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.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 |
| 1 | g.17346058A= | CA1156197825 | PADI4 | c.966A= (p.Ser322=) n.25A= c.780A= (p.Ser260=) c.429A= (p.Ser143=) c.75A= (p.Ser25=) | |
| 1 | g.17346058A>C | CA416409563 | PADI4 | c.966A>C (p.Ser322=) n.25A>C c.780A>C (p.Ser260=) c.429A>C (p.Ser143=) c.75A>C (p.Ser25=) | |
| 1 | g.17346058A>G | CA416409570 | PADI4 | c.966A>G (p.Ser322=) n.25A>G c.780A>G (p.Ser260=) c.429A>G (p.Ser143=) c.75A>G (p.Ser25=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17346058A>T | CA416409572 | PADI4 | c.966A>T (p.Ser322=) n.25A>T c.780A>T (p.Ser260=) c.429A>T (p.Ser143=) c.75A>T (p.Ser25=) | |
| 1 | g.17346059G>A | CA338247352 | PADI4 | c.967G>A (p.Val323Met) n.26G>A c.781G>A (p.Val261Met) c.430G>A (p.Val144Met) c.76G>A (p.Val26Met) | |
| 1 | g.17346059G>C | CA338247360 | PADI4 | c.967G>C (p.Val323Leu) n.26G>C c.781G>C (p.Val261Leu) c.430G>C (p.Val144Leu) c.76G>C (p.Val26Leu) | |
| 1 | g.17346059G>T | CA338247383 | PADI4 | c.967G>T (p.Val323Leu) n.26G>T c.781G>T (p.Val261Leu) c.430G>T (p.Val144Leu) c.76G>T (p.Val26Leu) | |
| 1 | g.17346060T>A | CA338247411 | PADI4 | c.968T>A (p.Val323Glu) n.27T>A c.782T>A (p.Val261Glu) c.431T>A (p.Val144Glu) c.77T>A (p.Val26Glu) | |
| 1 | g.17346060T>C | CA338247394 | PADI4 | c.968T>C (p.Val323Ala) n.27T>C c.782T>C (p.Val261Ala) c.431T>C (p.Val144Ala) c.77T>C (p.Val26Ala) | |
| 1 | g.17346060T>G | CA338247387 | PADI4 | c.968T>G (p.Val323Gly) n.27T>G c.782T>G (p.Val261Gly) c.431T>G (p.Val144Gly) c.77T>G (p.Val26Gly) | |
| 1 | g.17346061G>A | CA416409597 | PADI4 | c.969G>A (p.Val323=) n.28G>A c.783G>A (p.Val261=) c.432G>A (p.Val144=) c.78G>A (p.Val26=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17346061G>C | CA416409598 | PADI4 | c.969G>C (p.Val323=) n.28G>C c.783G>C (p.Val261=) c.432G>C (p.Val144=) c.78G>C (p.Val26=) | |
| 1 | g.17346061G= | CA1156197827 | PADI4 | c.969G= (p.Val323=) n.28G= c.783G= (p.Val261=) c.432G= (p.Val144=) c.78G= (p.Val26=) | |
| 1 | g.17346061G>T | CA416409600 | PADI4 | c.969G>T (p.Val323=) n.28G>T c.783G>T (p.Val261=) c.432G>T (p.Val144=) c.78G>T (p.Val26=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17346062A>C | CA338247426 | PADI4 | c.970A>C (p.Thr324Pro) n.29A>C c.784A>C (p.Thr262Pro) c.433A>C (p.Thr145Pro) c.79A>C (p.Thr27Pro) | |
| 1 | g.17346062A>G | CA338247436 | PADI4 | c.970A>G (p.Thr324Ala) n.29A>G c.784A>G (p.Thr262Ala) c.433A>G (p.Thr145Ala) c.79A>G (p.Thr27Ala) | |
| 1 | g.17346062A>T | CA338247439 | PADI4 | c.970A>T (p.Thr324Ser) n.29A>T c.784A>T (p.Thr262Ser) c.433A>T (p.Thr145Ser) c.79A>T (p.Thr27Ser) | |
| 1 | g.17346063C>A | CA640735 | PADI4 | c.971C>A (p.Thr324Asn) n.30C>A c.785C>A (p.Thr262Asn) c.434C>A (p.Thr145Asn) c.80C>A (p.Thr27Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17346063C= | CA1156197831 | PADI4 | c.971C= (p.Thr324=) n.30C= c.785C= (p.Thr262=) c.434C= (p.Thr145=) c.80C= (p.Thr27=) | |
| 1 | g.17346063C>G | CA338247450 | PADI4 | c.971C>G (p.Thr324Ser) n.30C>G c.785C>G (p.Thr262Ser) c.434C>G (p.Thr145Ser) c.80C>G (p.Thr27Ser) | gnomAD v4 |
| 1 | g.17346063C>T | CA338247452 | PADI4 | c.971C>T (p.Thr324Ile) n.30C>T c.785C>T (p.Thr262Ile) c.434C>T (p.Thr145Ile) c.80C>T (p.Thr27Ile) | |
| 1 | g.17346064T>A | CA416409624 | PADI4 | c.972T>A (p.Thr324=) n.31T>A c.786T>A (p.Thr262=) c.435T>A (p.Thr145=) c.81T>A (p.Thr27=) | |
| 1 | g.17346064T>C | CA416409627 | PADI4 | c.972T>C (p.Thr324=) n.31T>C c.786T>C (p.Thr262=) c.435T>C (p.Thr145=) c.81T>C (p.Thr27=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17346064T>G | CA416409623 | PADI4 | c.972T>G (p.Thr324=) n.31T>G c.786T>G (p.Thr262=) c.435T>G (p.Thr145=) c.81T>G (p.Thr27=) | |
| 1 | g.17346065A>C | CA338247455 | PADI4 | c.973A>C (p.Thr325Pro) n.32A>C c.787A>C (p.Thr263Pro) c.436A>C (p.Thr146Pro) c.82A>C (p.Thr28Pro) | |
| 1 | g.17346065A>G | CA338247457 | PADI4 | c.973A>G (p.Thr325Ala) n.32A>G c.787A>G (p.Thr263Ala) c.436A>G (p.Thr146Ala) c.82A>G (p.Thr28Ala) | |
| 1 | g.17346065A>T | CA338247456 | PADI4 | c.973A>T (p.Thr325Ser) n.32A>T c.787A>T (p.Thr263Ser) c.436A>T (p.Thr146Ser) c.82A>T (p.Thr28Ser) | |
| 1 | g.17346066C>A | CA338247459 | PADI4 | c.974C>A (p.Thr325Asn) n.33C>A c.788C>A (p.Thr263Asn) c.437C>A (p.Thr146Asn) c.83C>A (p.Thr28Asn) | |
| 1 | g.17346066C>G | CA338247465 | PADI4 | c.974C>G (p.Thr325Ser) n.33C>G c.788C>G (p.Thr263Ser) c.437C>G (p.Thr146Ser) c.83C>G (p.Thr28Ser) | |
| 1 | g.17346066C>T | CA338247468 | PADI4 | c.974C>T (p.Thr325Ile) n.33C>T c.788C>T (p.Thr263Ile) c.437C>T (p.Thr146Ile) c.83C>T (p.Thr28Ile) | |
| 1 | g.17346067T>A | CA416409641 | PADI4 | c.975T>A (p.Thr325=) n.34T>A c.789T>A (p.Thr263=) c.438T>A (p.Thr146=) c.84T>A (p.Thr28=) |