| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41769490G>A | CA8565506 | JUP | c.396C>T (p.Asn132=) c.447C>T (p.Asn149=) | ClinVar dbSNP ExAC |
| 17 | g.41769490G>C | CA399505080 | JUP | c.396C>G (p.Asn132Lys) c.447C>G (p.Asn149Lys) | |
| 17 | g.41769490G= | CA2260176165 | JUP | c.396C= (p.Asn132=) c.447C= (p.Asn149=) | |
| 17 | g.41769490G>T | CA399505079 | JUP | c.396C>A (p.Asn132Lys) c.447C>A (p.Asn149Lys) | COSMIC |
| 17 | g.41769491T>A | CA399505082 | JUP | c.395A>T (p.Asn132Ile) c.446A>T (p.Asn149Ile) | |
| 17 | g.41769491T>C | CA399505086 | JUP | c.395A>G (p.Asn132Ser) c.446A>G (p.Asn149Ser) | |
| 17 | g.41769491T>G | CA399505084 | JUP | c.395A>C (p.Asn132Thr) c.446A>C (p.Asn149Thr) | |
| 17 | g.41769492del | CA2809501745 | JUP | c.395del (p.Asn132ThrfsTer28) c.446del (p.Asn149ThrfsTer28) | |
| 17 | g.41769491_41769494delinsTTGA | CA2260176166 | JUP | c.392_395delinsTCAA (p.Ile131=) c.443_446delinsTCAA (p.Ile148=) | |
| 17 | g.41769492T>A | CA399505088 | JUP | c.394A>T (p.Asn132Tyr) c.445A>T (p.Asn149Tyr) | |
| 17 | g.41769492T>C | CA399505090 | JUP | c.394A>G (p.Asn132Asp) c.445A>G (p.Asn149Asp) | |
| 17 | g.41769492T>G | CA399505092 | JUP | c.394A>C (p.Asn132His) c.445A>C (p.Asn149His) | |
| 17 | g.41769495_41769497del | CA16609792 | JUP | c.392_394del (p.Ile131del) c.443_445del (p.Ile148del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769493G>A | CA500207632 | JUP | c.393C>T (p.Ile131=) c.444C>T (p.Ile148=) | |
| 17 | g.41769493G>C | CA399505093 | JUP | c.393C>G (p.Ile131Met) c.444C>G (p.Ile148Met) | COSMIC |
| 17 | g.41769493G>T | CA500207633 | JUP | c.393C>A (p.Ile131=) c.444C>A (p.Ile148=) | |
| 17 | g.41769494A= | CA2260176167 | JUP | c.392T= (p.Ile131=) c.443T= (p.Ile148=) | |
| 17 | g.41769494A>C | CA399505099 | JUP | c.392T>G (p.Ile131Ser) c.443T>G (p.Ile148Ser) | |
| 17 | g.41769494A>G | CA399505100 | JUP | c.392T>C (p.Ile131Thr) c.443T>C (p.Ile148Thr) | gnomAD v4 |
| 17 | g.41769494A>T | CA399505102 | JUP | c.392T>A (p.Ile131Asn) c.443T>A (p.Ile148Asn) | |
| 17 | g.41769495T>A | CA399505104 | JUP | c.391A>T (p.Ile131Phe) c.442A>T (p.Ile148Phe) | |
| 17 | g.41769495T>C | CA399505106 | JUP | c.391A>G (p.Ile131Val) c.442A>G (p.Ile148Val) | |
| 17 | g.41769495T>G | CA399505108 | JUP | c.391A>C (p.Ile131Leu) c.442A>C (p.Ile148Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769495T= | CA2260176168 | JUP | c.391A= (p.Ile131=) c.442A= (p.Ile148=) | |
| 17 | g.41769495_41769502dup | CA983789215 | JUP | c.384_391dup (p.Ile131SerfsTer32) c.435_442dup (p.Ile148SerfsTer32) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769496G>A | CA500207634 | JUP | c.390C>T (p.Leu130=) c.441C>T (p.Leu147=) | dbSNP gnomAD v2 |
| 17 | g.41769496G>C | CA500207636 | JUP | c.390C>G (p.Leu130=) c.441C>G (p.Leu147=) | ClinVar dbSNP |
| 17 | g.41769496G= | CA2260176169 | JUP | c.390C= (p.Leu130=) c.441C= (p.Leu147=) | |
| 17 | g.41769496G>T | CA500207635 | JUP | c.390C>A (p.Leu130=) c.441C>A (p.Leu147=) | |
| 17 | g.41769497A>C | CA399505111 | JUP | c.389T>G (p.Leu130Arg) c.440T>G (p.Leu147Arg) | |
| 17 | g.41769497A>G | CA399505120 | JUP | c.389T>C (p.Leu130Pro) c.440T>C (p.Leu147Pro) | |
| 17 | g.41769497A>T | CA399505121 | JUP | c.389T>A (p.Leu130His) c.440T>A (p.Leu147His) | |
| 17 | g.41769498G>A | CA399505126 | JUP | c.388C>T (p.Leu130Phe) c.439C>T (p.Leu147Phe) | gnomAD v4 |
| 17 | g.41769498G>C | CA399505124 | JUP | c.388C>G (p.Leu130Val) c.439C>G (p.Leu147Val) | |
| 17 | g.41769498G>T | CA399505125 | JUP | c.388C>A (p.Leu130Ile) c.439C>A (p.Leu147Ile) | |
| 17 | g.41769499A>C | CA399505127 | JUP | c.387T>G (p.His129Gln) c.438T>G (p.His146Gln) | |
| 17 | g.41769499A>G | CA500207637 | JUP | c.387T>C (p.His129=) c.438T>C (p.His146=) | |
| 17 | g.41769499A>T | CA399505128 | JUP | c.387T>A (p.His129Gln) c.438T>A (p.His146Gln) | |
| 17 | g.41769500T>A | CA399505130 | JUP | c.386A>T (p.His129Leu) c.437A>T (p.His146Leu) | |
| 17 | g.41769500T>C | CA399505133 | JUP | c.386A>G (p.His129Arg) c.437A>G (p.His146Arg) | gnomAD v4 |
| 17 | g.41769500T>G | CA399505135 | JUP | c.386A>C (p.His129Pro) c.437A>C (p.His146Pro) | |
| 17 | g.41769501G>A | CA399505138 | JUP | c.385C>T (p.His129Tyr) c.436C>T (p.His146Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769501G>C | CA399505139 | JUP | c.385C>G (p.His129Asp) c.436C>G (p.His146Asp) | |
| 17 | g.41769501G= | CA2260176170 | JUP | c.385C= (p.His129=) c.436C= (p.His146=) | |
| 17 | g.41769501G>T | CA399505142 | JUP | c.385C>A (p.His129Asn) c.436C>A (p.His146Asn) | |
| 17 | g.41769502C>A | CA8565507 | JUP | c.384G>T (p.Val128=) c.435G>T (p.Val145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769502C= | CA2260176171 | JUP | c.384G= (p.Val128=) c.435G= (p.Val145=) | |
| 17 | g.41769502C>G | CA500207638 | JUP | c.384G>C (p.Val128=) c.435G>C (p.Val145=) | |
| 17 | g.41769502C>T | CA8565508 | JUP | c.384G>A (p.Val128=) c.435G>A (p.Val145=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769503A>C | CA399505161 | JUP | c.383T>G (p.Val128Gly) c.434T>G (p.Val145Gly) | |
| 17 | g.41769503A>G | CA399505157 | JUP | c.383T>C (p.Val128Ala) c.434T>C (p.Val145Ala) | |
| 17 | g.41769503A>T | CA399505155 | JUP | c.383T>A (p.Val128Glu) c.434T>A (p.Val145Glu) | |
| 17 | g.41769504C>A | CA399505165 | JUP | c.382G>T (p.Val128Leu) c.433G>T (p.Val145Leu) | |
| 17 | g.41769504C>G | CA399505166 | JUP | c.382G>C (p.Val128Leu) c.433G>C (p.Val145Leu) | |
| 17 | g.41769504C>T | CA399505169 | JUP | c.382G>A (p.Val128Met) c.433G>A (p.Val145Met) | ClinVar gnomAD v4 |
| 17 | g.41769505A= | CA2260176172 | JUP | c.381T= (p.Ile127=) c.432T= (p.Ile144=) | |
| 17 | g.41769505A>C | CA399505173 | JUP | c.381T>G (p.Ile127Met) c.432T>G (p.Ile144Met) | |
| 17 | g.41769505A>G | CA500207639 | JUP | c.381T>C (p.Ile127=) c.432T>C (p.Ile144=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769505A>T | CA500207640 | JUP | c.381T>A (p.Ile127=) c.432T>A (p.Ile144=) | |
| 17 | g.41769506A>C | CA399505175 | JUP | c.380T>G (p.Ile127Ser) c.431T>G (p.Ile144Ser) | |
| 17 | g.41769506A>G | CA399505177 | JUP | c.380T>C (p.Ile127Thr) c.431T>C (p.Ile144Thr) | |
| 17 | g.41769506A>T | CA399505180 | JUP | c.380T>A (p.Ile127Asn) c.431T>A (p.Ile144Asn) | |
| 17 | g.41769506_41769507insCTCATCAAGTTGA | CA2260176173 | JUP | c.380_381insCAACTTGATGAGT (p.Val128AsnfsTer?) c.431_432insCAACTTGATGAGT (p.Val145AsnfsTer?) | dbSNP |
| 17 | g.41769507T>A | CA399505183 | JUP | c.379A>T (p.Ile127Phe) c.430A>T (p.Ile144Phe) | |
| 17 | g.41769507T>C | CA399505186 | JUP | c.379A>G (p.Ile127Val) c.430A>G (p.Ile144Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769507T>G | CA399505189 | JUP | c.379A>C (p.Ile127Leu) c.430A>C (p.Ile144Leu) | |
| 17 | g.41769507T= | CA2260176174 | JUP | c.379A= (p.Ile127=) c.430A= (p.Ile144=) | |
| 17 | g.41769508G>A | CA500207641 | JUP | c.378C>T (p.Ala126=) c.429C>T (p.Ala143=) | |
| 17 | g.41769508G>C | CA500207643 | JUP | c.378C>G (p.Ala126=) c.429C>G (p.Ala143=) | |
| 17 | g.41769508G= | CA2260176175 | JUP | c.378C= (p.Ala126=) c.429C= (p.Ala143=) | |
| 17 | g.41769508G>T | CA500207642 | JUP | c.378C>A (p.Ala126=) c.429C>A (p.Ala143=) | |
| 17 | g.41769508_41769509insA | CA2260176176 | JUP | c.377_378insT (p.Ile127HisfsTer?) c.428_429insT (p.Ile144HisfsTer?) | dbSNP |
| 17 | g.41769509G>A | CA399505192 | JUP | c.377C>T (p.Ala126Val) c.428C>T (p.Ala143Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769509G>C | CA399505196 | JUP | c.377C>G (p.Ala126Gly) c.428C>G (p.Ala143Gly) | |
| 17 | g.41769509G= | CA2260176177 | JUP | c.377C= (p.Ala126=) c.428C= (p.Ala143=) | |
| 17 | g.41769509G>T | CA399505198 | JUP | c.377C>A (p.Ala126Asp) c.428C>A (p.Ala143Asp) | |
| 17 | g.41769510C>A | CA399505201 | JUP | c.376G>T (p.Ala126Ser) c.427G>T (p.Ala143Ser) | |
| 17 | g.41769510C= | CA2260176178 | JUP | c.376G= (p.Ala126=) c.427G= (p.Ala143=) | |
| 17 | g.41769510C>G | CA399505206 | JUP | c.376G>C (p.Ala126Pro) c.427G>C (p.Ala143Pro) | |
| 17 | g.41769510C>T | CA399505203 | JUP | c.376G>A (p.Ala126Thr) c.427G>A (p.Ala143Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769511C>A | CA500207644 | JUP | c.375G>T (p.Ser125=) c.426G>T (p.Ser142=) | |
| 17 | g.41769511C= | CA2260176179 | JUP | c.375G= (p.Ser125=) c.426G= (p.Ser142=) | |
| 17 | g.41769511C>G | CA8565510 | JUP | c.375G>C (p.Ser125=) c.426G>C (p.Ser142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769511C>T | CA8565509 | JUP | c.375G>A (p.Ser125=) c.426G>A (p.Ser142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769512G>A | CA8565511 | JUP | c.374C>T (p.Ser125Leu) c.425C>T (p.Ser142Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41769512G>C | CA399505207 | JUP | c.374C>G (p.Ser125Trp) c.425C>G (p.Ser142Trp) | |
| 17 | g.41769512G= | CA2260176180 | JUP | c.374C= (p.Ser125=) c.425C= (p.Ser142=) | |
| 17 | g.41769512G>T | CA399505208 | JUP | c.374C>A (p.Ser125Ter) c.425C>A (p.Ser142Ter) | gnomAD v4 |
| 17 | g.41769513A= | CA2260176181 | JUP | c.373T= (p.Ser125=) c.424T= (p.Ser142=) | |
| 17 | g.41769513A>C | CA399505209 | JUP | c.373T>G (p.Ser125Ala) c.424T>G (p.Ser142Ala) | |
| 17 | g.41769513A>G | CA8565512 | JUP | c.373T>C (p.Ser125Pro) c.424T>C (p.Ser142Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769513A>T | CA399505211 | JUP | c.373T>A (p.Ser125Thr) c.424T>A (p.Ser142Thr) | |
| 17 | g.41769514C>A | CA399505213 | JUP | c.372G>T (p.Lys124Asn) c.423G>T (p.Lys141Asn) | |
| 17 | g.41769514C= | CA2260176182 | JUP | c.372G= (p.Lys124=) c.423G= (p.Lys141=) | |
| 17 | g.41769514C>G | CA399505215 | JUP | c.372G>C (p.Lys124Asn) c.423G>C (p.Lys141Asn) | gnomAD v4 |
| 17 | g.41769514C>T | CA290700859 | JUP | c.372G>A (p.Lys124=) c.423G>A (p.Lys141=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769515T>A | CA399505221 | JUP | c.371A>T (p.Lys124Met) c.422A>T (p.Lys141Met) | |
| 17 | g.41769515T>C | CA399505220 | JUP | c.371A>G (p.Lys124Arg) c.422A>G (p.Lys141Arg) | gnomAD v4 |
| 17 | g.41769515T>G | CA399505217 | JUP | c.371A>C (p.Lys124Thr) c.422A>C (p.Lys141Thr) | |
| 17 | g.41769516T>A | CA399505224 | JUP | c.370A>T (p.Lys124Ter) c.421A>T (p.Lys141Ter) | ClinVar dbSNP |
| 17 | g.41769516T>C | CA399505228 | JUP | c.370A>G (p.Lys124Glu) c.421A>G (p.Lys141Glu) | |
| 17 | g.41769516T>G | CA399505226 | JUP | c.370A>C (p.Lys124Gln) c.421A>C (p.Lys141Gln) | |
| 17 | g.41769516T= | CA2260176183 | JUP | c.370A= (p.Lys124=) c.421A= (p.Lys141=) | |
| 17 | g.41769517G>A | CA8565513 | JUP | c.369C>T (p.Leu123=) c.420C>T (p.Leu140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769517G>C | CA500207645 | JUP | c.369C>G (p.Leu123=) c.420C>G (p.Leu140=) | dbSNP |
| 17 | g.41769517G= | CA2260176184 | JUP | c.369C= (p.Leu123=) c.420C= (p.Leu140=) | |
| 17 | g.41769517G>T | CA500207646 | JUP | c.369C>A (p.Leu123=) c.420C>A (p.Leu140=) | |
| 17 | g.41769518A>C | CA399505234 | JUP | c.368T>G (p.Leu123Arg) c.419T>G (p.Leu140Arg) | |
| 17 | g.41769518A>G | CA399505235 | JUP | c.368T>C (p.Leu123Pro) c.419T>C (p.Leu140Pro) | |
| 17 | g.41769518A>T | CA399505236 | JUP | c.368T>A (p.Leu123His) c.419T>A (p.Leu140His) | |
| 17 | g.41769519G>A | CA399505238 | JUP | c.367C>T (p.Leu123Phe) c.418C>T (p.Leu140Phe) | |
| 17 | g.41769519G>C | CA399505241 | JUP | c.367C>G (p.Leu123Val) c.418C>G (p.Leu140Val) | |
| 17 | g.41769519G>T | CA399505242 | JUP | c.367C>A (p.Leu123Ile) c.418C>A (p.Leu140Ile) | |
| 17 | g.41769520C>A | CA500207647 | JUP | c.366G>T (p.Leu122=) c.417G>T (p.Leu139=) | |
| 17 | g.41769520C>G | CA500207648 | JUP | c.366G>C (p.Leu122=) c.417G>C (p.Leu139=) | |
| 17 | g.41769520C>T | CA500207649 | JUP | c.366G>A (p.Leu122=) c.417G>A (p.Leu139=) | gnomAD v4 |
| 17 | g.41769521A>C | CA399505246 | JUP | c.365T>G (p.Leu122Arg) c.416T>G (p.Leu139Arg) | |
| 17 | g.41769521A>G | CA399505249 | JUP | c.365T>C (p.Leu122Pro) c.416T>C (p.Leu139Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769521A>T | CA399505251 | JUP | c.365T>A (p.Leu122Gln) c.416T>A (p.Leu139Gln) | |
| 17 | g.41769522G>A | CA500207650 | JUP | c.364C>T (p.Leu122=) c.415C>T (p.Leu139=) | |
| 17 | g.41769522G>C | CA399505253 | JUP | c.364C>G (p.Leu122Val) c.415C>G (p.Leu139Val) | |
| 17 | g.41769522G= | CA2260176185 | JUP | c.364C= (p.Leu122=) c.415C= (p.Leu139=) | |
| 17 | g.41769522G>T | CA8565514 | JUP | c.364C>A (p.Leu122Met) c.415C>A (p.Leu139Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769523C>A | CA399505258 | JUP | c.363G>T (p.Gln121His) c.414G>T (p.Gln138His) | |
| 17 | g.41769523C>G | CA399505255 | JUP | c.363G>C (p.Gln121His) c.414G>C (p.Gln138His) | |
| 17 | g.41769523C>T | CA500207651 | JUP | c.363G>A (p.Gln121=) c.414G>A (p.Gln138=) | |
| 17 | g.41769524T>A | CA399505260 | JUP | c.362A>T (p.Gln121Leu) c.413A>T (p.Gln138Leu) | |
| 17 | g.41769524T>C | CA399505261 | JUP | c.362A>G (p.Gln121Arg) c.413A>G (p.Gln138Arg) | |
| 17 | g.41769524T>G | CA399505264 | JUP | c.362A>C (p.Gln121Pro) c.413A>C (p.Gln138Pro) | |
| 17 | g.41769525G>A | CA290700865 | JUP | c.361C>T (p.Gln121Ter) c.412C>T (p.Gln138Ter) | dbSNP gnomAD v4 |
| 17 | g.41769525G>C | CA399505268 | JUP | c.361C>G (p.Gln121Glu) c.412C>G (p.Gln138Glu) | |
| 17 | g.41769525G= | CA2260176186 | JUP | c.361C= (p.Gln121=) c.412C= (p.Gln138=) | |
| 17 | g.41769525G>T | CA399505270 | JUP | c.361C>A (p.Gln121Lys) c.412C>A (p.Gln138Lys) | |
| 17 | g.41769526G>A | CA500207652 | JUP | c.360C>T (p.Ser120=) c.411C>T (p.Ser137=) | |
| 17 | g.41769526G>C | CA500207653 | JUP | c.360C>G (p.Ser120=) c.411C>G (p.Ser137=) | gnomAD v4 |
| 17 | g.41769526G>T | CA500207654 | JUP | c.360C>A (p.Ser120=) c.411C>A (p.Ser137=) | gnomAD v4 |
| 17 | g.41769527G>A | CA399505272 | JUP | c.359C>T (p.Ser120Phe) c.410C>T (p.Ser137Phe) | |
| 17 | g.41769527G>C | CA399505276 | JUP | c.359C>G (p.Ser120Cys) c.410C>G (p.Ser137Cys) | |
| 17 | g.41769527G>T | CA399505277 | JUP | c.359C>A (p.Ser120Tyr) c.410C>A (p.Ser137Tyr) | |
| 17 | g.41769528A>C | CA399505280 | JUP | c.358T>G (p.Ser120Ala) c.409T>G (p.Ser137Ala) | |
| 17 | g.41769528A>G | CA399505283 | JUP | c.358T>C (p.Ser120Pro) c.409T>C (p.Ser137Pro) | |
| 17 | g.41769528A>T | CA399505285 | JUP | c.358T>A (p.Ser120Thr) c.409T>A (p.Ser137Thr) | |
| 17 | g.41769529C>A | CA500207655 | JUP | c.357G>T (p.Pro119=) c.408G>T (p.Pro136=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769529C= | CA2260176187 | JUP | c.357G= (p.Pro119=) c.408G= (p.Pro136=) | |
| 17 | g.41769529C>G | CA500207656 | JUP | c.357G>C (p.Pro119=) c.408G>C (p.Pro136=) | |
| 17 | g.41769529C>T | CA8565515 | JUP | c.357G>A (p.Pro119=) c.408G>A (p.Pro136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769530G>A | CA176409 | JUP | c.356C>T (p.Pro119Leu) c.407C>T (p.Pro136Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769530G>C | CA399505288 | JUP | c.356C>G (p.Pro119Arg) c.407C>G (p.Pro136Arg) | |
| 17 | g.41769530G= | CA2260176188 | JUP | c.356C= (p.Pro119=) c.407C= (p.Pro136=) | |
| 17 | g.41769530G>T | CA399505290 | JUP | c.356C>A (p.Pro119Gln) c.407C>A (p.Pro136Gln) | |
| 17 | g.41769531G>A | CA399505293 | JUP | c.355C>T (p.Pro119Ser) c.406C>T (p.Pro136Ser) | dbSNP gnomAD v4 |
| 17 | g.41769531G>C | CA399505298 | JUP | c.355C>G (p.Pro119Ala) c.406C>G (p.Pro136Ala) | |
| 17 | g.41769531G= | CA2260176189 | JUP | c.355C= (p.Pro119=) c.406C= (p.Pro136=) | |
| 17 | g.41769531G>T | CA399505300 | JUP | c.355C>A (p.Pro119Thr) c.406C>A (p.Pro136Thr) | |
| 17 | g.41769532C>A | CA399505301 | JUP | c.354G>T (p.Glu118Asp) c.405G>T (p.Glu135Asp) | dbSNP |
| 17 | g.41769532C= | CA2260176190 | JUP | c.354G= (p.Glu118=) c.405G= (p.Glu135=) | |
| 17 | g.41769532C>G | CA399505304 | JUP | c.354G>C (p.Glu118Asp) c.405G>C (p.Glu135Asp) | |
| 17 | g.41769532C>T | CA500207657 | JUP | c.354G>A (p.Glu118=) c.405G>A (p.Glu135=) | |
| 17 | g.41769533T>A | CA399505308 | JUP | c.353A>T (p.Glu118Val) c.404A>T (p.Glu135Val) | |
| 17 | g.41769533T>C | CA399505309 | JUP | c.353A>G (p.Glu118Gly) c.404A>G (p.Glu135Gly) | |
| 17 | g.41769533T>G | CA399505310 | JUP | c.353A>C (p.Glu118Ala) c.404A>C (p.Glu135Ala) | |
| 17 | g.41769534C>A | CA399505312 | JUP | c.352G>T (p.Glu118Ter) c.403G>T (p.Glu135Ter) | gnomAD v4 |
| 17 | g.41769534C= | CA2260176191 | JUP | c.352G= (p.Glu118=) c.403G= (p.Glu135=) | |
| 17 | g.41769534C>G | CA399505314 | JUP | c.352G>C (p.Glu118Gln) c.403G>C (p.Glu135Gln) | gnomAD v4 |
| 17 | g.41769534C>T | CA237235 | JUP | c.352G>A (p.Glu118Lys) c.403G>A (p.Glu135Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769535G>A | CA137203 | JUP | c.351C>T (p.Ala117=) c.402C>T (p.Ala134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769535G>C | CA500207658 | JUP | c.351C>G (p.Ala117=) c.402C>G (p.Ala134=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769535G= | CA2260176192 | JUP | c.351C= (p.Ala117=) c.402C= (p.Ala134=) | |
| 17 | g.41769535G>T | CA8565516 | JUP | c.351C>A (p.Ala117=) c.402C>A (p.Ala134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769536G>A | CA399505322 | JUP | c.350C>T (p.Ala117Val) c.401C>T (p.Ala134Val) | gnomAD v4 |
| 17 | g.41769536G>C | CA399505323 | JUP | c.350C>G (p.Ala117Gly) c.401C>G (p.Ala134Gly) | |
| 17 | g.41769536G>T | CA399505326 | JUP | c.350C>A (p.Ala117Asp) c.401C>A (p.Ala134Asp) | |
| 17 | g.41769537C>A | CA399505329 | JUP | c.349G>T (p.Ala117Ser) c.400G>T (p.Ala134Ser) | |
| 17 | g.41769537C>G | CA399505332 | JUP | c.349G>C (p.Ala117Pro) c.400G>C (p.Ala134Pro) | |
| 17 | g.41769537C>T | CA399505336 | JUP | c.349G>A (p.Ala117Thr) c.400G>A (p.Ala134Thr) | gnomAD v4 |
| 17 | g.41769538C>A | CA500207659 | JUP | c.348G>T (p.Leu116=) c.399G>T (p.Leu133=) | |
| 17 | g.41769538C>G | CA500207660 | JUP | c.348G>C (p.Leu116=) c.399G>C (p.Leu133=) | |
| 17 | g.41769538C>T | CA500207661 | JUP | c.348G>A (p.Leu116=) c.399G>A (p.Leu133=) | |
| 17 | g.41769539A>C | CA399505339 | JUP | c.347T>G (p.Leu116Arg) c.398T>G (p.Leu133Arg) | |
| 17 | g.41769539A>G | CA399505342 | JUP | c.347T>C (p.Leu116Pro) c.398T>C (p.Leu133Pro) | |
| 17 | g.41769539A>T | CA399505344 | JUP | c.347T>A (p.Leu116Gln) c.398T>A (p.Leu133Gln) | |
| 17 | g.41769540G>A | CA8565517 | JUP | c.346C>T (p.Leu116=) c.397C>T (p.Leu133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769540G>C | CA399505349 | JUP | c.346C>G (p.Leu116Val) c.397C>G (p.Leu133Val) | |
| 17 | g.41769540G= | CA2260176193 | JUP | c.346C= (p.Leu116=) c.397C= (p.Leu133=) | |
| 17 | g.41769540G>T | CA290700886 | JUP | c.346C>A (p.Leu116Met) c.397C>A (p.Leu133Met) | dbSNP gnomAD v2 |
| 17 | g.41769541T>A | CA500207662 | JUP | c.345A>T (p.Arg115=) c.396A>T (p.Arg132=) | gnomAD v4 |
| 17 | g.41769541T>C | CA500207663 | JUP | c.345A>G (p.Arg115=) c.396A>G (p.Arg132=) | |
| 17 | g.41769541T>G | CA500207664 | JUP | c.345A>C (p.Arg115=) c.396A>C (p.Arg132=) | |
| 17 | g.41769542C>A | CA399505357 | JUP | c.344G>T (p.Arg115Leu) c.395G>T (p.Arg132Leu) | |
| 17 | g.41769542C= | CA2260176194 | JUP | c.344G= (p.Arg115=) c.395G= (p.Arg132=) | |
| 17 | g.41769542C>G | CA399505354 | JUP | c.344G>C (p.Arg115Pro) c.395G>C (p.Arg132Pro) | |
| 17 | g.41769542C>T | CA8565518 | JUP | c.344G>A (p.Arg115Gln) c.395G>A (p.Arg132Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769543G>A | CA8565519 | JUP | c.343C>T (p.Arg115Ter) c.394C>T (p.Arg132Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769543G>C | CA399505360 | JUP | c.343C>G (p.Arg115Gly) c.394C>G (p.Arg132Gly) | |
| 17 | g.41769543G= | CA2260176195 | JUP | c.343C= (p.Arg115=) c.394C= (p.Arg132=) | |
| 17 | g.41769543G>T | CA500207665 | JUP | c.343C>A (p.Arg115=) c.394C>A (p.Arg132=) | |
| 17 | g.41769544C>A | CA399505363 | JUP | c.342G>T (p.Gln114His) c.393G>T (p.Gln131His) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769544C= | CA2260176196 | JUP | c.342G= (p.Gln114=) c.393G= (p.Gln131=) | |
| 17 | g.41769544C>G | CA399505364 | JUP | c.342G>C (p.Gln114His) c.393G>C (p.Gln131His) | |
| 17 | g.41769544C>T | CA500207666 | JUP | c.342G>A (p.Gln114=) c.393G>A (p.Gln131=) | |
| 17 | g.41769545T>A | CA399505366 | JUP | c.341A>T (p.Gln114Leu) c.392A>T (p.Gln131Leu) | |
| 17 | g.41769545T>C | CA399505369 | JUP | c.341A>G (p.Gln114Arg) c.392A>G (p.Gln131Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769545T>G | CA399505372 | JUP | c.341A>C (p.Gln114Pro) c.392A>C (p.Gln131Pro) | |
| 17 | g.41769545T= | CA2260176197 | JUP | c.341A= (p.Gln114=) c.392A= (p.Gln131=) | |
| 17 | g.41769546G>A | CA8565520 | JUP | c.340C>T (p.Gln114Ter) c.391C>T (p.Gln131Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41769546G>C | CA399505374 | JUP | c.340C>G (p.Gln114Glu) c.391C>G (p.Gln131Glu) | |
| 17 | g.41769546G= | CA2260176198 | JUP | c.340C= (p.Gln114=) c.391C= (p.Gln131=) | |
| 17 | g.41769546G>T | CA399505382 | JUP | c.340C>A (p.Gln114Lys) c.391C>A (p.Gln131Lys) | |
| 17 | g.41769547C>A | CA500207667 | JUP | c.339G>T (p.Leu113=) c.390G>T (p.Leu130=) | |
| 17 | g.41769547C>G | CA500207668 | JUP | c.339G>C (p.Leu113=) c.390G>C (p.Leu130=) | |
| 17 | g.41769547C>T | CA500207669 | JUP | c.339G>A (p.Leu113=) c.390G>A (p.Leu130=) | |
| 17 | g.41769548A>C | CA399505385 | JUP | c.338T>G (p.Leu113Arg) c.389T>G (p.Leu130Arg) | |
| 17 | g.41769548A>G | CA399505387 | JUP | c.338T>C (p.Leu113Pro) c.389T>C (p.Leu130Pro) | |
| 17 | g.41769548A>T | CA399505388 | JUP | c.338T>A (p.Leu113Gln) c.389T>A (p.Leu130Gln) | |
| 17 | g.41769549G>A | CA500207670 | JUP | c.337C>T (p.Leu113=) c.388C>T (p.Leu130=) | ClinVar |
| 17 | g.41769549G>C | CA399505392 | JUP | c.337C>G (p.Leu113Val) c.388C>G (p.Leu130Val) | |
| 17 | g.41769549G>T | CA399505393 | JUP | c.337C>A (p.Leu113Met) c.388C>A (p.Leu130Met) | COSMIC |
| 17 | g.41769550G>A | CA500207671 | JUP | c.336C>T (p.Asn112=) c.387C>T (p.Asn129=) | |
| 17 | g.41769550G>C | CA399505395 | JUP | c.336C>G (p.Asn112Lys) c.387C>G (p.Asn129Lys) | |
| 17 | g.41769550G= | CA2260176199 | JUP | c.336C= (p.Asn112=) c.387C= (p.Asn129=) | |
| 17 | g.41769550G>T | CA399505396 | JUP | c.336C>A (p.Asn112Lys) c.387C>A (p.Asn129Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769551T>A | CA399505398 | JUP | c.335A>T (p.Asn112Ile) c.386A>T (p.Asn129Ile) | |
| 17 | g.41769551T>C | CA237240 | JUP | c.335A>G (p.Asn112Ser) c.386A>G (p.Asn129Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769551T>G | CA399505404 | JUP | c.335A>C (p.Asn112Thr) c.386A>C (p.Asn129Thr) | dbSNP |
| 17 | g.41769551T= | CA2260176200 | JUP | c.335A= (p.Asn112=) c.386A= (p.Asn129=) | |
| 17 | g.41769552T>A | CA399505405 | JUP | c.334A>T (p.Asn112Tyr) c.385A>T (p.Asn129Tyr) | |
| 17 | g.41769552T>C | CA399505409 | JUP | c.334A>G (p.Asn112Asp) c.385A>G (p.Asn129Asp) | gnomAD v4 |
| 17 | g.41769552T>G | CA399505410 | JUP | c.334A>C (p.Asn112His) c.385A>C (p.Asn129His) | |
| 17 | g.41769553G>A | CA500207672 | JUP | c.333C>T (p.Thr111=) c.384C>T (p.Thr128=) | |
| 17 | g.41769553G>C | CA500207673 | JUP | c.333C>G (p.Thr111=) c.384C>G (p.Thr128=) | |
| 17 | g.41769553G>T | CA500207674 | JUP | c.333C>A (p.Thr111=) c.384C>A (p.Thr128=) | |
| 17 | g.41769554G>A | CA8565521 | JUP | c.332C>T (p.Thr111Ile) c.383C>T (p.Thr128Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769554G>C | CA399505411 | JUP | c.332C>G (p.Thr111Ser) c.383C>G (p.Thr128Ser) | gnomAD v4 |
| 17 | g.41769554G= | CA2260176201 | JUP | c.332C= (p.Thr111=) c.383C= (p.Thr128=) | |
| 17 | g.41769554G>T | CA399505412 | JUP | c.332C>A (p.Thr111Asn) c.383C>A (p.Thr128Asn) | |
| 17 | g.41769555T>A | CA399505413 | JUP | c.331A>T (p.Thr111Ser) c.382A>T (p.Thr128Ser) | |
| 17 | g.41769555T>C | CA399505415 | JUP | c.331A>G (p.Thr111Ala) c.382A>G (p.Thr128Ala) | gnomAD v4 |
| 17 | g.41769555T>G | CA399505416 | JUP | c.331A>C (p.Thr111Pro) c.382A>C (p.Thr128Pro) | |
| 17 | g.41769556G>A | CA500207675 | JUP | c.330C>T (p.Ala110=) c.381C>T (p.Ala127=) | ClinVar gnomAD v4 |
| 17 | g.41769556G>C | CA500207677 | JUP | c.330C>G (p.Ala110=) c.381C>G (p.Ala127=) | |
| 17 | g.41769556G>T | CA500207676 | JUP | c.330C>A (p.Ala110=) c.381C>A (p.Ala127=) | |
| 17 | g.41769557G>A | CA8565522 | JUP | c.329C>T (p.Ala110Val) c.380C>T (p.Ala127Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769557G>C | CA399505420 | JUP | c.329C>G (p.Ala110Gly) c.380C>G (p.Ala127Gly) | |
| 17 | g.41769557G= | CA2260176202 | JUP | c.329C= (p.Ala110=) c.380C= (p.Ala127=) | |
| 17 | g.41769557G>T | CA399505418 | JUP | c.329C>A (p.Ala110Asp) c.380C>A (p.Ala127Asp) | gnomAD v4 |
| 17 | g.41769558C>A | CA399505428 | JUP | c.328G>T (p.Ala110Ser) c.379G>T (p.Ala127Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769558C= | CA2260176203 | JUP | c.328G= (p.Ala110=) c.379G= (p.Ala127=) | |
| 17 | g.41769558C>G | CA399505425 | JUP | c.328G>C (p.Ala110Pro) c.379G>C (p.Ala127Pro) | |
| 17 | g.41769558C>T | CA399505426 | JUP | c.328G>A (p.Ala110Thr) c.379G>A (p.Ala127Thr) | ClinVar dbSNP |
| 17 | g.41769559C>A | CA399505431 | JUP | c.327G>T (p.Gln109His) c.378G>T (p.Gln126His) | |
| 17 | g.41769559C>G | CA399505433 | JUP | c.327G>C (p.Gln109His) c.378G>C (p.Gln126His) | |
| 17 | g.41769559C>T | CA500207678 | JUP | c.327G>A (p.Gln109=) c.378G>A (p.Gln126=) | |
| 17 | g.41769560T>A | CA399505439 | JUP | c.326A>T (p.Gln109Leu) c.377A>T (p.Gln126Leu) | |
| 17 | g.41769560T>C | CA399505441 | JUP | c.326A>G (p.Gln109Arg) c.377A>G (p.Gln126Arg) | gnomAD v4 |
| 17 | g.41769560T>G | CA399505444 | JUP | c.326A>C (p.Gln109Pro) c.377A>C (p.Gln126Pro) | |
| 17 | g.41769561G>A | CA399505446 | JUP | c.325C>T (p.Gln109Ter) c.376C>T (p.Gln126Ter) | |
| 17 | g.41769561G>C | CA399505451 | JUP | c.325C>G (p.Gln109Glu) c.376C>G (p.Gln126Glu) | |
| 17 | g.41769561G>T | CA399505459 | JUP | c.325C>A (p.Gln109Lys) c.376C>A (p.Gln126Lys) | gnomAD v4 |
| 17 | g.41769561_41769562insACTTTGGATTATTCTAAAAACCGTATCAACGACGAAACCATGGCACTGTTGTTCGAGCTGGCGCGTGAAGCAGGCGTTCCGGAGCGGATGCAGCAAATGTTCCACGGCGAAAAAATCAATACGACAGAAAA | CA2558520175 | JUP | c.324_325insTTTTCTGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGAACGCCTGCTTCACGCGCCAGCTCGAACAACAGTGCCATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln109PhefsTer41) c.375_376insTTTTCTGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGAACGCCTGCTTCACGCGCCAGCTCGAACAACAGTGCCATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln126PhefsTer41) | |
| 17 | g.41769561_41769562insACTTTGGATTATTCTAAAAACCGTATCAACGACGAAACCATGTCGCTTTTGTTCGAGTTGGCGCGTGAAGCAGGCGTGCCGGAGCGGATGCAGCAAATGTTCCATGGCGAAAAAATCAATACGACAGAAAA | CA2568339483 | JUP | c.324_325insTTTTCTGTCGTATTGATTTTTTCGCCATGGAACATTTGCTGCATCCGCTCCGGCACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln109PhefsTer41) c.375_376insTTTTCTGTCGTATTGATTTTTTCGCCATGGAACATTTGCTGCATCCGCTCCGGCACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln126PhefsTer41) | |
| 17 | g.41769561_41769562insACTTTGGATTATTCTAAAAACCGTATCAACGACGAAACCATGTCGCTTTTGTTCGAGTTGGCGCGTGAAGCAGGCGTACCGGAGCGGATGCAGCAAATGTTCCACGGCGAAAAAATCAATACGACGGAAAA | CA2504621873 | JUP | c.324_325insTTTTCCGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGTACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln109PhefsTer41) c.375_376insTTTTCCGTCGTATTGATTTTTTCGCCGTGGAACATTTGCTGCATCCGCTCCGGTACGCCTGCTTCACGCGCCAACTCGAACAAAAGCGACATGGTTTCGTCGTTGATACGGTTTTTAGAATAATCCAAAGT (p.Gln126PhefsTer41) | |
| 17 | g.41769562C>A | CA500207679 | JUP | c.324G>T (p.Gly108=) c.375G>T (p.Gly125=) | |
| 17 | g.41769562C= | CA2260176204 | JUP | c.324G= (p.Gly108=) c.375G= (p.Gly125=) | |
| 17 | g.41769562C>G | CA500207680 | JUP | c.324G>C (p.Gly108=) c.375G>C (p.Gly125=) | |
| 17 | g.41769562C>T | CA500207681 | JUP | c.324G>A (p.Gly108=) c.375G>A (p.Gly125=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769565dup | CA645574073 | JUP | c.324dup (p.Gln109AlafsTer?) c.375dup (p.Gln126AlafsTer?) | COSMIC |
| 17 | g.41769565del | CA645574072 | JUP | c.324del (p.Gln109ArgfsTer?) c.375del (p.Gln126ArgfsTer?) | COSMIC |
| 17 | g.41769563C>A | CA399505462 | JUP | c.323G>T (p.Gly108Val) c.374G>T (p.Gly125Val) | |
| 17 | g.41769563C>G | CA399505464 | JUP | c.323G>C (p.Gly108Ala) c.374G>C (p.Gly125Ala) | |
| 17 | g.41769563C>T | CA399505466 | JUP | c.323G>A (p.Gly108Glu) c.374G>A (p.Gly125Glu) | |
| 17 | g.41769564C>A | CA399505475 | JUP | c.322G>T (p.Gly108Trp) c.373G>T (p.Gly125Trp) | |
| 17 | g.41769564C>G | CA399505469 | JUP | c.322G>C (p.Gly108Arg) c.373G>C (p.Gly125Arg) | |
| 17 | g.41769564C>T | CA399505472 | JUP | c.322G>A (p.Gly108Arg) c.373G>A (p.Gly125Arg) | gnomAD v4 |
| 17 | g.41769565C>A | CA399505478 | JUP | c.321G>T (p.Glu107Asp) c.372G>T (p.Glu124Asp) | gnomAD v4 |
| 17 | g.41769565C= | CA2260176205 | JUP | c.321G= (p.Glu107=) c.372G= (p.Glu124=) | |
| 17 | g.41769565C>G | CA399505480 | JUP | c.321G>C (p.Glu107Asp) c.372G>C (p.Glu124Asp) | COSMIC |
| 17 | g.41769565C>T | CA8565523 | JUP | c.321G>A (p.Glu107=) c.372G>A (p.Glu124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769566T>A | CA399505490 | JUP | c.320A>T (p.Glu107Val) c.371A>T (p.Glu124Val) | |
| 17 | g.41769566T>C | CA399505492 | JUP | c.320A>G (p.Glu107Gly) c.371A>G (p.Glu124Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769566T>G | CA399505493 | JUP | c.320A>C (p.Glu107Ala) c.371A>C (p.Glu124Ala) | |
| 17 | g.41769566T= | CA2260176206 | JUP | c.320A= (p.Glu107=) c.371A= (p.Glu124=) | |
| 17 | g.41769567C>A | CA399505495 | JUP | c.319G>T (p.Glu107Ter) c.370G>T (p.Glu124Ter) | gnomAD v4 |
| 17 | g.41769567C= | CA2260176207 | JUP | c.319G= (p.Glu107=) c.370G= (p.Glu124=) | |
| 17 | g.41769567C>G | CA399505497 | JUP | c.319G>C (p.Glu107Gln) c.370G>C (p.Glu124Gln) | |
| 17 | g.41769567C>T | CA399505499 | JUP | c.319G>A (p.Glu107Lys) c.370G>A (p.Glu124Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41769568C>A | CA500207693 | JUP | c.318G>T (p.Val106=) c.369G>T (p.Val123=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769568C= | CA2260176208 | JUP | c.318G= (p.Val106=) c.369G= (p.Val123=) | |
| 17 | g.41769568C>G | CA500207694 | JUP | c.318G>C (p.Val106=) c.369G>C (p.Val123=) | |
| 17 | g.41769568C>T | CA500207695 | JUP | c.318G>A (p.Val106=) c.369G>A (p.Val123=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769569A= | CA2260176209 | JUP | c.317T= (p.Val106=) c.368T= (p.Val123=) | |
| 17 | g.41769569A>C | CA399505504 | JUP | c.317T>G (p.Val106Gly) c.368T>G (p.Val123Gly) | dbSNP gnomAD v4 |
| 17 | g.41769569A>G | CA399505506 | JUP | c.317T>C (p.Val106Ala) c.368T>C (p.Val123Ala) | |
| 17 | g.41769569A>T | CA399505507 | JUP | c.317T>A (p.Val106Glu) c.368T>A (p.Val123Glu) | |
| 17 | g.41769570C>A | CA399505510 | JUP | c.316G>T (p.Val106Leu) c.367G>T (p.Val123Leu) | dbSNP gnomAD v4 |
| 17 | g.41769570C= | CA2260176210 | JUP | c.316G= (p.Val106=) c.367G= (p.Val123=) | |
| 17 | g.41769570C>G | CA399505512 | JUP | c.316G>C (p.Val106Leu) c.367G>C (p.Val123Leu) | gnomAD v4 |
| 17 | g.41769570C>T | CA399505508 | JUP | c.316G>A (p.Val106Met) c.367G>A (p.Val123Met) | |
| 17 | g.41769571C>A | CA399505513 | JUP | c.315G>T (p.Gln105His) c.366G>T (p.Gln122His) | ClinVar |
| 17 | g.41769571C= | CA2260176211 | JUP | c.315G= (p.Gln105=) c.366G= (p.Gln122=) | |
| 17 | g.41769571C>G | CA290700901 | JUP | c.315G>C (p.Gln105His) c.366G>C (p.Gln122His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769571C>T | CA500207697 | JUP | c.315G>A (p.Gln105=) c.366G>A (p.Gln122=) | ClinVar dbSNP |
| 17 | g.41769572T>A | CA399505516 | JUP | c.314A>T (p.Gln105Leu) c.365A>T (p.Gln122Leu) | |
| 17 | g.41769572T>C | CA399505518 | JUP | c.314A>G (p.Gln105Arg) c.365A>G (p.Gln122Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769572T>G | CA399505520 | JUP | c.314A>C (p.Gln105Pro) c.365A>C (p.Gln122Pro) | |
| 17 | g.41769572T= | CA2260176212 | JUP | c.314A= (p.Gln105=) c.365A= (p.Gln122=) | |
| 17 | g.41769573G>A | CA399505522 | JUP | c.313C>T (p.Gln105Ter) c.364C>T (p.Gln122Ter) | |
| 17 | g.41769573G>C | CA399505523 | JUP | c.313C>G (p.Gln105Glu) c.364C>G (p.Gln122Glu) | |
| 17 | g.41769573G>T | CA399505524 | JUP | c.313C>A (p.Gln105Lys) c.364C>A (p.Gln122Lys) | |
| 17 | g.41769574G>A | CA500207701 | JUP | c.312C>T (p.Thr104=) c.363C>T (p.Thr121=) | |
| 17 | g.41769574G>C | CA500207702 | JUP | c.312C>G (p.Thr104=) c.363C>G (p.Thr121=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41769574G>T | CA500207703 | JUP | c.312C>A (p.Thr104=) c.363C>A (p.Thr121=) | |
| 17 | g.41769575G>A | CA399505527 | JUP | c.311C>T (p.Thr104Ile) c.362C>T (p.Thr121Ile) | |
| 17 | g.41769575G>C | CA399505528 | JUP | c.311C>G (p.Thr104Ser) c.362C>G (p.Thr121Ser) | ClinVar |
| 17 | g.41769575G= | CA2260176213 | JUP | c.311C= (p.Thr104=) c.362C= (p.Thr121=) | |
| 17 | g.41769575G>T | CA399505530 | JUP | c.311C>A (p.Thr104Asn) c.362C>A (p.Thr121Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769576T>A | CA399505532 | JUP | c.310A>T (p.Thr104Ser) c.361A>T (p.Thr121Ser) | |
| 17 | g.41769576T>C | CA399505534 | JUP | c.310A>G (p.Thr104Ala) c.361A>G (p.Thr121Ala) | |
| 17 | g.41769576T>G | CA399505535 | JUP | c.310A>C (p.Thr104Pro) c.361A>C (p.Thr121Pro) | dbSNP |
| 17 | g.41769576T= | CA2260176214 | JUP | c.310A= (p.Thr104=) c.361A= (p.Thr121=) | |
| 17 | g.41769577G>A | CA500207705 | JUP | c.309C>T (p.Ala103=) c.360C>T (p.Ala120=) | gnomAD v4 |
| 17 | g.41769577G>C | CA500207706 | JUP | c.309C>G (p.Ala103=) c.360C>G (p.Ala120=) | |
| 17 | g.41769577G>T | CA500207707 | JUP | c.309C>A (p.Ala103=) c.360C>A (p.Ala120=) | gnomAD v4 |
| 17 | g.41769578G>A | CA399505541 | JUP | c.308C>T (p.Ala103Val) c.359C>T (p.Ala120Val) | |
| 17 | g.41769578G>C | CA399505537 | JUP | c.308C>G (p.Ala103Gly) c.359C>G (p.Ala120Gly) | ClinVar dbSNP |
| 17 | g.41769578G>T | CA399505538 | JUP | c.308C>A (p.Ala103Asp) c.359C>A (p.Ala120Asp) | gnomAD v4 |
| 17 | g.41769579C>A | CA399505543 | JUP | c.307G>T (p.Ala103Ser) c.358G>T (p.Ala120Ser) | |
| 17 | g.41769579C>G | CA399505545 | JUP | c.307G>C (p.Ala103Pro) c.358G>C (p.Ala120Pro) | |
| 17 | g.41769579C>T | CA399505551 | JUP | c.307G>A (p.Ala103Thr) c.358G>A (p.Ala120Thr) | |
| 17 | g.41769580C>A | CA500207710 | JUP | c.306G>T (p.Leu102=) c.357G>T (p.Leu119=) | |
| 17 | g.41769580C>G | CA500207712 | JUP | c.306G>C (p.Leu102=) c.357G>C (p.Leu119=) | |
| 17 | g.41769580C>T | CA500207711 | JUP | c.306G>A (p.Leu102=) c.357G>A (p.Leu119=) | |
| 17 | g.41769581A>C | CA399505553 | JUP | c.305T>G (p.Leu102Arg) c.356T>G (p.Leu119Arg) | |
| 17 | g.41769581A>G | CA399505556 | JUP | c.305T>C (p.Leu102Pro) c.356T>C (p.Leu119Pro) | |
| 17 | g.41769581A>T | CA399505558 | JUP | c.305T>A (p.Leu102Gln) c.356T>A (p.Leu119Gln) | |
| 17 | g.41769582G>A | CA500207718 | JUP | c.304C>T (p.Leu102=) c.355C>T (p.Leu119=) | |
| 17 | g.41769582G>C | CA399505559 | JUP | c.304C>G (p.Leu102Val) c.355C>G (p.Leu119Val) | |
| 17 | g.41769582G>T | CA399505560 | JUP | c.304C>A (p.Leu102Met) c.355C>A (p.Leu119Met) | |
| 17 | g.41769583C>A | CA500207726 | JUP | c.303G>T (p.Leu101=) c.354G>T (p.Leu118=) | |
| 17 | g.41769583C>G | CA500207721 | JUP | c.303G>C (p.Leu101=) c.354G>C (p.Leu118=) | |
| 17 | g.41769583C>T | CA500207723 | JUP | c.303G>A (p.Leu101=) c.354G>A (p.Leu118=) | |
| 17 | g.41769583_41769586delinsCAGA | CA2260176215 | JUP | c.300_303delinsTCTG (p.Leu100=) c.351_354delinsTCTG (p.Leu117=) | |
| 17 | g.41769584A>C | CA399505568 | JUP | c.302T>G (p.Leu101Arg) c.353T>G (p.Leu118Arg) | |
| 17 | g.41769584A>G | CA399505570 | JUP | c.302T>C (p.Leu101Pro) c.353T>C (p.Leu118Pro) | |
| 17 | g.41769584A>T | CA399505572 | JUP | c.302T>A (p.Leu101Gln) c.353T>A (p.Leu118Gln) | |
| 17 | g.41769586_41769588del | CA2260176216 | JUP | c.300_302del (p.Leu101del) c.351_353del (p.Leu118del) | dbSNP |
| 17 | g.41769585G>A | CA500207728 | JUP | c.301C>T (p.Leu101=) c.352C>T (p.Leu118=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41769585G>C | CA399505579 | JUP | c.301C>G (p.Leu101Val) c.352C>G (p.Leu118Val) | |
| 17 | g.41769585G= | CA2260176217 | JUP | c.301C= (p.Leu101=) c.352C= (p.Leu118=) | |
| 17 | g.41769585G>T | CA399505577 | JUP | c.301C>A (p.Leu101Met) c.352C>A (p.Leu118Met) | |
| 17 | g.41769586A>C | CA500207732 | JUP | c.300T>G (p.Leu100=) c.351T>G (p.Leu117=) | |
| 17 | g.41769586A>G | CA500207734 | JUP | c.300T>C (p.Leu100=) c.351T>C (p.Leu117=) | |
| 17 | g.41769586A>T | CA500207735 | JUP | c.300T>A (p.Leu100=) c.351T>A (p.Leu117=) | |
| 17 | g.41769587A>C | CA399505580 | JUP | c.299T>G (p.Leu100Arg) c.350T>G (p.Leu117Arg) | |
| 17 | g.41769587A>G | CA399505582 | JUP | c.299T>C (p.Leu100Pro) c.350T>C (p.Leu117Pro) | gnomAD v4 |
| 17 | g.41769587A>T | CA399505584 | JUP | c.299T>A (p.Leu100His) c.350T>A (p.Leu117His) | |
| 17 | g.41769588G>A | CA399505585 | JUP | c.298C>T (p.Leu100Phe) c.349C>T (p.Leu117Phe) | ClinVar dbSNP |
| 17 | g.41769588G>C | CA399505586 | JUP | c.298C>G (p.Leu100Val) c.349C>G (p.Leu117Val) | |
| 17 | g.41769588G= | CA2260176218 | JUP | c.298C= (p.Leu100=) c.349C= (p.Leu117=) | |
| 17 | g.41769588G>T | CA399505588 | JUP | c.298C>A (p.Leu100Ile) c.349C>A (p.Leu117Ile) | |
| 17 | g.41769589C>A | CA500207739 | JUP | c.297G>T (p.Ser99=) c.348G>T (p.Ser116=) | |
| 17 | g.41769589C= | CA2260176219 | JUP | c.297G= (p.Ser99=) c.348G= (p.Ser116=) | |
| 17 | g.41769589C>G | CA500207740 | JUP | c.297G>C (p.Ser99=) c.348G>C (p.Ser116=) | gnomAD v4 |
| 17 | g.41769589C>T | CA137198 | JUP | c.297G>A (p.Ser99=) c.348G>A (p.Ser116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769590G>A | CA8565524 | JUP | c.296C>T (p.Ser99Leu) c.347C>T (p.Ser116Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41769590G>C | CA399505593 | JUP | c.296C>G (p.Ser99Trp) c.347C>G (p.Ser116Trp) | |
| 17 | g.41769590G= | CA2260176220 | JUP | c.296C= (p.Ser99=) c.347C= (p.Ser116=) | |
| 17 | g.41769590G>T | CA399505596 | JUP | c.296C>A (p.Ser99Ter) c.347C>A (p.Ser116Ter) |