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 |
|---|---|---|---|---|---|
| 13 | g.27924427G>A | CA387645863 | PDX1 | c.578G>A (p.Trp193Ter) | |
| 13 | g.27924427G>C | CA387645865 | PDX1 | c.578G>C (p.Trp193Ser) | |
| 13 | g.27924427G>T | CA387645867 | PDX1 | c.578G>T (p.Trp193Leu) | |
| 13 | g.27924428G>A | CA387645872 | PDX1 | c.579G>A (p.Trp193Ter) | |
| 13 | g.27924428G>C | CA387645873 | PDX1 | c.579G>C (p.Trp193Cys) | gnomAD v4 |
| 13 | g.27924428G>T | CA387645870 | PDX1 | c.579G>T (p.Trp193Cys) | gnomAD v4 |
| 13 | g.27924429T>A | CA387645876 | PDX1 | c.580T>A (p.Phe194Ile) | |
| 13 | g.27924429T>C | CA387645880 | PDX1 | c.580T>C (p.Phe194Leu) | |
| 13 | g.27924429T>G | CA387645878 | PDX1 | c.580T>G (p.Phe194Val) | |
| 13 | g.27924430T>A | CA387645883 | PDX1 | c.581T>A (p.Phe194Tyr) | |
| 13 | g.27924430T>C | CA387645888 | PDX1 | c.581T>C (p.Phe194Ser) | |
| 13 | g.27924430T>G | CA387645884 | PDX1 | c.581T>G (p.Phe194Cys) | |
| 13 | g.27924431C>A | CA387645890 | PDX1 | c.582C>A (p.Phe194Leu) | |
| 13 | g.27924431C>G | CA387645892 | PDX1 | c.582C>G (p.Phe194Leu) | |
| 13 | g.27924431C>T | CA483175847 | PDX1 | c.582C>T (p.Phe194=) | |
| 13 | g.27924432C>A | CA387645894 | PDX1 | c.583C>A (p.Gln195Lys) | |
| 13 | g.27924432C>G | CA387645895 | PDX1 | c.583C>G (p.Gln195Glu) | |
| 13 | g.27924432C>T | CA387645902 | PDX1 | c.583C>T (p.Gln195Ter) | |
| 13 | g.27924433A>C | CA387645905 | PDX1 | c.584A>C (p.Gln195Pro) | |
| 13 | g.27924433A>G | CA387645907 | PDX1 | c.584A>G (p.Gln195Arg) | |
| 13 | g.27924433A>T | CA387645908 | PDX1 | c.584A>T (p.Gln195Leu) | |
| 13 | g.27924434A>C | CA387645909 | PDX1 | c.585A>C (p.Gln195His) | |
| 13 | g.27924434A>G | CA483175852 | PDX1 | c.585A>G (p.Gln195=) | |
| 13 | g.27924434A>T | CA387645911 | PDX1 | c.585A>T (p.Gln195His) | |
| 13 | g.27924435A>C | CA387645914 | PDX1 | c.586A>C (p.Asn196His) | |
| 13 | g.27924435A>G | CA387645917 | PDX1 | c.586A>G (p.Asn196Asp) | |
| 13 | g.27924435A>T | CA387645918 | PDX1 | c.586A>T (p.Asn196Tyr) | |
| 13 | g.27924436A= | CA2080721269 | PDX1 | c.587A= (p.Asn196=) | |
| 13 | g.27924436A>C | CA6927685 | PDX1 | c.587A>C (p.Asn196Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.27924436A>G | CA387645923 | PDX1 | c.587A>G (p.Asn196Ser) | |
| 13 | g.27924436A>T | CA387645922 | PDX1 | c.587A>T (p.Asn196Ile) | |
| 13 | g.27924437C>A | CA387645927 | PDX1 | c.588C>A (p.Asn196Lys) | |
| 13 | g.27924437C>G | CA387645929 | PDX1 | c.588C>G (p.Asn196Lys) | |
| 13 | g.27924437C>T | CA483175861 | PDX1 | c.588C>T (p.Asn196=) | |
| 13 | g.27924438C>A | CA387645931 | PDX1 | c.589C>A (p.Arg197Ser) | |
| 13 | g.27924438C= | CA2080721270 | PDX1 | c.589C= (p.Arg197=) | |
| 13 | g.27924438C>G | CA387645933 | PDX1 | c.589C>G (p.Arg197Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924438C>T | CA387645934 | PDX1 | c.589C>T (p.Arg197Cys) | |
| 13 | g.27924439G>A | CA119970 | PDX1 | c.590G>A (p.Arg197His) | ClinVar dbSNP |
| 13 | g.27924439G>C | CA387645940 | PDX1 | c.590G>C (p.Arg197Pro) | |
| 13 | g.27924439G= | CA2080721271 | PDX1 | c.590G= (p.Arg197=) | |
| 13 | g.27924439G>T | CA387645942 | PDX1 | c.590G>T (p.Arg197Leu) | gnomAD v3 gnomAD v4 |
| 13 | g.27924440C>A | CA483175871 | PDX1 | c.591C>A (p.Arg197=) | |
| 13 | g.27924440C= | CA2080721272 | PDX1 | c.591C= (p.Arg197=) | |
| 13 | g.27924440C>G | CA483175872 | PDX1 | c.591C>G (p.Arg197=) | |
| 13 | g.27924440C>T | CA483175873 | PDX1 | c.591C>T (p.Arg197=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924441C>A | CA6927686 | PDX1 | c.592C>A (p.Arg198Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.27924441C= | CA2080721273 | PDX1 | c.592C= (p.Arg198=) | |
| 13 | g.27924441C>G | CA387645947 | PDX1 | c.592C>G (p.Arg198Gly) | |
| 13 | g.27924441C>T | CA387645949 | PDX1 | c.592C>T (p.Arg198Cys) | gnomAD v4 |
| 13 | g.27924442G>A | CA387645955 | PDX1 | c.593G>A (p.Arg198His) | COSMIC |
| 13 | g.27924442G>C | CA387645954 | PDX1 | c.593G>C (p.Arg198Pro) | dbSNP |
| 13 | g.27924442G= | CA2080721274 | PDX1 | c.593G= (p.Arg198=) | |
| 13 | g.27924442G>T | CA387645952 | PDX1 | c.593G>T (p.Arg198Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.27924443C>A | CA483175879 | PDX1 | c.594C>A (p.Arg198=) | |
| 13 | g.27924443C>G | CA483175881 | PDX1 | c.594C>G (p.Arg198=) | |
| 13 | g.27924443C>T | CA483175882 | PDX1 | c.594C>T (p.Arg198=) | gnomAD v4 |
| 13 | g.27924444A>C | CA387645958 | PDX1 | c.595A>C (p.Met199Leu) | |
| 13 | g.27924444A>G | CA387645960 | PDX1 | c.595A>G (p.Met199Val) | |
| 13 | g.27924444A>T | CA387645962 | PDX1 | c.595A>T (p.Met199Leu) | |
| 13 | g.27924445T>A | CA387645965 | PDX1 | c.596T>A (p.Met199Lys) | gnomAD v3 gnomAD v4 |
| 13 | g.27924445T>C | CA387645967 | PDX1 | c.596T>C (p.Met199Thr) | |
| 13 | g.27924445T>G | CA387645969 | PDX1 | c.596T>G (p.Met199Arg) | |
| 13 | g.27924446G>A | CA387645981 | PDX1 | c.597G>A (p.Met199Ile) | |
| 13 | g.27924446G>C | CA387645982 | PDX1 | c.597G>C (p.Met199Ile) | |
| 13 | g.27924446G>T | CA387645984 | PDX1 | c.597G>T (p.Met199Ile) | |
| 13 | g.27924447A>C | CA387645987 | PDX1 | c.598A>C (p.Lys200Gln) | |
| 13 | g.27924447A>G | CA387645988 | PDX1 | c.598A>G (p.Lys200Glu) | |
| 13 | g.27924447A>T | CA387645990 | PDX1 | c.598A>T (p.Lys200Ter) | |
| 13 | g.27924448A>C | CA387645997 | PDX1 | c.599A>C (p.Lys200Thr) | |
| 13 | g.27924448A>G | CA387645993 | PDX1 | c.599A>G (p.Lys200Arg) | |
| 13 | g.27924448A>T | CA387645995 | PDX1 | c.599A>T (p.Lys200Met) | |
| 13 | g.27924449G>A | CA483175901 | PDX1 | c.600G>A (p.Lys200=) | gnomAD v4 |
| 13 | g.27924449G>C | CA387645999 | PDX1 | c.600G>C (p.Lys200Asn) | |
| 13 | g.27924449G>T | CA387646000 | PDX1 | c.600G>T (p.Lys200Asn) | |
| 13 | g.27924450T>A | CA387646004 | PDX1 | c.601T>A (p.Trp201Arg) | |
| 13 | g.27924450T>C | CA387646006 | PDX1 | c.601T>C (p.Trp201Arg) | |
| 13 | g.27924450T>G | CA387646008 | PDX1 | c.601T>G (p.Trp201Gly) | |
| 13 | g.27924451G>A | CA387646011 | PDX1 | c.602G>A (p.Trp201Ter) | |
| 13 | g.27924451G>C | CA387646012 | PDX1 | c.602G>C (p.Trp201Ser) | |
| 13 | g.27924451G>T | CA387646014 | PDX1 | c.602G>T (p.Trp201Leu) | gnomAD v4 |
| 13 | g.27924452G>A | CA387646017 | PDX1 | c.603G>A (p.Trp201Ter) | |
| 13 | g.27924452G>C | CA387646018 | PDX1 | c.603G>C (p.Trp201Cys) | |
| 13 | g.27924452G>T | CA387646019 | PDX1 | c.603G>T (p.Trp201Cys) | |
| 13 | g.27924453A>C | CA387646026 | PDX1 | c.604A>C (p.Lys202Gln) | |
| 13 | g.27924453A>G | CA387646024 | PDX1 | c.604A>G (p.Lys202Glu) | |
| 13 | g.27924453A>T | CA387646023 | PDX1 | c.604A>T (p.Lys202Ter) | |
| 13 | g.27924457del | CA2622478297 | PDX1 | c.608del (p.Lys203ArgfsTer27) | gnomAD v4 |
| 13 | g.27924454A>C | CA387646028 | PDX1 | c.605A>C (p.Lys202Thr) | |
| 13 | g.27924454A>G | CA387646030 | PDX1 | c.605A>G (p.Lys202Arg) | |
| 13 | g.27924454A>T | CA387646032 | PDX1 | c.605A>T (p.Lys202Ile) | |
| 13 | g.27924455A= | CA2080721275 | PDX1 | c.606A= (p.Lys202=) | |
| 13 | g.27924455A>C | CA387646036 | PDX1 | c.606A>C (p.Lys202Asn) | |
| 13 | g.27924455A>G | CA483175918 | PDX1 | c.606A>G (p.Lys202=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924455A>T | CA387646037 | PDX1 | c.606A>T (p.Lys202Asn) | |
| 13 | g.27924456A>C | CA387646040 | PDX1 | c.607A>C (p.Lys203Gln) | |
| 13 | g.27924456A>G | CA387646042 | PDX1 | c.607A>G (p.Lys203Glu) | |
| 13 | g.27924456A>T | CA387646044 | PDX1 | c.607A>T (p.Lys203Ter) | |
| 13 | g.27924456_27924459delinsAAGG | CA2080721276 | PDX1 | c.607_610delinsAAGG (p.Lys203=) | |
| 13 | g.27924457A>C | CA387646047 | PDX1 | c.608A>C (p.Lys203Thr) | |
| 13 | g.27924457A>G | CA387646049 | PDX1 | c.608A>G (p.Lys203Arg) | |
| 13 | g.27924457A>T | CA387646051 | PDX1 | c.608A>T (p.Lys203Met) | |
| 13 | g.27924464_27924466del | CA697008921 | PDX1 | c.615_617del (p.Glu205del) | dbSNP gnomAD v4 |
| 13 | g.27924458G>A | CA483175928 | PDX1 | c.609G>A (p.Lys203=) | |
| 13 | g.27924458G>C | CA247265415 | PDX1 | c.609G>C (p.Lys203Asn) | dbSNP |
| 13 | g.27924458G= | CA2080721277 | PDX1 | c.609G= (p.Lys203=) | |
| 13 | g.27924458G>T | CA387646060 | PDX1 | c.609G>T (p.Lys203Asn) | |
| 13 | g.27924459G>A | CA387646066 | PDX1 | c.610G>A (p.Glu204Lys) | |
| 13 | g.27924459G>C | CA387646064 | PDX1 | c.610G>C (p.Glu204Gln) | |
| 13 | g.27924459G>T | CA387646063 | PDX1 | c.610G>T (p.Glu204Ter) | |
| 13 | g.27924460A>C | CA387646069 | PDX1 | c.611A>C (p.Glu204Ala) | |
| 13 | g.27924460A>G | CA387646071 | PDX1 | c.611A>G (p.Glu204Gly) | gnomAD v4 |
| 13 | g.27924460A>T | CA387646074 | PDX1 | c.611A>T (p.Glu204Val) | |
| 13 | g.27924461G>A | CA483175937 | PDX1 | c.612G>A (p.Glu204=) | dbSNP COSMIC |
| 13 | g.27924461G>C | CA387646076 | PDX1 | c.612G>C (p.Glu204Asp) | |
| 13 | g.27924461G= | CA2080721278 | PDX1 | c.612G= (p.Glu204=) | |
| 13 | g.27924461G>T | CA387646078 | PDX1 | c.612G>T (p.Glu204Asp) | |
| 13 | g.27924462G>A | CA247265417 | PDX1 | c.613G>A (p.Glu205Lys) | dbSNP gnomAD v4 |
| 13 | g.27924462G>C | CA387646082 | PDX1 | c.613G>C (p.Glu205Gln) | |
| 13 | g.27924462G= | CA2080721279 | PDX1 | c.613G= (p.Glu205=) | |
| 13 | g.27924462G>T | CA387646083 | PDX1 | c.613G>T (p.Glu205Ter) | |
| 13 | g.27924463A>C | CA387646087 | PDX1 | c.614A>C (p.Glu205Ala) | |
| 13 | g.27924463A>G | CA387646088 | PDX1 | c.614A>G (p.Glu205Gly) | |
| 13 | g.27924463A>T | CA387646090 | PDX1 | c.614A>T (p.Glu205Val) | |
| 13 | g.27924464G>A | CA483175943 | PDX1 | c.615G>A (p.Glu205=) | |
| 13 | g.27924464G>C | CA387646093 | PDX1 | c.615G>C (p.Glu205Asp) | |
| 13 | g.27924464G>T | CA387646095 | PDX1 | c.615G>T (p.Glu205Asp) | |
| 13 | g.27924465G>A | CA387646100 | PDX1 | c.616G>A (p.Asp206Asn) | dbSNP gnomAD v4 |
| 13 | g.27924465G>C | CA387646102 | PDX1 | c.616G>C (p.Asp206His) | |
| 13 | g.27924465G= | CA2080721280 | PDX1 | c.616G= (p.Asp206=) | |
| 13 | g.27924465G>T | CA387646098 | PDX1 | c.616G>T (p.Asp206Tyr) | |
| 13 | g.27924466A= | CA2080721281 | PDX1 | c.617A= (p.Asp206=) | |
| 13 | g.27924466A>C | CA387646105 | PDX1 | c.617A>C (p.Asp206Ala) | |
| 13 | g.27924466A>G | CA387646107 | PDX1 | c.617A>G (p.Asp206Gly) | |
| 13 | g.27924466A>T | CA6927687 | PDX1 | c.617A>T (p.Asp206Val) | dbSNP ExAC gnomAD v2 |
| 13 | g.27924467C>A | CA387646111 | PDX1 | c.618C>A (p.Asp206Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924467C= | CA2080721282 | PDX1 | c.618C= (p.Asp206=) | |
| 13 | g.27924467C>G | CA387646113 | PDX1 | c.618C>G (p.Asp206Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.27924467C>T | CA483175950 | PDX1 | c.618C>T (p.Asp206=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924468A>C | CA387646115 | PDX1 | c.619A>C (p.Lys207Gln) | |
| 13 | g.27924468A>G | CA387646117 | PDX1 | c.619A>G (p.Lys207Glu) | |
| 13 | g.27924468A>T | CA387646119 | PDX1 | c.619A>T (p.Lys207Ter) | |
| 13 | g.27924469A>C | CA387646121 | PDX1 | c.620A>C (p.Lys207Thr) | |
| 13 | g.27924469A>G | CA387646123 | PDX1 | c.620A>G (p.Lys207Arg) | ClinVar dbSNP |
| 13 | g.27924469A>T | CA387646124 | PDX1 | c.620A>T (p.Lys207Met) | |
| 13 | g.27924470G>A | CA483175955 | PDX1 | c.621G>A (p.Lys207=) | gnomAD v4 |
| 13 | g.27924470G>C | CA387646126 | PDX1 | c.621G>C (p.Lys207Asn) | |
| 13 | g.27924470G>T | CA387646128 | PDX1 | c.621G>T (p.Lys207Asn) | |
| 13 | g.27924471A>C | CA387646130 | PDX1 | c.622A>C (p.Lys208Gln) | |
| 13 | g.27924471A>G | CA387646133 | PDX1 | c.622A>G (p.Lys208Glu) | |
| 13 | g.27924471A>T | CA387646132 | PDX1 | c.622A>T (p.Lys208Ter) | |
| 13 | g.27924472A>C | CA387646135 | PDX1 | c.623A>C (p.Lys208Thr) | |
| 13 | g.27924472A>G | CA387646137 | PDX1 | c.623A>G (p.Lys208Arg) | gnomAD v4 |
| 13 | g.27924472A>T | CA387646138 | PDX1 | c.623A>T (p.Lys208Met) | |
| 13 | g.27924473G>A | CA483175957 | PDX1 | c.624G>A (p.Lys208=) | |
| 13 | g.27924473G>C | CA387646141 | PDX1 | c.624G>C (p.Lys208Asn) | |
| 13 | g.27924473G>T | CA387646142 | PDX1 | c.624G>T (p.Lys208Asn) | |
| 13 | g.27924474C>A | CA387646143 | PDX1 | c.625C>A (p.Arg209Ser) | |
| 13 | g.27924474C= | CA2080721283 | PDX1 | c.625C= (p.Arg209=) | |
| 13 | g.27924474C>G | CA247265419 | PDX1 | c.625C>G (p.Arg209Gly) | dbSNP |
| 13 | g.27924474C>T | CA387646146 | PDX1 | c.625C>T (p.Arg209Cys) | dbSNP gnomAD v4 |
| 13 | g.27924475G>A | CA6927688 | PDX1 | c.626G>A (p.Arg209His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.27924475G>C | CA387646149 | PDX1 | c.626G>C (p.Arg209Pro) | gnomAD v4 |
| 13 | g.27924475G= | CA2080721284 | PDX1 | c.626G= (p.Arg209=) | |
| 13 | g.27924475G>T | CA387646151 | PDX1 | c.626G>T (p.Arg209Leu) | gnomAD v4 |
| 13 | g.27924476C>A | CA483175963 | PDX1 | c.627C>A (p.Arg209=) | |
| 13 | g.27924476C>G | CA483175964 | PDX1 | c.627C>G (p.Arg209=) | gnomAD v4 |
| 13 | g.27924476C>T | CA483175965 | PDX1 | c.627C>T (p.Arg209=) | |
| 13 | g.27924477G>A | CA387646155 | PDX1 | c.628G>A (p.Gly210Ser) | gnomAD v4 |
| 13 | g.27924477G>C | CA387646157 | PDX1 | c.628G>C (p.Gly210Arg) | |
| 13 | g.27924477G>T | CA387646153 | PDX1 | c.628G>T (p.Gly210Cys) | |
| 13 | g.27924478G>A | CA387646160 | PDX1 | c.629G>A (p.Gly210Asp) | |
| 13 | g.27924478G>C | CA387646159 | PDX1 | c.629G>C (p.Gly210Ala) | |
| 13 | g.27924478G>T | CA387646162 | PDX1 | c.629G>T (p.Gly210Val) | |
| 13 | g.27924479C>A | CA483175974 | PDX1 | c.630C>A (p.Gly210=) | dbSNP gnomAD v4 |
| 13 | g.27924479C= | CA2080721285 | PDX1 | c.630C= (p.Gly210=) | |
| 13 | g.27924479C>G | CA483175973 | PDX1 | c.630C>G (p.Gly210=) | |
| 13 | g.27924479C>T | CA483175972 | PDX1 | c.630C>T (p.Gly210=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.27924480G>A | CA387646164 | PDX1 | c.631G>A (p.Gly211Ser) | COSMIC |
| 13 | g.27924480G>C | CA387646166 | PDX1 | c.631G>C (p.Gly211Arg) | |
| 13 | g.27924480G= | CA2080721286 | PDX1 | c.631G= (p.Gly211=) | |
| 13 | g.27924480G>T | CA387646167 | PDX1 | c.631G>T (p.Gly211Cys) | dbSNP gnomAD v4 |
| 13 | g.27924486_27924506dup | CA608987677 | PDX1 | c.637_657dup (p.Gly219_Val220insThrAlaValGlyGlyGlyGly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924481G>A | CA387646170 | PDX1 | c.632G>A (p.Gly211Asp) | COSMIC |
| 13 | g.27924481G>C | CA387646171 | PDX1 | c.632G>C (p.Gly211Ala) | |
| 13 | g.27924481G>T | CA387646173 | PDX1 | c.632G>T (p.Gly211Val) | |
| 13 | g.27924482C>A | CA483175981 | PDX1 | c.633C>A (p.Gly211=) | gnomAD v4 |
| 13 | g.27924482C= | CA2080721287 | PDX1 | c.633C= (p.Gly211=) | |
| 13 | g.27924482C>G | CA483175980 | PDX1 | c.633C>G (p.Gly211=) | |
| 13 | g.27924482C>T | CA6927689 | PDX1 | c.633C>T (p.Gly211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.27924483G>A | CA6927690 | PDX1 | c.634G>A (p.Gly212Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924483G>C | CA387646177 | PDX1 | c.634G>C (p.Gly212Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924483G= | CA2080721288 | PDX1 | c.634G= (p.Gly212=) | |
| 13 | g.27924483G>T | CA387646178 | PDX1 | c.634G>T (p.Gly212Trp) | |
| 13 | g.27924484G>A | CA247265423 | PDX1 | c.635G>A (p.Gly212Glu) | dbSNP gnomAD v4 |
| 13 | g.27924484G>C | CA387646181 | PDX1 | c.635G>C (p.Gly212Ala) | |
| 13 | g.27924484G= | CA2080721289 | PDX1 | c.635G= (p.Gly212=) | |
| 13 | g.27924484G>T | CA387646183 | PDX1 | c.635G>T (p.Gly212Val) | |
| 13 | g.27924485G>A | CA6927691 | PDX1 | c.636G>A (p.Gly212=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924485G>C | CA6927692 | PDX1 | c.636G>C (p.Gly212=) | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.27924485G= | CA2080721290 | PDX1 | c.636G= (p.Gly212=) | |
| 13 | g.27924485G>T | CA483175989 | PDX1 | c.636G>T (p.Gly212=) | |
| 13 | g.27924486A>C | CA387646188 | PDX1 | c.637A>C (p.Thr213Pro) | |
| 13 | g.27924486A>G | CA387646190 | PDX1 | c.637A>G (p.Thr213Ala) | |
| 13 | g.27924486A>T | CA387646191 | PDX1 | c.637A>T (p.Thr213Ser) | |
| 13 | g.27924487C>A | CA387646193 | PDX1 | c.638C>A (p.Thr213Lys) | |
| 13 | g.27924487C>G | CA387646195 | PDX1 | c.638C>G (p.Thr213Arg) | gnomAD v4 |
| 13 | g.27924487C>T | CA387646197 | PDX1 | c.638C>T (p.Thr213Ile) | gnomAD v4 |
| 13 | g.27924488A>C | CA483175993 | PDX1 | c.639A>C (p.Thr213=) | |
| 13 | g.27924488A>G | CA483175995 | PDX1 | c.639A>G (p.Thr213=) | gnomAD v4 |
| 13 | g.27924488A>T | CA483175996 | PDX1 | c.639A>T (p.Thr213=) | |
| 13 | g.27924489G>A | CA387646199 | PDX1 | c.640G>A (p.Ala214Thr) | |
| 13 | g.27924489G>C | CA387646201 | PDX1 | c.640G>C (p.Ala214Pro) | |
| 13 | g.27924489G>T | CA387646203 | PDX1 | c.640G>T (p.Ala214Ser) | |
| 13 | g.27924490C>A | CA387646205 | PDX1 | c.641C>A (p.Ala214Asp) | |
| 13 | g.27924490C= | CA2080721291 | PDX1 | c.641C= (p.Ala214=) | |
| 13 | g.27924490C>G | CA387646207 | PDX1 | c.641C>G (p.Ala214Gly) | |
| 13 | g.27924490C>T | CA387646209 | PDX1 | c.641C>T (p.Ala214Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924491T>A | CA6927693 | PDX1 | c.642T>A (p.Ala214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.27924491T>C | CA483176000 | PDX1 | c.642T>C (p.Ala214=) | |
| 13 | g.27924491T>G | CA483175999 | PDX1 | c.642T>G (p.Ala214=) | |
| 13 | g.27924491T= | CA2080721292 | PDX1 | c.642T= (p.Ala214=) | |
| 13 | g.27924492G>A | CA387646213 | PDX1 | c.643G>A (p.Val215Ile) | |
| 13 | g.27924492G>C | CA387646216 | PDX1 | c.643G>C (p.Val215Leu) | |
| 13 | g.27924492G>T | CA387646215 | PDX1 | c.643G>T (p.Val215Phe) | |
| 13 | g.27924493T>A | CA387646219 | PDX1 | c.644T>A (p.Val215Asp) | |
| 13 | g.27924493T>C | CA387646221 | PDX1 | c.644T>C (p.Val215Ala) | |
| 13 | g.27924493T>G | CA387646222 | PDX1 | c.644T>G (p.Val215Gly) | |
| 13 | g.27924494C>A | CA483176003 | PDX1 | c.645C>A (p.Val215=) | |
| 13 | g.27924494C= | CA2080721293 | PDX1 | c.645C= (p.Val215=) | |
| 13 | g.27924494C>G | CA483176005 | PDX1 | c.645C>G (p.Val215=) | |
| 13 | g.27924494C>T | CA6927694 | PDX1 | c.645C>T (p.Val215=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924495G>A | CA247265438 | PDX1 | c.646G>A (p.Gly216Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.27924495G>C | CA387646225 | PDX1 | c.646G>C (p.Gly216Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.27924495G= | CA2080721294 | PDX1 | c.646G= (p.Gly216=) | |
| 13 | g.27924495G>T | CA387646228 | PDX1 | c.646G>T (p.Gly216Trp) | gnomAD v4 |
| 13 | g.27924499del | CA2727666333 | PDX1 | c.650del (p.Gly217ValfsTer13) | dbSNP |
| 13 | g.27924495_27924496insTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTT | CA919234340 | PDX1 | c.646_647insTTCAGCAGCGCTGTCCAGCTGGCACCTAAACTGCATCACTCTGCGCCTT (p.Gly216ValfsTer10) | dbSNP |
| 13 | g.27924496G>A | CA387646231 | PDX1 | c.647G>A (p.Gly216Glu) | |
| 13 | g.27924496G>C | CA387646232 | PDX1 | c.647G>C (p.Gly216Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924496G= | CA2080721295 | PDX1 | c.647G= (p.Gly216=) | |
| 13 | g.27924496G>T | CA387646234 | PDX1 | c.647G>T (p.Gly216Val) | |
| 13 | g.27924501_27924508dup | CA2622478298 | PDX1 | c.652_659dup (p.Glu222GlyfsTer11) | gnomAD v4 |
| 13 | g.27924497G>A | CA483176010 | PDX1 | c.648G>A (p.Gly216=) | dbSNP gnomAD v4 |
| 13 | g.27924497G>C | CA483176011 | PDX1 | c.648G>C (p.Gly216=) | gnomAD v4 |
| 13 | g.27924497G= | CA2080721296 | PDX1 | c.648G= (p.Gly216=) | |
| 13 | g.27924497G>T | CA483176012 | PDX1 | c.648G>T (p.Gly216=) | |
| 13 | g.27924498G>A | CA247265441 | PDX1 | c.649G>A (p.Gly217Ser) | dbSNP |
| 13 | g.27924498G>C | CA387646238 | PDX1 | c.649G>C (p.Gly217Arg) | |
| 13 | g.27924498G= | CA2080721297 | PDX1 | c.649G= (p.Gly217=) | |
| 13 | g.27924498G>T | CA6927695 | PDX1 | c.649G>T (p.Gly217Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.27924499G>A | CA387646244 | PDX1 | c.650G>A (p.Gly217Asp) | gnomAD v4 |
| 13 | g.27924499G>C | CA387646241 | PDX1 | c.650G>C (p.Gly217Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.27924499G= | CA2080721299 | PDX1 | c.650G= (p.Gly217=) | |
| 13 | g.27924499G>T | CA387646242 | PDX1 | c.650G>T (p.Gly217Val) | dbSNP gnomAD v4 |
| 13 | g.27924499_27924500delinsGT | CA2080721298 | PDX1 | c.650_651delinsGT (p.Gly217=) | |
| 13 | g.27924500del | CA6927696 | PDX1 | c.651del (p.Gly218AlafsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.27924500T>A | CA483176018 | PDX1 | c.651T>A (p.Gly217=) | |
| 13 | g.27924500T>C | CA483176019 | PDX1 | c.651T>C (p.Gly217=) | |
| 13 | g.27924500T>G | CA483176017 | PDX1 | c.651T>G (p.Gly217=) | dbSNP |
| 13 | g.27924500T= | CA2080721300 | PDX1 | c.651T= (p.Gly217=) | |
| 13 | g.27924501G>A | CA387646249 | PDX1 | c.652G>A (p.Gly218Ser) | gnomAD v4 |
| 13 | g.27924501G>C | CA387646251 | PDX1 | c.652G>C (p.Gly218Arg) | |
| 13 | g.27924501G>T | CA387646253 | PDX1 | c.652G>T (p.Gly218Cys) | |
| 13 | g.27924502del | CA2695199241 | PDX1 | c.653del (p.Gly218AlafsTer12) | ClinVar |
| 13 | g.27924503_27924505dup | CA6927697 | PDX1 | c.654_656dup (p.Gly219_Val220insGly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.27924502G>A | CA387646255 | PDX1 | c.653G>A (p.Gly218Asp) | |
| 13 | g.27924502G>C | CA387646257 | PDX1 | c.653G>C (p.Gly218Ala) | |
| 13 | g.27924502G= | CA2080721301 | PDX1 | c.653G= (p.Gly218=) | |
| 13 | g.27924502G>T | CA387646259 | PDX1 | c.653G>T (p.Gly218Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924503C>A | CA483176027 | PDX1 | c.654C>A (p.Gly218=) | |
| 13 | g.27924503C>G | CA483176028 | PDX1 | c.654C>G (p.Gly218=) | gnomAD v4 |
| 13 | g.27924503C>T | CA483176030 | PDX1 | c.654C>T (p.Gly218=) | COSMIC |
| 13 | g.27924504G>A | CA387646261 | PDX1 | c.655G>A (p.Gly219Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924504G>C | CA387646263 | PDX1 | c.655G>C (p.Gly219Arg) | gnomAD v4 |
| 13 | g.27924504G= | CA2080721302 | PDX1 | c.655G= (p.Gly219=) | |
| 13 | g.27924504G>T | CA6927698 | PDX1 | c.655G>T (p.Gly219Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924505G>A | CA387646268 | PDX1 | c.656G>A (p.Gly219Glu) | gnomAD v4 |
| 13 | g.27924505G>C | CA387646267 | PDX1 | c.656G>C (p.Gly219Ala) | |
| 13 | g.27924505G>T | CA387646265 | PDX1 | c.656G>T (p.Gly219Val) | |
| 13 | g.27924506G>A | CA483176036 | PDX1 | c.657G>A (p.Gly219=) | dbSNP gnomAD v2 |
| 13 | g.27924506G>C | CA483176037 | PDX1 | c.657G>C (p.Gly219=) | |
| 13 | g.27924506G= | CA2080721303 | PDX1 | c.657G= (p.Gly219=) | |
| 13 | g.27924506G>T | CA483176038 | PDX1 | c.657G>T (p.Gly219=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924507G>A | CA387646270 | PDX1 | c.658G>A (p.Val220Ile) | |
| 13 | g.27924507G>C | CA387646274 | PDX1 | c.658G>C (p.Val220Leu) | |
| 13 | g.27924507G>T | CA387646271 | PDX1 | c.658G>T (p.Val220Phe) | |
| 13 | g.27924508T>A | CA6927699 | PDX1 | c.659T>A (p.Val220Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924508T>C | CA387646276 | PDX1 | c.659T>C (p.Val220Ala) | |
| 13 | g.27924508T>G | CA247265455 | PDX1 | c.659T>G (p.Val220Gly) | dbSNP COSMIC |
| 13 | g.27924508T= | CA2080721304 | PDX1 | c.659T= (p.Val220=) | |
| 13 | g.27924509C>A | CA6927700 | PDX1 | c.660C>A (p.Val220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924509C= | CA2080721305 | PDX1 | c.660C= (p.Val220=) | |
| 13 | g.27924509C>G | CA483176044 | PDX1 | c.660C>G (p.Val220=) | gnomAD v4 |
| 13 | g.27924509C>T | CA483176048 | PDX1 | c.660C>T (p.Val220=) | COSMIC |
| 13 | g.27924510G>A | CA247265464 | PDX1 | c.661G>A (p.Ala221Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924510G>C | CA387646281 | PDX1 | c.661G>C (p.Ala221Pro) | |
| 13 | g.27924510G= | CA2080721306 | PDX1 | c.661G= (p.Ala221=) | |
| 13 | g.27924510G>T | CA387646283 | PDX1 | c.661G>T (p.Ala221Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924511C>A | CA387646285 | PDX1 | c.662C>A (p.Ala221Glu) | |
| 13 | g.27924511C>G | CA387646287 | PDX1 | c.662C>G (p.Ala221Gly) | |
| 13 | g.27924511C>T | CA387646289 | PDX1 | c.662C>T (p.Ala221Val) | gnomAD v4 |
| 13 | g.27924512G>A | CA6927701 | PDX1 | c.663G>A (p.Ala221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924512G>C | CA483176053 | PDX1 | c.663G>C (p.Ala221=) | |
| 13 | g.27924512G= | CA2080721307 | PDX1 | c.663G= (p.Ala221=) | |
| 13 | g.27924512G>T | CA483176055 | PDX1 | c.663G>T (p.Ala221=) | |
| 13 | g.27924513G>A | CA6927702 | PDX1 | c.664G>A (p.Glu222Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924513G>C | CA387646293 | PDX1 | c.664G>C (p.Glu222Gln) | |
| 13 | g.27924513G= | CA2080721308 | PDX1 | c.664G= (p.Glu222=) | |
| 13 | g.27924513G>T | CA387646291 | PDX1 | c.664G>T (p.Glu222Ter) | gnomAD v4 |
| 13 | g.27924514A>C | CA387646296 | PDX1 | c.665A>C (p.Glu222Ala) | |
| 13 | g.27924514A>G | CA387646298 | PDX1 | c.665A>G (p.Glu222Gly) | |
| 13 | g.27924514A>T | CA387646300 | PDX1 | c.665A>T (p.Glu222Val) | |
| 13 | g.27924515G>A | CA483176062 | PDX1 | c.666G>A (p.Glu222=) | gnomAD v4 |
| 13 | g.27924515G>C | CA387646302 | PDX1 | c.666G>C (p.Glu222Asp) | |
| 13 | g.27924515G>T | CA387646304 | PDX1 | c.666G>T (p.Glu222Asp) | |
| 13 | g.27924516C>A | CA387646306 | PDX1 | c.667C>A (p.Pro223Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.27924516C= | CA2080721309 | PDX1 | c.667C= (p.Pro223=) | |
| 13 | g.27924516C>G | CA387646308 | PDX1 | c.667C>G (p.Pro223Ala) | gnomAD v4 |
| 13 | g.27924516C>T | CA6927703 | PDX1 | c.667C>T (p.Pro223Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924517C>A | CA387646314 | PDX1 | c.668C>A (p.Pro223His) | COSMIC |
| 13 | g.27924517C>G | CA387646316 | PDX1 | c.668C>G (p.Pro223Arg) | |
| 13 | g.27924517C>T | CA387646318 | PDX1 | c.668C>T (p.Pro223Leu) | |
| 13 | g.27924518T>A | CA483176070 | PDX1 | c.669T>A (p.Pro223=) | gnomAD v4 |
| 13 | g.27924518T>C | CA6927704 | PDX1 | c.669T>C (p.Pro223=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924518T>G | CA483176071 | PDX1 | c.669T>G (p.Pro223=) | |
| 13 | g.27924518T= | CA2080721310 | PDX1 | c.669T= (p.Pro223=) | |
| 13 | g.27924519G>A | CA119971 | PDX1 | c.670G>A (p.Glu224Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924519G>C | CA387646323 | PDX1 | c.670G>C (p.Glu224Gln) | gnomAD v4 |
| 13 | g.27924519G= | CA2080721311 | PDX1 | c.670G= (p.Glu224=) | |
| 13 | g.27924519G>T | CA387646322 | PDX1 | c.670G>T (p.Glu224Ter) | |
| 13 | g.27924520_27924521dup | CA2580086880 | PDX1 | c.671_672dup (p.Gln225SerfsTer6) | ClinVar gnomAD v4 |
| 13 | g.27924520A>C | CA387646327 | PDX1 | c.671A>C (p.Glu224Ala) | |
| 13 | g.27924520A>G | CA387646329 | PDX1 | c.671A>G (p.Glu224Gly) | |
| 13 | g.27924520A>T | CA387646331 | PDX1 | c.671A>T (p.Glu224Val) | |
| 13 | g.27924521G>A | CA483176078 | PDX1 | c.672G>A (p.Glu224=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924521G>C | CA387646333 | PDX1 | c.672G>C (p.Glu224Asp) | |
| 13 | g.27924521G= | CA2080721312 | PDX1 | c.672G= (p.Glu224=) | |
| 13 | g.27924521G>T | CA387646334 | PDX1 | c.672G>T (p.Glu224Asp) | |
| 13 | g.27924522C>A | CA387646340 | PDX1 | c.673C>A (p.Gln225Lys) | |
| 13 | g.27924522C= | CA2080721313 | PDX1 | c.673C= (p.Gln225=) | |
| 13 | g.27924522C>G | CA387646338 | PDX1 | c.673C>G (p.Gln225Glu) | |
| 13 | g.27924522C>T | CA387646336 | PDX1 | c.673C>T (p.Gln225Ter) | dbSNP |
| 13 | g.27924523A= | CA2080721314 | PDX1 | c.674A= (p.Gln225=) | |
| 13 | g.27924523A>C | CA387646342 | PDX1 | c.674A>C (p.Gln225Pro) | |
| 13 | g.27924523A>G | CA387646344 | PDX1 | c.674A>G (p.Gln225Arg) | |
| 13 | g.27924523A>T | CA387646346 | PDX1 | c.674A>T (p.Gln225Leu) | |
| 13 | g.27924524G>A | CA6927705 | PDX1 | c.675G>A (p.Gln225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924524G>C | CA387646349 | PDX1 | c.675G>C (p.Gln225His) | |
| 13 | g.27924524G= | CA2080721315 | PDX1 | c.675G= (p.Gln225=) | |
| 13 | g.27924524G>T | CA387646351 | PDX1 | c.675G>T (p.Gln225His) | |
| 13 | g.27924525_27924534dup | CA608987678 | PDX1 | c.676_685dup (p.Val229GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924525G>A | CA387646353 | PDX1 | c.676G>A (p.Asp226Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.27924525G>C | CA387646358 | PDX1 | c.676G>C (p.Asp226His) | |
| 13 | g.27924525G= | CA2080721316 | PDX1 | c.676G= (p.Asp226=) | |
| 13 | g.27924525G>T | CA387646356 | PDX1 | c.676G>T (p.Asp226Tyr) | gnomAD v4 |
| 13 | g.27924526A= | CA2080721317 | PDX1 | c.677A= (p.Asp226=) | |
| 13 | g.27924526A>C | CA387646360 | PDX1 | c.677A>C (p.Asp226Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.27924526A>G | CA387646362 | PDX1 | c.677A>G (p.Asp226Gly) | |
| 13 | g.27924526A>T | CA387646364 | PDX1 | c.677A>T (p.Asp226Val) | |
| 13 | g.27924527C>A | CA387646365 | PDX1 | c.678C>A (p.Asp226Glu) | |
| 13 | g.27924527C>G | CA387646367 | PDX1 | c.678C>G (p.Asp226Glu) | |
| 13 | g.27924527C>T | CA483176090 | PDX1 | c.678C>T (p.Asp226=) |