tyr996Ser) | |
| 17 | g.8015785A>G | CA397955233 | GUCY2D | c.2987A>G (p.Tyr996Cys) | gnomAD v4 |
| 17 | g.8015785A>T | CA397955235 | GUCY2D | c.2987A>T (p.Tyr996Phe) | |
| 17 | g.8015786C>A | CA397955239 | GUCY2D | c.2988C>A (p.Tyr996Ter) | |
| 17 | g.8015786C= | CA2246121008 | GUCY2D | c.2988C= (p.Tyr996=) | |
| 17 | g.8015786C>G | CA397955241 | GUCY2D | c.2988C>G (p.Tyr996Ter) | ClinVar dbSNP |
| 17 | g.8015786C>T | CA497753856 | GUCY2D | c.2988C>T (p.Tyr996=) | |
| 17 | g.8015787T>A | CA397955243 | GUCY2D | c.2989T>A (p.Cys997Ser) | |
| 17 | g.8015787T>C | CA397955245 | GUCY2D | c.2989T>C (p.Cys997Arg) | |
| 17 | g.8015787T>G | CA397955247 | GUCY2D | c.2989T>G (p.Cys997Gly) | |
| 17 | g.8015788G>A | CA397955249 | GUCY2D | c.2990G>A (p.Cys997Tyr) | gnomAD v4 |
| 17 | g.8015788G>C | CA397955251 | GUCY2D | c.2990G>C (p.Cys997Ser) | |
| 17 | g.8015788G= | CA2246121014 | GUCY2D | c.2990G= (p.Cys997=) | |
| 17 | g.8015788G>T | CA287534097 | GUCY2D | c.2990G>T (p.Cys997Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015789C>A | CA397955254 | GUCY2D | c.2991C>A (p.Cys997Ter) | |
| 17 | g.8015789C= | CA2246121018 | GUCY2D | c.2991C= (p.Cys997=) | |
| 17 | g.8015789C>G | CA397955256 | GUCY2D | c.2991C>G (p.Cys997Trp) | |
| 17 | g.8015789C>T | CA287534099 | GUCY2D | c.2991C>T (p.Cys997=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8015790C>A | CA397955258 | GUCY2D | c.2992C>A (p.Leu998Met) | |
| 17 | g.8015790C>G | CA397955260 | GUCY2D | c.2992C>G (p.Leu998Val) | |
| 17 | g.8015790C>T | CA497753857 | GUCY2D | c.2992C>T (p.Leu998=) | ClinVar gnomAD v4 |
| 17 | g.8015791T>A | CA397955262 | GUCY2D | c.2993T>A (p.Leu998Gln) | |
| 17 | g.8015791T>C | CA397955264 | GUCY2D | c.2993T>C (p.Leu998Pro) | |
| 17 | g.8015791T>G | CA397955266 | GUCY2D | c.2993T>G (p.Leu998Arg) | |
| 17 | g.8015792G>A | CA287534102 | GUCY2D | c.2994G>A (p.Leu998=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015792G>C | CA287534101 | GUCY2D | c.2994G>C (p.Leu998=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8015792G= | CA2246121021 | GUCY2D | c.2994G= (p.Leu998=) | |
| 17 | g.8015792G>T | CA497753859 | GUCY2D | c.2994G>T (p.Leu998=) | |
| 17 | g.8015792_8015793delinsGT | CA2246121022 | GUCY2D | c.2994_2995delinsGT (p.Leu998=) | |
| 17 | g.8015793T>A | CA397955270 | GUCY2D | c.2995T>A (p.Phe999Ile) | |
| 17 | g.8015793T>C | CA397955271 | GUCY2D | c.2995T>C (p.Phe999Leu) | gnomAD v4 |
| 17 | g.8015793T>G | CA397955273 | GUCY2D | c.2995T>G (p.Phe999Val) | |
| 17 | g.8015795del | CA1139664116 | GUCY2D | c.2997del (p.Phe999LeufsTer22) | ClinVar dbSNP |
| 17 | g.8015794T>A | CA8366276 | GUCY2D | c.2996T>A (p.Phe999Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.8015794T>C | CA397955276 | GUCY2D | c.2996T>C (p.Phe999Ser) | gnomAD v4 |