17 | g.8015755_8015783del | CA2695224308 | GUCY2D | c.2957_2985del (p.Ala986ValfsTer?)
| |
17 | g.8015775A>C | CA397955196 | GUCY2D | c.2977A>C (p.Met993Leu)
| |
17 | g.8015775A>G | CA397955195 | GUCY2D | c.2977A>G (p.Met993Val)
| |
17 | g.8015775A>T | CA397955193 | GUCY2D | c.2977A>T (p.Met993Leu)
| |
17 | g.8015775_8015776delinsAT | CA2246120944 | GUCY2D | c.2977_2978delinsAT (p.Met993=)
| |
17 | g.8015776del | CA915949558 | GUCY2D | c.2978del (p.Met993SerfsTer28)
| ClinVar dbSNP |
17 | g.8015776T>A | CA397955198 | GUCY2D | c.2978T>A (p.Met993Lys)
| |
17 | g.8015776T>C | CA397955201 | GUCY2D | c.2978T>C (p.Met993Thr)
| dbSNP |
17 | g.8015776T>G | CA397955199 | GUCY2D | c.2978T>G (p.Met993Arg)
| |
17 | g.8015776T= | CA2246120952 | GUCY2D | c.2978T= (p.Met993=)
| |
17 | g.8015777G>A | CA397955203 | GUCY2D | c.2979G>A (p.Met993Ile)
| |
17 | g.8015777G>C | CA397955207 | GUCY2D | c.2979G>C (p.Met993Ile)
| |
17 | g.8015777G>T | CA397955205 | GUCY2D | c.2979G>T (p.Met993Ile)
| gnomAD v4 |
17 | g.8015778C>A | CA397955208 | GUCY2D | c.2980C>A (p.Pro994Thr)
| |
17 | g.8015778C= | CA2246120963 | GUCY2D | c.2980C= (p.Pro994=)
| |
17 | g.8015778C>G | CA397955211 | GUCY2D | c.2980C>G (p.Pro994Ala)
| |
17 | g.8015778C>T | CA397955209 | GUCY2D | c.2980C>T (p.Pro994Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015779del | CA2635954988 | GUCY2D | c.2981del (p.Pro994ArgfsTer27)
| gnomAD v4 |
17 | g.8015779C>A | CA397955214 | GUCY2D | c.2981C>A (p.Pro994Gln)
| gnomAD v4 |
17 | g.8015779C>G | CA397955215 | GUCY2D | c.2981C>G (p.Pro994Arg)
| |
17 | g.8015779C>T | CA397955217 | GUCY2D | c.2981C>T (p.Pro994Leu)
| |
17 | g.8015780G>A | CA287534084 | GUCY2D | c.2982G>A (p.Pro994=)
| dbSNP gnomAD v4 |
17 | g.8015780G>C | CA497753849 | GUCY2D | c.2982G>C (p.Pro994=)
| gnomAD v4 |
17 | g.8015780G= | CA2246120973 | GUCY2D | c.2982G= (p.Pro994=)
| |
17 | g.8015780G>T | CA497753850 | GUCY2D | c.2982G>T (p.Pro994=)
| |
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)
| 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 |
17 | g.8015794T>G | CA397955278 | GUCY2D | c.2996T>G (p.Phe999Cys)
| |
17 | g.8015794T= | CA2246121031 | GUCY2D | c.2996T= (p.Phe999=)
| |
17 | g.8015795T>A | CA397955280 | GUCY2D | c.2997T>A (p.Phe999Leu)
| |
17 | g.8015795T>C | CA497753861 | GUCY2D | c.2997T>C (p.Phe999=)
| |
17 | g.8015795T>G | CA397955282 | GUCY2D | c.2997T>G (p.Phe999Leu)
| |
17 | g.8015796G>A | CA397955287 | GUCY2D | c.2998G>A (p.Gly1000Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015796G>C | CA397955284 | GUCY2D | c.2998G>C (p.Gly1000Arg)
| |
17 | g.8015796G= | CA2246121033 | GUCY2D | c.2998G= (p.Gly1000=)
| |
17 | g.8015796G>T | CA397955286 | GUCY2D | c.2998G>T (p.Gly1000Trp)
| |
17 | g.8015797G>A | CA397955289 | GUCY2D | c.2999G>A (p.Gly1000Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015797G>C | CA397955291 | GUCY2D | c.2999G>C (p.Gly1000Ala)
| |
17 | g.8015797G= | CA2246121038 | GUCY2D | c.2999G= (p.Gly1000=)
| |
17 | g.8015797G>T | CA397955293 | GUCY2D | c.2999G>T (p.Gly1000Val)
| |
17 | g.8015798G>A | CA497753863 | GUCY2D | c.3000G>A (p.Gly1000=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015798G>C | CA497753864 | GUCY2D | c.3000G>C (p.Gly1000=)
| |
17 | g.8015798G= | CA2246121045 | GUCY2D | c.3000G= (p.Gly1000=)
| |
17 | g.8015798G>T | CA497753862 | GUCY2D | c.3000G>T (p.Gly1000=)
| gnomAD v4 |
17 | g.8015799G>A | CA397955294 | GUCY2D | c.3001G>A (p.Asp1001Asn)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015799G>C | CA397955296 | GUCY2D | c.3001G>C (p.Asp1001His)
| gnomAD v4 |
17 | g.8015799G= | CA2246121052 | GUCY2D | c.3001G= (p.Asp1001=)
| |
17 | g.8015799G>T | CA397955298 | GUCY2D | c.3001G>T (p.Asp1001Tyr)
| |
17 | g.8015800A>C | CA397955300 | GUCY2D | c.3002A>C (p.Asp1001Ala)
| |
17 | g.8015800A>G | CA397955302 | GUCY2D | c.3002A>G (p.Asp1001Gly)
| |
17 | g.8015800A>T | CA397955304 | GUCY2D | c.3002A>T (p.Asp1001Val)
| |
17 | g.8015801C>A | CA397955306 | GUCY2D | c.3003C>A (p.Asp1001Glu)
| |
17 | g.8015801C>G | CA397955308 | GUCY2D | c.3003C>G (p.Asp1001Glu)
| |
17 | g.8015801C>T | CA497753866 | GUCY2D | c.3003C>T (p.Asp1001=)
| gnomAD v4 |
17 | g.8015802A>C | CA397955312 | GUCY2D | c.3004A>C (p.Thr1002Pro)
| ClinVar |
17 | g.8015802A>G | CA397955314 | GUCY2D | c.3004A>G (p.Thr1002Ala)
| |
17 | g.8015802A>T | CA397955310 | GUCY2D | c.3004A>T (p.Thr1002Ser)
| |
17 | g.8015803C>A | CA397955320 | GUCY2D | c.3005C>A (p.Thr1002Lys)
| |
17 | g.8015803C= | CA2246121054 | GUCY2D | c.3005C= (p.Thr1002=)
| |
17 | g.8015803C>G | CA397955316 | GUCY2D | c.3005C>G (p.Thr1002Arg)
| gnomAD v4 |
17 | g.8015803C>T | CA397955318 | GUCY2D | c.3005C>T (p.Thr1002Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015804G>A | CA8366277 | GUCY2D | c.3006G>A (p.Thr1002=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015804G>C | CA497753869 | GUCY2D | c.3006G>C (p.Thr1002=)
| |
17 | g.8015804G= | CA2246121059 | GUCY2D | c.3006G= (p.Thr1002=)
| |
17 | g.8015804G>T | CA497753867 | GUCY2D | c.3006G>T (p.Thr1002=)
| gnomAD v4 |
17 | g.8015805G>A | CA397955322 | GUCY2D | c.3007G>A (p.Val1003Ile)
| |
17 | g.8015805G>C | CA397955324 | GUCY2D | c.3007G>C (p.Val1003Leu)
| |
17 | g.8015805G= | CA2246121061 | GUCY2D | c.3007G= (p.Val1003=)
| |
17 | g.8015805G>T | CA397955326 | GUCY2D | c.3007G>T (p.Val1003Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015806T>A | CA397955328 | GUCY2D | c.3008T>A (p.Val1003Asp)
| |
17 | g.8015806T>C | CA397955329 | GUCY2D | c.3008T>C (p.Val1003Ala)
| |
17 | g.8015806T>G | CA397955331 | GUCY2D | c.3008T>G (p.Val1003Gly)
| |
17 | g.8015807C>A | CA497753870 | GUCY2D | c.3009C>A (p.Val1003=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015807C= | CA2246121065 | GUCY2D | c.3009C= (p.Val1003=)
| |
17 | g.8015807C>G | CA497753871 | GUCY2D | c.3009C>G (p.Val1003=)
| |
17 | g.8015807C>T | CA497753872 | GUCY2D | c.3009C>T (p.Val1003=)
| ClinVar dbSNP |
17 | g.8015808A>C | CA397955333 | GUCY2D | c.3010A>C (p.Asn1004His)
| |
17 | g.8015808A>G | CA397955335 | GUCY2D | c.3010A>G (p.Asn1004Asp)
| gnomAD v4 |
17 | g.8015808A>T | CA397955337 | GUCY2D | c.3010A>T (p.Asn1004Tyr)
| |
17 | g.8015809A>C | CA397955343 | GUCY2D | c.3011A>C (p.Asn1004Thr)
| |
17 | g.8015809A>G | CA397955342 | GUCY2D | c.3011A>G (p.Asn1004Ser)
| |
17 | g.8015809A>T | CA397955340 | GUCY2D | c.3011A>T (p.Asn1004Ile)
| |
17 | g.8015810C>A | CA397955344 | GUCY2D | c.3012C>A (p.Asn1004Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015810C= | CA2246121071 | GUCY2D | c.3012C= (p.Asn1004=)
| |
17 | g.8015810C>G | CA397955345 | GUCY2D | c.3012C>G (p.Asn1004Lys)
| |
17 | g.8015810C>T | CA8366278 | GUCY2D | c.3012C>T (p.Asn1004=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015811A>C | CA397955347 | GUCY2D | c.3013A>C (p.Thr1005Pro)
| |
17 | g.8015811A>G | CA397955349 | GUCY2D | c.3013A>G (p.Thr1005Ala)
| |
17 | g.8015811A>T | CA397955351 | GUCY2D | c.3013A>T (p.Thr1005Ser)
| |
17 | g.8015812C>A | CA397955353 | GUCY2D | c.3014C>A (p.Thr1005Asn)
| |
17 | g.8015812C= | CA2246121084 | GUCY2D | c.3014C= (p.Thr1005=)
| |
17 | g.8015812C>G | CA397955355 | GUCY2D | c.3014C>G (p.Thr1005Ser)
| gnomAD v4 |
17 | g.8015812C>T | CA8366279 | GUCY2D | c.3014C>T (p.Thr1005Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015813C>A | CA497753876 | GUCY2D | c.3015C>A (p.Thr1005=)
| dbSNP gnomAD v2 |
17 | g.8015813C= | CA2246121090 | GUCY2D | c.3015C= (p.Thr1005=)
| |
17 | g.8015813C>G | CA497753877 | GUCY2D | c.3015C>G (p.Thr1005=)
| |
17 | g.8015813C>T | CA497753878 | GUCY2D | c.3015C>T (p.Thr1005=)
| ClinVar gnomAD v4 |
17 | g.8015816_8015822del | CA2808381770 | GUCY2D | c.3018_3024del (p.Ser1007TrpfsTer12)
| |
17 | g.8015814G>A | CA397955358 | GUCY2D | c.3016G>A (p.Ala1006Thr)
| gnomAD v4 COSMIC |
17 | g.8015814G>C | CA397955360 | GUCY2D | c.3016G>C (p.Ala1006Pro)
| |
17 | g.8015814G>T | CA397955362 | GUCY2D | c.3016G>T (p.Ala1006Ser)
| gnomAD v4 |
17 | g.8015815C>A | CA397955368 | GUCY2D | c.3017C>A (p.Ala1006Asp)
| gnomAD v4 |
17 | g.8015815C>G | CA397955366 | GUCY2D | c.3017C>G (p.Ala1006Gly)
| |
17 | g.8015815C>T | CA397955364 | GUCY2D | c.3017C>T (p.Ala1006Val)
| |
17 | g.8015816C>A | CA497753879 | GUCY2D | c.3018C>A (p.Ala1006=)
| |
17 | g.8015816C>G | CA497753880 | GUCY2D | c.3018C>G (p.Ala1006=)
| ClinVar |
17 | g.8015816C>T | CA497753881 | GUCY2D | c.3018C>T (p.Ala1006=)
| ClinVar gnomAD v4 |
17 | g.8015817T>A | CA397955371 | GUCY2D | c.3019T>A (p.Ser1007Thr)
| |
17 | g.8015817T>C | CA397955373 | GUCY2D | c.3019T>C (p.Ser1007Pro)
| |
17 | g.8015817T>G | CA397955375 | GUCY2D | c.3019T>G (p.Ser1007Ala)
| |
17 | g.8015817_8015819delinsTCG | CA2246121093 | GUCY2D | c.3019_3021delinsTCG (p.Ser1007=)
| |
17 | g.8015818C>A | CA397955377 | GUCY2D | c.3020C>A (p.Ser1007Ter)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015818C= | CA2246121098 | GUCY2D | c.3020C= (p.Ser1007=)
| |
17 | g.8015818C>G | CA397955378 | GUCY2D | c.3020C>G (p.Ser1007Trp)
| gnomAD v4 |
17 | g.8015818C>T | CA397955379 | GUCY2D | c.3020C>T (p.Ser1007Leu)
| ClinVar gnomAD v4 |
17 | g.8015821_8015822del | CA2246121096 | GUCY2D | c.3023_3024del (p.Arg1008HisfsTer?)
| dbSNP |
17 | g.8015819G>A | CA287534144 | GUCY2D | c.3021G>A (p.Ser1007=)
| dbSNP gnomAD v4 |
17 | g.8015819G>C | CA497753883 | GUCY2D | c.3021G>C (p.Ser1007=)
| |
17 | g.8015819G= | CA2246121106 | GUCY2D | c.3021G= (p.Ser1007=)
| |
17 | g.8015819G>T | CA497753882 | GUCY2D | c.3021G>T (p.Ser1007=)
| |
17 | g.8015820C>A | CA397955382 | GUCY2D | c.3022C>A (p.Arg1008Ser)
| |
17 | g.8015820C>G | CA397955386 | GUCY2D | c.3022C>G (p.Arg1008Gly)
| |
17 | g.8015820C>T | CA397955384 | GUCY2D | c.3022C>T (p.Arg1008Cys)
| gnomAD v4 |
17 | g.8015821G>A | CA8366280 | GUCY2D | c.3023G>A (p.Arg1008His)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.8015821G>C | CA397955388 | GUCY2D | c.3023G>C (p.Arg1008Pro)
| |
17 | g.8015821G= | CA2246121110 | GUCY2D | c.3023G= (p.Arg1008=)
| |
17 | g.8015821G>T | CA397955390 | GUCY2D | c.3023G>T (p.Arg1008Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015822C>A | CA497753887 | GUCY2D | c.3024C>A (p.Arg1008=)
| |
17 | g.8015822C= | CA2246121114 | GUCY2D | c.3024C= (p.Arg1008=)
| |
17 | g.8015822C>G | CA497753888 | GUCY2D | c.3024C>G (p.Arg1008=)
| |
17 | g.8015822C>T | CA8366281 | GUCY2D | c.3024C>T (p.Arg1008=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015823A= | CA2246121121 | GUCY2D | c.3025A= (p.Met1009=)
| |
17 | g.8015823A>C | CA287534181 | GUCY2D | c.3025A>C (p.Met1009Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015823A>G | CA397955395 | GUCY2D | c.3025A>G (p.Met1009Val)
| gnomAD v4 |
17 | g.8015823A>T | CA226116 | GUCY2D | c.3025A>T (p.Met1009Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015824T>A | CA397955397 | GUCY2D | c.3026T>A (p.Met1009Lys)
| ClinVar dbSNP |
17 | g.8015824T>C | CA397955400 | GUCY2D | c.3026T>C (p.Met1009Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015824T>G | CA397955402 | GUCY2D | c.3026T>G (p.Met1009Arg)
| |
17 | g.8015824T= | CA2246121135 | GUCY2D | c.3026T= (p.Met1009=)
| |
17 | g.8015825G>A | CA397955404 | GUCY2D | c.3027G>A (p.Met1009Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015825G>C | CA397955406 | GUCY2D | c.3027G>C (p.Met1009Ile)
| |
17 | g.8015825G= | CA2246121140 | GUCY2D | c.3027G= (p.Met1009=)
| |
17 | g.8015825G>T | CA397955407 | GUCY2D | c.3027G>T (p.Met1009Ile)
| |
17 | g.8015826del | CA2695224309 | GUCY2D | c.3028del (p.Glu1010SerfsTer11)
| |
17 | g.8015825_8015826insAGTGTGCGT | CA981232794 | GUCY2D | c.3027_3028insAGTGTGCGT (p.Met1009_Glu1010insSerValArg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015826G>A | CA397955410 | GUCY2D | c.3028G>A (p.Glu1010Lys)
| |
17 | g.8015826G>C | CA397955412 | GUCY2D | c.3028G>C (p.Glu1010Gln)
| |
17 | g.8015826G= | CA2246121142 | GUCY2D | c.3028G= (p.Glu1010=)
| |
17 | g.8015826G>T | CA397955414 | GUCY2D | c.3028G>T (p.Glu1010Ter)
| gnomAD v4 |
17 | g.8015827A= | CA2246121145 | GUCY2D | c.3029A= (p.Glu1010=)
| |
17 | g.8015827A>C | CA397955416 | GUCY2D | c.3029A>C (p.Glu1010Ala)
| |
17 | g.8015827A>G | CA397955417 | GUCY2D | c.3029A>G (p.Glu1010Gly)
| |
17 | g.8015827A>T | CA397955419 | GUCY2D | c.3029A>T (p.Glu1010Val)
| |
17 | g.8015828G>A | CA497753889 | GUCY2D | c.3030G>A (p.Glu1010=)
| |
17 | g.8015828G>C | CA397955423 | GUCY2D | c.3030G>C (p.Glu1010Asp)
| |
17 | g.8015828G>T | CA397955421 | GUCY2D | c.3030G>T (p.Glu1010Asp)
| |
17 | g.8015828_8015829dup | CA981232797 | GUCY2D | c.3030_3031dup (p.Ser1011CysfsTer11)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015829T>A | CA397955425 | GUCY2D | c.3031T>A (p.Ser1011Thr)
| |
17 | g.8015829T>C | CA397955429 | GUCY2D | c.3031T>C (p.Ser1011Pro)
| |
17 | g.8015829T>G | CA397955427 | GUCY2D | c.3031T>G (p.Ser1011Ala)
| |
17 | g.8015829T= | CA2246121148 | GUCY2D | c.3031T= (p.Ser1011=)
| |
17 | g.8015829dup | CA2841476693 | GUCY2D | c.3031dup (p.Ser1011PhefsTer?)
| |
17 | g.8015829_8015830insGTCACGC | CA2246121150 | GUCY2D | c.3031_3032insGTCACGC (p.Ser1011CysfsTer?)
| dbSNP |
17 | g.8015830C>A | CA287534202 | GUCY2D | c.3032C>A (p.Ser1011Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015830C= | CA2246121152 | GUCY2D | c.3032C= (p.Ser1011=)
| |
17 | g.8015830C>G | CA397955434 | GUCY2D | c.3032C>G (p.Ser1011Cys)
| |
17 | g.8015830C>T | CA397955432 | GUCY2D | c.3032C>T (p.Ser1011Phe)
| ClinVar |
17 | g.8015830_8015831insACGCA | CA981232803 | GUCY2D | c.3032_3033insACGCA (p.Thr1012ArgfsTer11)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8015831C>A | CA497753890 | GUCY2D | c.3033C>A (p.Ser1011=)
| |
17 | g.8015831C>G | CA497753891 | GUCY2D | c.3033C>G (p.Ser1011=)
| |
17 | g.8015831C>T | CA497753892 | GUCY2D | c.3033C>T (p.Ser1011=)
| |
17 | g.8015832A>C | CA397955436 | GUCY2D | c.3034A>C (p.Thr1012Pro)
| |
17 | g.8015832A>G | CA397955438 | GUCY2D | c.3034A>G (p.Thr1012Ala)
| |
17 | g.8015832A>T | CA397955440 | GUCY2D | c.3034A>T (p.Thr1012Ser)
| |
17 | g.8015833C>A | CA397955442 | GUCY2D | c.3035C>A (p.Thr1012Asn)
| |
17 | g.8015833C>G | CA397955444 | GUCY2D | c.3035C>G (p.Thr1012Ser)
| |
17 | g.8015833C>T | CA397955446 | GUCY2D | c.3035C>T (p.Thr1012Ile)
| |
17 | g.8015834C>A | CA497753893 | GUCY2D | c.3036C>A (p.Thr1012=)
| |
17 | g.8015834C= | CA2246121159 | GUCY2D | c.3036C= (p.Thr1012=)
| |
17 | g.8015834C>G | CA8366282 | GUCY2D | c.3036C>G (p.Thr1012=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8015834C>T | CA287534218 | GUCY2D | c.3036C>T (p.Thr1012=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015835G>A | CA287534219 | GUCY2D | c.3037G>A (p.Gly1013Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015835G>C | CA397955451 | GUCY2D | c.3037G>C (p.Gly1013Arg)
| |
17 | g.8015835G= | CA2246121165 | GUCY2D | c.3037G= (p.Gly1013=)
| |
17 | g.8015835G>T | CA397955453 | GUCY2D | c.3037G>T (p.Gly1013Trp)
| |
17 | g.8015838_8015856dup | CA2635955084 | GUCY2D | c.3040_3043+15dup
| gnomAD v4 |
17 | g.8015836G>A | CA397955455 | GUCY2D | c.3038G>A (p.Gly1013Glu)
| ClinVar dbSNP |
17 | g.8015836G>C | CA397955459 | GUCY2D | c.3038G>C (p.Gly1013Ala)
| |
17 | g.8015836G= | CA2246121170 | GUCY2D | c.3038G= (p.Gly1013=)
| |
17 | g.8015836G>T | CA397955457 | GUCY2D | c.3038G>T (p.Gly1013Val)
| |
17 | g.8015837G>A | CA497753897 | GUCY2D | c.3039G>A (p.Gly1013=)
| |
17 | g.8015837G>C | CA497753898 | GUCY2D | c.3039G>C (p.Gly1013=)
| dbSNP |
17 | g.8015837G= | CA2246121173 | GUCY2D | c.3039G= (p.Gly1013=)
| |
17 | g.8015837G>T | CA497753899 | GUCY2D | c.3039G>T (p.Gly1013=)
| |
17 | g.8015838C>A | CA397955461 | GUCY2D | c.3040C>A (p.Leu1014Met)
| gnomAD v4 |
17 | g.8015838C= | CA2246121175 | GUCY2D | c.3040C= (p.Leu1014=)
| |
17 | g.8015838C>G | CA397955462 | GUCY2D | c.3040C>G (p.Leu1014Val)
| |
17 | g.8015838C>T | CA497753900 | GUCY2D | c.3040C>T (p.Leu1014=)
| dbSNP |
17 | g.8015839T>A | CA397955465 | GUCY2D | c.3041T>A (p.Leu1014Gln)
| |
17 | g.8015839T>C | CA397955466 | GUCY2D | c.3041T>C (p.Leu1014Pro)
| |
17 | g.8015839T>G | CA397955468 | GUCY2D | c.3041T>G (p.Leu1014Arg)
| |
17 | g.8015840G>A | CA8366283 | GUCY2D | c.3042G>A (p.Leu1014=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8015840G>C | CA497753903 | GUCY2D | c.3042G>C (p.Leu1014=)
| gnomAD v4 |
17 | g.8015840G= | CA2246121181 | GUCY2D | c.3042G= (p.Leu1014=)
| |
17 | g.8015840G>T | CA497753902 | GUCY2D | c.3042G>T (p.Leu1014=)
| |
17 | g.8015841C>A | CA397955472 | GUCY2D | c.3043C>A (p.Pro1015Thr)
| |
17 | g.8015841C= | CA2246121187 | GUCY2D | c.3043C= (p.Pro1015=)
| |
17 | g.8015841C>G | CA397955473 | GUCY2D | c.3043C>G (p.Pro1015Ala)
| |
17 | g.8015841C>T | CA397955475 | GUCY2D | c.3043C>T (p.Pro1015Ser)
| dbSNP gnomAD v2 |
17 | g.8015842G>A | CA397955479 | GUCY2D | c.3043+1G>A (n.3043+1G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015842G>C | CA397955481 | GUCY2D | c.3043+1G>C (n.3043+1G>C)
| |
17 | g.8015842G= | CA2246121190 | GUCY2D | c.3043+1G= (n.3043+1G=)
| |
17 | g.8015842G>T | CA397955477 | GUCY2D | c.3043+1G>T (n.3043+1G>T)
| |
17 | g.8015845_8015848del | CA2838032371 | GUCY2D | c.3043+4_3043+7del (n.3043+4_3043+7del)
| |
17 | g.8015843T>A | CA397955483 | GUCY2D | c.3043+2T>A (n.3043+2T>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8015843T>C | CA397955485 | GUCY2D | c.3043+2T>C (n.3043+2T>C)
| |
17 | g.8015843T>G | CA397955487 | GUCY2D | c.3043+2T>G (n.3043+2T>G)
| |
17 | g.8015843T= | CA2246121193 | GUCY2D | c.3043+2T= (n.3043+2T=)
| |
17 | g.8015844G>A | CA2635955093 | GUCY2D | c.3043+3G>A (n.3043+3G>A)
| gnomAD v4 |
17 | g.8015847_8015901del | CA2590216217 | GUCY2D | c.3043+6_3044-26del (n.3043+6_3044-26del)
| gnomAD v3 gnomAD v4 |
17 | g.8015845A= | CA2246121198 | GUCY2D | c.3043+4A= (n.3043+4A=)
| |
17 | g.8015845A>T | CA226118 | GUCY2D | c.3043+4A>T (n.3043+4A>T)
| ClinVar dbSNP |
17 | g.8015846G>A | CA287534244 | GUCY2D | c.3043+5G>A (n.3043+5G>A)
| ClinVar dbSNP gnomAD v4 |
17 | g.8015846G= | CA2246121203 | GUCY2D | c.3043+5G= (n.3043+5G=)
| |
17 | g.8015846G>T | CA2635955100 | GUCY2D | c.3043+5G>T (n.3043+5G>T)
| 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 |