UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17401362_17401363del | CA16042252 | PADI6 | c.2009_2010del (p.Glu670GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.17401362A>C | CA338269231 | PADI6 | c.2009A>C (p.Glu670Ala) | |
| 1 | g.17401362A>G | CA338269235 | PADI6 | c.2009A>G (p.Glu670Gly) | gnomAD v4 |
| 1 | g.17401362A>T | CA338269237 | PADI6 | c.2009A>T (p.Glu670Val) | |
| 1 | g.17401363G>A | CA416408150 | PADI6 | c.2010G>A (p.Glu670=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401363G>C | CA338269238 | PADI6 | c.2010G>C (p.Glu670Asp) | |
| 1 | g.17401363G= | CA1156231169 | PADI6 | c.2010G= (p.Glu670=) | |
| 1 | g.17401363G>T | CA338269240 | PADI6 | c.2010G>T (p.Glu670Asp) | |
| 1 | g.17401364G>A | CA641992 | PADI6 | c.2011G>A (p.Val671Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401364G>C | CA338269243 | PADI6 | c.2011G>C (p.Val671Leu) | |
| 1 | g.17401364G= | CA1141090125 | PADI6 | c.2011G= (p.Val671=) | |
| 1 | g.17401364G>T | CA338269247 | PADI6 | c.2011G>T (p.Val671Phe) | gnomAD v4 |
| 1 | g.17401365T>A | CA338269255 | PADI6 | c.2012T>A (p.Val671Asp) | |
| 1 | g.17401365T>C | CA338269253 | PADI6 | c.2012T>C (p.Val671Ala) | |
| 1 | g.17401365T>G | CA338269249 | PADI6 | c.2012T>G (p.Val671Gly) | |
| 1 | g.17401366C>A | CA416408154 | PADI6 | c.2013C>A (p.Val671=) | |
| 1 | g.17401366C= | CA1156231180 | PADI6 | c.2013C= (p.Val671=) | |
| 1 | g.17401366C>G | CA416408155 | PADI6 | c.2013C>G (p.Val671=) | |
| 1 | g.17401366C>T | CA641994 | PADI6 | c.2013C>T (p.Val671=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17401366_17401368delinsCGG | CA1156231177 | PADI6 | c.2013_2015delinsCGG (p.Val671=) | |
| 1 | g.17401367G>A | CA641995 | PADI6 | c.2014G>A (p.Gly672Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401367G>C | CA338269258 | PADI6 | c.2014G>C (p.Gly672Arg) | |
| 1 | g.17401367G= | CA1156231185 | PADI6 | c.2014G= (p.Gly672=) | |
| 1 | g.17401367G>T | CA338269261 | PADI6 | c.2014G>T (p.Gly672Ter) | |
| 1 | g.17401367_17401368del | CA641993 | PADI6 | c.2014_2015del (p.Gly672ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401367_17401368delinsGG | CA1148901309 | PADI6 | c.2014_2015delinsGG (p.Gly672=) | |
| 1 | g.17401368dup | CA2643706683 | PADI6 | c.2015dup (p.Asp673ArgfsTer?) | gnomAD v4 |
| 1 | g.17401368G>A | CA338269263 | PADI6 | c.2015G>A (p.Gly672Glu) | COSMIC |
| 1 | g.17401368G>C | CA338269265 | PADI6 | c.2015G>C (p.Gly672Ala) | |
| 1 | g.17401368G>T | CA338269267 | PADI6 | c.2015G>T (p.Gly672Val) | |
| 1 | g.17401369A>C | CA416408156 | PADI6 | c.2016A>C (p.Gly672=) | |
| 1 | g.17401369A>G | CA416408157 | PADI6 | c.2016A>G (p.Gly672=) | |
| 1 | g.17401369A>T | CA416408158 | PADI6 | c.2016A>T (p.Gly672=) | |
| 1 | g.17401370G>A | CA338269269 | PADI6 | c.2017G>A (p.Asp673Asn) | |
| 1 | g.17401370G>C | CA338269270 | PADI6 | c.2017G>C (p.Asp673His) | |
| 1 | g.17401370G>T | CA338269272 | PADI6 | c.2017G>T (p.Asp673Tyr) | |
| 1 | g.17401370_17401387dup | CA2643706685 | PADI6 | c.2017_2034dup (p.Ala678_Asn679insAspIleCysAlaCysAla) | gnomAD v4 |
| 1 | g.17401371A= | CA1148564518 | PADI6 | c.2018A= (p.Asp673=) | |
| 1 | g.17401371A>C | CA338269276 | PADI6 | c.2018A>C (p.Asp673Ala) | gnomAD v4 |
| 1 | g.17401371A>G | CA641996 | PADI6 | c.2018A>G (p.Asp673Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401371A>T | CA338269275 | PADI6 | c.2018A>T (p.Asp673Val) | |
| 1 | g.17401372C>A | CA338269278 | PADI6 | c.2019C>A (p.Asp673Glu) | |
| 1 | g.17401372C>G | CA338269280 | PADI6 | c.2019C>G (p.Asp673Glu) | |
| 1 | g.17401372C>T | CA416408159 | PADI6 | c.2019C>T (p.Asp673=) | |
| 1 | g.17401373A= | CA1156231197 | PADI6 | c.2020A= (p.Ile674=) | |
| 1 | g.17401373A>C | CA641997 | PADI6 | c.2020A>C (p.Ile674Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401373A>G | CA338269283 | PADI6 | c.2020A>G (p.Ile674Val) | |
| 1 | g.17401373A>T | CA338269285 | PADI6 | c.2020A>T (p.Ile674Phe) | gnomAD v3 gnomAD v4 |
| 1 | g.17401374T>A | CA338269287 | PADI6 | c.2021T>A (p.Ile674Asn) | |
| 1 | g.17401374T>C | CA338269288 | PADI6 | c.2021T>C (p.Ile674Thr) | gnomAD v4 |
| 1 | g.17401374T>G | CA338269289 | PADI6 | c.2021T>G (p.Ile674Ser) | |
| 1 | g.17401375del | CA2643706689 | PADI6 | c.2022del (p.Cys675ValfsTer?) | gnomAD v4 |
| 1 | g.17401375C>A | CA416408161 | PADI6 | c.2022C>A (p.Ile674=) | |
| 1 | g.17401375C>G | CA338269291 | PADI6 | c.2022C>G (p.Ile674Met) | |
| 1 | g.17401375C>T | CA416408162 | PADI6 | c.2022C>T (p.Ile674=) | |
| 1 | g.17401375_17401377delinsCTG | CA1156231204 | PADI6 | c.2022_2024delinsCTG (p.Ile674=) | |
| 1 | g.17401382_17401387del | CA2643706690 | PADI6 | c.2029_2034del (p.Cys677_Ala678del) | gnomAD v4 |
| 1 | g.17401376T>A | CA338269294 | PADI6 | c.2023T>A (p.Cys675Ser) | |
| 1 | g.17401376T>C | CA338269295 | PADI6 | c.2023T>C (p.Cys675Arg) | COSMIC |
| 1 | g.17401376T>G | CA338269297 | PADI6 | c.2023T>G (p.Cys675Gly) | |
| 1 | g.17401378_17401379del | CA999122406 | PADI6 | c.2025_2026del (p.Ala676LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401377del | CA2643706691 | PADI6 | c.2024del (p.Cys675LeufsTer?) | gnomAD v4 |
| 1 | g.17401377G>A | CA338269300 | PADI6 | c.2024G>A (p.Cys675Tyr) | |
| 1 | g.17401377G>C | CA338269302 | PADI6 | c.2024G>C (p.Cys675Ser) | dbSNP |
| 1 | g.17401377G= | CA1156231211 | PADI6 | c.2024G= (p.Cys675=) | |
| 1 | g.17401377G>T | CA338269298 | PADI6 | c.2024G>T (p.Cys675Phe) | |
| 1 | g.17401378T>A | CA338269303 | PADI6 | c.2025T>A (p.Cys675Ter) | |
| 1 | g.17401378T>C | CA416408164 | PADI6 | c.2025T>C (p.Cys675=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401378T>G | CA338269305 | PADI6 | c.2025T>G (p.Cys675Trp) | gnomAD v4 |
| 1 | g.17401378T= | CA1156231216 | PADI6 | c.2025T= (p.Cys675=) | |
| 1 | g.17401379G>A | CA338269306 | PADI6 | c.2026G>A (p.Ala676Thr) | |
| 1 | g.17401379G>C | CA338269307 | PADI6 | c.2026G>C (p.Ala676Pro) | |
| 1 | g.17401379G>T | CA338269309 | PADI6 | c.2026G>T (p.Ala676Ser) | gnomAD v3 gnomAD v4 |
| 1 | g.17401380C>A | CA338269311 | PADI6 | c.2027C>A (p.Ala676Asp) | |
| 1 | g.17401380C>G | CA338269313 | PADI6 | c.2027C>G (p.Ala676Gly) | |
| 1 | g.17401380C>T | CA338269314 | PADI6 | c.2027C>T (p.Ala676Val) | gnomAD v4 |
| 1 | g.17401381dup | CA2643706692 | PADI6 | c.2028dup (p.Cys677LeufsTer?) | gnomAD v4 |
| 1 | g.17401381C>A | CA416408167 | PADI6 | c.2028C>A (p.Ala676=) | |
| 1 | g.17401381C>G | CA416408165 | PADI6 | c.2028C>G (p.Ala676=) | |
| 1 | g.17401381C>T | CA416408166 | PADI6 | c.2028C>T (p.Ala676=) | |
| 1 | g.17401382T>A | CA338269316 | PADI6 | c.2029T>A (p.Cys677Ser) | |
| 1 | g.17401382T>C | CA338269317 | PADI6 | c.2029T>C (p.Cys677Arg) | |
| 1 | g.17401382T>G | CA338269318 | PADI6 | c.2029T>G (p.Cys677Gly) | dbSNP gnomAD v2 |
| 1 | g.17401382T= | CA1156231221 | PADI6 | c.2029T= (p.Cys677=) | |
| 1 | g.17401383G>A | CA338269319 | PADI6 | c.2030G>A (p.Cys677Tyr) | |
| 1 | g.17401383G>C | CA338269320 | PADI6 | c.2030G>C (p.Cys677Ser) | gnomAD v4 |
| 1 | g.17401383G>T | CA338269321 | PADI6 | c.2030G>T (p.Cys677Phe) | gnomAD v4 |
| 1 | g.17401384T>A | CA338269323 | PADI6 | c.2031T>A (p.Cys677Ter) | |
| 1 | g.17401384T>C | CA416408172 | PADI6 | c.2031T>C (p.Cys677=) | |
| 1 | g.17401384T>G | CA338269325 | PADI6 | c.2031T>G (p.Cys677Trp) | |
| 1 | g.17401385G>A | CA338269327 | PADI6 | c.2032G>A (p.Ala678Thr) | |
| 1 | g.17401385G>C | CA338269328 | PADI6 | c.2032G>C (p.Ala678Pro) | |
| 1 | g.17401385G>T | CA338269329 | PADI6 | c.2032G>T (p.Ala678Ser) | |
| 1 | g.17401386C>A | CA338269331 | PADI6 | c.2033C>A (p.Ala678Asp) | |
| 1 | g.17401386C>G | CA338269333 | PADI6 | c.2033C>G (p.Ala678Gly) | |
| 1 | g.17401386C>T | CA338269335 | PADI6 | c.2033C>T (p.Ala678Val) | gnomAD v4 |
| 1 | g.17401387C>A | CA416408175 | PADI6 | c.2034C>A (p.Ala678=) | |
| 1 | g.17401387C= | CA1156231223 | PADI6 | c.2034C= (p.Ala678=) | |
| 1 | g.17401387C>G | CA416408176 | PADI6 | c.2034C>G (p.Ala678=) | |
| 1 | g.17401387C>T | CA641998 | PADI6 | c.2034C>T (p.Ala678=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401388A>C | CA338269337 | PADI6 | c.2035A>C (p.Asn679His) | |
| 1 | g.17401388A>G | CA338269339 | PADI6 | c.2035A>G (p.Asn679Asp) | |
| 1 | g.17401388A>T | CA338269340 | PADI6 | c.2035A>T (p.Asn679Tyr) | |
| 1 | g.17401389A= | CA1156231228 | PADI6 | c.2036A= (p.Asn679=) | |
| 1 | g.17401389A>C | CA338269342 | PADI6 | c.2036A>C (p.Asn679Thr) | |
| 1 | g.17401389A>G | CA338269344 | PADI6 | c.2036A>G (p.Asn679Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401389A>T | CA338269345 | PADI6 | c.2036A>T (p.Asn679Ile) | |
| 1 | g.17401390C>A | CA338269347 | PADI6 | c.2037C>A (p.Asn679Lys) | |
| 1 | g.17401390C= | CA1144640866 | PADI6 | c.2037C= (p.Asn679=) | |
| 1 | g.17401390C>G | CA338269349 | PADI6 | c.2037C>G (p.Asn679Lys) | |
| 1 | g.17401390C>T | CA641999 | PADI6 | c.2037C>T (p.Asn679=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401391A= | CA1156231236 | PADI6 | c.2038A= (p.Ile680=) | |
| 1 | g.17401391A>C | CA338269351 | PADI6 | c.2038A>C (p.Ile680Leu) | dbSNP gnomAD v4 |
| 1 | g.17401391A>G | CA338269353 | PADI6 | c.2038A>G (p.Ile680Val) | |
| 1 | g.17401391A>T | CA338269354 | PADI6 | c.2038A>T (p.Ile680Phe) | |
| 1 | g.17401392T>A | CA338269356 | PADI6 | c.2039T>A (p.Ile680Asn) | |
| 1 | g.17401392T>C | CA338269357 | PADI6 | c.2039T>C (p.Ile680Thr) | |
| 1 | g.17401392T>G | CA338269358 | PADI6 | c.2039T>G (p.Ile680Ser) | |
| 1 | g.17401393C>A | CA416408187 | PADI6 | c.2040C>A (p.Ile680=) | |
| 1 | g.17401393C>G | CA338269360 | PADI6 | c.2040C>G (p.Ile680Met) | |
| 1 | g.17401393C>T | CA416408186 | PADI6 | c.2040C>T (p.Ile680=) | |
| 1 | g.17401394C>A | CA338269362 | PADI6 | c.2041C>A (p.Arg681Ser) | |
| 1 | g.17401394C= | CA1143756112 | PADI6 | c.2041C= (p.Arg681=) | |
| 1 | g.17401394C>G | CA338269363 | PADI6 | c.2041C>G (p.Arg681Gly) | dbSNP gnomAD v4 |
| 1 | g.17401394C>T | CA642000 | PADI6 | c.2041C>T (p.Arg681Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17401395G>A | CA338269365 | PADI6 | c.2042G>A (p.Arg681His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401395G>C | CA338269366 | PADI6 | c.2042G>C (p.Arg681Pro) | |
| 1 | g.17401395G= | CA1156231242 | PADI6 | c.2042G= (p.Arg681=) | |
| 1 | g.17401395G>T | CA338269368 | PADI6 | c.2042G>T (p.Arg681Leu) | gnomAD v4 |
| 1 | g.17401396C>A | CA416408189 | PADI6 | c.2043C>A (p.Arg681=) | |
| 1 | g.17401396C>G | CA416408190 | PADI6 | c.2043C>G (p.Arg681=) | |
| 1 | g.17401396C>T | CA416408191 | PADI6 | c.2043C>T (p.Arg681=) | gnomAD v4 |
| 1 | g.17401397C>A | CA416408193 | PADI6 | c.2044C>A (p.Arg682=) | |
| 1 | g.17401397C= | CA1144085139 | PADI6 | c.2044C= (p.Arg682=) | |
| 1 | g.17401397C>G | CA338269370 | PADI6 | c.2044C>G (p.Arg682Gly) | gnomAD v4 |
| 1 | g.17401397C>T | CA642001 | PADI6 | c.2044C>T (p.Arg682Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401398G>A | CA642002 | PADI6 | c.2045G>A (p.Arg682Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401398G>C | CA338269372 | PADI6 | c.2045G>C (p.Arg682Pro) | |
| 1 | g.17401398G= | CA1156231249 | PADI6 | c.2045G= (p.Arg682=) | |
| 1 | g.17401398G>T | CA338269374 | PADI6 | c.2045G>T (p.Arg682Leu) | |
| 1 | g.17401399G>A | CA416408194 | PADI6 | c.2046G>A (p.Arg682=) | |
| 1 | g.17401399G>C | CA416408195 | PADI6 | c.2046G>C (p.Arg682=) | dbSNP |
| 1 | g.17401399G= | CA1156231251 | PADI6 | c.2046G= (p.Arg682=) | |
| 1 | g.17401399G>T | CA416408196 | PADI6 | c.2046G>T (p.Arg682=) | |
| 1 | g.17401400G>A | CA338269376 | PADI6 | c.2047G>A (p.Val683Met) | gnomAD v4 |
| 1 | g.17401400G>C | CA338269377 | PADI6 | c.2047G>C (p.Val683Leu) | gnomAD v4 COSMIC |
| 1 | g.17401400G= | CA1156231256 | PADI6 | c.2047G= (p.Val683=) | |
| 1 | g.17401400G>T | CA642003 | PADI6 | c.2047G>T (p.Val683Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401401T>A | CA338269379 | PADI6 | c.2048T>A (p.Val683Glu) | |
| 1 | g.17401401T>C | CA338269381 | PADI6 | c.2048T>C (p.Val683Ala) | gnomAD v4 |
| 1 | g.17401401T>G | CA338269383 | PADI6 | c.2048T>G (p.Val683Gly) | |
| 1 | g.17401401dup | CA2643706716 | PADI6 | c.2048dup (p.Pro684AlafsTer?) | gnomAD v4 |
| 1 | g.17401402G>A | CA416408199 | PADI6 | c.2049G>A (p.Val683=) | |
| 1 | g.17401402G>C | CA416408200 | PADI6 | c.2049G>C (p.Val683=) | |
| 1 | g.17401402G>T | CA416408201 | PADI6 | c.2049G>T (p.Val683=) | |
| 1 | g.17401403C>A | CA338269384 | PADI6 | c.2050C>A (p.Pro684Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401403C= | CA1156231263 | PADI6 | c.2050C= (p.Pro684=) | |
| 1 | g.17401403C>G | CA338269386 | PADI6 | c.2050C>G (p.Pro684Ala) | |
| 1 | g.17401403C>T | CA642004 | PADI6 | c.2050C>T (p.Pro684Ser) | dbSNP ExAC |
| 1 | g.17401404C>A | CA642005 | PADI6 | c.2051C>A (p.Pro684His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401404C= | CA1156231267 | PADI6 | c.2051C= (p.Pro684=) | |
| 1 | g.17401404C>G | CA338269390 | PADI6 | c.2051C>G (p.Pro684Arg) | |
| 1 | g.17401404C>T | CA338269388 | PADI6 | c.2051C>T (p.Pro684Leu) | |
| 1 | g.17401405C>A | CA416408205 | PADI6 | c.2052C>A (p.Pro684=) | |
| 1 | g.17401405C= | CA1156231269 | PADI6 | c.2052C= (p.Pro684=) | |
| 1 | g.17401405C>G | CA416408204 | PADI6 | c.2052C>G (p.Pro684=) | |
| 1 | g.17401405C>T | CA416408203 | PADI6 | c.2052C>T (p.Pro684=) | |
| 1 | g.17401406T>A | CA338269395 | PADI6 | c.2053T>A (p.Phe685Ile) | |
| 1 | g.17401406T>C | CA338269392 | PADI6 | c.2053T>C (p.Phe685Leu) | |
| 1 | g.17401406T>G | CA338269393 | PADI6 | c.2053T>G (p.Phe685Val) | |
| 1 | g.17401408dup | CA521450354 | PADI6 | c.2055dup (p.Ala686CysfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401407T>A | CA338269396 | PADI6 | c.2054T>A (p.Phe685Tyr) | |
| 1 | g.17401407T>C | CA338269397 | PADI6 | c.2054T>C (p.Phe685Ser) | |
| 1 | g.17401407T>G | CA338269398 | PADI6 | c.2054T>G (p.Phe685Cys) | |
| 1 | g.17401408T>A | CA338269400 | PADI6 | c.2055T>A (p.Phe685Leu) | |
| 1 | g.17401408T>C | CA416408207 | PADI6 | c.2055T>C (p.Phe685=) | |
| 1 | g.17401408T>G | CA338269401 | PADI6 | c.2055T>G (p.Phe685Leu) | |
| 1 | g.17401409G>A | CA338269403 | PADI6 | c.2056G>A (p.Ala686Thr) | gnomAD v4 COSMIC |
| 1 | g.17401409G>C | CA338269404 | PADI6 | c.2056G>C (p.Ala686Pro) | gnomAD v4 |
| 1 | g.17401409G>T | CA338269405 | PADI6 | c.2056G>T (p.Ala686Ser) | |
| 1 | g.17401410C>A | CA338269407 | PADI6 | c.2057C>A (p.Ala686Asp) | |
| 1 | g.17401410C>G | CA338269409 | PADI6 | c.2057C>G (p.Ala686Gly) | |
| 1 | g.17401410C>T | CA338269410 | PADI6 | c.2057C>T (p.Ala686Val) | |
| 1 | g.17401411C>A | CA416408211 | PADI6 | c.2058C>A (p.Ala686=) | |
| 1 | g.17401411C>G | CA416408212 | PADI6 | c.2058C>G (p.Ala686=) | |
| 1 | g.17401411C>T | CA416408213 | PADI6 | c.2058C>T (p.Ala686=) | gnomAD v4 |
| 1 | g.17401412T>A | CA338269413 | PADI6 | c.2059T>A (p.Phe687Ile) | |
| 1 | g.17401412T>C | CA338269412 | PADI6 | c.2059T>C (p.Phe687Leu) | gnomAD v4 |
| 1 | g.17401412T>G | CA338269411 | PADI6 | c.2059T>G (p.Phe687Val) | |
| 1 | g.17401413T>A | CA338269415 | PADI6 | c.2060T>A (p.Phe687Tyr) | |
| 1 | g.17401413T>C | CA338269417 | PADI6 | c.2060T>C (p.Phe687Ser) | |
| 1 | g.17401413T>G | CA338269418 | PADI6 | c.2060T>G (p.Phe687Cys) | |
| 1 | g.17401414C>A | CA338269420 | PADI6 | c.2061C>A (p.Phe687Leu) | |
| 1 | g.17401414C>G | CA338269421 | PADI6 | c.2061C>G (p.Phe687Leu) | |
| 1 | g.17401414C>T | CA416408214 | PADI6 | c.2061C>T (p.Phe687=) | gnomAD v4 COSMIC |
| 1 | g.17401415A= | CA1156231273 | PADI6 | c.2062A= (p.Lys688=) | |
| 1 | g.17401415A>C | CA338269422 | PADI6 | c.2062A>C (p.Lys688Gln) | |
| 1 | g.17401415A>G | CA338269424 | PADI6 | c.2062A>G (p.Lys688Glu) | dbSNP |
| 1 | g.17401415A>T | CA338269425 | PADI6 | c.2062A>T (p.Lys688Ter) | |
| 1 | g.17401416A>C | CA338269427 | PADI6 | c.2063A>C (p.Lys688Thr) | |
| 1 | g.17401416A>G | CA338269429 | PADI6 | c.2063A>G (p.Lys688Arg) | |
| 1 | g.17401416A>T | CA338269430 | PADI6 | c.2063A>T (p.Lys688Ile) | |
| 1 | g.17401417A= | CA1156231277 | PADI6 | c.2064A= (p.Lys688=) | |
| 1 | g.17401417A>C | CA338269432 | PADI6 | c.2064A>C (p.Lys688Asn) | |
| 1 | g.17401417A>G | CA642006 | PADI6 | c.2064A>G (p.Lys688=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401417A>T | CA338269434 | PADI6 | c.2064A>T (p.Lys688Asn) | |
| 1 | g.17401418T>A | CA338269436 | PADI6 | c.2065T>A (p.Trp689Arg) | |
| 1 | g.17401418T>C | CA338269438 | PADI6 | c.2065T>C (p.Trp689Arg) | |
| 1 | g.17401418T>G | CA338269435 | PADI6 | c.2065T>G (p.Trp689Gly) | |
| 1 | g.17401419G>A | CA338269440 | PADI6 | c.2066G>A (p.Trp689Ter) | |
| 1 | g.17401419G>C | CA338269442 | PADI6 | c.2066G>C (p.Trp689Ser) | |
| 1 | g.17401419G>T | CA338269443 | PADI6 | c.2066G>T (p.Trp689Leu) | gnomAD v4 |
| 1 | g.17401420G>A | CA338269446 | PADI6 | c.2067G>A (p.Trp689Ter) | |
| 1 | g.17401420G>C | CA338269448 | PADI6 | c.2067G>C (p.Trp689Cys) | |
| 1 | g.17401420G= | CA1156231278 | PADI6 | c.2067G= (p.Trp689=) | |
| 1 | g.17401420G>T | CA338269449 | PADI6 | c.2067G>T (p.Trp689Cys) | |
| 1 | g.17401421T>A | CA338269450 | PADI6 | c.2068T>A (p.Trp690Arg) | |
| 1 | g.17401421T>C | CA338269452 | PADI6 | c.2068T>C (p.Trp690Arg) | |
| 1 | g.17401421T>G | CA338269454 | PADI6 | c.2068T>G (p.Trp690Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401421T= | CA1156231280 | PADI6 | c.2068T= (p.Trp690=) | |
| 1 | g.17401421dup | CA1156231279 | PADI6 | c.2068dup (p.Trp690LeufsTer29) | dbSNP |
| 1 | g.17401422G>A | CA338269456 | PADI6 | c.2069G>A (p.Trp690Ter) | dbSNP gnomAD v4 |
| 1 | g.17401422G>C | CA338269457 | PADI6 | c.2069G>C (p.Trp690Ser) | |
| 1 | g.17401422G= | CA1156231283 | PADI6 | c.2069G= (p.Trp690=) | |
| 1 | g.17401422G>T | CA338269459 | PADI6 | c.2069G>T (p.Trp690Leu) | |
| 1 | g.17401423G>A | CA338269463 | PADI6 | c.2070G>A (p.Trp690Ter) | |
| 1 | g.17401423G>C | CA338269460 | PADI6 | c.2070G>C (p.Trp690Cys) | |
| 1 | g.17401423G>T | CA338269462 | PADI6 | c.2070G>T (p.Trp690Cys) | |
| 1 | g.17401424A>C | CA338269465 | PADI6 | c.2071A>C (p.Lys691Gln) | |
| 1 | g.17401424A>G | CA338269467 | PADI6 | c.2071A>G (p.Lys691Glu) | |
| 1 | g.17401424A>T | CA338269468 | PADI6 | c.2071A>T (p.Lys691Ter) | |
| 1 | g.17401425A= | CA1156231286 | PADI6 | c.2072A= (p.Lys691=) | |
| 1 | g.17401425A>C | CA338269470 | PADI6 | c.2072A>C (p.Lys691Thr) | |
| 1 | g.17401425A>G | CA642007 | PADI6 | c.2072A>G (p.Lys691Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401425A>T | CA338269473 | PADI6 | c.2072A>T (p.Lys691Met) | |
| 1 | g.17401426G>A | CA416408220 | PADI6 | c.2073G>A (p.Lys691=) | |
| 1 | g.17401426G>C | CA338269474 | PADI6 | c.2073G>C (p.Lys691Asn) | |
| 1 | g.17401426G= | CA1156231289 | PADI6 | c.2073G= (p.Lys691=) | |
| 1 | g.17401426G>T | CA642008 | PADI6 | c.2073G>T (p.Lys691Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401426dup | CA2643706718 | PADI6 | c.2073dup (p.Met692AspfsTer27) | gnomAD v4 |
| 1 | g.17401427A>C | CA338269476 | PADI6 | c.2074A>C (p.Met692Leu) | |
| 1 | g.17401427A>G | CA338269477 | PADI6 | c.2074A>G (p.Met692Val) | |
| 1 | g.17401427A>T | CA338269478 | PADI6 | c.2074A>T (p.Met692Leu) | |
| 1 | g.17401428T>A | CA338269483 | PADI6 | c.2075T>A (p.Met692Lys) | gnomAD v4 |
| 1 | g.17401428T>C | CA338269481 | PADI6 | c.2075T>C (p.Met692Thr) | |
| 1 | g.17401428T>G | CA338269480 | PADI6 | c.2075T>G (p.Met692Arg) | |
| 1 | g.17401429G>A | CA642009 | PADI6 | c.2076G>A (p.Met692Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401429G>C | CA338269487 | PADI6 | c.2076G>C (p.Met692Ile) | |
| 1 | g.17401429G= | CA1144199690 | PADI6 | c.2076G= (p.Met692=) | |
| 1 | g.17401429G>T | CA338269485 | PADI6 | c.2076G>T (p.Met692Ile) | |
| 1 | g.17401429_17401430insCCGCAGCTCGCAAAGCCCCTGCCGAACAGATGCTCACCAAAATTGCCCGA | CA2742649273 | PADI6 | c.2076_2077insCCGCAGCTCGCAAAGCCCCTGCCGAACAGATGCTCACCAAAATTGCCCGA (p.Val693ProfsTer?) | |
| 1 | g.17401430G>A | CA338269489 | PADI6 | c.2077G>A (p.Val693Ile) | gnomAD v4 |
| 1 | g.17401430G>C | CA338269491 | PADI6 | c.2077G>C (p.Val693Leu) | |
| 1 | g.17401430G= | CA1156231295 | PADI6 | c.2077G= (p.Val693=) | |
| 1 | g.17401430G>T | CA338269492 | PADI6 | c.2077G>T (p.Val693Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401430_17401432del | CA2643706720 | PADI6 | c.2077_2079del (p.Val693del) | gnomAD v4 |
| 1 | g.17401431T>A | CA338269494 | PADI6 | c.2078T>A (p.Val693Glu) | |
| 1 | g.17401431T>C | CA338269495 | PADI6 | c.2078T>C (p.Val693Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401431T>G | CA338269496 | PADI6 | c.2078T>G (p.Val693Gly) | |
| 1 | g.17401431T= | CA1156231298 | PADI6 | c.2078T= (p.Val693=) | |
| 1 | g.17401431_17401432insTTATACCCCTGTGGTGGTCGC | CA2742649274 | PADI6 | c.2078_2079insTTATACCCCTGTGGTGGTCGC (p.Val693_Pro694insTyrThrProValValValAla) | |
| 1 | g.17401432A>C | CA416408224 | PADI6 | c.2079A>C (p.Val693=) | |
| 1 | g.17401432A>G | CA416408225 | PADI6 | c.2079A>G (p.Val693=) | |
| 1 | g.17401432A>T | CA416408227 | PADI6 | c.2079A>T (p.Val693=) | |
| 1 | g.17401433C>A | CA338269498 | PADI6 | c.2080C>A (p.Pro694Thr) | |
| 1 | g.17401433C= | CA1156231304 | PADI6 | c.2080C= (p.Pro694=) | |
| 1 | g.17401433C>G | CA338269499 | PADI6 | c.2080C>G (p.Pro694Ala) | |
| 1 | g.17401433C>T | CA338269500 | PADI6 | c.2080C>T (p.Pro694Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401434C>A | CA338269502 | PADI6 | c.2081C>A (p.Pro694His) | |
| 1 | g.17401434C>G | CA338269504 | PADI6 | c.2081C>G (p.Pro694Arg) | |
| 1 | g.17401434C>T | CA338269506 | PADI6 | c.2081C>T (p.Pro694Leu) | |
| 1 | g.17401435T>A | CA416408228 | PADI6 | c.2082T>A (p.Pro694=) | |
| 1 | g.17401435T>C | CA416408230 | PADI6 | c.2082T>C (p.Pro694=) | |
| 1 | g.17401435T>G | CA416408231 | PADI6 | c.2082T>G (p.Pro694=) | |
| 1 | g.17401436T>A | CA338269511 | PADI6 | c.2083T>A (p.Ter695Lys) | gnomAD v4 |
| 1 | g.17401436T>C | CA338269507 | PADI6 | c.2083T>C (p.Ter695Gln) | |
| 1 | g.17401436T>G | CA338269509 | PADI6 | c.2083T>G (p.Ter695Glu) | |
| 1 | g.17401437A>C | CA338269512 | PADI6 | c.2084A>C (p.Ter695Ser) | |
| 1 | g.17401437A>G | CA338269514 | PADI6 | c.2084A>G (p.Ter695Trp) | |
| 1 | g.17401437A>T | CA338269515 | PADI6 | c.2084A>T (p.Ter695Leu) | |
| 1 | g.17401437_17401441del | CA2643706724 | PADI6 | c.2084_*3del (n.[c.2084_*3del;Ter695SerextTer22]) | gnomAD v4 |
| 1 | g.17401438G>A | CA416408232 | PADI6 | c.2085G>A (p.Ter695=) | |
| 1 | g.17401438G>C | CA642010 | PADI6 | c.2085G>C (p.Ter695Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401438G= | CA1148306648 | PADI6 | c.2085G= (p.Ter695=) | |
| 1 | g.17401438G>T | CA338269516 | PADI6 | c.2085G>T (p.Ter695Tyr) | |
| 1 | g.17401439A= | CA1156231308 | PADI6 | c.*1A= (n.*1A=) | |
| 1 | g.17401439A>C | CA416408235 | PADI6 | c.*1A>C (n.*1A>C) | gnomAD v4 |
| 1 | g.17401439A>G | CA416408233 | PADI6 | c.*1A>G (n.*1A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401439A>T | CA416408234 | PADI6 | c.*1A>T (n.*1A>T) | dbSNP |
| 1 | g.17401440C>A | CA416408236 | PADI6 | c.*2C>A (n.*2C>A) | |
| 1 | g.17401440C= | CA1156231311 | PADI6 | c.*2C= (n.*2C=) | |
| 1 | g.17401440C>G | CA416408237 | PADI6 | c.*2C>G (n.*2C>G) | |
| 1 | g.17401440C>T | CA416408238 | PADI6 | c.*2C>T (n.*2C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401441C>A | CA416408239 | PADI6 | c.*3C>A (n.*3C>A) | gnomAD v4 |
| 1 | g.17401441C>G | CA416408240 | PADI6 | c.*3C>G (n.*3C>G) | |
| 1 | g.17401441C>T | CA416408242 | PADI6 | c.*3C>T (n.*3C>T) | |
| 1 | g.17401442C>A | CA416408244 | PADI6 | c.*4C>A (n.*4C>A) | |
| 1 | g.17401442C>G | CA416408245 | PADI6 | c.*4C>G (n.*4C>G) | |
| 1 | g.17401442C>T | CA416408247 | PADI6 | c.*4C>T (n.*4C>T) | |
| 1 | g.17401443A>C | CA416408248 | PADI6 | c.*5A>C (n.*5A>C) | |
| 1 | g.17401443A>G | CA416408249 | PADI6 | c.*5A>G (n.*5A>G) | dbSNP |
| 1 | g.17401443A>T | CA416408250 | PADI6 | c.*5A>T (n.*5A>T) | |
| 1 | g.17401443_17401444insAAT | CA2643702452 | PADI6 | c.*5_*6insAAT (n.*5_*6insAAT) | gnomAD v4 |
| 1 | g.17401444G>A | CA416408251 | PADI6 | c.*6G>A (n.*6G>A) | |
| 1 | g.17401444G>C | CA416408253 | PADI6 | c.*6G>C (n.*6G>C) | |
| 1 | g.17401444G>T | CA416408252 | PADI6 | c.*6G>T (n.*6G>T) | |
| 1 | g.17401445G>A | CA416408256 | PADI6 | c.*7G>A (n.*7G>A) | gnomAD v4 |
| 1 | g.17401445G>C | CA416408258 | PADI6 | c.*7G>C (n.*7G>C) | |
| 1 | g.17401445G>T | CA416408259 | PADI6 | c.*7G>T (n.*7G>T) | |
| 1 | g.17401446C>A | CA416408260 | PADI6 | c.*8C>A (n.*8C>A) | |
| 1 | g.17401446C= | CA1156231317 | PADI6 | c.*8C= (n.*8C=) | |
| 1 | g.17401446C>G | CA416408261 | PADI6 | c.*8C>G (n.*8C>G) | |
| 1 | g.17401446C>T | CA642011 | PADI6 | c.*8C>T (n.*8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401447C>A | CA416408262 | PADI6 | c.*9C>A (n.*9C>A) | |
| 1 | g.17401447C= | CA1156231320 | PADI6 | c.*9C= (n.*9C=) | |
| 1 | g.17401447C>G | CA416408263 | PADI6 | c.*9C>G (n.*9C>G) | |
| 1 | g.17401447C>T | CA416408264 | PADI6 | c.*9C>T (n.*9C>T) | dbSNP COSMIC |
| 1 | g.17401447_17401449del | CA2643702455 | PADI6 | c.*9_*11del (n.*9_*11del) | gnomAD v4 |
| 1 | g.17401448C>A | CA416408267 | PADI6 | c.*10C>A (n.*10C>A) | |
| 1 | g.17401448C= | CA1156231325 | PADI6 | c.*10C= (n.*10C=) | |
| 1 | g.17401448C>G | CA416408269 | PADI6 | c.*10C>G (n.*10C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401448C>T | CA18661067 | PADI6 | c.*10C>T (n.*10C>T) | dbSNP |
| 1 | g.17401449T>A | CA416408270 | PADI6 | c.*11T>A (n.*11T>A) | |
| 1 | g.17401449T>C | CA416408271 | PADI6 | c.*11T>C (n.*11T>C) | |
| 1 | g.17401449T>G | CA416408272 | PADI6 | c.*11T>G (n.*11T>G) | |
| 1 | g.17401450G>A | CA642012 | PADI6 | c.*12G>A (n.*12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401450G>C | CA416408273 | PADI6 | c.*12G>C (n.*12G>C) | |
| 1 | g.17401450G= | CA1156231328 | PADI6 | c.*12G= (n.*12G=) | |
| 1 | g.17401450G>T | CA416408274 | PADI6 | c.*12G>T (n.*12G>T) | |
| 1 | g.17401451G>A | CA416408275 | PADI6 | c.*13G>A (n.*13G>A) | |
| 1 | g.17401451G>C | CA416408276 | PADI6 | c.*13G>C (n.*13G>C) | |
| 1 | g.17401451G>T | CA416408277 | PADI6 | c.*13G>T (n.*13G>T) | |
| 1 | g.17401452A= | CA1148563520 | PADI6 | c.*14A= (n.*14A=) | |
| 1 | g.17401452A>C | CA416408279 | PADI6 | c.*14A>C (n.*14A>C) | |
| 1 | g.17401452A>G | CA642013 | PADI6 | c.*14A>G (n.*14A>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.17401452A>T | CA416408280 | PADI6 | c.*14A>T (n.*14A>T) | |
| 1 | g.17401453G>A | CA416408281 | PADI6 | c.*15G>A (n.*15G>A) | |
| 1 | g.17401453G>C | CA416408282 | PADI6 | c.*15G>C (n.*15G>C) | |
| 1 | g.17401453G>T | CA416408283 | PADI6 | c.*15G>T (n.*15G>T) | |
| 1 | g.17401454C>A | CA416408284 | PADI6 | c.*16C>A (n.*16C>A) | gnomAD v4 |
| 1 | g.17401454C>G | CA416408285 | PADI6 | c.*16C>G (n.*16C>G) | |
| 1 | g.17401454C>T | CA416408287 | PADI6 | c.*16C>T (n.*16C>T) | |
| 1 | g.17401455T>A | CA416408288 | PADI6 | c.*17T>A (n.*17T>A) | |
| 1 | g.17401455T>C | CA416408289 | PADI6 | c.*17T>C (n.*17T>C) | |
| 1 | g.17401455T>G | CA416408290 | PADI6 | c.*17T>G (n.*17T>G) | |
| 1 | g.17401456G>A | CA642014 | PADI6 | c.*18G>A (n.*18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401456G>C | CA416408291 | PADI6 | c.*18G>C (n.*18G>C) | |
| 1 | g.17401456G= | CA1156231330 | PADI6 | c.*18G= (n.*18G=) | |
| 1 | g.17401456G>T | CA416408292 | PADI6 | c.*18G>T (n.*18G>T) | |
| 1 | g.17401457C>A | CA416408293 | PADI6 | c.*19C>A (n.*19C>A) | |
| 1 | g.17401457C>G | CA416408294 | PADI6 | c.*19C>G (n.*19C>G) | |
| 1 | g.17401457C>T | CA416408295 | PADI6 | c.*19C>T (n.*19C>T) | |
| 1 | g.17401458del | CA2574238484 | PADI6 | c.*20del (n.*20del) | |
| 1 | g.17401458C>A | CA416408297 | PADI6 | c.*20C>A (n.*20C>A) | |
| 1 | g.17401458C= | CA1156231331 | PADI6 | c.*20C= (n.*20C=) | |
| 1 | g.17401458C>G | CA416408299 | PADI6 | c.*20C>G (n.*20C>G) | |
| 1 | g.17401458C>T | CA416408300 | PADI6 | c.*20C>T (n.*20C>T) | dbSNP gnomAD v4 |
| 1 | g.17401459A= | CA1156231332 | PADI6 | c.*21A= (n.*21A=) | |
| 1 | g.17401459A>C | CA416408303 | PADI6 | c.*21A>C (n.*21A>C) | |
| 1 | g.17401459A>G | CA416408304 | PADI6 | c.*21A>G (n.*21A>G) | dbSNP gnomAD v4 |
| 1 | g.17401459A>T | CA416408305 | PADI6 | c.*21A>T (n.*21A>T) | gnomAD v4 |
| 1 | g.17401460G>A | CA416408308 | PADI6 | c.*22G>A (n.*22G>A) | gnomAD v4 |
| 1 | g.17401460G>C | CA416408306 | PADI6 | c.*22G>C (n.*22G>C) | |
| 1 | g.17401460G>T | CA416408307 | PADI6 | c.*22G>T (n.*22G>T) | |
| 1 | g.17401461C>A | CA416408309 | PADI6 | c.*23C>A (n.*23C>A) | |
| 1 | g.17401461C>G | CA416408310 | PADI6 | c.*23C>G (n.*23C>G) | |
| 1 | g.17401461C>T | CA416408311 | PADI6 | c.*23C>T (n.*23C>T) | |
| 1 | g.17401462T>A | CA416408313 | PADI6 | c.*24T>A (n.*24T>A) | |
| 1 | g.17401462T>C | CA416408315 | PADI6 | c.*24T>C (n.*24T>C) | |
| 1 | g.17401462T>G | CA416408316 | PADI6 | c.*24T>G (n.*24T>G) |