17 | g.8012094_8012108del | CA981230194 | GUCY2D | c.1750-50_1750-36del (n.1750-50_1750-36del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012108T>A | CA8365879 | GUCY2D | c.1750-36T>A (n.1750-36T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012108T>C | CA2246113344 | GUCY2D | c.1750-36T>C (n.1750-36T>C)
| dbSNP gnomAD v4 |
17 | g.8012108T>G | CA2246113342 | GUCY2D | c.1750-36T>G (n.1750-36T>G)
| dbSNP |
17 | g.8012108T= | CA2246113341 | GUCY2D | c.1750-36T= (n.1750-36T=)
| |
17 | g.8012109G>A | CA775512651 | GUCY2D | c.1750-35G>A (n.1750-35G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012109G>C | CA2635949638 | GUCY2D | c.1750-35G>C (n.1750-35G>C)
| gnomAD v4 |
17 | g.8012109G= | CA2246113347 | GUCY2D | c.1750-35G= (n.1750-35G=)
| |
17 | g.8012111del | CA2635949636 | GUCY2D | c.1750-33del (n.1750-33del)
| gnomAD v4 |
17 | g.8012110G>A | CA2576160300 | GUCY2D | c.1750-34G>A (n.1750-34G>A)
| gnomAD v4 |
17 | g.8012111G>T | CA2576160301 | GUCY2D | c.1750-33G>T (n.1750-33G>T)
| |
17 | g.8012112C>A | CA2576160302 | GUCY2D | c.1750-32C>A (n.1750-32C>A)
| gnomAD v4 |
17 | g.8012115A>G | CA2635949646 | GUCY2D | c.1750-29A>G (n.1750-29A>G)
| gnomAD v4 |
17 | g.8012116A= | CA2246113349 | GUCY2D | c.1750-28A= (n.1750-28A=)
| |
17 | g.8012116A>G | CA981230214 | GUCY2D | c.1750-28A>G (n.1750-28A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012117A>T | CA2635949647 | GUCY2D | c.1750-27A>T (n.1750-27A>T)
| gnomAD v4 |
17 | g.8012119_8012120del | CA2576160303 | GUCY2D | c.1750-25_1750-24del (n.1750-25_1750-24del)
| gnomAD v4 |
17 | g.8012120G>A | CA2635949649 | GUCY2D | c.1750-24G>A (n.1750-24G>A)
| gnomAD v4 |
17 | g.8012121C>A | CA2635949650 | GUCY2D | c.1750-23C>A (n.1750-23C>A)
| gnomAD v4 |
17 | g.8012121C= | CA2246113353 | GUCY2D | c.1750-23C= (n.1750-23C=)
| |
17 | g.8012121C>G | CA8365880 | GUCY2D | c.1750-23C>G (n.1750-23C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012121C>T | CA2635949651 | GUCY2D | c.1750-23C>T (n.1750-23C>T)
| gnomAD v4 |
17 | g.8012122A= | CA2246113357 | GUCY2D | c.1750-22A= (n.1750-22A=)
| |
17 | g.8012122A>T | CA8365881 | GUCY2D | c.1750-22A>T (n.1750-22A>T)
| dbSNP ExAC |
17 | g.8012123A>C | CA2635949654 | GUCY2D | c.1750-21A>C (n.1750-21A>C)
| gnomAD v4 |
17 | g.8012124G>C | CA2635949656 | GUCY2D | c.1750-20G>C (n.1750-20G>C)
| gnomAD v4 |
17 | g.8012124G= | CA2246113360 | GUCY2D | c.1750-20G= (n.1750-20G=)
| |
17 | g.8012124G>T | CA8365882 | GUCY2D | c.1750-20G>T (n.1750-20G>T)
| dbSNP ExAC gnomAD v2 |
17 | g.8012126C>A | CA2635949658 | GUCY2D | c.1750-18C>A (n.1750-18C>A)
| gnomAD v4 |
17 | g.8012126C= | CA2246113365 | GUCY2D | c.1750-18C= (n.1750-18C=)
| |
17 | g.8012126C>T | CA624867853 | GUCY2D | c.1750-18C>T (n.1750-18C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012127A= | CA2246113366 | GUCY2D | c.1750-17A= (n.1750-17A=)
| |
17 | g.8012127A>G | CA8365883 | GUCY2D | c.1750-17A>G (n.1750-17A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012128A= | CA2246113373 | GUCY2D | c.1750-16A= (n.1750-16A=)
| |
17 | g.8012128A>C | CA2635949671 | GUCY2D | c.1750-16A>C (n.1750-16A>C)
| gnomAD v4 |
17 | g.8012128A>G | CA624867854 | GUCY2D | c.1750-16A>G (n.1750-16A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012128A>T | CA8365884 | GUCY2D | c.1750-16A>T (n.1750-16A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012129C>A | CA2635949678 | GUCY2D | c.1750-15C>A (n.1750-15C>A)
| gnomAD v4 |
17 | g.8012129C= | CA2246113380 | GUCY2D | c.1750-15C= (n.1750-15C=)
| |
17 | g.8012129C>T | CA8365885 | GUCY2D | c.1750-15C>T (n.1750-15C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012132_8012146del | CA2576160304 | GUCY2D | c.1750-12_1752del
| ClinVar |
17 | g.8012130T>C | CA2635949681 | GUCY2D | c.1750-14T>C (n.1750-14T>C)
| gnomAD v4 |
17 | g.8012130T>G | CA2246113391 | GUCY2D | c.1750-14T>G (n.1750-14T>G)
| dbSNP gnomAD v4 |
17 | g.8012130T= | CA2246113388 | GUCY2D | c.1750-14T= (n.1750-14T=)
| |
17 | g.8012131C>A | CA2635949683 | GUCY2D | c.1750-13C>A (n.1750-13C>A)
| gnomAD v4 |
17 | g.8012131C= | CA2246113394 | GUCY2D | c.1750-13C= (n.1750-13C=)
| |
17 | g.8012131C>G | CA2635949684 | GUCY2D | c.1750-13C>G (n.1750-13C>G)
| gnomAD v4 |
17 | g.8012132T>C | CA2635949687 | GUCY2D | c.1750-12T>C (n.1750-12T>C)
| gnomAD v4 |
17 | g.8012132dup | CA287530798 | GUCY2D | c.1750-12dup (n.1750-12dup)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012133C>A | CA2635949690 | GUCY2D | c.1750-11C>A (n.1750-11C>A)
| gnomAD v4 |
17 | g.8012133C>T | CA2635949691 | GUCY2D | c.1750-11C>T (n.1750-11C>T)
| gnomAD v4 |
17 | g.8012137del | CA2635949689 | GUCY2D | c.1750-7del (n.1750-7del)
| gnomAD v4 |
17 | g.8012135C>A | CA2635949692 | GUCY2D | c.1750-9C>A (n.1750-9C>A)
| gnomAD v4 |
17 | g.8012136C>A | CA2635949696 | GUCY2D | c.1750-8C>A (n.1750-8C>A)
| gnomAD v4 |
17 | g.8012136C= | CA2246113397 | GUCY2D | c.1750-8C= (n.1750-8C=)
| |
17 | g.8012136C>G | CA8365886 | GUCY2D | c.1750-8C>G (n.1750-8C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012136C>T | CA981230222 | GUCY2D | c.1750-8C>T (n.1750-8C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012137C>A | CA2635949700 | GUCY2D | c.1750-7C>A (n.1750-7C>A)
| dbSNP gnomAD v4 |
17 | g.8012137C= | CA2246113405 | GUCY2D | c.1750-7C= (n.1750-7C=)
| |
17 | g.8012137C>G | CA8365887 | GUCY2D | c.1750-7C>G (n.1750-7C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012137C>T | CA287530806 | GUCY2D | c.1750-7C>T (n.1750-7C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012137_8012138delinsCT | CA2246113403 | GUCY2D | c.1750-7_1750-6delinsCT (n.1750-7_1750-6delinsCT)
| |
17 | g.8012140_8012141del | CA2635949699 | GUCY2D | c.1750-4_1750-3del (n.1750-4_1750-3del)
| gnomAD v4 |
17 | g.8012138del | CA8365888 | GUCY2D | c.1750-6del (n.1750-6del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012138T>C | CA981230247 | GUCY2D | c.1750-6T>C (n.1750-6T>C)
| ClinVar dbSNP |
17 | g.8012138T= | CA2246113411 | GUCY2D | c.1750-6T= (n.1750-6T=)
| |
17 | g.8012139C>T | CA2573154506 | GUCY2D | c.1750-5C>T (n.1750-5C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.8012141C>A | CA2635949701 | GUCY2D | c.1750-3C>A (n.1750-3C>A)
| gnomAD v4 |
17 | g.8012141C= | CA2246113413 | GUCY2D | c.1750-3C= (n.1750-3C=)
| |
17 | g.8012141C>G | CA2246113414 | GUCY2D | c.1750-3C>G (n.1750-3C>G)
| dbSNP |
17 | g.8012141C>T | CA2635949702 | GUCY2D | c.1750-3C>T (n.1750-3C>T)
| gnomAD v4 |
17 | g.8012142A>C | CA397951119 | GUCY2D | c.1750-2A>C (n.1750-2A>C)
| |
17 | g.8012142A>G | CA397951121 | GUCY2D | c.1750-2A>G (n.1750-2A>G)
| |
17 | g.8012142A>T | CA397951123 | GUCY2D | c.1750-2A>T (n.1750-2A>T)
| |
17 | g.8012143G>A | CA397951125 | GUCY2D | c.1750-1G>A (n.1750-1G>A)
| |
17 | g.8012143G>C | CA397951127 | GUCY2D | c.1750-1G>C (n.1750-1G>C)
| |
17 | g.8012143G>T | CA397951129 | GUCY2D | c.1750-1G>T (n.1750-1G>T)
| |
17 | g.8012144C>A | CA397951132 | GUCY2D | c.1750C>A (p.Leu584Ile)
| gnomAD v4 |
17 | g.8012144C= | CA2246113417 | GUCY2D | c.1750C= (p.Leu584=)
| |
17 | g.8012144C>G | CA397951134 | GUCY2D | c.1750C>G (p.Leu584Val)
| ClinVar |
17 | g.8012144C>T | CA397951136 | GUCY2D | c.1750C>T (p.Leu584Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012145T>A | CA397951143 | GUCY2D | c.1751T>A (p.Leu584His)
| |
17 | g.8012145T>C | CA397951139 | GUCY2D | c.1751T>C (p.Leu584Pro)
| |
17 | g.8012145T>G | CA397951142 | GUCY2D | c.1751T>G (p.Leu584Arg)
| |
17 | g.8012146C>A | CA497952971 | GUCY2D | c.1752C>A (p.Leu584=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012146C= | CA2246113418 | GUCY2D | c.1752C= (p.Leu584=)
| |
17 | g.8012146C>G | CA497952972 | GUCY2D | c.1752C>G (p.Leu584=)
| |
17 | g.8012146C>T | CA8365889 | GUCY2D | c.1752C>T (p.Leu584=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012147del | CA2635949704 | GUCY2D | c.1753del (p.Gln585ArgfsTer?)
| gnomAD v4 |
17 | g.8012147C>A | CA397951148 | GUCY2D | c.1753C>A (p.Gln585Lys)
| |
17 | g.8012147C= | CA2246113424 | GUCY2D | c.1753C= (p.Gln585=)
| |
17 | g.8012147C>G | CA397951150 | GUCY2D | c.1753C>G (p.Gln585Glu)
| |
17 | g.8012147C>T | CA8365890 | GUCY2D | c.1753C>T (p.Gln585Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012148A>C | CA397951155 | GUCY2D | c.1754A>C (p.Gln585Pro)
| |
17 | g.8012148A>G | CA397951158 | GUCY2D | c.1754A>G (p.Gln585Arg)
| gnomAD v4 |
17 | g.8012148A>T | CA397951160 | GUCY2D | c.1754A>T (p.Gln585Leu)
| gnomAD v4 |
17 | g.8012149G>A | CA497952977 | GUCY2D | c.1755G>A (p.Gln585=)
| |
17 | g.8012149G>C | CA8365891 | GUCY2D | c.1755G>C (p.Gln585His)
| dbSNP ExAC gnomAD v2 |
17 | g.8012149G= | CA2246113429 | GUCY2D | c.1755G= (p.Gln585=)
| |
17 | g.8012149G>T | CA397951165 | GUCY2D | c.1755G>T (p.Gln585His)
| |
17 | g.8012150G>A | CA397951167 | GUCY2D | c.1756G>A (p.Glu586Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012150G>C | CA397951169 | GUCY2D | c.1756G>C (p.Glu586Gln)
| |
17 | g.8012150G= | CA2246113435 | GUCY2D | c.1756G= (p.Glu586=)
| |
17 | g.8012150G>T | CA397951170 | GUCY2D | c.1756G>T (p.Glu586Ter)
| |
17 | g.8012151A= | CA2246113485 | GUCY2D | c.1757A= (p.Glu586=)
| |
17 | g.8012151A>C | CA397951173 | GUCY2D | c.1757A>C (p.Glu586Ala)
| |
17 | g.8012151A>G | CA397951177 | GUCY2D | c.1757A>G (p.Glu586Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012151A>T | CA397951175 | GUCY2D | c.1757A>T (p.Glu586Val)
| |
17 | g.8012152G>A | CA497952981 | GUCY2D | c.1758G>A (p.Glu586=)
| |
17 | g.8012152G>C | CA397951179 | GUCY2D | c.1758G>C (p.Glu586Asp)
| |
17 | g.8012152G= | CA2246113490 | GUCY2D | c.1758G= (p.Glu586=)
| |
17 | g.8012152G>T | CA8365892 | GUCY2D | c.1758G>T (p.Glu586Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012153C>A | CA397951184 | GUCY2D | c.1759C>A (p.Leu587Ile)
| |
17 | g.8012153C= | CA2246113493 | GUCY2D | c.1759C= (p.Leu587=)
| |
17 | g.8012153C>G | CA8365893 | GUCY2D | c.1759C>G (p.Leu587Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012153C>T | CA397951185 | GUCY2D | c.1759C>T (p.Leu587Phe)
| ClinVar |
17 | g.8012154T>A | CA397951186 | GUCY2D | c.1760T>A (p.Leu587His)
| |
17 | g.8012154T>C | CA397951188 | GUCY2D | c.1760T>C (p.Leu587Pro)
| |
17 | g.8012154T>G | CA397951189 | GUCY2D | c.1760T>G (p.Leu587Arg)
| |
17 | g.8012155C>A | CA497952985 | GUCY2D | c.1761C>A (p.Leu587=)
| |
17 | g.8012155C>G | CA497952986 | GUCY2D | c.1761C>G (p.Leu587=)
| gnomAD v4 |
17 | g.8012155C>T | CA497952987 | GUCY2D | c.1761C>T (p.Leu587=)
| |
17 | g.8012156C>A | CA497952989 | GUCY2D | c.1762C>A (p.Arg588=)
| gnomAD v4 |
17 | g.8012156C= | CA2246113496 | GUCY2D | c.1762C= (p.Arg588=)
| |
17 | g.8012156C>G | CA397951191 | GUCY2D | c.1762C>G (p.Arg588Gly)
| |
17 | g.8012156C>T | CA287530833 | GUCY2D | c.1762C>T (p.Arg588Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012157G>A | CA397951195 | GUCY2D | c.1763G>A (p.Arg588Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012157G>C | CA397951196 | GUCY2D | c.1763G>C (p.Arg588Pro)
| |
17 | g.8012157G= | CA2246113501 | GUCY2D | c.1763G= (p.Arg588=)
| |
17 | g.8012157G>T | CA397951198 | GUCY2D | c.1763G>T (p.Arg588Leu)
| |
17 | g.8012158G>A | CA497952992 | GUCY2D | c.1764G>A (p.Arg588=)
| |
17 | g.8012158G>C | CA497952993 | GUCY2D | c.1764G>C (p.Arg588=)
| |
17 | g.8012158G>T | CA497952994 | GUCY2D | c.1764G>T (p.Arg588=)
| |
17 | g.8012159C>A | CA397951204 | GUCY2D | c.1765C>A (p.His589Asn)
| |
17 | g.8012159C>G | CA397951202 | GUCY2D | c.1765C>G (p.His589Asp)
| |
17 | g.8012159C>T | CA397951200 | GUCY2D | c.1765C>T (p.His589Tyr)
| |
17 | g.8012160A>C | CA397951206 | GUCY2D | c.1766A>C (p.His589Pro)
| |
17 | g.8012160A>G | CA397951207 | GUCY2D | c.1766A>G (p.His589Arg)
| ClinVar dbSNP |
17 | g.8012160A>T | CA397951209 | GUCY2D | c.1766A>T (p.His589Leu)
| gnomAD v4 |
17 | g.8012161T>A | CA397951211 | GUCY2D | c.1767T>A (p.His589Gln)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012161T>C | CA497952997 | GUCY2D | c.1767T>C (p.His589=)
| dbSNP |
17 | g.8012161T>G | CA397951213 | GUCY2D | c.1767T>G (p.His589Gln)
| gnomAD v4 |
17 | g.8012161T= | CA2246113507 | GUCY2D | c.1767T= (p.His589=)
| |
17 | g.8012162G>A | CA397951215 | GUCY2D | c.1768G>A (p.Glu590Lys)
| dbSNP gnomAD v2 |
17 | g.8012162G>C | CA397951217 | GUCY2D | c.1768G>C (p.Glu590Gln)
| |
17 | g.8012162G= | CA2246113514 | GUCY2D | c.1768G= (p.Glu590=)
| |
17 | g.8012162G>T | CA397951219 | GUCY2D | c.1768G>T (p.Glu590Ter)
| |
17 | g.8012163A>C | CA397951221 | GUCY2D | c.1769A>C (p.Glu590Ala)
| |
17 | g.8012163A>G | CA397951223 | GUCY2D | c.1769A>G (p.Glu590Gly)
| |
17 | g.8012163A>T | CA397951225 | GUCY2D | c.1769A>T (p.Glu590Val)
| |
17 | g.8012164G>A | CA497953002 | GUCY2D | c.1770G>A (p.Glu590=)
| dbSNP |
17 | g.8012164G>C | CA397951226 | GUCY2D | c.1770G>C (p.Glu590Asp)
| |
17 | g.8012164G= | CA2246113524 | GUCY2D | c.1770G= (p.Glu590=)
| |
17 | g.8012164G>T | CA397951227 | GUCY2D | c.1770G>T (p.Glu590Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012165A= | CA2246113537 | GUCY2D | c.1771A= (p.Asn591=)
| |
17 | g.8012165A>C | CA397951232 | GUCY2D | c.1771A>C (p.Asn591His)
| |
17 | g.8012165A>G | CA397951230 | GUCY2D | c.1771A>G (p.Asn591Asp)
| ClinVar dbSNP |
17 | g.8012165A>T | CA397951229 | GUCY2D | c.1771A>T (p.Asn591Tyr)
| |
17 | g.8012166A>C | CA397951237 | GUCY2D | c.1772A>C (p.Asn591Thr)
| |
17 | g.8012166A>G | CA397951235 | GUCY2D | c.1772A>G (p.Asn591Ser)
| |
17 | g.8012166A>T | CA397951236 | GUCY2D | c.1772A>T (p.Asn591Ile)
| |
17 | g.8012166_8012167delinsAC | CA2246113547 | GUCY2D | c.1772_1773delinsAC (p.Asn591=)
| |
17 | g.8012167del | CA251244 | GUCY2D | c.1773del (p.Asn591LysfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012167C>A | CA397951240 | GUCY2D | c.1773C>A (p.Asn591Lys)
| |
17 | g.8012167C= | CA2246113555 | GUCY2D | c.1773C= (p.Asn591=)
| |
17 | g.8012167C>G | CA397951241 | GUCY2D | c.1773C>G (p.Asn591Lys)
| |
17 | g.8012167C>T | CA8365894 | GUCY2D | c.1773C>T (p.Asn591=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012168G>A | CA397951245 | GUCY2D | c.1774G>A (p.Val592Met)
| ClinVar dbSNP gnomAD v4 |
17 | g.8012168G>C | CA397951248 | GUCY2D | c.1774G>C (p.Val592Leu)
| |
17 | g.8012168G= | CA2246113561 | GUCY2D | c.1774G= (p.Val592=)
| |
17 | g.8012168G>T | CA8365895 | GUCY2D | c.1774G>T (p.Val592Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012169T>A | CA397951252 | GUCY2D | c.1775T>A (p.Val592Glu)
| |
17 | g.8012169T>C | CA397951254 | GUCY2D | c.1775T>C (p.Val592Ala)
| |
17 | g.8012169T>G | CA397951255 | GUCY2D | c.1775T>G (p.Val592Gly)
| |
17 | g.8012170G>A | CA497953012 | GUCY2D | c.1776G>A (p.Val592=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012170G>C | CA8365896 | GUCY2D | c.1776G>C (p.Val592=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012170G= | CA2246113566 | GUCY2D | c.1776G= (p.Val592=)
| |
17 | g.8012170G>T | CA497953013 | GUCY2D | c.1776G>T (p.Val592=)
| |
17 | g.8012171G>A | CA397951261 | GUCY2D | c.1777G>A (p.Ala593Thr)
| |
17 | g.8012171G>C | CA397951258 | GUCY2D | c.1777G>C (p.Ala593Pro)
| |
17 | g.8012171G= | CA2246113574 | GUCY2D | c.1777G= (p.Ala593=)
| |
17 | g.8012171G>T | CA8365897 | GUCY2D | c.1777G>T (p.Ala593Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012172C>A | CA397951262 | GUCY2D | c.1778C>A (p.Ala593Asp)
| |
17 | g.8012172C= | CA2246113584 | GUCY2D | c.1778C= (p.Ala593=)
| |
17 | g.8012172C>G | CA397951264 | GUCY2D | c.1778C>G (p.Ala593Gly)
| |
17 | g.8012172C>T | CA397951266 | GUCY2D | c.1778C>T (p.Ala593Val)
| dbSNP gnomAD v4 |
17 | g.8012173C>A | CA497953019 | GUCY2D | c.1779C>A (p.Ala593=)
| |
17 | g.8012173C= | CA2246113585 | GUCY2D | c.1779C= (p.Ala593=)
| |
17 | g.8012173C>G | CA497953020 | GUCY2D | c.1779C>G (p.Ala593=)
| dbSNP |
17 | g.8012173C>T | CA497953022 | GUCY2D | c.1779C>T (p.Ala593=)
| ClinVar dbSNP |
17 | g.8012174C>A | CA397951268 | GUCY2D | c.1780C>A (p.Leu594Ile)
| |
17 | g.8012174C>G | CA397951270 | GUCY2D | c.1780C>G (p.Leu594Val)
| |
17 | g.8012174C>T | CA397951272 | GUCY2D | c.1780C>T (p.Leu594Phe)
| ClinVar gnomAD v4 |
17 | g.8012174_8012177del | CA2635949707 | GUCY2D | c.1780_1783del (p.Leu594ThrfsTer?)
| ClinVar gnomAD v4 |
17 | g.8012175T>A | CA397951274 | GUCY2D | c.1781T>A (p.Leu594His)
| ClinVar |
17 | g.8012175T>C | CA397951276 | GUCY2D | c.1781T>C (p.Leu594Pro)
| gnomAD v4 |
17 | g.8012175T>G | CA397951278 | GUCY2D | c.1781T>G (p.Leu594Arg)
| |
17 | g.8012176C>A | CA497953028 | GUCY2D | c.1782C>A (p.Leu594=)
| |
17 | g.8012176C>G | CA497953030 | GUCY2D | c.1782C>G (p.Leu594=)
| gnomAD v4 |
17 | g.8012176C>T | CA497953027 | GUCY2D | c.1782C>T (p.Leu594=)
| |
17 | g.8012178_8012181del | CA2740095238 | GUCY2D | c.1784_1787del (p.Tyr595TrpfsTer?)
| ClinVar |
17 | g.8012177T>A | CA397951280 | GUCY2D | c.1783T>A (p.Tyr595Asn)
| |
17 | g.8012177T>C | CA397951282 | GUCY2D | c.1783T>C (p.Tyr595His)
| gnomAD v4 |
17 | g.8012177T>G | CA397951284 | GUCY2D | c.1783T>G (p.Tyr595Asp)
| |
17 | g.8012178A>C | CA397951288 | GUCY2D | c.1784A>C (p.Tyr595Ser)
| |
17 | g.8012178A>G | CA397951290 | GUCY2D | c.1784A>G (p.Tyr595Cys)
| |
17 | g.8012178A>T | CA397951286 | GUCY2D | c.1784A>T (p.Tyr595Phe)
| |
17 | g.8012179C>A | CA397951292 | GUCY2D | c.1785C>A (p.Tyr595Ter)
| gnomAD v4 |
17 | g.8012179C= | CA2246113587 | GUCY2D | c.1785C= (p.Tyr595=)
| |
17 | g.8012179C>G | CA397951294 | GUCY2D | c.1785C>G (p.Tyr595Ter)
| |
17 | g.8012179C>T | CA287530839 | GUCY2D | c.1785C>T (p.Tyr595=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012180C>A | CA397951296 | GUCY2D | c.1786C>A (p.Leu596Met)
| |
17 | g.8012180C= | CA2246113592 | GUCY2D | c.1786C= (p.Leu596=)
| |
17 | g.8012180C>G | CA397951297 | GUCY2D | c.1786C>G (p.Leu596Val)
| dbSNP |
17 | g.8012180C>T | CA497953037 | GUCY2D | c.1786C>T (p.Leu596=)
| |
17 | g.8012181T>A | CA8365898 | GUCY2D | c.1787T>A (p.Leu596Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012181T>C | CA8365899 | GUCY2D | c.1787T>C (p.Leu596Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012181T>G | CA397951300 | GUCY2D | c.1787T>G (p.Leu596Arg)
| |
17 | g.8012181T= | CA2246113597 | GUCY2D | c.1787T= (p.Leu596=)
| |
17 | g.8012182G>A | CA497953041 | GUCY2D | c.1788G>A (p.Leu596=)
| |
17 | g.8012182G>C | CA497953042 | GUCY2D | c.1788G>C (p.Leu596=)
| |
17 | g.8012182G>T | CA497953044 | GUCY2D | c.1788G>T (p.Leu596=)
| |
17 | g.8012183G>A | CA397951303 | GUCY2D | c.1789G>A (p.Gly597Arg)
| COSMIC |
17 | g.8012183G>C | CA397951305 | GUCY2D | c.1789G>C (p.Gly597Arg)
| gnomAD v4 |
17 | g.8012183G>T | CA397951306 | GUCY2D | c.1789G>T (p.Gly597Trp)
| |
17 | g.8012184G>A | CA287530846 | GUCY2D | c.1790G>A (p.Gly597Glu)
| dbSNP |
17 | g.8012184G>C | CA397951309 | GUCY2D | c.1790G>C (p.Gly597Ala)
| |
17 | g.8012184G= | CA2246113602 | GUCY2D | c.1790G= (p.Gly597=)
| |
17 | g.8012184G>T | CA397951310 | GUCY2D | c.1790G>T (p.Gly597Val)
| |
17 | g.8012185G>A | CA8365900 | GUCY2D | c.1791G>A (p.Gly597=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012185G>C | CA497953049 | GUCY2D | c.1791G>C (p.Gly597=)
| |
17 | g.8012185G= | CA2246113610 | GUCY2D | c.1791G= (p.Gly597=)
| |
17 | g.8012185G>T | CA497953050 | GUCY2D | c.1791G>T (p.Gly597=)
| COSMIC |
17 | g.8012186C>A | CA397951318 | GUCY2D | c.1792C>A (p.Leu598Ile)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012186C= | CA2246113613 | GUCY2D | c.1792C= (p.Leu598=)
| |
17 | g.8012186C>G | CA397951314 | GUCY2D | c.1792C>G (p.Leu598Val)
| |
17 | g.8012186C>T | CA397951316 | GUCY2D | c.1792C>T (p.Leu598Phe)
| gnomAD v4 |
17 | g.8012187T>A | CA397951320 | GUCY2D | c.1793T>A (p.Leu598His)
| |
17 | g.8012187T>C | CA397951322 | GUCY2D | c.1793T>C (p.Leu598Pro)
| |
17 | g.8012187T>G | CA397951324 | GUCY2D | c.1793T>G (p.Leu598Arg)
| |
17 | g.8012190dup | CA2841031911 | GUCY2D | c.1796dup (p.Leu600ProfsTer?)
| |
17 | g.8012188T>A | CA497953060 | GUCY2D | c.1794T>A (p.Leu598=)
| |
17 | g.8012188T>C | CA497953061 | GUCY2D | c.1794T>C (p.Leu598=)
| |
17 | g.8012188T>G | CA497953062 | GUCY2D | c.1794T>G (p.Leu598=)
| |
17 | g.8012189T>A | CA397951326 | GUCY2D | c.1795T>A (p.Phe599Ile)
| |
17 | g.8012189T>C | CA397951327 | GUCY2D | c.1795T>C (p.Phe599Leu)
| |
17 | g.8012189T>G | CA397951329 | GUCY2D | c.1795T>G (p.Phe599Val)
| |
17 | g.8012190T>A | CA397951331 | GUCY2D | c.1796T>A (p.Phe599Tyr)
| |
17 | g.8012190T>C | CA397951332 | GUCY2D | c.1796T>C (p.Phe599Ser)
| |
17 | g.8012190T>G | CA397951334 | GUCY2D | c.1796T>G (p.Phe599Cys)
| |
17 | g.8012191C>A | CA397951336 | GUCY2D | c.1797C>A (p.Phe599Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012191C= | CA2246113619 | GUCY2D | c.1797C= (p.Phe599=)
| |
17 | g.8012191C>G | CA397951338 | GUCY2D | c.1797C>G (p.Phe599Leu)
| |
17 | g.8012191C>T | CA497953067 | GUCY2D | c.1797C>T (p.Phe599=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012192C>A | CA8365901 | GUCY2D | c.1798C>A (p.Leu600Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012192C= | CA2246113622 | GUCY2D | c.1798C= (p.Leu600=)
| |
17 | g.8012192C>G | CA397951339 | GUCY2D | c.1798C>G (p.Leu600Val)
| |
17 | g.8012192C>T | CA497953070 | GUCY2D | c.1798C>T (p.Leu600=)
| |
17 | g.8012193T>A | CA397951342 | GUCY2D | c.1799T>A (p.Leu600Gln)
| |
17 | g.8012193T>C | CA397951343 | GUCY2D | c.1799T>C (p.Leu600Pro)
| |
17 | g.8012193T>G | CA397951344 | GUCY2D | c.1799T>G (p.Leu600Arg)
| |
17 | g.8012194G>A | CA497953075 | GUCY2D | c.1800G>A (p.Leu600=)
| |
17 | g.8012194G>C | CA497953076 | GUCY2D | c.1800G>C (p.Leu600=)
| |
17 | g.8012194G>T | CA497953078 | GUCY2D | c.1800G>T (p.Leu600=)
| |
17 | g.8012195G>A | CA397951345 | GUCY2D | c.1801G>A (p.Ala601Thr)
| |
17 | g.8012195G>C | CA397951346 | GUCY2D | c.1801G>C (p.Ala601Pro)
| |
17 | g.8012195G>T | CA397951347 | GUCY2D | c.1801G>T (p.Ala601Ser)
| |
17 | g.8012196C>A | CA397951349 | GUCY2D | c.1802C>A (p.Ala601Asp)
| |
17 | g.8012196C= | CA2246113624 | GUCY2D | c.1802C= (p.Ala601=)
| |
17 | g.8012196C>G | CA397951351 | GUCY2D | c.1802C>G (p.Ala601Gly)
| |
17 | g.8012196C>T | CA8365902 | GUCY2D | c.1802C>T (p.Ala601Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.8012197T>A | CA497953086 | GUCY2D | c.1803T>A (p.Ala601=)
| |
17 | g.8012197T>C | CA497953089 | GUCY2D | c.1803T>C (p.Ala601=)
| |
17 | g.8012197T>G | CA497953087 | GUCY2D | c.1803T>G (p.Ala601=)
| |
17 | g.8012198C>A | CA497953090 | GUCY2D | c.1804C>A (p.Arg602=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012198C= | CA2246113633 | GUCY2D | c.1804C= (p.Arg602=)
| |
17 | g.8012198C>G | CA8365904 | GUCY2D | c.1804C>G (p.Arg602Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012198C>T | CA8365903 | GUCY2D | c.1804C>T (p.Arg602Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8012198_8012199delinsCG | CA2246113640 | GUCY2D | c.1804_1805delinsCG (p.Arg602=)
| |
17 | g.8012199G>A | CA8365905 | GUCY2D | c.1805G>A (p.Arg602Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8012199G>C | CA397951357 | GUCY2D | c.1805G>C (p.Arg602Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012199G= | CA2246113651 | GUCY2D | c.1805G= (p.Arg602=)
| |
17 | g.8012199G>T | CA397951359 | GUCY2D | c.1805G>T (p.Arg602Leu)
| |
17 | g.8012202del | CA624867855 | GUCY2D | c.1808del (p.Gly603GlufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012199_8012223del | CA2695224518 | GUCY2D | c.1805_1829del (p.Arg602ProfsTer27)
| |
17 | g.8012199_8012224delinsGGGGAGCAGAAGGCCCTGCGGCCCTC | CA2246113647 | GUCY2D | c.1805_1830delinsGGGGAGCAGAAGGCCCTGCGGCCCTC (p.Arg602=)
| |
17 | g.8012200G>A | CA497953097 | GUCY2D | c.1806G>A (p.Arg602=)
| dbSNP |
17 | g.8012200G>C | CA497953098 | GUCY2D | c.1806G>C (p.Arg602=)
| |
17 | g.8012200G= | CA2246113660 | GUCY2D | c.1806G= (p.Arg602=)
| |
17 | g.8012200G>T | CA497953099 | GUCY2D | c.1806G>T (p.Arg602=)
| |
17 | g.8012200_8012224del | CA226056 | GUCY2D | c.1806_1830del (p.Ala604ArgfsTer25)
| ClinVar dbSNP |
17 | g.8012201G>A | CA397951361 | GUCY2D | c.1807G>A (p.Gly603Arg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012201G>C | CA397951363 | GUCY2D | c.1807G>C (p.Gly603Arg)
| |
17 | g.8012201G= | CA2246113663 | GUCY2D | c.1807G= (p.Gly603=)
| |
17 | g.8012201G>T | CA397951364 | GUCY2D | c.1807G>T (p.Gly603Ter)
| |
17 | g.8012202G>A | CA287530875 | GUCY2D | c.1808G>A (p.Gly603Glu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8012202G>C | CA8365906 | GUCY2D | c.1808G>C (p.Gly603Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012202G= | CA2246113674 | GUCY2D | c.1808G= (p.Gly603=)
| |
17 | g.8012202G>T | CA397951367 | GUCY2D | c.1808G>T (p.Gly603Val)
| gnomAD v4 |
17 | g.8012202_8012203delinsGA | CA2246113672 | GUCY2D | c.1808_1809delinsGA (p.Gly603=)
| |
17 | g.8012203del | CA8365907 | GUCY2D | c.1809del (p.Ala604GlnfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8012203A>C | CA497953101 | GUCY2D | c.1809A>C (p.Gly603=)
| |
17 | g.8012203A>G | CA497953102 | GUCY2D | c.1809A>G (p.Gly603=)
| |
17 | g.8012203A>T | CA497953103 | GUCY2D | c.1809A>T (p.Gly603=)
| |
17 | g.8012204G>A | CA397951369 | GUCY2D | c.1810G>A (p.Ala604Thr)
| |
17 | g.8012204G>C | CA397951371 | GUCY2D | c.1810G>C (p.Ala604Pro)
| |
17 | g.8012204G>T | CA397951373 | GUCY2D | c.1810G>T (p.Ala604Ser)
| |
17 | g.8012205C>A | CA397951375 | GUCY2D | c.1811C>A (p.Ala604Glu)
| |
17 | g.8012205C= | CA2246113685 | GUCY2D | c.1811C= (p.Ala604=)
| |
17 | g.8012205C>G | CA397951377 | GUCY2D | c.1811C>G (p.Ala604Gly)
| |
17 | g.8012205C>T | CA397951379 | GUCY2D | c.1811C>T (p.Ala604Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8012206A>C | CA497953109 | GUCY2D | c.1812A>C (p.Ala604=)
| |
17 | g.8012206A>G | CA497953107 | GUCY2D | c.1812A>G (p.Ala604=)
| |
17 | g.8012206A>T | CA497953106 | GUCY2D | c.1812A>T (p.Ala604=)
| |
17 | g.8012207G>A | CA397951383 | GUCY2D | c.1813G>A (p.Glu605Lys)
| |
17 | g.8012207G>C | CA397951385 | GUCY2D | c.1813G>C (p.Glu605Gln)
| |
17 | g.8012207G>T | CA397951381 | GUCY2D | c.1813G>T (p.Glu605Ter)
| |
17 | g.8012208A>C | CA397951389 | GUCY2D | c.1814A>C (p.Glu605Ala)
| |
17 | g.8012208A>G | CA397951387 | GUCY2D | c.1814A>G (p.Glu605Gly)
| |
17 | g.8012208A>T | CA397951391 | GUCY2D | c.1814A>T (p.Glu605Val)
| |