17 | g.8003543_8003554dup | CA624867832 | GUCY2D | c.496_507dup (p.Ala169_Asp170insThrProAlaAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003543_8003544delinsAC | CA2246053483 | GUCY2D | c.496_497delinsAC (p.Thr166=)
| |
17 | g.8003544C>A | CA397943916 | GUCY2D | c.497C>A (p.Thr166Asn)
| gnomAD v4 |
17 | g.8003544C= | CA2246053486 | GUCY2D | c.497C= (p.Thr166=)
| |
17 | g.8003544C>G | CA397943912 | GUCY2D | c.497C>G (p.Thr166Ser)
| |
17 | g.8003544C>T | CA397943914 | GUCY2D | c.497C>T (p.Thr166Ile)
| dbSNP |
17 | g.8003548dup | CA2635950129 | GUCY2D | c.501dup (p.Ala168ArgfsTer?)
| gnomAD v4 |
17 | g.8003548del | CA1139664109 | GUCY2D | c.501del (p.Ala168ProfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003545C>A | CA497952866 | GUCY2D | c.498C>A (p.Thr166=)
| gnomAD v4 |
17 | g.8003545C>G | CA497952867 | GUCY2D | c.498C>G (p.Thr166=)
| gnomAD v4 |
17 | g.8003545C>T | CA497952868 | GUCY2D | c.498C>T (p.Thr166=)
| gnomAD v4 |
17 | g.8003546C>A | CA397943919 | GUCY2D | c.499C>A (p.Pro167Thr)
| gnomAD v4 |
17 | g.8003546C= | CA2246053488 | GUCY2D | c.499C= (p.Pro167=)
| |
17 | g.8003546C>G | CA397943921 | GUCY2D | c.499C>G (p.Pro167Ala)
| |
17 | g.8003546C>T | CA287523289 | GUCY2D | c.499C>T (p.Pro167Ser)
| dbSNP gnomAD v2 |
17 | g.8003547C>A | CA397943926 | GUCY2D | c.500C>A (p.Pro167His)
| gnomAD v4 |
17 | g.8003547C>G | CA397943928 | GUCY2D | c.500C>G (p.Pro167Arg)
| |
17 | g.8003547C>T | CA397943930 | GUCY2D | c.500C>T (p.Pro167Leu)
| gnomAD v4 |
17 | g.8003548C>A | CA497952872 | GUCY2D | c.501C>A (p.Pro167=)
| gnomAD v4 |
17 | g.8003548C= | CA2246053490 | GUCY2D | c.501C= (p.Pro167=)
| |
17 | g.8003548C>G | CA497952874 | GUCY2D | c.501C>G (p.Pro167=)
| |
17 | g.8003548C>T | CA497952873 | GUCY2D | c.501C>T (p.Pro167=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003549G>A | CA8365501 | GUCY2D | c.502G>A (p.Ala168Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003549G>C | CA397943935 | GUCY2D | c.502G>C (p.Ala168Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003549G= | CA2246053492 | GUCY2D | c.502G= (p.Ala168=)
| |
17 | g.8003549G>T | CA397943937 | GUCY2D | c.502G>T (p.Ala168Ser)
| gnomAD v4 |
17 | g.8003550C>A | CA397943940 | GUCY2D | c.503C>A (p.Ala168Asp)
| gnomAD v4 |
17 | g.8003550C>G | CA397943942 | GUCY2D | c.503C>G (p.Ala168Gly)
| |
17 | g.8003550C>T | CA397943943 | GUCY2D | c.503C>T (p.Ala168Val)
| gnomAD v4 |
17 | g.8003551C>A | CA497952875 | GUCY2D | c.504C>A (p.Ala168=)
| dbSNP gnomAD v4 |
17 | g.8003551C= | CA2246053494 | GUCY2D | c.504C= (p.Ala168=)
| |
17 | g.8003551C>G | CA497952876 | GUCY2D | c.504C>G (p.Ala168=)
| |
17 | g.8003551C>T | CA497952877 | GUCY2D | c.504C>T (p.Ala168=)
| gnomAD v4 |
17 | g.8003555_8003579dup | CA2635950159 | GUCY2D | c.508_532dup (p.Ala178GlyfsTer?)
| gnomAD v4 |
17 | g.8003552G>A | CA397943950 | GUCY2D | c.505G>A (p.Ala169Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003552G>C | CA397943946 | GUCY2D | c.505G>C (p.Ala169Pro)
| |
17 | g.8003552G= | CA2246053496 | GUCY2D | c.505G= (p.Ala169=)
| |
17 | g.8003552G>T | CA397943948 | GUCY2D | c.505G>T (p.Ala169Ser)
| dbSNP gnomAD v4 |
17 | g.8003553C>A | CA397943953 | GUCY2D | c.506C>A (p.Ala169Glu)
| gnomAD v4 |
17 | g.8003553C= | CA2246053499 | GUCY2D | c.506C= (p.Ala169=)
| |
17 | g.8003553C>G | CA397943955 | GUCY2D | c.506C>G (p.Ala169Gly)
| |
17 | g.8003553C>T | CA397943957 | GUCY2D | c.506C>T (p.Ala169Val)
| dbSNP gnomAD v4 |
17 | g.8003554G>A | CA497952880 | GUCY2D | c.507G>A (p.Ala169=)
| gnomAD v4 |
17 | g.8003554G>C | CA497952881 | GUCY2D | c.507G>C (p.Ala169=)
| |
17 | g.8003554G= | CA2246053500 | GUCY2D | c.507G= (p.Ala169=)
| |
17 | g.8003554G>T | CA8365502 | GUCY2D | c.507G>T (p.Ala169=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003555G>A | CA397943961 | GUCY2D | c.508G>A (p.Asp170Asn)
| gnomAD v3 gnomAD v4 |
17 | g.8003555G>C | CA397943963 | GUCY2D | c.508G>C (p.Asp170His)
| |
17 | g.8003555G= | CA2246053502 | GUCY2D | c.508G= (p.Asp170=)
| |
17 | g.8003555G>T | CA397943966 | GUCY2D | c.508G>T (p.Asp170Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003556A>C | CA397943969 | GUCY2D | c.509A>C (p.Asp170Ala)
| ClinVar |
17 | g.8003556A>G | CA397943967 | GUCY2D | c.509A>G (p.Asp170Gly)
| gnomAD v4 |
17 | g.8003556A>T | CA397943968 | GUCY2D | c.509A>T (p.Asp170Val)
| ClinVar gnomAD v4 |
17 | g.8003557T>A | CA397943970 | GUCY2D | c.510T>A (p.Asp170Glu)
| |
17 | g.8003557T>C | CA8365503 | GUCY2D | c.510T>C (p.Asp170=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003557T>G | CA397943971 | GUCY2D | c.510T>G (p.Asp170Glu)
| gnomAD v4 |
17 | g.8003557T= | CA2246053504 | GUCY2D | c.510T= (p.Asp170=)
| |
17 | g.8003558G>A | CA397943972 | GUCY2D | c.511G>A (p.Ala171Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003558G>C | CA397943973 | GUCY2D | c.511G>C (p.Ala171Pro)
| |
17 | g.8003558G= | CA2246053506 | GUCY2D | c.511G= (p.Ala171=)
| |
17 | g.8003558G>T | CA397943974 | GUCY2D | c.511G>T (p.Ala171Ser)
| gnomAD v4 |
17 | g.8003559C>A | CA397943975 | GUCY2D | c.512C>A (p.Ala171Asp)
| gnomAD v4 |
17 | g.8003559C>G | CA397943977 | GUCY2D | c.512C>G (p.Ala171Gly)
| |
17 | g.8003559C>T | CA397943976 | GUCY2D | c.512C>T (p.Ala171Val)
| gnomAD v4 |
17 | g.8003560C>A | CA497952883 | GUCY2D | c.513C>A (p.Ala171=)
| |
17 | g.8003560C= | CA2246053508 | GUCY2D | c.513C= (p.Ala171=)
| |
17 | g.8003560C>G | CA497952884 | GUCY2D | c.513C>G (p.Ala171=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003560C>T | CA497952885 | GUCY2D | c.513C>T (p.Ala171=)
| |
17 | g.8003561C>A | CA397943978 | GUCY2D | c.514C>A (p.Leu172Ile)
| gnomAD v4 |
17 | g.8003561C>G | CA397943979 | GUCY2D | c.514C>G (p.Leu172Val)
| |
17 | g.8003561C>T | CA397943980 | GUCY2D | c.514C>T (p.Leu172Phe)
| ClinVar gnomAD v4 |
17 | g.8003562T>A | CA397943981 | GUCY2D | c.515T>A (p.Leu172His)
| |
17 | g.8003562T>C | CA397943982 | GUCY2D | c.515T>C (p.Leu172Pro)
| |
17 | g.8003562T>G | CA397943983 | GUCY2D | c.515T>G (p.Leu172Arg)
| |
17 | g.8003563C>A | CA497952890 | GUCY2D | c.516C>A (p.Leu172=)
| gnomAD v4 |
17 | g.8003563C= | CA2246053510 | GUCY2D | c.516C= (p.Leu172=)
| |
17 | g.8003563C>G | CA497952888 | GUCY2D | c.516C>G (p.Leu172=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003563C>T | CA497952889 | GUCY2D | c.516C>T (p.Leu172=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003564T>A | CA397943984 | GUCY2D | c.517T>A (p.Tyr173Asn)
| |
17 | g.8003564T>C | CA397943985 | GUCY2D | c.517T>C (p.Tyr173His)
| |
17 | g.8003564T>G | CA397943986 | GUCY2D | c.517T>G (p.Tyr173Asp)
| |
17 | g.8003565A>C | CA397943987 | GUCY2D | c.518A>C (p.Tyr173Ser)
| |
17 | g.8003565A>G | CA397943988 | GUCY2D | c.518A>G (p.Tyr173Cys)
| |
17 | g.8003565A>T | CA397943989 | GUCY2D | c.518A>T (p.Tyr173Phe)
| |
17 | g.8003565_8003570dup | CA2695224289 | GUCY2D | c.518_523dup (p.Ala174_Leu175insHisAla)
| |
17 | g.8003566del | CA2635950227 | GUCY2D | c.519del (p.Tyr173Ter)
| gnomAD v4 |
17 | g.8003566C>A | CA397943990 | GUCY2D | c.519C>A (p.Tyr173Ter)
| gnomAD v4 |
17 | g.8003566C= | CA2246053512 | GUCY2D | c.519C= (p.Tyr173=)
| |
17 | g.8003566C>G | CA397943991 | GUCY2D | c.519C>G (p.Tyr173Ter)
| |
17 | g.8003566C>T | CA241300 | GUCY2D | c.519C>T (p.Tyr173=)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003567_8003569del | CA2635950224 | GUCY2D | c.520_522del (p.Ala174del)
| gnomAD v4 |
17 | g.8003567G>A | CA287523303 | GUCY2D | c.520G>A (p.Ala174Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003567G>C | CA397943992 | GUCY2D | c.520G>C (p.Ala174Pro)
| |
17 | g.8003567G= | CA2246053515 | GUCY2D | c.520G= (p.Ala174=)
| |
17 | g.8003567G>T | CA397943993 | GUCY2D | c.520G>T (p.Ala174Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003568C>A | CA397943994 | GUCY2D | c.521C>A (p.Ala174Asp)
| ClinVar gnomAD v4 |
17 | g.8003568C>G | CA397943995 | GUCY2D | c.521C>G (p.Ala174Gly)
| |
17 | g.8003568C>T | CA397943996 | GUCY2D | c.521C>T (p.Ala174Val)
| gnomAD v4 |
17 | g.8003569C>A | CA497952894 | GUCY2D | c.522C>A (p.Ala174=)
| gnomAD v4 |
17 | g.8003569C>G | CA497952895 | GUCY2D | c.522C>G (p.Ala174=)
| |
17 | g.8003569C>T | CA497952896 | GUCY2D | c.522C>T (p.Ala174=)
| |
17 | g.8003570C>A | CA397943999 | GUCY2D | c.523C>A (p.Leu175Met)
| gnomAD v4 COSMIC |
17 | g.8003570C= | CA2246053518 | GUCY2D | c.523C= (p.Leu175=)
| |
17 | g.8003570C>G | CA397944001 | GUCY2D | c.523C>G (p.Leu175Val)
| |
17 | g.8003570C>T | CA497952898 | GUCY2D | c.523C>T (p.Leu175=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003571T>A | CA397944004 | GUCY2D | c.524T>A (p.Leu175Gln)
| |
17 | g.8003571T>C | CA397944006 | GUCY2D | c.524T>C (p.Leu175Pro)
| gnomAD v4 |
17 | g.8003571T>G | CA287523310 | GUCY2D | c.524T>G (p.Leu175Arg)
| dbSNP |
17 | g.8003571T= | CA2246053520 | GUCY2D | c.524T= (p.Leu175=)
| |
17 | g.8003572G>A | CA8365504 | GUCY2D | c.525G>A (p.Leu175=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003572G>C | CA497952901 | GUCY2D | c.525G>C (p.Leu175=)
| |
17 | g.8003572G= | CA2246053523 | GUCY2D | c.525G= (p.Leu175=)
| |
17 | g.8003572G>T | CA497952902 | GUCY2D | c.525G>T (p.Leu175=)
| gnomAD v4 |
17 | g.8003573C>A | CA397944015 | GUCY2D | c.526C>A (p.Leu176Ile)
| gnomAD v4 |
17 | g.8003573C= | CA2246053526 | GUCY2D | c.526C= (p.Leu176=)
| |
17 | g.8003573C>G | CA397944013 | GUCY2D | c.526C>G (p.Leu176Val)
| |
17 | g.8003573C>T | CA397944012 | GUCY2D | c.526C>T (p.Leu176Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003574T>A | CA397944018 | GUCY2D | c.527T>A (p.Leu176His)
| |
17 | g.8003574T>C | CA235955 | GUCY2D | c.527T>C (p.Leu176Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003574T>G | CA397944021 | GUCY2D | c.527T>G (p.Leu176Arg)
| |
17 | g.8003574T= | CA2246053528 | GUCY2D | c.527T= (p.Leu176=)
| |
17 | g.8003575T>A | CA497952904 | GUCY2D | c.528T>A (p.Leu176=)
| |
17 | g.8003575T>C | CA497952906 | GUCY2D | c.528T>C (p.Leu176=)
| |
17 | g.8003575T>G | CA497952907 | GUCY2D | c.528T>G (p.Leu176=)
| |
17 | g.8003576C>A | CA8365505 | GUCY2D | c.529C>A (p.Arg177Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003576C= | CA2246053530 | GUCY2D | c.529C= (p.Arg177=)
| |
17 | g.8003576C>G | CA397944025 | GUCY2D | c.529C>G (p.Arg177Gly)
| |
17 | g.8003576C>T | CA397944027 | GUCY2D | c.529C>T (p.Arg177Cys)
| |
17 | g.8003577G>A | CA397944031 | GUCY2D | c.530G>A (p.Arg177His)
| gnomAD v4 |
17 | g.8003577G>C | CA397944033 | GUCY2D | c.530G>C (p.Arg177Pro)
| |
17 | g.8003577G>T | CA397944035 | GUCY2D | c.530G>T (p.Arg177Leu)
| gnomAD v4 |
17 | g.8003578C>A | CA497952909 | GUCY2D | c.531C>A (p.Arg177=)
| gnomAD v4 |
17 | g.8003578C= | CA2246053532 | GUCY2D | c.531C= (p.Arg177=)
| |
17 | g.8003578C>G | CA497952910 | GUCY2D | c.531C>G (p.Arg177=)
| |
17 | g.8003578C>T | CA497952911 | GUCY2D | c.531C>T (p.Arg177=)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003579G>A | CA397944038 | GUCY2D | c.532G>A (p.Ala178Thr)
| dbSNP gnomAD v4 |
17 | g.8003579G>C | CA397944040 | GUCY2D | c.532G>C (p.Ala178Pro)
| |
17 | g.8003579G= | CA2246053533 | GUCY2D | c.532G= (p.Ala178=)
| |
17 | g.8003579G>T | CA397944042 | GUCY2D | c.532G>T (p.Ala178Ser)
| gnomAD v4 |
17 | g.8003580C>A | CA397944045 | GUCY2D | c.533C>A (p.Ala178Glu)
| gnomAD v4 |
17 | g.8003580C= | CA2246053535 | GUCY2D | c.533C= (p.Ala178=)
| |
17 | g.8003580C>G | CA397944048 | GUCY2D | c.533C>G (p.Ala178Gly)
| |
17 | g.8003580C>T | CA8365506 | GUCY2D | c.533C>T (p.Ala178Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003581A= | CA2246053538 | GUCY2D | c.534A= (p.Ala178=)
| |
17 | g.8003581A>C | CA497952915 | GUCY2D | c.534A>C (p.Ala178=)
| |
17 | g.8003581A>G | CA8365507 | GUCY2D | c.534A>G (p.Ala178=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003581A>T | CA287523321 | GUCY2D | c.534A>T (p.Ala178=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003582T>A | CA397944053 | GUCY2D | c.535T>A (p.Phe179Ile)
| |
17 | g.8003582T>C | CA397944055 | GUCY2D | c.535T>C (p.Phe179Leu)
| gnomAD v4 |
17 | g.8003582T>G | CA397944058 | GUCY2D | c.535T>G (p.Phe179Val)
| |
17 | g.8003583T>A | CA397944061 | GUCY2D | c.536T>A (p.Phe179Tyr)
| |
17 | g.8003583T>C | CA397944063 | GUCY2D | c.536T>C (p.Phe179Ser)
| COSMIC |
17 | g.8003583T>G | CA397944065 | GUCY2D | c.536T>G (p.Phe179Cys)
| |
17 | g.8003584C>A | CA397944070 | GUCY2D | c.537C>A (p.Phe179Leu)
| gnomAD v4 |
17 | g.8003584C= | CA2246053540 | GUCY2D | c.537C= (p.Phe179=)
| |
17 | g.8003584C>G | CA397944068 | GUCY2D | c.537C>G (p.Phe179Leu)
| |
17 | g.8003584C>T | CA497952916 | GUCY2D | c.537C>T (p.Phe179=)
| dbSNP gnomAD v4 |
17 | g.8003585G>A | CA397944073 | GUCY2D | c.538G>A (p.Gly180Ser)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.8003585G>C | CA397944075 | GUCY2D | c.538G>C (p.Gly180Arg)
| |
17 | g.8003585G= | CA2246053542 | GUCY2D | c.538G= (p.Gly180=)
| |
17 | g.8003585G>T | CA397944077 | GUCY2D | c.538G>T (p.Gly180Cys)
| dbSNP gnomAD v4 |
17 | g.8003586G>A | CA397944083 | GUCY2D | c.539G>A (p.Gly180Asp)
| dbSNP gnomAD v4 |
17 | g.8003586G>C | CA397944085 | GUCY2D | c.539G>C (p.Gly180Ala)
| |
17 | g.8003586G= | CA2246053544 | GUCY2D | c.539G= (p.Gly180=)
| |
17 | g.8003586G>T | CA397944088 | GUCY2D | c.539G>T (p.Gly180Val)
| dbSNP gnomAD v4 |
17 | g.8003587C>A | CA497952918 | GUCY2D | c.540C>A (p.Gly180=)
| gnomAD v4 |
17 | g.8003587C>G | CA497952919 | GUCY2D | c.540C>G (p.Gly180=)
| |
17 | g.8003587C>T | CA497952920 | GUCY2D | c.540C>T (p.Gly180=)
| gnomAD v4 |
17 | g.8003591_8003606dup | CA775505349 | GUCY2D | c.544_559dup (p.Val187GlyfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003588T>A | CA397944091 | GUCY2D | c.541T>A (p.Trp181Arg)
| |
17 | g.8003588T>C | CA397944095 | GUCY2D | c.541T>C (p.Trp181Arg)
| |
17 | g.8003588T>G | CA397944093 | GUCY2D | c.541T>G (p.Trp181Gly)
| gnomAD v4 |
17 | g.8003589G>A | CA397944098 | GUCY2D | c.542G>A (p.Trp181Ter)
| gnomAD v4 |
17 | g.8003589G>C | CA397944100 | GUCY2D | c.542G>C (p.Trp181Ser)
| |
17 | g.8003589G>T | CA397944102 | GUCY2D | c.542G>T (p.Trp181Leu)
| gnomAD v4 |
17 | g.8003591del | CA2635950342 | GUCY2D | c.544del (p.Ala182ArgfsTer?)
| gnomAD v4 |
17 | g.8003590G>A | CA397944105 | GUCY2D | c.543G>A (p.Trp181Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003590G>C | CA397944107 | GUCY2D | c.543G>C (p.Trp181Cys)
| gnomAD v4 |
17 | g.8003590G= | CA2246053548 | GUCY2D | c.543G= (p.Trp181=)
| |
17 | g.8003590G>T | CA397944109 | GUCY2D | c.543G>T (p.Trp181Cys)
| dbSNP gnomAD v4 |
17 | g.8003591_8003595del | CA2635950354 | GUCY2D | c.544_548del (p.Ala182ArgfsTer?)
| gnomAD v4 |
17 | g.8003591G>A | CA397944113 | GUCY2D | c.544G>A (p.Ala182Thr)
| gnomAD v4 |
17 | g.8003591G>C | CA397944115 | GUCY2D | c.544G>C (p.Ala182Pro)
| |
17 | g.8003591G>T | CA397944117 | GUCY2D | c.544G>T (p.Ala182Ser)
| gnomAD v4 |
17 | g.8003592C>A | CA397944120 | GUCY2D | c.545C>A (p.Ala182Glu)
| gnomAD v4 |
17 | g.8003592C= | CA2246053550 | GUCY2D | c.545C= (p.Ala182=)
| |
17 | g.8003592C>G | CA397944122 | GUCY2D | c.545C>G (p.Ala182Gly)
| |
17 | g.8003592C>T | CA397944124 | GUCY2D | c.545C>T (p.Ala182Val)
| dbSNP gnomAD v4 |
17 | g.8003593G>A | CA497952924 | GUCY2D | c.546G>A (p.Ala182=)
| gnomAD v4 |
17 | g.8003593G>C | CA497952925 | GUCY2D | c.546G>C (p.Ala182=)
| |
17 | g.8003593G>T | CA497952926 | GUCY2D | c.546G>T (p.Ala182=)
| gnomAD v4 |
17 | g.8003594C>A | CA397944132 | GUCY2D | c.547C>A (p.Arg183Ser)
| gnomAD v4 |
17 | g.8003594C= | CA2246053552 | GUCY2D | c.547C= (p.Arg183=)
| |
17 | g.8003594C>G | CA397944127 | GUCY2D | c.547C>G (p.Arg183Gly)
| |
17 | g.8003594C>T | CA397944129 | GUCY2D | c.547C>T (p.Arg183Cys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003595G>A | CA397944135 | GUCY2D | c.548G>A (p.Arg183His)
| ClinVar gnomAD v4 |
17 | g.8003595G>C | CA397944136 | GUCY2D | c.548G>C (p.Arg183Pro)
| gnomAD v4 |
17 | g.8003595G>T | CA397944139 | GUCY2D | c.548G>T (p.Arg183Leu)
| gnomAD v4 |
17 | g.8003596C>A | CA497952930 | GUCY2D | c.549C>A (p.Arg183=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003596C= | CA2246053554 | GUCY2D | c.549C= (p.Arg183=)
| |
17 | g.8003596C>G | CA497952932 | GUCY2D | c.549C>G (p.Arg183=)
| gnomAD v4 |
17 | g.8003596C>T | CA497952931 | GUCY2D | c.549C>T (p.Arg183=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.8003597G>A | CA397944142 | GUCY2D | c.550G>A (p.Val184Met)
| dbSNP gnomAD v4 |
17 | g.8003597G>C | CA397944144 | GUCY2D | c.550G>C (p.Val184Leu)
| |
17 | g.8003597G= | CA2246053555 | GUCY2D | c.550G= (p.Val184=)
| |
17 | g.8003597G>T | CA397944146 | GUCY2D | c.550G>T (p.Val184Leu)
| gnomAD v4 |
17 | g.8003598T>A | CA397944149 | GUCY2D | c.551T>A (p.Val184Glu)
| |
17 | g.8003598T>C | CA397944151 | GUCY2D | c.551T>C (p.Val184Ala)
| |
17 | g.8003598T>G | CA397944154 | GUCY2D | c.551T>G (p.Val184Gly)
| |
17 | g.8003599G>A | CA497952935 | GUCY2D | c.552G>A (p.Val184=)
| gnomAD v2 gnomAD v4 |
17 | g.8003599G>C | CA497952937 | GUCY2D | c.552G>C (p.Val184=)
| |
17 | g.8003599G>T | CA497952938 | GUCY2D | c.552G>T (p.Val184=)
| gnomAD v4 |
17 | g.8003600del | CA2840382283 | GUCY2D | c.553del (p.Ala185ProfsTer?)
| |
17 | g.8003599_8003602delinsGGCC | CA2246053557 | GUCY2D | c.552_555delinsGGCC (p.Val184=)
| |
17 | g.8003600G>A | CA397944157 | GUCY2D | c.553G>A (p.Ala185Thr)
| gnomAD v4 COSMIC |
17 | g.8003600G>C | CA397944160 | GUCY2D | c.553G>C (p.Ala185Pro)
| |
17 | g.8003600G>T | CA397944163 | GUCY2D | c.553G>T (p.Ala185Ser)
| gnomAD v4 |
17 | g.8003600_8003602del | CA8365508 | GUCY2D | c.553_555del (p.Ala185del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003601C>A | CA397944172 | GUCY2D | c.554C>A (p.Ala185Asp)
| gnomAD v4 |
17 | g.8003601C= | CA2246053562 | GUCY2D | c.554C= (p.Ala185=)
| |
17 | g.8003601C>G | CA397944168 | GUCY2D | c.554C>G (p.Ala185Gly)
| |
17 | g.8003601C>T | CA397944170 | GUCY2D | c.554C>T (p.Ala185Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003602C>A | CA497952939 | GUCY2D | c.555C>A (p.Ala185=)
| gnomAD v4 |
17 | g.8003602C>G | CA497952940 | GUCY2D | c.555C>G (p.Ala185=)
| |
17 | g.8003602C>T | CA497952941 | GUCY2D | c.555C>T (p.Ala185=)
| gnomAD v4 |
17 | g.8003603C>A | CA397944175 | GUCY2D | c.556C>A (p.Leu186Met)
| gnomAD v4 |
17 | g.8003603C= | CA2246053563 | GUCY2D | c.556C= (p.Leu186=)
| |
17 | g.8003603C>G | CA397944178 | GUCY2D | c.556C>G (p.Leu186Val)
| |
17 | g.8003603C>T | CA8365509 | GUCY2D | c.556C>T (p.Leu186=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003604T>A | CA397944182 | GUCY2D | c.557T>A (p.Leu186Gln)
| |
17 | g.8003604T>C | CA397944184 | GUCY2D | c.557T>C (p.Leu186Pro)
| |
17 | g.8003604T>G | CA397944186 | GUCY2D | c.557T>G (p.Leu186Arg)
| |
17 | g.8003605G>A | CA497952948 | GUCY2D | c.558G>A (p.Leu186=)
| dbSNP gnomAD v4 |
17 | g.8003605G>C | CA497952946 | GUCY2D | c.558G>C (p.Leu186=)
| gnomAD v4 |
17 | g.8003605G= | CA2246053565 | GUCY2D | c.558G= (p.Leu186=)
| |
17 | g.8003605G>T | CA497952947 | GUCY2D | c.558G>T (p.Leu186=)
| gnomAD v4 |
17 | g.8003606G>A | CA397944189 | GUCY2D | c.559G>A (p.Val187Ile)
| gnomAD v4 |
17 | g.8003606G>C | CA397944191 | GUCY2D | c.559G>C (p.Val187Leu)
| |
17 | g.8003606G= | CA2246053567 | GUCY2D | c.559G= (p.Val187=)
| |
17 | g.8003606G>T | CA397944193 | GUCY2D | c.559G>T (p.Val187Phe)
| dbSNP gnomAD v4 |
17 | g.8003607T>A | CA397944197 | GUCY2D | c.560T>A (p.Val187Asp)
| |
17 | g.8003607T>C | CA397944199 | GUCY2D | c.560T>C (p.Val187Ala)
| gnomAD v4 |
17 | g.8003607T>G | CA397944202 | GUCY2D | c.560T>G (p.Val187Gly)
| |
17 | g.8003608C>A | CA497952952 | GUCY2D | c.561C>A (p.Val187=)
| gnomAD v4 |
17 | g.8003608C= | CA2246053568 | GUCY2D | c.561C= (p.Val187=)
| |
17 | g.8003608C>G | CA497952953 | GUCY2D | c.561C>G (p.Val187=)
| |
17 | g.8003608C>T | CA497952954 | GUCY2D | c.561C>T (p.Val187=)
| |
17 | g.8003609A>C | CA397944205 | GUCY2D | c.562A>C (p.Thr188Pro)
| |
17 | g.8003609A>G | CA397944209 | GUCY2D | c.562A>G (p.Thr188Ala)
| gnomAD v4 |
17 | g.8003609A>T | CA397944207 | GUCY2D | c.562A>T (p.Thr188Ser)
| |
17 | g.8003609_8003612dup | CA1139664110 | GUCY2D | c.562_565dup (p.Ala189AspfsTer?)
| ClinVar dbSNP |
17 | g.8003610C>A | CA397944212 | GUCY2D | c.563C>A (p.Thr188Asn)
| |
17 | g.8003610C= | CA2246053572 | GUCY2D | c.563C= (p.Thr188=)
| |
17 | g.8003610C>G | CA397944214 | GUCY2D | c.563C>G (p.Thr188Ser)
| |
17 | g.8003610C>T | CA397944216 | GUCY2D | c.563C>T (p.Thr188Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003611dup | CA2695224290 | GUCY2D | c.564dup (p.Ala189ArgfsTer?)
| |
17 | g.8003611del | CA2499224988 | GUCY2D | c.564del (p.Ala189ProfsTer27)
| ClinVar dbSNP |
17 | g.8003611C>A | CA497952957 | GUCY2D | c.564C>A (p.Thr188=)
| gnomAD v4 |
17 | g.8003611C= | CA2246053573 | GUCY2D | c.564C= (p.Thr188=)
| |
17 | g.8003611C>G | CA497952955 | GUCY2D | c.564C>G (p.Thr188=)
| |
17 | g.8003611C>T | CA497952956 | GUCY2D | c.564C>T (p.Thr188=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003612del | CA2840382284 | GUCY2D | c.565del (p.Ala189ProfsTer27)
| |
17 | g.8003612G>A | CA397944219 | GUCY2D | c.565G>A (p.Ala189Thr)
| gnomAD v4 |
17 | g.8003612G>C | CA397944222 | GUCY2D | c.565G>C (p.Ala189Pro)
| |
17 | g.8003612G>T | CA397944224 | GUCY2D | c.565G>T (p.Ala189Ser)
| gnomAD v4 |
17 | g.8003612_8003613delinsGC | CA2246053574 | GUCY2D | c.565_566delinsGC (p.Ala189=)
| |
17 | g.8003613C>A | CA397944234 | GUCY2D | c.566C>A (p.Ala189Asp)
| |
17 | g.8003613C= | CA2246053579 | GUCY2D | c.566C= (p.Ala189=)
| |
17 | g.8003613C>G | CA397944228 | GUCY2D | c.566C>G (p.Ala189Gly)
| gnomAD v4 |
17 | g.8003613C>T | CA8365510 | GUCY2D | c.566C>T (p.Ala189Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003613_8003618delinsTGGGTGGAGG | CA2695224291 | GUCY2D | c.566_571delinsTGGGTGGAGG (p.Ala189ValfsTer?)
| |
17 | g.8003618dup | CA624867833 | GUCY2D | c.571dup (p.Gln191ProfsTer?)
| ClinVar gnomAD v2 gnomAD v4 |
17 | g.8003618del | CA397944230 | GUCY2D | c.571del (p.Gln191ArgfsTer25)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.8003614C>A | CA497952960 | GUCY2D | c.567C>A (p.Ala189=)
| gnomAD v4 |
17 | g.8003614C= | CA2246053582 | GUCY2D | c.567C= (p.Ala189=)
| |
17 | g.8003614C>G | CA287523343 | GUCY2D | c.567C>G (p.Ala189=)
| ClinVar dbSNP |
17 | g.8003614C>T | CA497952961 | GUCY2D | c.567C>T (p.Ala189=)
| gnomAD v4 |
17 | g.8003615C>A | CA397944239 | GUCY2D | c.568C>A (p.Pro190Thr)
| |
17 | g.8003615C>G | CA397944241 | GUCY2D | c.568C>G (p.Pro190Ala)
| |
17 | g.8003615C>T | CA397944244 | GUCY2D | c.568C>T (p.Pro190Ser)
| |
17 | g.8003616C>A | CA397944255 | GUCY2D | c.569C>A (p.Pro190His)
| |
17 | g.8003616C= | CA2246053585 | GUCY2D | c.569C= (p.Pro190=)
| |
17 | g.8003616C>G | CA397944247 | GUCY2D | c.569C>G (p.Pro190Arg)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003616C>T | CA397944253 | GUCY2D | c.569C>T (p.Pro190Leu)
| |
17 | g.8003617C>A | CA497952965 | GUCY2D | c.570C>A (p.Pro190=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003617C= | CA2246053588 | GUCY2D | c.570C= (p.Pro190=)
| |
17 | g.8003617C>G | CA497952966 | GUCY2D | c.570C>G (p.Pro190=)
| |
17 | g.8003617C>T | CA497952967 | GUCY2D | c.570C>T (p.Pro190=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003618C>A | CA397944258 | GUCY2D | c.571C>A (p.Gln191Lys)
| gnomAD v4 |
17 | g.8003618C= | CA2246053590 | GUCY2D | c.571C= (p.Gln191=)
| |
17 | g.8003618C>G | CA397944261 | GUCY2D | c.571C>G (p.Gln191Glu)
| |
17 | g.8003618C>T | CA8365511 | GUCY2D | c.571C>T (p.Gln191Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003619A= | CA2246053593 | GUCY2D | c.572A= (p.Gln191=)
| |
17 | g.8003619A>C | CA397944265 | GUCY2D | c.572A>C (p.Gln191Pro)
| |
17 | g.8003619A>G | CA8365512 | GUCY2D | c.572A>G (p.Gln191Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003619A>T | CA397944269 | GUCY2D | c.572A>T (p.Gln191Leu)
| gnomAD v4 |
17 | g.8003620G>A | CA8365513 | GUCY2D | c.573G>A (p.Gln191=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003620G>C | CA397944274 | GUCY2D | c.573G>C (p.Gln191His)
| |
17 | g.8003620G= | CA2246053595 | GUCY2D | c.573G= (p.Gln191=)
| |
17 | g.8003620G>T | CA397944276 | GUCY2D | c.573G>T (p.Gln191His)
| gnomAD v4 |
17 | g.8003621G>A | CA397944279 | GUCY2D | c.574G>A (p.Asp192Asn)
| |
17 | g.8003621G>C | CA397944281 | GUCY2D | c.574G>C (p.Asp192His)
| |
17 | g.8003621G>T | CA397944283 | GUCY2D | c.574G>T (p.Asp192Tyr)
| |
17 | g.8003622A= | CA2246053598 | GUCY2D | c.575A= (p.Asp192=)
| |
17 | g.8003622A>C | CA397944287 | GUCY2D | c.575A>C (p.Asp192Ala)
| |
17 | g.8003622A>G | CA397944291 | GUCY2D | c.575A>G (p.Asp192Gly)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003622A>T | CA397944289 | GUCY2D | c.575A>T (p.Asp192Val)
| |
17 | g.8003623C>A | CA8365514 | GUCY2D | c.576C>A (p.Asp192Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003623C= | CA2246053600 | GUCY2D | c.576C= (p.Asp192=)
| |
17 | g.8003623C>G | CA397944295 | GUCY2D | c.576C>G (p.Asp192Glu)
| |
17 | g.8003623C>T | CA497952973 | GUCY2D | c.576C>T (p.Asp192=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003624C>A | CA397944298 | GUCY2D | c.577C>A (p.Leu193Met)
| gnomAD v4 |
17 | g.8003624C= | CA2246053603 | GUCY2D | c.577C= (p.Leu193=)
| |
17 | g.8003624C>G | CA8365515 | GUCY2D | c.577C>G (p.Leu193Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003624C>T | CA226149 | GUCY2D | c.577C>T (p.Leu193=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8003625T>A | CA397944302 | GUCY2D | c.578T>A (p.Leu193Gln)
| COSMIC |
17 | g.8003625T>C | CA397944304 | GUCY2D | c.578T>C (p.Leu193Pro)
| gnomAD v4 COSMIC |
17 | g.8003625T>G | CA397944307 | GUCY2D | c.578T>G (p.Leu193Arg)
| |
17 | g.8003626G>A | CA497952978 | GUCY2D | c.579G>A (p.Leu193=)
| |
17 | g.8003626G>C | CA287523360 | GUCY2D | c.579G>C (p.Leu193=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.8003626G= | CA2246053606 | GUCY2D | c.579G= (p.Leu193=)
| |
17 | g.8003626G>T | CA497952979 | GUCY2D | c.579G>T (p.Leu193=)
| gnomAD v4 |
17 | g.8003627T>A | CA397944310 | GUCY2D | c.580T>A (p.Trp194Arg)
| |
17 | g.8003627T>C | CA397944312 | GUCY2D | c.580T>C (p.Trp194Arg)
| |
17 | g.8003627T>G | CA397944314 | GUCY2D | c.580T>G (p.Trp194Gly)
| |
17 | g.8003628G>A | CA397944322 | GUCY2D | c.581G>A (p.Trp194Ter)
| COSMIC |
17 | g.8003628G>C | CA397944319 | GUCY2D | c.581G>C (p.Trp194Ser)
| |
17 | g.8003628G>T | CA397944317 | GUCY2D | c.581G>T (p.Trp194Leu)
| gnomAD v4 |
17 | g.8003629G>A | CA397944325 | GUCY2D | c.582G>A (p.Trp194Ter)
| |
17 | g.8003629G>C | CA397944327 | GUCY2D | c.582G>C (p.Trp194Cys)
| |
17 | g.8003629G>T | CA397944329 | GUCY2D | c.582G>T (p.Trp194Cys)
| gnomAD v4 |
17 | g.8003630G>A | CA397944332 | GUCY2D | c.583G>A (p.Val195Met)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003630G>C | CA397944334 | GUCY2D | c.583G>C (p.Val195Leu)
| |
17 | g.8003630G= | CA2246053608 | GUCY2D | c.583G= (p.Val195=)
| |
17 | g.8003630G>T | CA397944336 | GUCY2D | c.583G>T (p.Val195Leu)
| gnomAD v4 |
17 | g.8003631T>A | CA397944340 | GUCY2D | c.584T>A (p.Val195Glu)
| |
17 | g.8003631T>C | CA397944341 | GUCY2D | c.584T>C (p.Val195Ala)
| gnomAD v4 |
17 | g.8003631T>G | CA397944343 | GUCY2D | c.584T>G (p.Val195Gly)
| |
17 | g.8003632G>A | CA497952988 | GUCY2D | c.585G>A (p.Val195=)
| gnomAD v4 |
17 | g.8003632G>C | CA497952991 | GUCY2D | c.585G>C (p.Val195=)
| |
17 | g.8003632G>T | CA497952990 | GUCY2D | c.585G>T (p.Val195=)
| gnomAD v4 |
17 | g.8003633G>A | CA397944346 | GUCY2D | c.586G>A (p.Glu196Lys)
| |
17 | g.8003633G>C | CA397944349 | GUCY2D | c.586G>C (p.Glu196Gln)
| |
17 | g.8003633G>T | CA397944351 | GUCY2D | c.586G>T (p.Glu196Ter)
| gnomAD v4 |
17 | g.8003634A>C | CA397944359 | GUCY2D | c.587A>C (p.Glu196Ala)
| |
17 | g.8003634A>G | CA397944356 | GUCY2D | c.587A>G (p.Glu196Gly)
| |
17 | g.8003634A>T | CA397944354 | GUCY2D | c.587A>T (p.Glu196Val)
| |
17 | g.8003635G>A | CA497952996 | GUCY2D | c.588G>A (p.Glu196=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003635G>C | CA397944362 | GUCY2D | c.588G>C (p.Glu196Asp)
| |
17 | g.8003635G= | CA2246053610 | GUCY2D | c.588G= (p.Glu196=)
| |
17 | g.8003635G>T | CA397944363 | GUCY2D | c.588G>T (p.Glu196Asp)
| gnomAD v4 |
17 | g.8003636G>A | CA397944367 | GUCY2D | c.589G>A (p.Ala197Thr)
| |
17 | g.8003636G>C | CA397944372 | GUCY2D | c.589G>C (p.Ala197Pro)
| |
17 | g.8003636G>T | CA397944369 | GUCY2D | c.589G>T (p.Ala197Ser)
| gnomAD v4 |
17 | g.8003637C>A | CA397944375 | GUCY2D | c.590C>A (p.Ala197Glu)
| gnomAD v4 |
17 | g.8003637C>G | CA397944377 | GUCY2D | c.590C>G (p.Ala197Gly)
| |
17 | g.8003637C>T | CA397944379 | GUCY2D | c.590C>T (p.Ala197Val)
| ClinVar gnomAD v4 |
17 | g.8003638G>A | CA497953001 | GUCY2D | c.591G>A (p.Ala197=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003638G>C | CA497953004 | GUCY2D | c.591G>C (p.Ala197=)
| ClinVar |
17 | g.8003638G= | CA2246053612 | GUCY2D | c.591G= (p.Ala197=)
| |
17 | g.8003638G>T | CA497953003 | GUCY2D | c.591G>T (p.Ala197=)
| gnomAD v4 |
17 | g.8003640del | CA2635950592 | GUCY2D | c.593del (p.Gly198AspfsTer18)
| gnomAD v4 |
17 | g.8003639G>A | CA397944381 | GUCY2D | c.592G>A (p.Gly198Arg)
| gnomAD v4 |
17 | g.8003639G>C | CA397944384 | GUCY2D | c.592G>C (p.Gly198Arg)
| |
17 | g.8003639G>T | CA397944387 | GUCY2D | c.592G>T (p.Gly198Ter)
| gnomAD v4 |
17 | g.8003640G>A | CA397944394 | GUCY2D | c.593G>A (p.Gly198Glu)
| |
17 | g.8003640G>C | CA397944392 | GUCY2D | c.593G>C (p.Gly198Ala)
| |
17 | g.8003640G>T | CA397944389 | GUCY2D | c.593G>T (p.Gly198Val)
| gnomAD v4 |
17 | g.8003641A>C | CA497953005 | GUCY2D | c.594A>C (p.Gly198=)
| |
17 | g.8003641A>G | CA497953006 | GUCY2D | c.594A>G (p.Gly198=)
| |
17 | g.8003641A>T | CA497953007 | GUCY2D | c.594A>T (p.Gly198=)
| |
17 | g.8003642C>A | CA287523361 | GUCY2D | c.595C>A (p.Arg199Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8003642C= | CA2246053615 | GUCY2D | c.595C= (p.Arg199=)
| |
17 | g.8003642C>G | CA397944399 | GUCY2D | c.595C>G (p.Arg199Gly)
| |
17 | g.8003642C>T | CA397944401 | GUCY2D | c.595C>T (p.Arg199Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003643G>A | CA397944404 | GUCY2D | c.596G>A (p.Arg199His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003643G>C | CA397944406 | GUCY2D | c.596G>C (p.Arg199Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.8003643G= | CA2246053619 | GUCY2D | c.596G= (p.Arg199=)
| |
17 | g.8003643G>T | CA397944409 | GUCY2D | c.596G>T (p.Arg199Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.8003644C>A | CA497953009 | GUCY2D | c.597C>A (p.Arg199=)
| |
17 | g.8003644C>G | CA497953010 | GUCY2D | c.597C>G (p.Arg199=)
| |
17 | g.8003644C>T | CA497953011 | GUCY2D | c.597C>T (p.Arg199=)
| gnomAD v4 |