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.17346042A>C | CA338247212 | PADI4 | c.950A>C (p.Glu317Ala) n.9A>C c.764A>C (p.Glu255Ala) c.413A>C (p.Glu138Ala) c.59A>C (p.Glu20Ala) | |
| 1 | g.17346042A>G | CA338247210 | PADI4 | c.950A>G (p.Glu317Gly) n.9A>G c.764A>G (p.Glu255Gly) c.413A>G (p.Glu138Gly) c.59A>G (p.Glu20Gly) | |
| 1 | g.17346042A>T | CA338247214 | PADI4 | c.950A>T (p.Glu317Val) n.9A>T c.764A>T (p.Glu255Val) c.413A>T (p.Glu138Val) c.59A>T (p.Glu20Val) | |
| 1 | g.17346043G>A | CA416409390 | PADI4 | c.951G>A (p.Glu317=) n.10G>A c.765G>A (p.Glu255=) c.414G>A (p.Glu138=) c.60G>A (p.Glu20=) | |
| 1 | g.17346043G>C | CA338247221 | PADI4 | c.951G>C (p.Glu317Asp) n.10G>C c.765G>C (p.Glu255Asp) c.414G>C (p.Glu138Asp) c.60G>C (p.Glu20Asp) | |
| 1 | g.17346043G>T | CA338247224 | PADI4 | c.951G>T (p.Glu317Asp) n.10G>T c.765G>T (p.Glu255Asp) c.414G>T (p.Glu138Asp) c.60G>T (p.Glu20Asp) | |
| 1 | g.17346044G>A | CA338247225 | PADI4 | c.952G>A (p.Asp318Asn) n.11G>A c.766G>A (p.Asp256Asn) c.415G>A (p.Asp139Asn) c.61G>A (p.Asp21Asn) | gnomAD v4 |
| 1 | g.17346044G>C | CA338247227 | PADI4 | c.952G>C (p.Asp318His) n.11G>C c.766G>C (p.Asp256His) c.415G>C (p.Asp139His) c.61G>C (p.Asp21His) | |
| 1 | g.17346044G>T | CA338247226 | PADI4 | c.952G>T (p.Asp318Tyr) n.11G>T c.766G>T (p.Asp256Tyr) c.415G>T (p.Asp139Tyr) c.61G>T (p.Asp21Tyr) | |
| 1 | g.17346045A>C | CA338247228 | PADI4 | c.953A>C (p.Asp318Ala) n.12A>C c.767A>C (p.Asp256Ala) c.416A>C (p.Asp139Ala) c.62A>C (p.Asp21Ala) | |
| 1 | g.17346045A>G | CA338247229 | PADI4 | c.953A>G (p.Asp318Gly) n.12A>G c.767A>G (p.Asp256Gly) c.416A>G (p.Asp139Gly) c.62A>G (p.Asp21Gly) | gnomAD v4 |
| 1 | g.17346045A>T | CA338247230 | PADI4 | c.953A>T (p.Asp318Val) n.12A>T c.767A>T (p.Asp256Val) c.416A>T (p.Asp139Val) c.62A>T (p.Asp21Val) | |
| 1 | g.17346046C>A | CA338247233 | PADI4 | c.954C>A (p.Asp318Glu) n.13C>A c.768C>A (p.Asp256Glu) c.417C>A (p.Asp139Glu) c.63C>A (p.Asp21Glu) | |
| 1 | g.17346046C>G | CA338247234 | PADI4 | c.954C>G (p.Asp318Glu) n.13C>G c.768C>G (p.Asp256Glu) c.417C>G (p.Asp139Glu) c.63C>G (p.Asp21Glu) | |
| 1 | g.17346046C>T | CA416409452 | PADI4 | c.954C>T (p.Asp318=) n.13C>T c.768C>T (p.Asp256=) c.417C>T (p.Asp139=) c.63C>T (p.Asp21=) | COSMIC |
| 1 | g.17346047T>A | CA338247235 | PADI4 | c.955T>A (p.Phe319Ile) n.14T>A c.769T>A (p.Phe257Ile) c.418T>A (p.Phe140Ile) c.64T>A (p.Phe22Ile) | |
| 1 | g.17346047T>C | CA338247236 | PADI4 | c.955T>C (p.Phe319Leu) n.14T>C c.769T>C (p.Phe257Leu) c.418T>C (p.Phe140Leu) c.64T>C (p.Phe22Leu) | |
| 1 | g.17346047T>G | CA338247237 | PADI4 | c.955T>G (p.Phe319Val) n.14T>G c.769T>G (p.Phe257Val) c.418T>G (p.Phe140Val) c.64T>G (p.Phe22Val) | |
| 1 | g.17346048T>A | CA338247239 | PADI4 | c.956T>A (p.Phe319Tyr) n.15T>A c.770T>A (p.Phe257Tyr) c.419T>A (p.Phe140Tyr) c.65T>A (p.Phe22Tyr) | |
| 1 | g.17346048T>C | CA338247251 | PADI4 | c.956T>C (p.Phe319Ser) n.15T>C c.770T>C (p.Phe257Ser) c.419T>C (p.Phe140Ser) c.65T>C (p.Phe22Ser) | |
| 1 | g.17346048T>G | CA338247257 | PADI4 | c.956T>G (p.Phe319Cys) n.15T>G c.770T>G (p.Phe257Cys) c.419T>G (p.Phe140Cys) c.65T>G (p.Phe22Cys) | |
| 1 | g.17346049C>A | CA338247261 | PADI4 | c.957C>A (p.Phe319Leu) n.16C>A c.771C>A (p.Phe257Leu) c.420C>A (p.Phe140Leu) c.66C>A (p.Phe22Leu) | |
| 1 | g.17346049C>G | CA338247266 | PADI4 | c.957C>G (p.Phe319Leu) n.16C>G c.771C>G (p.Phe257Leu) c.420C>G (p.Phe140Leu) c.66C>G (p.Phe22Leu) | |
| 1 | g.17346049C>T | CA416409475 | PADI4 | c.957C>T (p.Phe319=) n.16C>T c.771C>T (p.Phe257=) c.420C>T (p.Phe140=) c.66C>T (p.Phe22=) | |
| 1 | g.17346050C>A | CA338247284 | PADI4 | c.958C>A (p.Leu320Met) n.17C>A c.772C>A (p.Leu258Met) c.421C>A (p.Leu141Met) c.67C>A (p.Leu23Met) | |
| 1 | g.17346050C>G | CA338247286 | PADI4 | c.958C>G (p.Leu320Val) n.17C>G c.772C>G (p.Leu258Val) c.421C>G (p.Leu141Val) c.67C>G (p.Leu23Val) | |
| 1 | g.17346050C>T | CA416409492 | PADI4 | c.958C>T (p.Leu320=) n.17C>T c.772C>T (p.Leu258=) c.421C>T (p.Leu141=) c.67C>T (p.Leu23=) | |
| 1 | g.17346050_17346051insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT | CA2643694040 | PADI4 | c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT (p.Leu320ArgfsTer12) n.17_18insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT c.772_773insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT (p.Leu258ArgfsTer12) c.421_422insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT (p.Leu141ArgfsTer12) c.67_68insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT (p.Leu23ArgfsTer12) | gnomAD v4 |
| 1 | g.17346051T>A | CA338247290 | PADI4 | c.959T>A (p.Leu320Gln) n.18T>A c.773T>A (p.Leu258Gln) c.422T>A (p.Leu141Gln) c.68T>A (p.Leu23Gln) | gnomAD v4 |
| 1 | g.17346051T>C | CA338247292 | PADI4 | c.959T>C (p.Leu320Pro) n.18T>C c.773T>C (p.Leu258Pro) c.422T>C (p.Leu141Pro) c.68T>C (p.Leu23Pro) | |
| 1 | g.17346051T>G | CA338247293 | PADI4 | c.959T>G (p.Leu320Arg) n.18T>G c.773T>G (p.Leu258Arg) c.422T>G (p.Leu141Arg) c.68T>G (p.Leu23Arg) | |
| 1 | g.17346052G>A | CA416409513 | PADI4 | c.960G>A (p.Leu320=) n.19G>A c.774G>A (p.Leu258=) c.423G>A (p.Leu141=) c.69G>A (p.Leu23=) | |
| 1 | g.17346052G>C | CA416409514 | PADI4 | c.960G>C (p.Leu320=) n.19G>C c.774G>C (p.Leu258=) c.423G>C (p.Leu141=) c.69G>C (p.Leu23=) | |
| 1 | g.17346052G>T | CA416409515 | PADI4 | c.960G>T (p.Leu320=) n.19G>T c.774G>T (p.Leu258=) c.423G>T (p.Leu141=) c.69G>T (p.Leu23=) | |
| 1 | g.17346053A>C | CA338247301 | PADI4 | c.961A>C (p.Lys321Gln) n.20A>C c.775A>C (p.Lys259Gln) c.424A>C (p.Lys142Gln) c.70A>C (p.Lys24Gln) | |
| 1 | g.17346053A>G | CA338247302 | PADI4 | c.961A>G (p.Lys321Glu) n.20A>G c.775A>G (p.Lys259Glu) c.424A>G (p.Lys142Glu) c.70A>G (p.Lys24Glu) | |
| 1 | g.17346053A>T | CA338247305 | PADI4 | c.961A>T (p.Lys321Ter) n.20A>T c.775A>T (p.Lys259Ter) c.424A>T (p.Lys142Ter) c.70A>T (p.Lys24Ter) | |
| 1 | g.17346054A>C | CA338247311 | PADI4 | c.962A>C (p.Lys321Thr) n.21A>C c.776A>C (p.Lys259Thr) c.425A>C (p.Lys142Thr) c.71A>C (p.Lys24Thr) | |
| 1 | g.17346054A>G | CA338247314 | PADI4 | c.962A>G (p.Lys321Arg) n.21A>G c.776A>G (p.Lys259Arg) c.425A>G (p.Lys142Arg) c.71A>G (p.Lys24Arg) | |
| 1 | g.17346054A>T | CA338247325 | PADI4 | c.962A>T (p.Lys321Met) n.21A>T c.776A>T (p.Lys259Met) c.425A>T (p.Lys142Met) c.71A>T (p.Lys24Met) | |
| 1 | g.17346055G>A | CA416409548 | PADI4 | c.963G>A (p.Lys321=) n.22G>A c.777G>A (p.Lys259=) c.426G>A (p.Lys142=) c.72G>A (p.Lys24=) | |
| 1 | g.17346055G>C | CA338247330 | PADI4 | c.963G>C (p.Lys321Asn) n.22G>C c.777G>C (p.Lys259Asn) c.426G>C (p.Lys142Asn) c.72G>C (p.Lys24Asn) | |
| 1 | g.17346055G>T | CA338247333 | PADI4 | c.963G>T (p.Lys321Asn) n.22G>T c.777G>T (p.Lys259Asn) c.426G>T (p.Lys142Asn) c.72G>T (p.Lys24Asn) | |
| 1 | g.17346056T>A | CA338247347 | PADI4 | c.964T>A (p.Ser322Thr) n.23T>A c.778T>A (p.Ser260Thr) c.427T>A (p.Ser143Thr) c.73T>A (p.Ser25Thr) | |
| 1 | g.17346056T>C | CA338247340 | PADI4 | c.964T>C (p.Ser322Pro) n.23T>C c.778T>C (p.Ser260Pro) c.427T>C (p.Ser143Pro) c.73T>C (p.Ser25Pro) | |
| 1 | g.17346056T>G | CA338247336 | PADI4 | c.964T>G (p.Ser322Ala) n.23T>G c.778T>G (p.Ser260Ala) c.427T>G (p.Ser143Ala) c.73T>G (p.Ser25Ala) | |
| 1 | g.17346057C>A | CA338247350 | PADI4 | c.965C>A (p.Ser322Ter) n.24C>A c.779C>A (p.Ser260Ter) c.428C>A (p.Ser143Ter) c.74C>A (p.Ser25Ter) | gnomAD v4 |
| 1 | g.17346057C= | CA1156197819 | PADI4 | c.965C= (p.Ser322=) n.24C= c.779C= (p.Ser260=) c.428C= (p.Ser143=) c.74C= (p.Ser25=) | |
| 1 | g.17346057C>G | CA338247348 | PADI4 | c.965C>G (p.Ser322Ter) n.24C>G c.779C>G (p.Ser260Ter) c.428C>G (p.Ser143Ter) c.74C>G (p.Ser25Ter) | |
| 1 | g.17346057C>T | CA338247349 | PADI4 | c.965C>T (p.Ser322Leu) n.24C>T c.779C>T (p.Ser260Leu) c.428C>T (p.Ser143Leu) c.74C>T (p.Ser25Leu) | dbSNP |