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.17393971C>A | CA2643700973 | PADI6 | c.1075-4C>A (n.1075-4C>A) | gnomAD v4 |
| 1 | g.17393971C= | CA1156220251 | PADI6 | c.1075-4C= (n.1075-4C=) | |
| 1 | g.17393971C>G | CA2574238274 | PADI6 | c.1075-4C>G (n.1075-4C>G) | |
| 1 | g.17393971C>T | CA521046319 | PADI6 | c.1075-4C>T (n.1075-4C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17393972C= | CA1156220255 | PADI6 | c.1075-3C= (n.1075-3C=) | |
| 1 | g.17393972C>T | CA641633 | PADI6 | c.1075-3C>T (n.1075-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17393973A>C | CA338257521 | PADI6 | c.1075-2A>C (n.1075-2A>C) | |
| 1 | g.17393973A>G | CA338257526 | PADI6 | c.1075-2A>G (n.1075-2A>G) | |
| 1 | g.17393973A>T | CA338257523 | PADI6 | c.1075-2A>T (n.1075-2A>T) | |
| 1 | g.17393974G>A | CA338257528 | PADI6 | c.1075-1G>A (n.1075-1G>A) | |
| 1 | g.17393974G>C | CA338257530 | PADI6 | c.1075-1G>C (n.1075-1G>C) | |
| 1 | g.17393974G>T | CA338257535 | PADI6 | c.1075-1G>T (n.1075-1G>T) | |
| 1 | g.17393975G>A | CA338257538 | PADI6 | c.1075G>A (p.Asp359Asn) | gnomAD v4 |
| 1 | g.17393975G>C | CA338257543 | PADI6 | c.1075G>C (p.Asp359His) | |
| 1 | g.17393975G>T | CA338257544 | PADI6 | c.1075G>T (p.Asp359Tyr) | |
| 1 | g.17393976A>C | CA338257547 | PADI6 | c.1076A>C (p.Asp359Ala) | |
| 1 | g.17393976A>G | CA338257548 | PADI6 | c.1076A>G (p.Asp359Gly) | |
| 1 | g.17393976A>T | CA338257550 | PADI6 | c.1076A>T (p.Asp359Val) | |
| 1 | g.17393977T>A | CA338257554 | PADI6 | c.1077T>A (p.Asp359Glu) | |
| 1 | g.17393977T>C | CA416402219 | PADI6 | c.1077T>C (p.Asp359=) | |
| 1 | g.17393977T>G | CA338257558 | PADI6 | c.1077T>G (p.Asp359Glu) | gnomAD v4 |
| 1 | g.17393978G>A | CA338257564 | PADI6 | c.1078G>A (p.Glu360Lys) | dbSNP |
| 1 | g.17393978G>C | CA338257569 | PADI6 | c.1078G>C (p.Glu360Gln) | |
| 1 | g.17393978G= | CA1156220264 | PADI6 | c.1078G= (p.Glu360=) | |
| 1 | g.17393978G>T | CA338257561 | PADI6 | c.1078G>T (p.Glu360Ter) | |
| 1 | g.17393979A>C | CA338257573 | PADI6 | c.1079A>C (p.Glu360Ala) | |
| 1 | g.17393979A>G | CA338257572 | PADI6 | c.1079A>G (p.Glu360Gly) | |
| 1 | g.17393979A>T | CA338257575 | PADI6 | c.1079A>T (p.Glu360Val) | |
| 1 | g.17393980G>A | CA416402226 | PADI6 | c.1080G>A (p.Glu360=) | dbSNP |
| 1 | g.17393980G>C | CA338257577 | PADI6 | c.1080G>C (p.Glu360Asp) | |
| 1 | g.17393980G= | CA1156220271 | PADI6 | c.1080G= (p.Glu360=) | |
| 1 | g.17393980G>T | CA338257579 | PADI6 | c.1080G>T (p.Glu360Asp) | |
| 1 | g.17393981A>C | CA338257581 | PADI6 | c.1081A>C (p.Met361Leu) | |
| 1 | g.17393981A>G | CA338257582 | PADI6 | c.1081A>G (p.Met361Val) | |
| 1 | g.17393981A>T | CA338257589 | PADI6 | c.1081A>T (p.Met361Leu) | gnomAD v4 |
| 1 | g.17393982T>A | CA338257592 | PADI6 | c.1082T>A (p.Met361Lys) | |
| 1 | g.17393982T>C | CA338257595 | PADI6 | c.1082T>C (p.Met361Thr) | |
| 1 | g.17393982T>G | CA338257598 | PADI6 | c.1082T>G (p.Met361Arg) | |
| 1 | g.17393983G>A | CA338257600 | PADI6 | c.1083G>A (p.Met361Ile) | gnomAD v4 |
| 1 | g.17393983G>C | CA338257603 | PADI6 | c.1083G>C (p.Met361Ile) | |
| 1 | g.17393983G>T | CA338257606 | PADI6 | c.1083G>T (p.Met361Ile) | |
| 1 | g.17393984G>A | CA338257616 | PADI6 | c.1084G>A (p.Ala362Thr) | dbSNP |
| 1 | g.17393984G>C | CA338257610 | PADI6 | c.1084G>C (p.Ala362Pro) | |
| 1 | g.17393984G= | CA1156220274 | PADI6 | c.1084G= (p.Ala362=) | |
| 1 | g.17393984G>T | CA338257613 | PADI6 | c.1084G>T (p.Ala362Ser) | |
| 1 | g.17393985C>A | CA338257621 | PADI6 | c.1085C>A (p.Ala362Asp) | |
| 1 | g.17393985C= | CA1156220276 | PADI6 | c.1085C= (p.Ala362=) | |
| 1 | g.17393985C>G | CA338257622 | PADI6 | c.1085C>G (p.Ala362Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17393985C>T | CA641634 | PADI6 | c.1085C>T (p.Ala362Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17393986C>A | CA416402240 | PADI6 | c.1086C>A (p.Ala362=) | |
| 1 | g.17393986C>G | CA416402239 | PADI6 | c.1086C>G (p.Ala362=) | |
| 1 | g.17393986C>T | CA416402238 | PADI6 | c.1086C>T (p.Ala362=) | gnomAD v4 |
| 1 | g.17393988_17393990del | CA2643700976 | PADI6 | c.1088_1090del (p.Phe363del) | gnomAD v4 |
| 1 | g.17393987T>A | CA338257626 | PADI6 | c.1087T>A (p.Phe363Ile) | |
| 1 | g.17393987T>C | CA338257629 | PADI6 | c.1087T>C (p.Phe363Leu) | |
| 1 | g.17393987T>G | CA338257630 | PADI6 | c.1087T>G (p.Phe363Val) | |
| 1 | g.17393988T>A | CA338257645 | PADI6 | c.1088T>A (p.Phe363Tyr) | |
| 1 | g.17393988T>C | CA338257646 | PADI6 | c.1088T>C (p.Phe363Ser) | |
| 1 | g.17393988T>G | CA338257647 | PADI6 | c.1088T>G (p.Phe363Cys) | |
| 1 | g.17393989C>A | CA338257648 | PADI6 | c.1089C>A (p.Phe363Leu) | |
| 1 | g.17393989C>G | CA338257651 | PADI6 | c.1089C>G (p.Phe363Leu) | |
| 1 | g.17393989C>T | CA416402247 | PADI6 | c.1089C>T (p.Phe363=) | |
| 1 | g.17393991_17393993del | CA2643700977 | PADI6 | c.1091_1093del (p.Cys364del) | gnomAD v4 |
| 1 | g.17393990T>A | CA338257661 | PADI6 | c.1090T>A (p.Cys364Ser) | |
| 1 | g.17393990T>C | CA641635 | PADI6 | c.1090T>C (p.Cys364Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17393990T>G | CA338257654 | PADI6 | c.1090T>G (p.Cys364Gly) | |
| 1 | g.17393990T= | CA1156220281 | PADI6 | c.1090T= (p.Cys364=) | |
| 1 | g.17393991G>A | CA338257664 | PADI6 | c.1091G>A (p.Cys364Tyr) | gnomAD v4 |
| 1 | g.17393991G>C | CA338257665 | PADI6 | c.1091G>C (p.Cys364Ser) | gnomAD v4 |
| 1 | g.17393991G>T | CA338257666 | PADI6 | c.1091G>T (p.Cys364Phe) | gnomAD v4 |
| 1 | g.17393992C>A | CA338257668 | PADI6 | c.1092C>A (p.Cys364Ter) | |
| 1 | g.17393992C>G | CA338257676 | PADI6 | c.1092C>G (p.Cys364Trp) | |
| 1 | g.17393992C>T | CA416402256 | PADI6 | c.1092C>T (p.Cys364=) | COSMIC |
| 1 | g.17393993T>A | CA338257693 | PADI6 | c.1093T>A (p.Tyr365Asn) | |
| 1 | g.17393993T>C | CA338257689 | PADI6 | c.1093T>C (p.Tyr365His) | gnomAD v4 |
| 1 | g.17393993T>G | CA338257691 | PADI6 | c.1093T>G (p.Tyr365Asp) | |
| 1 | g.17393993dup | CA2742649024 | PADI6 | c.1093dup (p.Tyr365LeufsTer23) | |
| 1 | g.17393994A>C | CA338257697 | PADI6 | c.1094A>C (p.Tyr365Ser) | |
| 1 | g.17393994A>G | CA338257700 | PADI6 | c.1094A>G (p.Tyr365Cys) | |
| 1 | g.17393994A>T | CA338257702 | PADI6 | c.1094A>T (p.Tyr365Phe) | |
| 1 | g.17393995C>A | CA338257706 | PADI6 | c.1095C>A (p.Tyr365Ter) | |
| 1 | g.17393995C= | CA1156220282 | PADI6 | c.1095C= (p.Tyr365=) | |
| 1 | g.17393995C>G | CA338257709 | PADI6 | c.1095C>G (p.Tyr365Ter) | |
| 1 | g.17393995C>T | CA416402259 | PADI6 | c.1095C>T (p.Tyr365=) | dbSNP gnomAD v4 |
| 1 | g.17393996A= | CA1156220284 | PADI6 | c.1096A= (p.Thr366=) | |
| 1 | g.17393996A>C | CA338257717 | PADI6 | c.1096A>C (p.Thr366Pro) | |
| 1 | g.17393996A>G | CA338257724 | PADI6 | c.1096A>G (p.Thr366Ala) | |
| 1 | g.17393996A>T | CA338257721 | PADI6 | c.1096A>T (p.Thr366Ser) | |
| 1 | g.17393997C>A | CA338257728 | PADI6 | c.1097C>A (p.Thr366Asn) | |
| 1 | g.17393997C>G | CA338257730 | PADI6 | c.1097C>G (p.Thr366Ser) | |
| 1 | g.17393997C>T | CA338257733 | PADI6 | c.1097C>T (p.Thr366Ile) | gnomAD v4 |
| 1 | g.17393997_17393999delinsCCC | CA1140557632 | PADI6 | c.1097_1099delinsCCC (p.Thr366=) | |
| 1 | g.17393999dup | CA18648243 | PADI6 | c.1099dup (p.Gln367ProfsTer21) | dbSNP |
| 1 | g.17393998C>A | CA416402268 | PADI6 | c.1098C>A (p.Thr366=) | |
| 1 | g.17393998C>G | CA416402269 | PADI6 | c.1098C>G (p.Thr366=) | gnomAD v4 |
| 1 | g.17393998C>T | CA416402270 | PADI6 | c.1098C>T (p.Thr366=) | |
| 1 | g.17393999C>A | CA338257736 | PADI6 | c.1099C>A (p.Gln367Lys) | |
| 1 | g.17393999C= | CA1156220292 | PADI6 | c.1099C= (p.Gln367=) | |
| 1 | g.17393999C>G | CA338257738 | PADI6 | c.1099C>G (p.Gln367Glu) | |
| 1 | g.17393999C>T | CA338257740 | PADI6 | c.1099C>T (p.Gln367Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17394000A= | CA1156220293 | PADI6 | c.1100A= (p.Gln367=) | |
| 1 | g.17394000A>C | CA338257742 | PADI6 | c.1100A>C (p.Gln367Pro) | |
| 1 | g.17394000A>G | CA338257747 | PADI6 | c.1100A>G (p.Gln367Arg) | dbSNP gnomAD v4 |
| 1 | g.17394000A>T | CA338257755 | PADI6 | c.1100A>T (p.Gln367Leu) | |
| 1 | g.17394001G>A | CA416402275 | PADI6 | c.1101G>A (p.Gln367=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394001G>C | CA338257758 | PADI6 | c.1101G>C (p.Gln367His) | |
| 1 | g.17394001G= | CA1156220297 | PADI6 | c.1101G= (p.Gln367=) | |
| 1 | g.17394001G>T | CA338257761 | PADI6 | c.1101G>T (p.Gln367His) | |
| 1 | g.17394002G>A | CA338257767 | PADI6 | c.1102G>A (p.Ala368Thr) | |
| 1 | g.17394002G>C | CA338257771 | PADI6 | c.1102G>C (p.Ala368Pro) | gnomAD v4 |
| 1 | g.17394002G>T | CA338257764 | PADI6 | c.1102G>T (p.Ala368Ser) | |
| 1 | g.17394003C>A | CA338257786 | PADI6 | c.1103C>A (p.Ala368Asp) | |
| 1 | g.17394003C= | CA1156220309 | PADI6 | c.1103C= (p.Ala368=) | |
| 1 | g.17394003C>G | CA338257777 | PADI6 | c.1103C>G (p.Ala368Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17394003C>T | CA338257781 | PADI6 | c.1103C>T (p.Ala368Val) | gnomAD v4 |
| 1 | g.17394004T>A | CA416402282 | PADI6 | c.1104T>A (p.Ala368=) | |
| 1 | g.17394004T>C | CA416402284 | PADI6 | c.1104T>C (p.Ala368=) | gnomAD v4 |
| 1 | g.17394004T>G | CA416402285 | PADI6 | c.1104T>G (p.Ala368=) | |
| 1 | g.17394005C>A | CA338257789 | PADI6 | c.1105C>A (p.Pro369Thr) | |
| 1 | g.17394005C>G | CA338257792 | PADI6 | c.1105C>G (p.Pro369Ala) | |
| 1 | g.17394005C>T | CA338257794 | PADI6 | c.1105C>T (p.Pro369Ser) | |
| 1 | g.17394008del | CA2574238275 | PADI6 | c.1108del (p.His370ThrfsTer6) | |
| 1 | g.17394006C>A | CA338257799 | PADI6 | c.1106C>A (p.Pro369His) | |
| 1 | g.17394006C>G | CA338257801 | PADI6 | c.1106C>G (p.Pro369Arg) | |
| 1 | g.17394006C>T | CA338257803 | PADI6 | c.1106C>T (p.Pro369Leu) | gnomAD v4 |
| 1 | g.17394007C>A | CA416402294 | PADI6 | c.1107C>A (p.Pro369=) | |
| 1 | g.17394007C= | CA1156220315 | PADI6 | c.1107C= (p.Pro369=) | |
| 1 | g.17394007C>G | CA416402293 | PADI6 | c.1107C>G (p.Pro369=) | |
| 1 | g.17394007C>T | CA416402291 | PADI6 | c.1107C>T (p.Pro369=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17394008C>A | CA338257806 | PADI6 | c.1108C>A (p.His370Asn) | |
| 1 | g.17394008C>G | CA338257808 | PADI6 | c.1108C>G (p.His370Asp) | |
| 1 | g.17394008C>T | CA338257811 | PADI6 | c.1108C>T (p.His370Tyr) | |
| 1 | g.17394009A= | CA1156220318 | PADI6 | c.1109A= (p.His370=) | |
| 1 | g.17394009A>C | CA338257816 | PADI6 | c.1109A>C (p.His370Pro) | |
| 1 | g.17394009A>G | CA338257815 | PADI6 | c.1109A>G (p.His370Arg) | dbSNP |
| 1 | g.17394009A>T | CA338257814 | PADI6 | c.1109A>T (p.His370Leu) | |
| 1 | g.17394010C>A | CA338257818 | PADI6 | c.1110C>A (p.His370Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394010C= | CA1156220319 | PADI6 | c.1110C= (p.His370=) | |
| 1 | g.17394010C>G | CA338257820 | PADI6 | c.1110C>G (p.His370Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17394010C>T | CA416402300 | PADI6 | c.1110C>T (p.His370=) | gnomAD v4 |
| 1 | g.17394011A>C | CA338257824 | PADI6 | c.1111A>C (p.Lys371Gln) | gnomAD v4 |
| 1 | g.17394011A>G | CA338257826 | PADI6 | c.1111A>G (p.Lys371Glu) | |
| 1 | g.17394011A>T | CA338257829 | PADI6 | c.1111A>T (p.Lys371Ter) | |
| 1 | g.17394012A>C | CA338257833 | PADI6 | c.1112A>C (p.Lys371Thr) | |
| 1 | g.17394012A>G | CA338257835 | PADI6 | c.1112A>G (p.Lys371Arg) | |
| 1 | g.17394012A>T | CA338257838 | PADI6 | c.1112A>T (p.Lys371Met) | |
| 1 | g.17394013G>A | CA416402307 | PADI6 | c.1113G>A (p.Lys371=) | |
| 1 | g.17394013G>C | CA338257840 | PADI6 | c.1113G>C (p.Lys371Asn) | |
| 1 | g.17394013G>T | CA338257841 | PADI6 | c.1113G>T (p.Lys371Asn) | |
| 1 | g.17394014A= | CA1144005123 | PADI6 | c.1114A= (p.Thr372=) | |
| 1 | g.17394014A>C | CA338257844 | PADI6 | c.1114A>C (p.Thr372Pro) | |
| 1 | g.17394014A>G | CA641636 | PADI6 | c.1114A>G (p.Thr372Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394014A>T | CA338257846 | PADI6 | c.1114A>T (p.Thr372Ser) | |
| 1 | g.17394015C>A | CA338257851 | PADI6 | c.1115C>A (p.Thr372Lys) | |
| 1 | g.17394015C= | CA1156220325 | PADI6 | c.1115C= (p.Thr372=) | |
| 1 | g.17394015C>G | CA338257852 | PADI6 | c.1115C>G (p.Thr372Arg) | |
| 1 | g.17394015C>T | CA338257849 | PADI6 | c.1115C>T (p.Thr372Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17394016A= | CA1156220327 | PADI6 | c.1116A= (p.Thr372=) | |
| 1 | g.17394016A>C | CA416402313 | PADI6 | c.1116A>C (p.Thr372=) | |
| 1 | g.17394016A>G | CA641637 | PADI6 | c.1116A>G (p.Thr372=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394016A>T | CA416402315 | PADI6 | c.1116A>T (p.Thr372=) | |
| 1 | g.17394017A= | CA1156220330 | PADI6 | c.1117A= (p.Thr373=) | |
| 1 | g.17394017A>C | CA338257855 | PADI6 | c.1117A>C (p.Thr373Pro) | |
| 1 | g.17394017A>G | CA18648261 | PADI6 | c.1117A>G (p.Thr373Ala) | dbSNP |
| 1 | g.17394017A>T | CA338257858 | PADI6 | c.1117A>T (p.Thr373Ser) | |
| 1 | g.17394018C>A | CA338257859 | PADI6 | c.1118C>A (p.Thr373Lys) | |
| 1 | g.17394018C= | CA1156220333 | PADI6 | c.1118C= (p.Thr373=) | |
| 1 | g.17394018C>G | CA338257861 | PADI6 | c.1118C>G (p.Thr373Arg) | |
| 1 | g.17394018C>T | CA641638 | PADI6 | c.1118C>T (p.Thr373Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394019G>A | CA641639 | PADI6 | c.1119G>A (p.Thr373=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394019G>C | CA416402323 | PADI6 | c.1119G>C (p.Thr373=) | |
| 1 | g.17394019G= | CA1143510223 | PADI6 | c.1119G= (p.Thr373=) | |
| 1 | g.17394019G>T | CA416402325 | PADI6 | c.1119G>T (p.Thr373=) | |
| 1 | g.17394020T>A | CA338257871 | PADI6 | c.1120T>A (p.Ser374Thr) | |
| 1 | g.17394020T>C | CA338257874 | PADI6 | c.1120T>C (p.Ser374Pro) | |
| 1 | g.17394020T>G | CA338257877 | PADI6 | c.1120T>G (p.Ser374Ala) | |
| 1 | g.17394021C>A | CA338257878 | PADI6 | c.1121C>A (p.Ser374Tyr) | |
| 1 | g.17394021C= | CA1156220338 | PADI6 | c.1121C= (p.Ser374=) | |
| 1 | g.17394021C>G | CA338257879 | PADI6 | c.1121C>G (p.Ser374Cys) | |
| 1 | g.17394021C>T | CA338257880 | PADI6 | c.1121C>T (p.Ser374Phe) | dbSNP gnomAD v4 |
| 1 | g.17394022C>A | CA416402334 | PADI6 | c.1122C>A (p.Ser374=) | |
| 1 | g.17394022C>G | CA416402330 | PADI6 | c.1122C>G (p.Ser374=) | gnomAD v4 |
| 1 | g.17394022C>T | CA416402332 | PADI6 | c.1122C>T (p.Ser374=) | |
| 1 | g.17394023T>A | CA338257883 | PADI6 | c.1123T>A (p.Leu375Met) | |
| 1 | g.17394023T>C | CA416402336 | PADI6 | c.1123T>C (p.Leu375=) | gnomAD v4 |
| 1 | g.17394023T>G | CA338257881 | PADI6 | c.1123T>G (p.Leu375Val) | |
| 1 | g.17394024dup | CA2586966137 | PADI6 | c.1124dup (p.Leu375PhefsTer13) | |
| 1 | g.17394024T>A | CA338257885 | PADI6 | c.1124T>A (p.Leu375Ter) | |
| 1 | g.17394024T>C | CA338257887 | PADI6 | c.1124T>C (p.Leu375Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17394024T>G | CA338257890 | PADI6 | c.1124T>G (p.Leu375Trp) | |
| 1 | g.17394024T= | CA1156220340 | PADI6 | c.1124T= (p.Leu375=) | |
| 1 | g.17394025G>A | CA416402341 | PADI6 | c.1125G>A (p.Leu375=) | |
| 1 | g.17394025G>C | CA338257895 | PADI6 | c.1125G>C (p.Leu375Phe) | |
| 1 | g.17394025G>T | CA338257898 | PADI6 | c.1125G>T (p.Leu375Phe) | |
| 1 | g.17394026A= | CA1156220343 | PADI6 | c.1126A= (p.Ile376=) | |
| 1 | g.17394026A>C | CA641640 | PADI6 | c.1126A>C (p.Ile376Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394026A>G | CA338257907 | PADI6 | c.1126A>G (p.Ile376Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17394026A>T | CA338257905 | PADI6 | c.1126A>T (p.Ile376Phe) | gnomAD v4 |
| 1 | g.17394026dup | CA2573130916 | PADI6 | c.1126dup (p.Ile376AsnfsTer12) | ClinVar dbSNP |
| 1 | g.17394027T>A | CA338257910 | PADI6 | c.1127T>A (p.Ile376Asn) | |
| 1 | g.17394027T>C | CA338257911 | PADI6 | c.1127T>C (p.Ile376Thr) | |
| 1 | g.17394027T>G | CA338257914 | PADI6 | c.1127T>G (p.Ile376Ser) | |
| 1 | g.17394028C>A | CA416402347 | PADI6 | c.1128C>A (p.Ile376=) | |
| 1 | g.17394028C= | CA1156220347 | PADI6 | c.1128C= (p.Ile376=) | |
| 1 | g.17394028C>G | CA338257916 | PADI6 | c.1128C>G (p.Ile376Met) | dbSNP gnomAD v4 |
| 1 | g.17394028C>T | CA416402349 | PADI6 | c.1128C>T (p.Ile376=) | |
| 1 | g.17394029C>A | CA338257920 | PADI6 | c.1129C>A (p.Leu377Ile) | |
| 1 | g.17394029C>G | CA338257923 | PADI6 | c.1129C>G (p.Leu377Val) | |
| 1 | g.17394029C>T | CA338257924 | PADI6 | c.1129C>T (p.Leu377Phe) | |
| 1 | g.17394030T>A | CA338257929 | PADI6 | c.1130T>A (p.Leu377His) | |
| 1 | g.17394030T>C | CA338257930 | PADI6 | c.1130T>C (p.Leu377Pro) | |
| 1 | g.17394030T>G | CA338257928 | PADI6 | c.1130T>G (p.Leu377Arg) | |
| 1 | g.17394031C>A | CA416402356 | PADI6 | c.1131C>A (p.Leu377=) | |
| 1 | g.17394031C= | CA1156220353 | PADI6 | c.1131C= (p.Leu377=) | |
| 1 | g.17394031C>G | CA416402358 | PADI6 | c.1131C>G (p.Leu377=) | |
| 1 | g.17394031C>T | CA641641 | PADI6 | c.1131C>T (p.Leu377=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394032G>A | CA641642 | PADI6 | c.1132G>A (p.Asp378Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394032G>C | CA338257938 | PADI6 | c.1132G>C (p.Asp378His) | |
| 1 | g.17394032G= | CA1156220356 | PADI6 | c.1132G= (p.Asp378=) | |
| 1 | g.17394032G>T | CA338257935 | PADI6 | c.1132G>T (p.Asp378Tyr) | |
| 1 | g.17394033A>C | CA338257940 | PADI6 | c.1133A>C (p.Asp378Ala) | |
| 1 | g.17394033A>G | CA338257942 | PADI6 | c.1133A>G (p.Asp378Gly) | gnomAD v4 |
| 1 | g.17394033A>T | CA338257944 | PADI6 | c.1133A>T (p.Asp378Val) | |
| 1 | g.17394034C>A | CA338257948 | PADI6 | c.1134C>A (p.Asp378Glu) | |
| 1 | g.17394034C>G | CA338257950 | PADI6 | c.1134C>G (p.Asp378Glu) | |
| 1 | g.17394034C>T | CA416402370 | PADI6 | c.1134C>T (p.Asp378=) | |
| 1 | g.17394035A>C | CA338257960 | PADI6 | c.1135A>C (p.Thr379Pro) | gnomAD v4 |
| 1 | g.17394035A>G | CA338257957 | PADI6 | c.1135A>G (p.Thr379Ala) | |
| 1 | g.17394035A>T | CA338257954 | PADI6 | c.1135A>T (p.Thr379Ser) | |
| 1 | g.17394036C>A | CA338257964 | PADI6 | c.1136C>A (p.Thr379Lys) | |
| 1 | g.17394036C= | CA1156220359 | PADI6 | c.1136C= (p.Thr379=) | |
| 1 | g.17394036C>G | CA338257966 | PADI6 | c.1136C>G (p.Thr379Arg) | |
| 1 | g.17394036C>T | CA641643 | PADI6 | c.1136C>T (p.Thr379Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17394037A= | CA1156220363 | PADI6 | c.1137A= (p.Thr379=) | |
| 1 | g.17394037A>C | CA416402373 | PADI6 | c.1137A>C (p.Thr379=) | dbSNP |
| 1 | g.17394037A>G | CA416402376 | PADI6 | c.1137A>G (p.Thr379=) | dbSNP |
| 1 | g.17394037A>T | CA416402377 | PADI6 | c.1137A>T (p.Thr379=) | |
| 1 | g.17394038C>A | CA338257971 | PADI6 | c.1138C>A (p.Pro380Thr) | |
| 1 | g.17394038C= | CA1148233150 | PADI6 | c.1138C= (p.Pro380=) | |
| 1 | g.17394038C>G | CA338257974 | PADI6 | c.1138C>G (p.Pro380Ala) | |
| 1 | g.17394038C>T | CA641644 | PADI6 | c.1138C>T (p.Pro380Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394039C>A | CA338257979 | PADI6 | c.1139C>A (p.Pro380His) | |
| 1 | g.17394039C= | CA1156220373 | PADI6 | c.1139C= (p.Pro380=) | |
| 1 | g.17394039C>G | CA641645 | PADI6 | c.1139C>G (p.Pro380Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394039C>T | CA338257982 | PADI6 | c.1139C>T (p.Pro380Leu) | |
| 1 | g.17394040T>A | CA416402382 | PADI6 | c.1140T>A (p.Pro380=) | |
| 1 | g.17394040T>C | CA416402383 | PADI6 | c.1140T>C (p.Pro380=) | |
| 1 | g.17394040T>G | CA416402384 | PADI6 | c.1140T>G (p.Pro380=) | |
| 1 | g.17394041C>A | CA338257986 | PADI6 | c.1141C>A (p.Gln381Lys) | |
| 1 | g.17394041C= | CA1156220382 | PADI6 | c.1141C= (p.Gln381=) | |
| 1 | g.17394041C>G | CA338257990 | PADI6 | c.1141C>G (p.Gln381Glu) | dbSNP |
| 1 | g.17394041C>T | CA16042251 | PADI6 | c.1141C>T (p.Gln381Ter) | ClinVar dbSNP |
| 1 | g.17394042A= | CA1156220392 | PADI6 | c.1142A= (p.Gln381=) | |
| 1 | g.17394042A>C | CA338257995 | PADI6 | c.1142A>C (p.Gln381Pro) | |
| 1 | g.17394042A>G | CA641646 | PADI6 | c.1142A>G (p.Gln381Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394042A>T | CA338257999 | PADI6 | c.1142A>T (p.Gln381Leu) | |
| 1 | g.17394044_17394073dup | CA521046332 | PADI6 | c.1144_1173dup (p.Lys391_Tyr392insAlaAlaAspLeuAspGluPheProMetLys) | dbSNP gnomAD v2 |
| 1 | g.17394043G>A | CA416402400 | PADI6 | c.1143G>A (p.Gln381=) | |
| 1 | g.17394043G>C | CA338258010 | PADI6 | c.1143G>C (p.Gln381His) | |
| 1 | g.17394043G>T | CA338258013 | PADI6 | c.1143G>T (p.Gln381His) | |
| 1 | g.17394044G>A | CA338258018 | PADI6 | c.1144G>A (p.Ala382Thr) | |
| 1 | g.17394044G>C | CA338258019 | PADI6 | c.1144G>C (p.Ala382Pro) | dbSNP |
| 1 | g.17394044G= | CA1156220396 | PADI6 | c.1144G= (p.Ala382=) | |
| 1 | g.17394044G>T | CA338258023 | PADI6 | c.1144G>T (p.Ala382Ser) | COSMIC |
| 1 | g.17394045C>A | CA338258028 | PADI6 | c.1145C>A (p.Ala382Asp) | |
| 1 | g.17394045C>G | CA338258041 | PADI6 | c.1145C>G (p.Ala382Gly) | |
| 1 | g.17394045C>T | CA338258040 | PADI6 | c.1145C>T (p.Ala382Val) | |
| 1 | g.17394046C>A | CA416402413 | PADI6 | c.1146C>A (p.Ala382=) | |
| 1 | g.17394046C= | CA1141246962 | PADI6 | c.1146C= (p.Ala382=) | |
| 1 | g.17394046C>G | CA416402414 | PADI6 | c.1146C>G (p.Ala382=) | gnomAD v3 gnomAD v4 |
| 1 | g.17394046C>T | CA641647 | PADI6 | c.1146C>T (p.Ala382=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394047G>A | CA641648 | PADI6 | c.1147G>A (p.Ala383Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394047G>C | CA338258052 | PADI6 | c.1147G>C (p.Ala383Pro) | |
| 1 | g.17394047G= | CA1156220401 | PADI6 | c.1147G= (p.Ala383=) | |
| 1 | g.17394047G>T | CA338258055 | PADI6 | c.1147G>T (p.Ala383Ser) | |
| 1 | g.17394048C>A | CA338258058 | PADI6 | c.1148C>A (p.Ala383Asp) | |
| 1 | g.17394048C>G | CA338258060 | PADI6 | c.1148C>G (p.Ala383Gly) | |
| 1 | g.17394048C>T | CA338258065 | PADI6 | c.1148C>T (p.Ala383Val) | gnomAD v4 |
| 1 | g.17394049C>A | CA641650 | PADI6 | c.1149C>A (p.Ala383=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394049C= | CA1140335698 | PADI6 | c.1149C= (p.Ala383=) | |
| 1 | g.17394049C>G | CA416402420 | PADI6 | c.1149C>G (p.Ala383=) | |
| 1 | g.17394049C>T | CA641649 | PADI6 | c.1149C>T (p.Ala383=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394050G>A | CA641651 | PADI6 | c.1150G>A (p.Asp384Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394050G>C | CA338258073 | PADI6 | c.1150G>C (p.Asp384His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17394050G= | CA1146748562 | PADI6 | c.1150G= (p.Asp384=) | |
| 1 | g.17394050G>T | CA641652 | PADI6 | c.1150G>T (p.Asp384Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394051A>C | CA338258081 | PADI6 | c.1151A>C (p.Asp384Ala) | |
| 1 | g.17394051A>G | CA338258079 | PADI6 | c.1151A>G (p.Asp384Gly) | |
| 1 | g.17394051A>T | CA338258078 | PADI6 | c.1151A>T (p.Asp384Val) | |
| 1 | g.17394052T>A | CA338258083 | PADI6 | c.1152T>A (p.Asp384Glu) | |
| 1 | g.17394052T>C | CA416402431 | PADI6 | c.1152T>C (p.Asp384=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17394052T>G | CA338258086 | PADI6 | c.1152T>G (p.Asp384Glu) | |
| 1 | g.17394052T= | CA1156220414 | PADI6 | c.1152T= (p.Asp384=) | |
| 1 | g.17394053C>A | CA338258087 | PADI6 | c.1153C>A (p.Leu385Ile) | |
| 1 | g.17394053C= | CA1156220419 | PADI6 | c.1153C= (p.Leu385=) | |
| 1 | g.17394053C>G | CA338258088 | PADI6 | c.1153C>G (p.Leu385Val) | |
| 1 | g.17394053C>T | CA338258089 | PADI6 | c.1153C>T (p.Leu385Phe) | dbSNP |
| 1 | g.17394054T>A | CA338258090 | PADI6 | c.1154T>A (p.Leu385His) | gnomAD v4 |
| 1 | g.17394054T>C | CA338258091 | PADI6 | c.1154T>C (p.Leu385Pro) | dbSNP |
| 1 | g.17394054T>G | CA338258092 | PADI6 | c.1154T>G (p.Leu385Arg) | |
| 1 | g.17394054T= | CA1156220441 | PADI6 | c.1154T= (p.Leu385=) | |
| 1 | g.17394055C>A | CA416402435 | PADI6 | c.1155C>A (p.Leu385=) | |
| 1 | g.17394055C= | CA1156220453 | PADI6 | c.1155C= (p.Leu385=) | |
| 1 | g.17394055C>G | CA416402437 | PADI6 | c.1155C>G (p.Leu385=) | |
| 1 | g.17394055C>T | CA641653 | PADI6 | c.1155C>T (p.Leu385=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394056G>A | CA641654 | PADI6 | c.1156G>A (p.Asp386Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394056G>C | CA338258093 | PADI6 | c.1156G>C (p.Asp386His) | gnomAD v4 |
| 1 | g.17394056G= | CA1156220456 | PADI6 | c.1156G= (p.Asp386=) | |
| 1 | g.17394056G>T | CA338258094 | PADI6 | c.1156G>T (p.Asp386Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394056_17394057insT | CA891294295 | PADI6 | c.1156_1157insT (p.Asp386ValfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17394057A= | CA1156220458 | PADI6 | c.1157A= (p.Asp386=) | |
| 1 | g.17394057A>C | CA338258096 | PADI6 | c.1157A>C (p.Asp386Ala) | |
| 1 | g.17394057A>G | CA338258097 | PADI6 | c.1157A>G (p.Asp386Gly) | |
| 1 | g.17394057A>T | CA338258095 | PADI6 | c.1157A>T (p.Asp386Val) | |
| 1 | g.17394058T>A | CA641655 | PADI6 | c.1158T>A (p.Asp386Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394058T>C | CA416402443 | PADI6 | c.1158T>C (p.Asp386=) | |
| 1 | g.17394058T>G | CA338258098 | PADI6 | c.1158T>G (p.Asp386Glu) | gnomAD v4 |
| 1 | g.17394058T= | CA1156220464 | PADI6 | c.1158T= (p.Asp386=) | |
| 1 | g.17394059_17394062dup | CA521046337 | PADI6 | c.1159_1162dup (p.Phe388Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17394059G>A | CA338258099 | PADI6 | c.1159G>A (p.Glu387Lys) | |
| 1 | g.17394059G>C | CA338258100 | PADI6 | c.1159G>C (p.Glu387Gln) | |
| 1 | g.17394059G>T | CA338258101 | PADI6 | c.1159G>T (p.Glu387Ter) | |
| 1 | g.17394060A>C | CA338258102 | PADI6 | c.1160A>C (p.Glu387Ala) | |
| 1 | g.17394060A>G | CA338258103 | PADI6 | c.1160A>G (p.Glu387Gly) | |
| 1 | g.17394060A>T | CA338258104 | PADI6 | c.1160A>T (p.Glu387Val) | |
| 1 | g.17394060_17394062dup | CA2643700992 | PADI6 | c.1160_1162dup (p.Phe388Ter) | gnomAD v4 |
| 1 | g.17394061G>A | CA641656 | PADI6 | c.1161G>A (p.Glu387=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17394061G>C | CA338258105 | PADI6 | c.1161G>C (p.Glu387Asp) | |
| 1 | g.17394061G= | CA1146531026 | PADI6 | c.1161G= (p.Glu387=) | |
| 1 | g.17394061G>T | CA338258106 | PADI6 | c.1161G>T (p.Glu387Asp) | |
| 1 | g.17394062T>A | CA338258107 | PADI6 | c.1162T>A (p.Phe388Ile) | gnomAD v4 |
| 1 | g.17394062T>C | CA338258108 | PADI6 | c.1162T>C (p.Phe388Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17394062T>G | CA338258109 | PADI6 | c.1162T>G (p.Phe388Val) | dbSNP gnomAD v4 |
| 1 | g.17394062T= | CA1156220473 | PADI6 | c.1162T= (p.Phe388=) | |
| 1 | g.17394063T>A | CA338258110 | PADI6 | c.1163T>A (p.Phe388Tyr) | |
| 1 | g.17394063T>C | CA338258112 | PADI6 | c.1163T>C (p.Phe388Ser) | |
| 1 | g.17394063T>G | CA338258111 | PADI6 | c.1163T>G (p.Phe388Cys) | |
| 1 | g.17394064C>A | CA338258113 | PADI6 | c.1164C>A (p.Phe388Leu) | |
| 1 | g.17394064C>G | CA338258114 | PADI6 | c.1164C>G (p.Phe388Leu) | |
| 1 | g.17394064C>T | CA416402459 | PADI6 | c.1164C>T (p.Phe388=) | |
| 1 | g.17394065C>A | CA338258115 | PADI6 | c.1165C>A (p.Pro389Thr) | |
| 1 | g.17394065C= | CA1156220482 | PADI6 | c.1165C= (p.Pro389=) | |
| 1 | g.17394065C>G | CA641657 | PADI6 | c.1165C>G (p.Pro389Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394065C>T | CA338258116 | PADI6 | c.1165C>T (p.Pro389Ser) | dbSNP |
| 1 | g.17394066C>A | CA338258117 | PADI6 | c.1166C>A (p.Pro389His) | |
| 1 | g.17394066C= | CA1156220486 | PADI6 | c.1166C= (p.Pro389=) | |
| 1 | g.17394066C>G | CA338258118 | PADI6 | c.1166C>G (p.Pro389Arg) | |
| 1 | g.17394066C>T | CA338258119 | PADI6 | c.1166C>T (p.Pro389Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17394067C>A | CA416402467 | PADI6 | c.1167C>A (p.Pro389=) | |
| 1 | g.17394067C= | CA1156220493 | PADI6 | c.1167C= (p.Pro389=) | |
| 1 | g.17394067C>G | CA416402469 | PADI6 | c.1167C>G (p.Pro389=) | |
| 1 | g.17394067C>T | CA416402471 | PADI6 | c.1167C>T (p.Pro389=) | dbSNP gnomAD v4 |
| 1 | g.17394068A= | CA1156220500 | PADI6 | c.1168A= (p.Met390=) | |
| 1 | g.17394068A>C | CA338258120 | PADI6 | c.1168A>C (p.Met390Leu) | |
| 1 | g.17394068A>G | CA641658 | PADI6 | c.1168A>G (p.Met390Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17394068A>T | CA338258121 | PADI6 | c.1168A>T (p.Met390Leu) | |
| 1 | g.17394069T>A | CA338258123 | PADI6 | c.1169T>A (p.Met390Lys) | |
| 1 | g.17394069T>C | CA338258124 | PADI6 | c.1169T>C (p.Met390Thr) | gnomAD v4 |
| 1 | g.17394069T>G | CA338258122 | PADI6 | c.1169T>G (p.Met390Arg) | |
| 1 | g.17394070G>A | CA338258125 | PADI6 | c.1170G>A (p.Met390Ile) | |
| 1 | g.17394070G>C | CA338258126 | PADI6 | c.1170G>C (p.Met390Ile) | |
| 1 | g.17394070G>T | CA338258127 | PADI6 | c.1170G>T (p.Met390Ile) | gnomAD v4 |
| 1 | g.17394071A>C | CA338258128 | PADI6 | c.1171A>C (p.Lys391Gln) | |
| 1 | g.17394071A>G | CA338258129 | PADI6 | c.1171A>G (p.Lys391Glu) | |
| 1 | g.17394071A>T | CA338258130 | PADI6 | c.1171A>T (p.Lys391Ter) |