17 | g.8012433_8012444delinsACCCTACCCATT | CA2246114212 | GUCY2D | c.1957-17_1957-6delinsACCCTACCCATT (n.1957-17_1957-6delinsACCCTACCCATT)
| |
17 | g.8012436_8012446del | CA8365956 | GUCY2D | c.1957-14_1957-4del (n.1957-14_1957-4del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012437T>C | CA624867884 | GUCY2D | c.1957-13T>C (n.1957-13T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012437T= | CA2246114224 | GUCY2D | c.1957-13T= (n.1957-13T=)
| |
17 | g.8012438A>G | CA2518399014 | GUCY2D | c.1957-12A>G (n.1957-12A>G)
| |
17 | g.8012439C>A | CA2635949838 | GUCY2D | c.1957-11C>A (n.1957-11C>A)
| gnomAD v4 |
17 | g.8012439C>T | CA2576160312 | GUCY2D | c.1957-11C>T (n.1957-11C>T)
| ClinVar gnomAD v4 |
17 | g.8012440C= | CA2246114225 | GUCY2D | c.1957-10C= (n.1957-10C=)
| |
17 | g.8012440C>T | CA2246114226 | GUCY2D | c.1957-10C>T (n.1957-10C>T)
| dbSNP |
17 | g.8012441C>A | CA624867885 | GUCY2D | c.1957-9C>A (n.1957-9C>A)
| ClinVar dbSNP gnomAD v2 |
17 | g.8012441C= | CA2246114227 | GUCY2D | c.1957-9C= (n.1957-9C=)
| |
17 | g.8012441C>G | CA2740095240 | GUCY2D | c.1957-9C>G (n.1957-9C>G)
| ClinVar |
17 | g.8012442del | CA2529689411 | GUCY2D | c.1957-8del (n.1957-8del)
| |
17 | g.8012442A= | CA2246114229 | GUCY2D | c.1957-8A= (n.1957-8A=)
| |
17 | g.8012442A>G | CA2635949839 | GUCY2D | c.1957-8A>G (n.1957-8A>G)
| gnomAD v4 |
17 | g.8012442A>T | CA2246114232 | GUCY2D | c.1957-8A>T (n.1957-8A>T)
| dbSNP |
17 | g.8012443T>C | CA2580095227 | GUCY2D | c.1957-7T>C (n.1957-7T>C)
| ClinVar |
17 | g.8012443T>G | CA2635949840 | GUCY2D | c.1957-7T>G (n.1957-7T>G)
| gnomAD v4 |
17 | g.8012447A= | CA2246114235 | GUCY2D | c.1957-3A= (n.1957-3A=)
| |
17 | g.8012447A>G | CA2246114236 | GUCY2D | c.1957-3A>G (n.1957-3A>G)
| dbSNP |
17 | g.8012448del | CA2556064664 | GUCY2D | c.1957-2del (n.1957-2del)
| |
17 | g.8012448A= | CA2246114237 | GUCY2D | c.1957-2A= (n.1957-2A=)
| |
17 | g.8012448A>C | CA397952008 | GUCY2D | c.1957-2A>C (n.1957-2A>C)
| gnomAD v4 |
17 | g.8012448A>G | CA287531123 | GUCY2D | c.1957-2A>G (n.1957-2A>G)
| ClinVar dbSNP |
17 | g.8012448A>T | CA397952011 | GUCY2D | c.1957-2A>T (n.1957-2A>T)
| |
17 | g.8012449G>A | CA226058 | GUCY2D | c.1957-1G>A (n.1957-1G>A)
| ClinVar dbSNP |
17 | g.8012449G>C | CA397952013 | GUCY2D | c.1957-1G>C (n.1957-1G>C)
| |
17 | g.8012449G= | CA2246114246 | GUCY2D | c.1957-1G= (n.1957-1G=)
| |
17 | g.8012449G>T | CA226059 | GUCY2D | c.1957-1G>T (n.1957-1G>T)
| ClinVar dbSNP |
17 | g.8012451del | CA2576160313 | GUCY2D | c.1958del
| |
17 | g.8012450G>A | CA226060 | GUCY2D | c.1957G>A (p.Gly653Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012450G>C | CA397952017 | GUCY2D | c.1957G>C (p.Gly653Arg)
| |
17 | g.8012450G= | CA2246114251 | GUCY2D | c.1957G= (p.Gly653=)
| |
17 | g.8012450G>T | CA397952019 | GUCY2D | c.1957G>T (p.Gly653Ter)
| |
17 | g.8012451G>A | CA287531141 | GUCY2D | c.1958G>A (p.Gly653Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012451G>C | CA397952021 | GUCY2D | c.1958G>C (p.Gly653Ala)
| |
17 | g.8012451G= | CA2246114260 | GUCY2D | c.1958G= (p.Gly653=)
| |
17 | g.8012451G>T | CA397952023 | GUCY2D | c.1958G>T (p.Gly653Val)
| |
17 | g.8012451_8012452delinsGA | CA2246114263 | GUCY2D | c.1958_1959delinsGA (p.Gly653=)
| |
17 | g.8012452A= | CA2246114270 | GUCY2D | c.1959A= (p.Gly653=)
| |
17 | g.8012452A>C | CA497953116 | GUCY2D | c.1959A>C (p.Gly653=)
| dbSNP |
17 | g.8012452A>G | CA497953117 | GUCY2D | c.1959A>G (p.Gly653=)
| |
17 | g.8012452A>T | CA497953119 | GUCY2D | c.1959A>T (p.Gly653=)
| |
17 | g.8012453del | CA624867886 | GUCY2D | c.1960del (p.Ile654Ter)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012453A>C | CA397952026 | GUCY2D | c.1960A>C (p.Ile654Leu)
| ClinVar |
17 | g.8012453A>G | CA397952028 | GUCY2D | c.1960A>G (p.Ile654Val)
| COSMIC |
17 | g.8012453A>T | CA397952029 | GUCY2D | c.1960A>T (p.Ile654Leu)
| |
17 | g.8012454T>A | CA397952032 | GUCY2D | c.1961T>A (p.Ile654Lys)
| |
17 | g.8012454T>C | CA8365957 | GUCY2D | c.1961T>C (p.Ile654Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012454T>G | CA397952034 | GUCY2D | c.1961T>G (p.Ile654Arg)
| |
17 | g.8012454T= | CA2246114276 | GUCY2D | c.1961T= (p.Ile654=)
| |
17 | g.8012455A>C | CA497953129 | GUCY2D | c.1962A>C (p.Ile654=)
| |
17 | g.8012455A>G | CA397952037 | GUCY2D | c.1962A>G (p.Ile654Met)
| |
17 | g.8012455A>T | CA497953126 | GUCY2D | c.1962A>T (p.Ile654=)
| |
17 | g.8012456del | CA2635949842 | GUCY2D | c.1963del (p.Arg655GlyfsTer13)
| gnomAD v4 |
17 | g.8012456A>C | CA497953130 | GUCY2D | c.1963A>C (p.Arg655=)
| gnomAD v4 |
17 | g.8012456A>G | CA397952039 | GUCY2D | c.1963A>G (p.Arg655Gly)
| |
17 | g.8012456A>T | CA397952041 | GUCY2D | c.1963A>T (p.Arg655Trp)
| |
17 | g.8012459_8012475del | CA2635949843 | GUCY2D | c.1966_1982del (p.Tyr656ArgfsTer23)
| gnomAD v4 |
17 | g.8012457G>A | CA8365958 | GUCY2D | c.1964G>A (p.Arg655Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012457G>C | CA397952044 | GUCY2D | c.1964G>C (p.Arg655Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012457G= | CA2246114279 | GUCY2D | c.1964G= (p.Arg655=)
| |
17 | g.8012457G>T | CA8365959 | GUCY2D | c.1964G>T (p.Arg655Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012458G>A | CA497953133 | GUCY2D | c.1965G>A (p.Arg655=)
| |
17 | g.8012458G>C | CA397952047 | GUCY2D | c.1965G>C (p.Arg655Ser)
| |
17 | g.8012458G>T | CA397952049 | GUCY2D | c.1965G>T (p.Arg655Ser)
| |
17 | g.8012459T>A | CA397952052 | GUCY2D | c.1966T>A (p.Tyr656Asn)
| |
17 | g.8012459T>C | CA397952053 | GUCY2D | c.1966T>C (p.Tyr656His)
| gnomAD v4 |
17 | g.8012459T>G | CA397952055 | GUCY2D | c.1966T>G (p.Tyr656Asp)
| |
17 | g.8012460A>C | CA397952057 | GUCY2D | c.1967A>C (p.Tyr656Ser)
| |
17 | g.8012460A>G | CA397952058 | GUCY2D | c.1967A>G (p.Tyr656Cys)
| gnomAD v4 |
17 | g.8012460A>T | CA397952059 | GUCY2D | c.1967A>T (p.Tyr656Phe)
| |
17 | g.8012461T>A | CA397952062 | GUCY2D | c.1968T>A (p.Tyr656Ter)
| |
17 | g.8012461T>C | CA497953139 | GUCY2D | c.1968T>C (p.Tyr656=)
| |
17 | g.8012461T>G | CA397952063 | GUCY2D | c.1968T>G (p.Tyr656Ter)
| |
17 | g.8012462C>A | CA397952064 | GUCY2D | c.1969C>A (p.Leu657Met)
| |
17 | g.8012462C>G | CA397952066 | GUCY2D | c.1969C>G (p.Leu657Val)
| |
17 | g.8012462C>T | CA497953141 | GUCY2D | c.1969C>T (p.Leu657=)
| |
17 | g.8012463T>A | CA397952069 | GUCY2D | c.1970T>A (p.Leu657Gln)
| |
17 | g.8012463T>C | CA397952070 | GUCY2D | c.1970T>C (p.Leu657Pro)
| gnomAD v4 |
17 | g.8012463T>G | CA397952072 | GUCY2D | c.1970T>G (p.Leu657Arg)
| |
17 | g.8012464G>A | CA497953144 | GUCY2D | c.1971G>A (p.Leu657=)
| |
17 | g.8012464G>C | CA497953149 | GUCY2D | c.1971G>C (p.Leu657=)
| |
17 | g.8012464G>T | CA497953151 | GUCY2D | c.1971G>T (p.Leu657=)
| |
17 | g.8012465C>A | CA397952074 | GUCY2D | c.1972C>A (p.His658Asn)
| |
17 | g.8012465C= | CA2246114289 | GUCY2D | c.1972C= (p.His658=)
| |
17 | g.8012465C>G | CA397952076 | GUCY2D | c.1972C>G (p.His658Asp)
| |
17 | g.8012465C>T | CA397952078 | GUCY2D | c.1972C>T (p.His658Tyr)
| ClinVar dbSNP |
17 | g.8012466A>C | CA397952080 | GUCY2D | c.1973A>C (p.His658Pro)
| |
17 | g.8012466A>G | CA397952084 | GUCY2D | c.1973A>G (p.His658Arg)
| |
17 | g.8012466A>T | CA397952082 | GUCY2D | c.1973A>T (p.His658Leu)
| |
17 | g.8012467C>A | CA397952086 | GUCY2D | c.1974C>A (p.His658Gln)
| ClinVar dbSNP |
17 | g.8012467C= | CA2246114299 | GUCY2D | c.1974C= (p.His658=)
| |
17 | g.8012467C>G | CA397952088 | GUCY2D | c.1974C>G (p.His658Gln)
| |
17 | g.8012467C>T | CA497953157 | GUCY2D | c.1974C>T (p.His658=)
| dbSNP gnomAD v4 |
17 | g.8012468C>A | CA397952090 | GUCY2D | c.1975C>A (p.His659Asn)
| |
17 | g.8012468C= | CA2246114321 | GUCY2D | c.1975C= (p.His659=)
| |
17 | g.8012468C>G | CA397952093 | GUCY2D | c.1975C>G (p.His659Asp)
| |
17 | g.8012468C>T | CA397952095 | GUCY2D | c.1975C>T (p.His659Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012469A= | CA2246114326 | GUCY2D | c.1976A= (p.His659=)
| |
17 | g.8012469A>C | CA397952098 | GUCY2D | c.1976A>C (p.His659Pro)
| |
17 | g.8012469A>G | CA8365960 | GUCY2D | c.1976A>G (p.His659Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012469A>T | CA397952104 | GUCY2D | c.1976A>T (p.His659Leu)
| |
17 | g.8012470T>A | CA397952106 | GUCY2D | c.1977T>A (p.His659Gln)
| |
17 | g.8012470T>C | CA497953163 | GUCY2D | c.1977T>C (p.His659=)
| ClinVar dbSNP |
17 | g.8012470T>G | CA397952108 | GUCY2D | c.1977T>G (p.His659Gln)
| |
17 | g.8012471C>A | CA497953167 | GUCY2D | c.1978C>A (p.Arg660=)
| |
17 | g.8012471C= | CA2246114337 | GUCY2D | c.1978C= (p.Arg660=)
| |
17 | g.8012471C>G | CA397952110 | GUCY2D | c.1978C>G (p.Arg660Gly)
| ClinVar dbSNP |
17 | g.8012471C>T | CA226062 | GUCY2D | c.1978C>T (p.Arg660Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012472G>A | CA226064 | GUCY2D | c.1979G>A (p.Arg660Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012472G>C | CA397952114 | GUCY2D | c.1979G>C (p.Arg660Pro)
| |
17 | g.8012472G= | CA2246114350 | GUCY2D | c.1979G= (p.Arg660=)
| |
17 | g.8012472G>T | CA397952112 | GUCY2D | c.1979G>T (p.Arg660Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012473A>C | CA497953170 | GUCY2D | c.1980A>C (p.Arg660=)
| |
17 | g.8012473A>G | CA497953171 | GUCY2D | c.1980A>G (p.Arg660=)
| |
17 | g.8012473A>T | CA497953172 | GUCY2D | c.1980A>T (p.Arg660=)
| |
17 | g.8012474G>A | CA397952116 | GUCY2D | c.1981G>A (p.Gly661Ser)
| |
17 | g.8012474G>C | CA397952118 | GUCY2D | c.1981G>C (p.Gly661Arg)
| dbSNP |
17 | g.8012474G= | CA2246114354 | GUCY2D | c.1981G= (p.Gly661=)
| |
17 | g.8012474G>T | CA397952120 | GUCY2D | c.1981G>T (p.Gly661Cys)
| |
17 | g.8012475G>A | CA397952122 | GUCY2D | c.1982G>A (p.Gly661Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012475G>C | CA397952124 | GUCY2D | c.1982G>C (p.Gly661Ala)
| |
17 | g.8012475G= | CA2246114368 | GUCY2D | c.1982G= (p.Gly661=)
| |
17 | g.8012475G>T | CA397952126 | GUCY2D | c.1982G>T (p.Gly661Val)
| |
17 | g.8012476C>A | CA497953176 | GUCY2D | c.1983C>A (p.Gly661=)
| |
17 | g.8012476C= | CA2246114374 | GUCY2D | c.1983C= (p.Gly661=)
| |
17 | g.8012476C>G | CA497953175 | GUCY2D | c.1983C>G (p.Gly661=)
| |
17 | g.8012476C>T | CA8365961 | GUCY2D | c.1983C>T (p.Gly661=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012477G>A | CA8365962 | GUCY2D | c.1984G>A (p.Val662Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012477G>C | CA397952130 | GUCY2D | c.1984G>C (p.Val662Leu)
| |
17 | g.8012477G= | CA2246114384 | GUCY2D | c.1984G= (p.Val662=)
| |
17 | g.8012477G>T | CA397952132 | GUCY2D | c.1984G>T (p.Val662Leu)
| |
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)
| |