17 | g.8009388_8009451del | CA2808392540 | GUCY2D | c.1669-118_1669-55del (n.1669-118_1669-55del)
| |
17 | g.8009448C>A | CA2635958964 | GUCY2D | c.1669-58C>A (n.1669-58C>A)
| gnomAD v4 |
17 | g.8009448C>T | CA2576160254 | GUCY2D | c.1669-58C>T (n.1669-58C>T)
| |
17 | g.8009449T>C | CA2246094043 | GUCY2D | c.1669-57T>C (n.1669-57T>C)
| dbSNP gnomAD v4 |
17 | g.8009449T= | CA2246094042 | GUCY2D | c.1669-57T= (n.1669-57T=)
| |
17 | g.8009450C>A | CA981227993 | GUCY2D | c.1669-56C>A (n.1669-56C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8009450C= | CA2246094044 | GUCY2D | c.1669-56C= (n.1669-56C=)
| |
17 | g.8009450C>T | CA2635958967 | GUCY2D | c.1669-56C>T (n.1669-56C>T)
| gnomAD v4 |
17 | g.8009451C>A | CA2635958969 | GUCY2D | c.1669-55C>A (n.1669-55C>A)
| gnomAD v4 |
17 | g.8009452C>T | CA2635958970 | GUCY2D | c.1669-54C>T (n.1669-54C>T)
| gnomAD v4 |
17 | g.8009453C>A | CA2635958971 | GUCY2D | c.1669-53C>A (n.1669-53C>A)
| gnomAD v4 |
17 | g.8009453C>T | CA2635958972 | GUCY2D | c.1669-53C>T (n.1669-53C>T)
| gnomAD v4 |
17 | g.8009454A>C | CA2576160255 | GUCY2D | c.1669-52A>C (n.1669-52A>C)
| gnomAD v4 |
17 | g.8009455T>A | CA2635958975 | GUCY2D | c.1669-51T>A (n.1669-51T>A)
| gnomAD v4 |
17 | g.8009456C>A | CA2576160256 | GUCY2D | c.1669-50C>A (n.1669-50C>A)
| gnomAD v4 |
17 | g.8009456C= | CA2246094045 | GUCY2D | c.1669-50C= (n.1669-50C=)
| |
17 | g.8009456C>G | CA8365838 | GUCY2D | c.1669-50C>G (n.1669-50C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009456C>T | CA8365837 | GUCY2D | c.1669-50C>T (n.1669-50C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009457G>A | CA8365839 | GUCY2D | c.1669-49G>A (n.1669-49G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009457G>C | CA624724564 | GUCY2D | c.1669-49G>C (n.1669-49G>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009457G= | CA2246094046 | GUCY2D | c.1669-49G= (n.1669-49G=)
| |
17 | g.8009457G>T | CA8365840 | GUCY2D | c.1669-49G>T (n.1669-49G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009458T>C | CA8365841 | GUCY2D | c.1669-48T>C (n.1669-48T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009458T= | CA2246094047 | GUCY2D | c.1669-48T= (n.1669-48T=)
| |
17 | g.8009459G>A | CA8365842 | GUCY2D | c.1669-47G>A (n.1669-47G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009459G>C | CA624724565 | GUCY2D | c.1669-47G>C (n.1669-47G>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009459G= | CA2246094048 | GUCY2D | c.1669-47G= (n.1669-47G=)
| |
17 | g.8009459G>T | CA2576160258 | GUCY2D | c.1669-47G>T (n.1669-47G>T)
| |
17 | g.8009461del | CA2576160257 | GUCY2D | c.1669-45del (n.1669-45del)
| gnomAD v4 |
17 | g.8009460G>A | CA624724566 | GUCY2D | c.1669-46G>A (n.1669-46G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009460G>C | CA2635958994 | GUCY2D | c.1669-46G>C (n.1669-46G>C)
| gnomAD v4 |
17 | g.8009460G= | CA2246094049 | GUCY2D | c.1669-46G= (n.1669-46G=)
| |
17 | g.8009460G>T | CA656705339 | GUCY2D | c.1669-46G>T (n.1669-46G>T)
| COSMIC |
17 | g.8009461G>A | CA775510838 | GUCY2D | c.1669-45G>A (n.1669-45G>A)
| dbSNP |
17 | g.8009461G= | CA2246094050 | GUCY2D | c.1669-45G= (n.1669-45G=)
| |
17 | g.8009461G>T | CA2576160259 | GUCY2D | c.1669-45G>T (n.1669-45G>T)
| |
17 | g.8009462A>T | CA2635958997 | GUCY2D | c.1669-44A>T (n.1669-44A>T)
| gnomAD v4 |
17 | g.8009466T>G | CA624724567 | GUCY2D | c.1669-40T>G (n.1669-40T>G)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009466T= | CA2246094051 | GUCY2D | c.1669-40T= (n.1669-40T=)
| |
17 | g.8009467A= | CA2246094052 | GUCY2D | c.1669-39A= (n.1669-39A=)
| |
17 | g.8009467A>G | CA8365843 | GUCY2D | c.1669-39A>G (n.1669-39A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009467A>T | CA2576160260 | GUCY2D | c.1669-39A>T (n.1669-39A>T)
| |
17 | g.8009468A>G | CA2635959001 | GUCY2D | c.1669-38A>G (n.1669-38A>G)
| gnomAD v4 |
17 | g.8009469G>A | CA624724568 | GUCY2D | c.1669-37G>A (n.1669-37G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009469G= | CA2246094053 | GUCY2D | c.1669-37G= (n.1669-37G=)
| |
17 | g.8009470A>T | CA2808392557 | GUCY2D | c.1669-36A>T (n.1669-36A>T)
| |
17 | g.8009471G>A | CA2635959003 | GUCY2D | c.1669-35G>A (n.1669-35G>A)
| gnomAD v4 |
17 | g.8009471G= | CA2246094054 | GUCY2D | c.1669-35G= (n.1669-35G=)
| |
17 | g.8009471G>T | CA8365844 | GUCY2D | c.1669-35G>T (n.1669-35G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009473C>A | CA2635959004 | GUCY2D | c.1669-33C>A (n.1669-33C>A)
| gnomAD v4 |
17 | g.8009473C>T | CA2635959005 | GUCY2D | c.1669-33C>T (n.1669-33C>T)
| gnomAD v4 |
17 | g.8009474T>C | CA2635959006 | GUCY2D | c.1669-32T>C (n.1669-32T>C)
| gnomAD v4 |
17 | g.8009474T>G | CA2576160261 | GUCY2D | c.1669-32T>G (n.1669-32T>G)
| |
17 | g.8009474dup | CA2635959007 | GUCY2D | c.1669-32dup (n.1669-32dup)
| gnomAD v4 |
17 | g.8009475G>A | CA2635959053 | GUCY2D | c.1669-31G>A (n.1669-31G>A)
| gnomAD v4 |
17 | g.8009476A= | CA2246094055 | GUCY2D | c.1669-30A= (n.1669-30A=)
| |
17 | g.8009476A>G | CA8365846 | GUCY2D | c.1669-30A>G (n.1669-30A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009476A>T | CA8365845 | GUCY2D | c.1669-30A>T (n.1669-30A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009477G>A | CA2635959061 | GUCY2D | c.1669-29G>A (n.1669-29G>A)
| gnomAD v4 |
17 | g.8009477G>T | CA2635959062 | GUCY2D | c.1669-29G>T (n.1669-29G>T)
| gnomAD v4 |
17 | g.8009478T>C | CA2635959065 | GUCY2D | c.1669-28T>C (n.1669-28T>C)
| gnomAD v4 |
17 | g.8009478T>G | CA287526823 | GUCY2D | c.1669-28T>G (n.1669-28T>G)
| dbSNP |
17 | g.8009478T= | CA2246094056 | GUCY2D | c.1669-28T= (n.1669-28T=)
| |
17 | g.8009479del | CA2576160262 | GUCY2D | c.1669-27del (n.1669-27del)
| |
17 | g.8009479T>C | CA775510857 | GUCY2D | c.1669-27T>C (n.1669-27T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8009479T= | CA2246094057 | GUCY2D | c.1669-27T= (n.1669-27T=)
| |
17 | g.8009480C>A | CA2576160263 | GUCY2D | c.1669-26C>A (n.1669-26C>A)
| gnomAD v4 |
17 | g.8009480C>T | CA2635959071 | GUCY2D | c.1669-26C>T (n.1669-26C>T)
| gnomAD v4 |
17 | g.8009481C>A | CA2635959074 | GUCY2D | c.1669-25C>A (n.1669-25C>A)
| gnomAD v4 |
17 | g.8009482C>A | CA2635959078 | GUCY2D | c.1669-24C>A (n.1669-24C>A)
| gnomAD v4 |
17 | g.8009482C= | CA2246094058 | GUCY2D | c.1669-24C= (n.1669-24C=)
| |
17 | g.8009482C>T | CA981228013 | GUCY2D | c.1669-24C>T (n.1669-24C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8009483T>A | CA624724569 | GUCY2D | c.1669-23T>A (n.1669-23T>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009483T>C | CA2635959080 | GUCY2D | c.1669-23T>C (n.1669-23T>C)
| gnomAD v4 |
17 | g.8009483T= | CA2246094059 | GUCY2D | c.1669-23T= (n.1669-23T=)
| |
17 | g.8009484A>G | CA2635959081 | GUCY2D | c.1669-22A>G (n.1669-22A>G)
| dbSNP gnomAD v4 |
17 | g.8009484A>T | CA2635959082 | GUCY2D | c.1669-22A>T (n.1669-22A>T)
| gnomAD v4 |
17 | g.8009485C>A | CA287526835 | GUCY2D | c.1669-21C>A (n.1669-21C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009485C= | CA2246094060 | GUCY2D | c.1669-21C= (n.1669-21C=)
| |
17 | g.8009485C>T | CA287526839 | GUCY2D | c.1669-21C>T (n.1669-21C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009489dup | CA2635959084 | GUCY2D | c.1669-17dup (n.1669-17dup)
| gnomAD v4 |
17 | g.8009489del | CA2576160264 | GUCY2D | c.1669-17del (n.1669-17del)
| gnomAD v4 |
17 | g.8009486C>A | CA2576160265 | GUCY2D | c.1669-20C>A (n.1669-20C>A)
| gnomAD v4 |
17 | g.8009486C>T | CA2635959087 | GUCY2D | c.1669-20C>T (n.1669-20C>T)
| gnomAD v4 |
17 | g.8009487C>A | CA2510784164 | GUCY2D | c.1669-19C>A (n.1669-19C>A)
| gnomAD v4 |
17 | g.8009487C>G | CA2576160266 | GUCY2D | c.1669-19C>G (n.1669-19C>G)
| ClinVar gnomAD v4 |
17 | g.8009487C>T | CA2635959090 | GUCY2D | c.1669-19C>T (n.1669-19C>T)
| gnomAD v4 |
17 | g.8009488C>A | CA2635959095 | GUCY2D | c.1669-18C>A (n.1669-18C>A)
| ClinVar gnomAD v4 |
17 | g.8009488C= | CA2246094061 | GUCY2D | c.1669-18C= (n.1669-18C=)
| |
17 | g.8009488C>G | CA624724570 | GUCY2D | c.1669-18C>G (n.1669-18C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009488C>T | CA624724571 | GUCY2D | c.1669-18C>T (n.1669-18C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009489C>A | CA2635959102 | GUCY2D | c.1669-17C>A (n.1669-17C>A)
| gnomAD v4 |
17 | g.8009489C= | CA2246094062 | GUCY2D | c.1669-17C= (n.1669-17C=)
| |
17 | g.8009489C>T | CA8365847 | GUCY2D | c.1669-17C>T (n.1669-17C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009490A= | CA2246094063 | GUCY2D | c.1669-16A= (n.1669-16A=)
| |
17 | g.8009490A>G | CA2635959126 | GUCY2D | c.1669-16A>G (n.1669-16A>G)
| gnomAD v4 |
17 | g.8009490A>T | CA775510867 | GUCY2D | c.1669-16A>T (n.1669-16A>T)
| dbSNP gnomAD v4 |
17 | g.8009491T>A | CA2740095236 | GUCY2D | c.1669-15T>A (n.1669-15T>A)
| ClinVar |
17 | g.8009491T>C | CA2635959129 | GUCY2D | c.1669-15T>C (n.1669-15T>C)
| gnomAD v4 |
17 | g.8009492C>A | CA2576160267 | GUCY2D | c.1669-14C>A (n.1669-14C>A)
| ClinVar gnomAD v4 |
17 | g.8009492C= | CA2246094064 | GUCY2D | c.1669-14C= (n.1669-14C=)
| |
17 | g.8009492C>G | CA8365848 | GUCY2D | c.1669-14C>G (n.1669-14C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009492C>T | CA624724572 | GUCY2D | c.1669-14C>T (n.1669-14C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009493C>A | CA8365849 | GUCY2D | c.1669-13C>A (n.1669-13C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009493C= | CA2246094065 | GUCY2D | c.1669-13C= (n.1669-13C=)
| |
17 | g.8009493C>T | CA287526847 | GUCY2D | c.1669-13C>T (n.1669-13C>T)
| ClinVar dbSNP |
17 | g.8009495C= | CA2246094067 | GUCY2D | c.1669-11C= (n.1669-11C=)
| |
17 | g.8009495C>G | CA775510875 | GUCY2D | c.1669-11C>G (n.1669-11C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8009495C>T | CA2635959139 | GUCY2D | c.1669-11C>T (n.1669-11C>T)
| gnomAD v4 |
17 | g.8009495_8009497delinsCTT | CA2246094066 | GUCY2D | c.1669-11_1669-9delinsCTT (n.1669-11_1669-9delinsCTT)
| |
17 | g.8009498del | CA2576160268 | GUCY2D | c.1669-8del (n.1669-8del)
| |
17 | g.8009497_8009498del | CA8365850 | GUCY2D | c.1669-9_1669-8del (n.1669-9_1669-8del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009499del | CA2535386579 | GUCY2D | c.1669-7del (n.1669-7del)
| gnomAD v4 |
17 | g.8009499G= | CA2246094068 | GUCY2D | c.1669-7G= (n.1669-7G=)
| |
17 | g.8009499G>T | CA8365851 | GUCY2D | c.1669-7G>T (n.1669-7G>T)
| dbSNP ExAC gnomAD v2 |
17 | g.8009501T>C | CA624724576 | GUCY2D | c.1669-5T>C (n.1669-5T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009501T= | CA2246094069 | GUCY2D | c.1669-5T= (n.1669-5T=)
| |
17 | g.8009502G>A | CA2635959154 | GUCY2D | c.1669-4G>A (n.1669-4G>A)
| gnomAD v4 |
17 | g.8009502G= | CA2246094070 | GUCY2D | c.1669-4G= (n.1669-4G=)
| |
17 | g.8009502G>T | CA8365852 | GUCY2D | c.1669-4G>T (n.1669-4G>T)
| dbSNP ExAC |
17 | g.8009503C>A | CA8365853 | GUCY2D | c.1669-3C>A (n.1669-3C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009503C= | CA2246094071 | GUCY2D | c.1669-3C= (n.1669-3C=)
| |
17 | g.8009504A>C | CA397950417 | GUCY2D | c.1669-2A>C (n.1669-2A>C)
| |
17 | g.8009504A>G | CA397950418 | GUCY2D | c.1669-2A>G (n.1669-2A>G)
| gnomAD v4 |
17 | g.8009504A>T | CA397950419 | GUCY2D | c.1669-2A>T (n.1669-2A>T)
| |
17 | g.8009505G>A | CA397950420 | GUCY2D | c.1669-1G>A (n.1669-1G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009505G>C | CA397950421 | GUCY2D | c.1669-1G>C (n.1669-1G>C)
| |
17 | g.8009505G= | CA2246094072 | GUCY2D | c.1669-1G= (n.1669-1G=)
| |
17 | g.8009505G>T | CA397950422 | GUCY2D | c.1669-1G>T (n.1669-1G>T)
| |
17 | g.8009506G>A | CA397950423 | GUCY2D | c.1669G>A (p.Gly557Arg)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.8009506G>C | CA397950424 | GUCY2D | c.1669G>C (p.Gly557Arg)
| |
17 | g.8009506G= | CA2246094073 | GUCY2D | c.1669G= (p.Gly557=)
| |
17 | g.8009506G>T | CA397950425 | GUCY2D | c.1669G>T (p.Gly557Ter)
| |
17 | g.8009507G>A | CA397950426 | GUCY2D | c.1670G>A (p.Gly557Glu)
| |
17 | g.8009507G>C | CA397950427 | GUCY2D | c.1670G>C (p.Gly557Ala)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8009507G= | CA2246094074 | GUCY2D | c.1670G= (p.Gly557=)
| |
17 | g.8009507G>T | CA397950428 | GUCY2D | c.1670G>T (p.Gly557Val)
| |
17 | g.8009508A= | CA2246094075 | GUCY2D | c.1671A= (p.Gly557=)
| |
17 | g.8009508A>C | CA497750223 | GUCY2D | c.1671A>C (p.Gly557=)
| |
17 | g.8009508A>G | CA497750225 | GUCY2D | c.1671A>G (p.Gly557=)
| dbSNP |
17 | g.8009508A>T | CA497750226 | GUCY2D | c.1671A>T (p.Gly557=)
| dbSNP |
17 | g.8009509G>A | CA8365854 | GUCY2D | c.1672G>A (p.Asp558Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009509G>C | CA397950429 | GUCY2D | c.1672G>C (p.Asp558His)
| gnomAD v4 |
17 | g.8009509G= | CA2246094076 | GUCY2D | c.1672G= (p.Asp558=)
| |
17 | g.8009509G>T | CA397950430 | GUCY2D | c.1672G>T (p.Asp558Tyr)
| |
17 | g.8009510A>C | CA397950431 | GUCY2D | c.1673A>C (p.Asp558Ala)
| |
17 | g.8009510A>G | CA397950432 | GUCY2D | c.1673A>G (p.Asp558Gly)
| |
17 | g.8009510A>T | CA397950433 | GUCY2D | c.1673A>T (p.Asp558Val)
| |
17 | g.8009511C>A | CA397950434 | GUCY2D | c.1674C>A (p.Asp558Glu)
| |
17 | g.8009511C>G | CA397950435 | GUCY2D | c.1674C>G (p.Asp558Glu)
| |
17 | g.8009511C>T | CA497750234 | GUCY2D | c.1674C>T (p.Asp558=)
| COSMIC |
17 | g.8009512A>C | CA497750238 | GUCY2D | c.1675A>C (p.Arg559=)
| |
17 | g.8009512A>G | CA397950436 | GUCY2D | c.1675A>G (p.Arg559Gly)
| gnomAD v4 |
17 | g.8009512A>T | CA397950437 | GUCY2D | c.1675A>T (p.Arg559Trp)
| |
17 | g.8009513G>A | CA397950440 | GUCY2D | c.1676G>A (p.Arg559Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009513G>C | CA397950438 | GUCY2D | c.1676G>C (p.Arg559Thr)
| |
17 | g.8009513G= | CA2246094077 | GUCY2D | c.1676G= (p.Arg559=)
| |
17 | g.8009513G>T | CA397950439 | GUCY2D | c.1676G>T (p.Arg559Met)
| |
17 | g.8009514G>A | CA497750247 | GUCY2D | c.1677G>A (p.Arg559=)
| |
17 | g.8009514G>C | CA397950441 | GUCY2D | c.1677G>C (p.Arg559Ser)
| |
17 | g.8009514G>T | CA397950442 | GUCY2D | c.1677G>T (p.Arg559Ser)
| |
17 | g.8009515G>A | CA397950443 | GUCY2D | c.1678G>A (p.Val560Ile)
| |
17 | g.8009515G>C | CA397950444 | GUCY2D | c.1678G>C (p.Val560Leu)
| |
17 | g.8009515G>T | CA397950445 | GUCY2D | c.1678G>T (p.Val560Phe)
| |
17 | g.8009516T>A | CA397950446 | GUCY2D | c.1679T>A (p.Val560Asp)
| |
17 | g.8009516T>C | CA397950448 | GUCY2D | c.1679T>C (p.Val560Ala)
| dbSNP |
17 | g.8009516T>G | CA397950447 | GUCY2D | c.1679T>G (p.Val560Gly)
| |
17 | g.8009516T= | CA2246094078 | GUCY2D | c.1679T= (p.Val560=)
| |
17 | g.8009518del | CA2635959188 | GUCY2D | c.1681del (p.Trp561GlyfsTer2)
| gnomAD v4 |
17 | g.8009517T>A | CA497750256 | GUCY2D | c.1680T>A (p.Val560=)
| |
17 | g.8009517T>C | CA497750260 | GUCY2D | c.1680T>C (p.Val560=)
| |
17 | g.8009517T>G | CA497750258 | GUCY2D | c.1680T>G (p.Val560=)
| |
17 | g.8009518T>A | CA397950449 | GUCY2D | c.1681T>A (p.Trp561Arg)
| |
17 | g.8009518T>C | CA397950450 | GUCY2D | c.1681T>C (p.Trp561Arg)
| |
17 | g.8009518T>G | CA397950451 | GUCY2D | c.1681T>G (p.Trp561Gly)
| |
17 | g.8009519G>A | CA397950452 | GUCY2D | c.1682G>A (p.Trp561Ter)
| |
17 | g.8009519G>C | CA397950453 | GUCY2D | c.1682G>C (p.Trp561Ser)
| |
17 | g.8009519G>T | CA397950454 | GUCY2D | c.1682G>T (p.Trp561Leu)
| |
17 | g.8009520G>A | CA397950455 | GUCY2D | c.1683G>A (p.Trp561Ter)
| |
17 | g.8009520G>C | CA397950456 | GUCY2D | c.1683G>C (p.Trp561Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009520G= | CA2246094079 | GUCY2D | c.1683G= (p.Trp561=)
| |
17 | g.8009520G>T | CA397950457 | GUCY2D | c.1683G>T (p.Trp561Cys)
| |
17 | g.8009521C>A | CA397950458 | GUCY2D | c.1684C>A (p.Leu562Met)
| |
17 | g.8009521C>G | CA397950459 | GUCY2D | c.1684C>G (p.Leu562Val)
| |
17 | g.8009521C>T | CA497750274 | GUCY2D | c.1684C>T (p.Leu562=)
| |
17 | g.8009522T>A | CA397950462 | GUCY2D | c.1685T>A (p.Leu562Gln)
| |
17 | g.8009522T>C | CA397950460 | GUCY2D | c.1685T>C (p.Leu562Pro)
| |
17 | g.8009522T>G | CA397950461 | GUCY2D | c.1685T>G (p.Leu562Arg)
| |
17 | g.8009523G>A | CA497750280 | GUCY2D | c.1686G>A (p.Leu562=)
| gnomAD v4 COSMIC |
17 | g.8009523G>C | CA497750282 | GUCY2D | c.1686G>C (p.Leu562=)
| |
17 | g.8009523G>T | CA497750284 | GUCY2D | c.1686G>T (p.Leu562=)
| |
17 | g.8009524A>C | CA397950463 | GUCY2D | c.1687A>C (p.Lys563Gln)
| |
17 | g.8009524A>G | CA397950464 | GUCY2D | c.1687A>G (p.Lys563Glu)
| |
17 | g.8009524A>T | CA397950465 | GUCY2D | c.1687A>T (p.Lys563Ter)
| |
17 | g.8009525A>C | CA397950466 | GUCY2D | c.1688A>C (p.Lys563Thr)
| |
17 | g.8009525A>G | CA397950467 | GUCY2D | c.1688A>G (p.Lys563Arg)
| |
17 | g.8009525A>T | CA397950468 | GUCY2D | c.1688A>T (p.Lys563Met)
| |
17 | g.8009526G>A | CA497750293 | GUCY2D | c.1689G>A (p.Lys563=)
| gnomAD v4 |
17 | g.8009526G>C | CA397950469 | GUCY2D | c.1689G>C (p.Lys563Asn)
| |
17 | g.8009526G>T | CA397950470 | GUCY2D | c.1689G>T (p.Lys563Asn)
| |
17 | g.8009527A>C | CA397950471 | GUCY2D | c.1690A>C (p.Lys564Gln)
| |
17 | g.8009527A>G | CA397950472 | GUCY2D | c.1690A>G (p.Lys564Glu)
| |
17 | g.8009527A>T | CA397950473 | GUCY2D | c.1690A>T (p.Lys564Ter)
| |
17 | g.8009528A>C | CA397950474 | GUCY2D | c.1691A>C (p.Lys564Thr)
| |
17 | g.8009528A>G | CA397950475 | GUCY2D | c.1691A>G (p.Lys564Arg)
| |
17 | g.8009528A>T | CA397950476 | GUCY2D | c.1691A>T (p.Lys564Ile)
| |
17 | g.8009529A>C | CA397950478 | GUCY2D | c.1692A>C (p.Lys564Asn)
| |
17 | g.8009529A>G | CA497750305 | GUCY2D | c.1692A>G (p.Lys564=)
| |
17 | g.8009529A>T | CA397950477 | GUCY2D | c.1692A>T (p.Lys564Asn)
| |
17 | g.8009530T>A | CA397950479 | GUCY2D | c.1693T>A (p.Phe565Ile)
| |
17 | g.8009530T>C | CA397950480 | GUCY2D | c.1693T>C (p.Phe565Leu)
| |
17 | g.8009530T>G | CA397950481 | GUCY2D | c.1693T>G (p.Phe565Val)
| |
17 | g.8009531T>A | CA397950482 | GUCY2D | c.1694T>A (p.Phe565Tyr)
| |
17 | g.8009531T>C | CA226054 | GUCY2D | c.1694T>C (p.Phe565Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.8009531T>G | CA397950483 | GUCY2D | c.1694T>G (p.Phe565Cys)
| |
17 | g.8009531T= | CA2246094080 | GUCY2D | c.1694T= (p.Phe565=)
| |
17 | g.8009532C>A | CA397950485 | GUCY2D | c.1695C>A (p.Phe565Leu)
| |
17 | g.8009532C>G | CA397950484 | GUCY2D | c.1695C>G (p.Phe565Leu)
| |
17 | g.8009532C>T | CA497750315 | GUCY2D | c.1695C>T (p.Phe565=)
| COSMIC |
17 | g.8009533C>A | CA397950486 | GUCY2D | c.1696C>A (p.Pro566Thr)
| |
17 | g.8009533C>G | CA397950487 | GUCY2D | c.1696C>G (p.Pro566Ala)
| |
17 | g.8009533C>T | CA397950488 | GUCY2D | c.1696C>T (p.Pro566Ser)
| |
17 | g.8009534C>A | CA397950489 | GUCY2D | c.1697C>A (p.Pro566Gln)
| |
17 | g.8009534C= | CA2246094081 | GUCY2D | c.1697C= (p.Pro566=)
| |
17 | g.8009534C>G | CA397950490 | GUCY2D | c.1697C>G (p.Pro566Arg)
| |
17 | g.8009534C>T | CA397950491 | GUCY2D | c.1697C>T (p.Pro566Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8009535A>C | CA497750325 | GUCY2D | c.1698A>C (p.Pro566=)
| |
17 | g.8009535A>G | CA497750327 | GUCY2D | c.1698A>G (p.Pro566=)
| |
17 | g.8009535A>T | CA497750329 | GUCY2D | c.1698A>T (p.Pro566=)
| |
17 | g.8009536G>A | CA8365855 | GUCY2D | c.1699G>A (p.Gly567Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009536G>C | CA397950493 | GUCY2D | c.1699G>C (p.Gly567Arg)
| gnomAD v4 |
17 | g.8009536G= | CA2246094082 | GUCY2D | c.1699G= (p.Gly567=)
| |
17 | g.8009536G>T | CA397950492 | GUCY2D | c.1699G>T (p.Gly567Trp)
| |
17 | g.8009537G>A | CA8365856 | GUCY2D | c.1700G>A (p.Gly567Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009537G>C | CA397950494 | GUCY2D | c.1700G>C (p.Gly567Ala)
| gnomAD v4 |
17 | g.8009537G= | CA2246094083 | GUCY2D | c.1700G= (p.Gly567=)
| |
17 | g.8009537G>T | CA397950495 | GUCY2D | c.1700G>T (p.Gly567Val)
| |
17 | g.8009538G>A | CA497750337 | GUCY2D | c.1701G>A (p.Gly567=)
| gnomAD v4 |
17 | g.8009538G>C | CA497750339 | GUCY2D | c.1701G>C (p.Gly567=)
| |
17 | g.8009538G>T | CA497750341 | GUCY2D | c.1701G>T (p.Gly567=)
| |
17 | g.8009539G>A | CA397950496 | GUCY2D | c.1702G>A (p.Asp568Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8009539G>C | CA8365857 | GUCY2D | c.1702G>C (p.Asp568His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8009539G= | CA2246094084 | GUCY2D | c.1702G= (p.Asp568=)
| |
17 | g.8009539G>T | CA397950497 | GUCY2D | c.1702G>T (p.Asp568Tyr)
| |
17 | g.8009540A= | CA2246094085 | GUCY2D | c.1703A= (p.Asp568=)
| |
17 | g.8009540A>C | CA397950500 | GUCY2D | c.1703A>C (p.Asp568Ala)
| |
17 | g.8009540A>G | CA397950498 | GUCY2D | c.1703A>G (p.Asp568Gly)
| |
17 | g.8009540A>T | CA397950499 | GUCY2D | c.1703A>T (p.Asp568Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009541T>A | CA397950501 | GUCY2D | c.1704T>A (p.Asp568Glu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8009541T>C | CA497750351 | GUCY2D | c.1704T>C (p.Asp568=)
| dbSNP |
17 | g.8009541T>G | CA397950502 | GUCY2D | c.1704T>G (p.Asp568Glu)
| |
17 | g.8009541T= | CA2246094086 | GUCY2D | c.1704T= (p.Asp568=)
| |
17 | g.8009542C>A | CA397950503 | GUCY2D | c.1705C>A (p.Gln569Lys)
| |
17 | g.8009542C>G | CA397950504 | GUCY2D | c.1705C>G (p.Gln569Glu)
| |
17 | g.8009542C>T | CA397950505 | GUCY2D | c.1705C>T (p.Gln569Ter)
| gnomAD v4 |
17 | g.8009543A>C | CA397950506 | GUCY2D | c.1706A>C (p.Gln569Pro)
| gnomAD v4 |
17 | g.8009543A>G | CA397950508 | GUCY2D | c.1706A>G (p.Gln569Arg)
| |
17 | g.8009543A>T | CA397950507 | GUCY2D | c.1706A>T (p.Gln569Leu)
| |
17 | g.8009544G>A | CA497750360 | GUCY2D | c.1707G>A (p.Gln569=)
| |
17 | g.8009544G>C | CA8365858 | GUCY2D | c.1707G>C (p.Gln569His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8009544G= | CA2246094087 | GUCY2D | c.1707G= (p.Gln569=)
| |
17 | g.8009544G>T | CA397950509 | GUCY2D | c.1707G>T (p.Gln569His)
| ClinVar dbSNP gnomAD v4 |
17 | g.8009545C>A | CA397950510 | GUCY2D | c.1708C>A (p.His570Asn)
| |
17 | g.8009545C= | CA2246094088 | GUCY2D | c.1708C= (p.His570=)
| |
17 | g.8009545C>G | CA397950511 | GUCY2D | c.1708C>G (p.His570Asp)
| |
17 | g.8009545C>T | CA287526879 | GUCY2D | c.1708C>T (p.His570Tyr)
| dbSNP gnomAD v4 |
17 | g.8009545_8009546insCAACAGATGCGGTTGTAGTTGCCAATCCAAACTCCTTGACAGATCCAGAACGCGCTAAGATTCTTGCGGCAGTGAAAGCAGCTAATCCTAAAGATACGAATCGTATTAAAGATGGAGATGAAGGCTATAA | CA2499578435 | GUCY2D | c.1708_1709insCAACAGATGCGGTTGTAGTTGCCAATCCAAACTCCTTGACAGATCCAGAACGCGCTAAGATTCTTGCGGCAGTGAAAGCAGCTAATCCTAAAGATACGAATCGTATTAAAGATGGAGATGAAGGCTATAA (p.His570ProfsTer64)
| |
17 | g.8009546A>C | CA397950512 | GUCY2D | c.1709A>C (p.His570Pro)
| |
17 | g.8009546A>G | CA397950513 | GUCY2D | c.1709A>G (p.His570Arg)
| gnomAD v4 |
17 | g.8009546A>T | CA397950514 | GUCY2D | c.1709A>T (p.His570Leu)
| |
17 | g.8009547C>A | CA397950515 | GUCY2D | c.1710C>A (p.His570Gln)
| |
17 | g.8009547C= | CA2246094089 | GUCY2D | c.1710C= (p.His570=)
| |
17 | g.8009547C>G | CA397950516 | GUCY2D | c.1710C>G (p.His570Gln)
| gnomAD v4 |
17 | g.8009547C>T | CA497750372 | GUCY2D | c.1710C>T (p.His570=)
| dbSNP gnomAD v4 |
17 | g.8009548A= | CA2246094090 | GUCY2D | c.1711A= (p.Ile571=)
| |
17 | g.8009548A>C | CA397950517 | GUCY2D | c.1711A>C (p.Ile571Leu)
| |
17 | g.8009548A>G | CA287526884 | GUCY2D | c.1711A>G (p.Ile571Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8009548A>T | CA397950518 | GUCY2D | c.1711A>T (p.Ile571Leu)
| |