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.20618479A>C | CA338848568 | CDA | c.352A>C (p.Thr118Pro) n.338A>C | |
| 1 | g.20618479A>G | CA338848564 | CDA | c.352A>G (p.Thr118Ala) n.338A>G | |
| 1 | g.20618479A>T | CA338848562 | CDA | c.352A>T (p.Thr118Ser) n.338A>T | |
| 1 | g.20618479_20618483del | CA2574249219 | CDA | c.352_356del (p.Thr118AlafsTer21) n.338_342del | |
| 1 | g.20618480C>A | CA338848574 | CDA | c.353C>A (p.Thr118Asn) n.339C>A | dbSNP gnomAD v4 |
| 1 | g.20618480C= | CA1157639758 | CDA | c.353C= (p.Thr118=) n.339C= | |
| 1 | g.20618480C>G | CA338848576 | CDA | c.353C>G (p.Thr118Ser) n.339C>G | |
| 1 | g.20618480C>T | CA338848577 | CDA | c.353C>T (p.Thr118Ile) n.339C>T | gnomAD v4 COSMIC |
| 1 | g.20618481C>A | CA416488580 | CDA | c.354C>A (p.Thr118=) n.340C>A | |
| 1 | g.20618481C>G | CA416488581 | CDA | c.354C>G (p.Thr118=) n.340C>G | |
| 1 | g.20618481C>T | CA416488582 | CDA | c.354C>T (p.Thr118=) n.340C>T | |
| 1 | g.20618482A>C | CA338848579 | CDA | c.355A>C (p.Lys119Gln) n.341A>C | |
| 1 | g.20618482A>G | CA338848581 | CDA | c.355A>G (p.Lys119Glu) n.341A>G | |
| 1 | g.20618482A>T | CA338848584 | CDA | c.355A>T (p.Lys119Ter) n.341A>T | |
| 1 | g.20618483A>C | CA338848587 | CDA | c.356A>C (p.Lys119Thr) n.342A>C | |
| 1 | g.20618483A>G | CA338848589 | CDA | c.356A>G (p.Lys119Arg) n.342A>G | |
| 1 | g.20618483A>T | CA338848590 | CDA | c.356A>T (p.Lys119Met) n.342A>T | |
| 1 | g.20618484G>A | CA416488584 | CDA | c.357G>A (p.Lys119=) n.343G>A | |
| 1 | g.20618484G>C | CA338848594 | CDA | c.357G>C (p.Lys119Asn) n.343G>C | |
| 1 | g.20618484G>T | CA338848600 | CDA | c.357G>T (p.Lys119Asn) n.343G>T | COSMIC |
| 1 | g.20618485C>A | CA338848608 | CDA | c.358C>A (p.Pro120Thr) n.344C>A | |
| 1 | g.20618485C= | CA1157639762 | CDA | c.358C= (p.Pro120=) n.344C= | |
| 1 | g.20618485C>G | CA338848606 | CDA | c.358C>G (p.Pro120Ala) n.344C>G | |
| 1 | g.20618485C>T | CA338848604 | CDA | c.358C>T (p.Pro120Ser) n.344C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20618486C>A | CA338848609 | CDA | c.359C>A (p.Pro120Gln) n.345C>A | gnomAD v4 |
| 1 | g.20618486C= | CA1157639768 | CDA | c.359C= (p.Pro120=) n.345C= | |
| 1 | g.20618486C>G | CA338848610 | CDA | c.359C>G (p.Pro120Arg) n.345C>G | dbSNP gnomAD v4 |
| 1 | g.20618486C>T | CA338848611 | CDA | c.359C>T (p.Pro120Leu) n.345C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20618487G>A | CA660309 | CDA | c.360G>A (p.Pro120=) n.346G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.20618487G>C | CA416488588 | CDA | c.360G>C (p.Pro120=) n.346G>C | |
| 1 | g.20618487G= | CA1157639779 | CDA | c.360G= (p.Pro120=) n.346G= | |
| 1 | g.20618487G>T | CA416488590 | CDA | c.360G>T (p.Pro120=) n.346G>T | |
| 1 | g.20618488G>A | CA338848614 | CDA | c.361G>A (p.Asp121Asn) n.347G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20618488G>C | CA338848623 | CDA | c.361G>C (p.Asp121His) n.347G>C | gnomAD v4 |
| 1 | g.20618488G= | CA1157639783 | CDA | c.361G= (p.Asp121=) n.347G= | |
| 1 | g.20618488G>T | CA338848627 | CDA | c.361G>T (p.Asp121Tyr) n.347G>T | |
| 1 | g.20618489A= | CA1143780843 | CDA | c.362A= (p.Asp121=) n.348A= | |
| 1 | g.20618489A>C | CA338848628 | CDA | c.362A>C (p.Asp121Ala) n.348A>C | |
| 1 | g.20618489A>G | CA660310 | CDA | c.362A>G (p.Asp121Gly) n.348A>G | dbSNP ExAC gnomAD v2 |
| 1 | g.20618489A>T | CA338848629 | CDA | c.362A>T (p.Asp121Val) n.348A>T | gnomAD v4 |
| 1 | g.20618490T>A | CA338848631 | CDA | c.363T>A (p.Asp121Glu) n.349T>A | |
| 1 | g.20618490T>C | CA416488594 | CDA | c.363T>C (p.Asp121=) n.349T>C | |
| 1 | g.20618490T>G | CA338848633 | CDA | c.363T>G (p.Asp121Glu) n.349T>G | |
| 1 | g.20618491G>A | CA338848651 | CDA | c.364G>A (p.Gly122Ser) n.350G>A | |
| 1 | g.20618491G>C | CA338848661 | CDA | c.364G>C (p.Gly122Arg) n.350G>C | |
| 1 | g.20618491G>T | CA338848636 | CDA | c.364G>T (p.Gly122Cys) n.350G>T | |
| 1 | g.20618492G>A | CA338848664 | CDA | c.365G>A (p.Gly122Asp) n.351G>A | gnomAD v4 |
| 1 | g.20618492G>C | CA338848668 | CDA | c.365G>C (p.Gly122Ala) n.351G>C | |
| 1 | g.20618492G>T | CA338848677 | CDA | c.365G>T (p.Gly122Val) n.351G>T | gnomAD v4 |
| 1 | g.20618493T>A | CA416488595 | CDA | c.366T>A (p.Gly122=) n.352T>A | |
| 1 | g.20618493T>C | CA416488596 | CDA | c.366T>C (p.Gly122=) n.352T>C | |
| 1 | g.20618493T>G | CA416488598 | CDA | c.366T>G (p.Gly122=) n.352T>G | |
| 1 | g.20618494A>C | CA338848683 | CDA | c.367A>C (p.Thr123Pro) n.353A>C | |
| 1 | g.20618494A>G | CA338848686 | CDA | c.367A>G (p.Thr123Ala) n.353A>G | |
| 1 | g.20618494A>T | CA338848693 | CDA | c.367A>T (p.Thr123Ser) n.353A>T | |
| 1 | g.20618495C>A | CA338848697 | CDA | c.368C>A (p.Thr123Lys) n.354C>A | dbSNP |
| 1 | g.20618495C= | CA1142374870 | CDA | c.368C= (p.Thr123=) n.354C= | |
| 1 | g.20618495C>G | CA338848708 | CDA | c.368C>G (p.Thr123Arg) n.354C>G | |
| 1 | g.20618495C>T | CA660311 | CDA | c.368C>T (p.Thr123Met) n.354C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618496G>A | CA660312 | CDA | c.369G>A (p.Thr123=) n.355G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618496G>C | CA416488601 | CDA | c.369G>C (p.Thr123=) n.355G>C | gnomAD v4 |
| 1 | g.20618496G= | CA1141698752 | CDA | c.369G= (p.Thr123=) n.355G= | |
| 1 | g.20618496G>T | CA416488600 | CDA | c.369G>T (p.Thr123=) n.355G>T | |
| 1 | g.20618497T>A | CA338848725 | CDA | c.370T>A (p.Tyr124Asn) n.356T>A | |
| 1 | g.20618497T>C | CA338848727 | CDA | c.370T>C (p.Tyr124His) n.356T>C | |
| 1 | g.20618497T>G | CA338848733 | CDA | c.370T>G (p.Tyr124Asp) n.356T>G | |
| 1 | g.20618498A>C | CA338848744 | CDA | c.371A>C (p.Tyr124Ser) n.357A>C | |
| 1 | g.20618498A>G | CA338848737 | CDA | c.371A>G (p.Tyr124Cys) n.357A>G | |
| 1 | g.20618498A>T | CA338848740 | CDA | c.371A>T (p.Tyr124Phe) n.357A>T | |
| 1 | g.20618499T>A | CA338848748 | CDA | c.372T>A (p.Tyr124Ter) n.358T>A | |
| 1 | g.20618499T>C | CA416488603 | CDA | c.372T>C (p.Tyr124=) n.358T>C | |
| 1 | g.20618499T>G | CA338848749 | CDA | c.372T>G (p.Tyr124Ter) n.358T>G | |
| 1 | g.20618500A= | CA1157639793 | CDA | c.373A= (p.Ile125=) n.359A= | |
| 1 | g.20618500A>C | CA338848751 | CDA | c.373A>C (p.Ile125Leu) n.359A>C | |
| 1 | g.20618500A>G | CA338848753 | CDA | c.373A>G (p.Ile125Val) n.359A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.20618500A>T | CA338848754 | CDA | c.373A>T (p.Ile125Phe) n.359A>T | |
| 1 | g.20618501T>A | CA338848758 | CDA | c.374T>A (p.Ile125Asn) n.360T>A | |
| 1 | g.20618501T>C | CA338848766 | CDA | c.374T>C (p.Ile125Thr) n.360T>C | |
| 1 | g.20618501T>G | CA338848768 | CDA | c.374T>G (p.Ile125Ser) n.360T>G | |
| 1 | g.20618502T>A | CA416488604 | CDA | c.375T>A (p.Ile125=) n.361T>A | |
| 1 | g.20618502T>C | CA660313 | CDA | c.375T>C (p.Ile125=) n.361T>C | dbSNP ExAC gnomAD v2 |
| 1 | g.20618502T>G | CA338848775 | CDA | c.375T>G (p.Ile125Met) n.361T>G | |
| 1 | g.20618502T= | CA1157639794 | CDA | c.375T= (p.Ile125=) n.361T= | |
| 1 | g.20618503G>A | CA338848777 | CDA | c.376G>A (p.Val126Ile) n.362G>A | |
| 1 | g.20618503G>C | CA338848779 | CDA | c.376G>C (p.Val126Leu) n.362G>C | |
| 1 | g.20618503G>T | CA338848781 | CDA | c.376G>T (p.Val126Phe) n.362G>T | |
| 1 | g.20618504T>A | CA338848794 | CDA | c.377T>A (p.Val126Asp) n.363T>A | gnomAD v4 |
| 1 | g.20618504T>C | CA338848797 | CDA | c.377T>C (p.Val126Ala) n.363T>C | gnomAD v4 |
| 1 | g.20618504T>G | CA338848795 | CDA | c.377T>G (p.Val126Gly) n.363T>G | |
| 1 | g.20618505C>A | CA416488606 | CDA | c.378C>A (p.Val126=) n.364C>A | |
| 1 | g.20618505C>G | CA416488607 | CDA | c.378C>G (p.Val126=) n.364C>G | |
| 1 | g.20618505C>T | CA416488608 | CDA | c.378C>T (p.Val126=) n.364C>T | |
| 1 | g.20618506A= | CA1157639796 | CDA | c.379A= (p.Met127=) n.365A= | |
| 1 | g.20618506A>C | CA338848801 | CDA | c.379A>C (p.Met127Leu) n.365A>C | |
| 1 | g.20618506A>G | CA338848806 | CDA | c.379A>G (p.Met127Val) n.365A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20618506A>T | CA338848809 | CDA | c.379A>T (p.Met127Leu) n.365A>T | |
| 1 | g.20618507T>A | CA338848813 | CDA | c.380T>A (p.Met127Lys) n.366T>A | |
| 1 | g.20618507T>C | CA338848816 | CDA | c.380T>C (p.Met127Thr) n.366T>C | |
| 1 | g.20618507T>G | CA338848818 | CDA | c.380T>G (p.Met127Arg) n.366T>G | |
| 1 | g.20618508G>A | CA338848821 | CDA | c.381G>A (p.Met127Ile) n.367G>A | |
| 1 | g.20618508G>C | CA338848830 | CDA | c.381G>C (p.Met127Ile) n.367G>C | |
| 1 | g.20618508G>T | CA338848831 | CDA | c.381G>T (p.Met127Ile) n.367G>T | COSMIC |
| 1 | g.20618509A= | CA1157639799 | CDA | c.382A= (p.Thr128=) n.368A= | |
| 1 | g.20618509A>C | CA338848832 | CDA | c.382A>C (p.Thr128Pro) n.368A>C | |
| 1 | g.20618509A>G | CA338848833 | CDA | c.382A>G (p.Thr128Ala) n.368A>G | |
| 1 | g.20618509A>T | CA338848834 | CDA | c.382A>T (p.Thr128Ser) n.368A>T | dbSNP gnomAD v4 |
| 1 | g.20618510del | CA2574249226 | CDA | c.383del (p.Thr128ArgfsTer?) n.369del | |
| 1 | g.20618510C>A | CA338848836 | CDA | c.383C>A (p.Thr128Lys) n.369C>A | |
| 1 | g.20618510C= | CA1141670979 | CDA | c.383C= (p.Thr128=) n.369C= | |
| 1 | g.20618510C>G | CA338848835 | CDA | c.383C>G (p.Thr128Arg) n.369C>G | |
| 1 | g.20618510C>T | CA660314 | CDA | c.383C>T (p.Thr128Met) n.369C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618511G>A | CA660315 | CDA | c.384G>A (p.Thr128=) n.370G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618511G>C | CA416488612 | CDA | c.384G>C (p.Thr128=) n.370G>C | |
| 1 | g.20618511G= | CA1157639804 | CDA | c.384G= (p.Thr128=) n.370G= | |
| 1 | g.20618511G>T | CA416488613 | CDA | c.384G>T (p.Thr128=) n.370G>T | |
| 1 | g.20618512G>A | CA660316 | CDA | c.385G>A (p.Val129Ile) n.371G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20618512G>C | CA338848852 | CDA | c.385G>C (p.Val129Leu) n.371G>C | |
| 1 | g.20618512G= | CA1157639809 | CDA | c.385G= (p.Val129=) n.371G= | |
| 1 | g.20618512G>T | CA338848863 | CDA | c.385G>T (p.Val129Phe) n.371G>T | |
| 1 | g.20618513T>A | CA338848868 | CDA | c.386T>A (p.Val129Asp) n.372T>A | |
| 1 | g.20618513T>C | CA338848871 | CDA | c.386T>C (p.Val129Ala) n.372T>C | |
| 1 | g.20618513T>G | CA338848875 | CDA | c.386T>G (p.Val129Gly) n.372T>G | |
| 1 | g.20618514C>A | CA416488615 | CDA | c.387C>A (p.Val129=) n.373C>A | gnomAD v4 |
| 1 | g.20618514C>G | CA416488616 | CDA | c.387C>G (p.Val129=) n.373C>G | |
| 1 | g.20618514C>T | CA416488617 | CDA | c.387C>T (p.Val129=) n.373C>T | |
| 1 | g.20618515C>A | CA338848879 | CDA | c.388C>A (p.Gln130Lys) n.374C>A | |
| 1 | g.20618515C>G | CA338848896 | CDA | c.388C>G (p.Gln130Glu) n.374C>G | |
| 1 | g.20618515C>T | CA338848904 | CDA | c.388C>T (p.Gln130Ter) n.374C>T | |
| 1 | g.20618516A>C | CA338848911 | CDA | c.389A>C (p.Gln130Pro) n.375A>C | |
| 1 | g.20618516A>G | CA338848916 | CDA | c.389A>G (p.Gln130Arg) n.375A>G | gnomAD v4 |
| 1 | g.20618516A>T | CA338848920 | CDA | c.389A>T (p.Gln130Leu) n.375A>T | |
| 1 | g.20618517G>A | CA416488619 | CDA | c.390G>A (p.Gln130=) n.376G>A | |
| 1 | g.20618517G>C | CA338848925 | CDA | c.390G>C (p.Gln130His) n.376G>C | |
| 1 | g.20618517G>T | CA338848928 | CDA | c.390G>T (p.Gln130His) n.376G>T | |
| 1 | g.20618518G>A | CA338848933 | CDA | c.391G>A (p.Glu131Lys) n.377G>A | |
| 1 | g.20618518G>C | CA338848935 | CDA | c.391G>C (p.Glu131Gln) n.377G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20618518G= | CA1157639817 | CDA | c.391G= (p.Glu131=) n.377G= | |
| 1 | g.20618518G>T | CA338848936 | CDA | c.391G>T (p.Glu131Ter) n.377G>T | |
| 1 | g.20618519A>C | CA338848937 | CDA | c.392A>C (p.Glu131Ala) n.378A>C | |
| 1 | g.20618519A>G | CA338848940 | CDA | c.392A>G (p.Glu131Gly) n.378A>G | |
| 1 | g.20618519A>T | CA338848943 | CDA | c.392A>T (p.Glu131Val) n.378A>T | |
| 1 | g.20618520del | CA2643867613 | CDA | c.393del (p.Glu131AspfsTer?) n.379del | gnomAD v4 |
| 1 | g.20618520G>A | CA416488622 | CDA | c.393G>A (p.Glu131=) n.379G>A | dbSNP gnomAD v4 |
| 1 | g.20618520G>C | CA338848945 | CDA | c.393G>C (p.Glu131Asp) n.379G>C | |
| 1 | g.20618520G= | CA1157639823 | CDA | c.393G= (p.Glu131=) n.379G= | |
| 1 | g.20618520G>T | CA338848954 | CDA | c.393G>T (p.Glu131Asp) n.379G>T | |
| 1 | g.20618521C>A | CA338848957 | CDA | c.394C>A (p.Leu132Met) n.380C>A | |
| 1 | g.20618521C>G | CA338848958 | CDA | c.394C>G (p.Leu132Val) n.380C>G | gnomAD v4 |
| 1 | g.20618521C>T | CA416488623 | CDA | c.394C>T (p.Leu132=) n.380C>T | |
| 1 | g.20618522T>A | CA338848959 | CDA | c.395T>A (p.Leu132Gln) n.381T>A | |
| 1 | g.20618522T>C | CA338848962 | CDA | c.395T>C (p.Leu132Pro) n.381T>C | dbSNP |
| 1 | g.20618522T>G | CA338848966 | CDA | c.395T>G (p.Leu132Arg) n.381T>G | gnomAD v4 |
| 1 | g.20618522T= | CA1157639826 | CDA | c.395T= (p.Leu132=) n.381T= | |
| 1 | g.20618523G>A | CA416488627 | CDA | c.396G>A (p.Leu132=) n.382G>A | |
| 1 | g.20618523G>C | CA416488625 | CDA | c.396G>C (p.Leu132=) n.382G>C | gnomAD v4 |
| 1 | g.20618523G>T | CA416488626 | CDA | c.396G>T (p.Leu132=) n.382G>T | |
| 1 | g.20618524C>A | CA338848970 | CDA | c.397C>A (p.Leu133Met) n.383C>A | |
| 1 | g.20618524C>G | CA338848976 | CDA | c.397C>G (p.Leu133Val) n.383C>G | |
| 1 | g.20618524C>T | CA416488628 | CDA | c.397C>T (p.Leu133=) n.383C>T | |
| 1 | g.20618525T>A | CA338848980 | CDA | c.398T>A (p.Leu133Gln) n.384T>A | |
| 1 | g.20618525T>C | CA338848992 | CDA | c.398T>C (p.Leu133Pro) n.384T>C | gnomAD v4 |
| 1 | g.20618525T>G | CA338848987 | CDA | c.398T>G (p.Leu133Arg) n.384T>G | |
| 1 | g.20618526G>A | CA416488629 | CDA | c.399G>A (p.Leu133=) n.385G>A | |
| 1 | g.20618526G>C | CA416488630 | CDA | c.399G>C (p.Leu133=) n.385G>C | |
| 1 | g.20618526G>T | CA416488631 | CDA | c.399G>T (p.Leu133=) n.385G>T | |
| 1 | g.20618527C>A | CA338848995 | CDA | c.400C>A (p.Pro134Thr) n.386C>A | |
| 1 | g.20618527C>G | CA338849000 | CDA | c.400C>G (p.Pro134Ala) n.386C>G | |
| 1 | g.20618527C>T | CA338849004 | CDA | c.400C>T (p.Pro134Ser) n.386C>T | |
| 1 | g.20618528C>A | CA338849008 | CDA | c.401C>A (p.Pro134His) n.387C>A | |
| 1 | g.20618528C>G | CA338849022 | CDA | c.401C>G (p.Pro134Arg) n.387C>G | |
| 1 | g.20618528C>T | CA338849024 | CDA | c.401C>T (p.Pro134Leu) n.387C>T | |
| 1 | g.20618529C>A | CA416488635 | CDA | c.402C>A (p.Pro134=) n.388C>A | gnomAD v4 |
| 1 | g.20618529C>G | CA416488636 | CDA | c.402C>G (p.Pro134=) n.388C>G | |
| 1 | g.20618529C>T | CA416488637 | CDA | c.402C>T (p.Pro134=) n.388C>T | |
| 1 | g.20618530T>A | CA338849030 | CDA | c.403T>A (p.Ser135Thr) n.389T>A | |
| 1 | g.20618530T>C | CA338849039 | CDA | c.403T>C (p.Ser135Pro) n.389T>C | |
| 1 | g.20618530T>G | CA338849041 | CDA | c.403T>G (p.Ser135Ala) n.389T>G | |
| 1 | g.20618531C>A | CA338849049 | CDA | c.404C>A (p.Ser135Tyr) n.390C>A | |
| 1 | g.20618531C= | CA1157639829 | CDA | c.404C= (p.Ser135=) n.390C= | |
| 1 | g.20618531C>G | CA338849056 | CDA | c.404C>G (p.Ser135Cys) n.390C>G | |
| 1 | g.20618531C>T | CA660317 | CDA | c.404C>T (p.Ser135Phe) n.390C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20618532del | CA2643867614 | CDA | c.405del (p.Ser136ProfsTer?) n.391del | gnomAD v4 |
| 1 | g.20618532C>A | CA416488641 | CDA | c.405C>A (p.Ser135=) n.391C>A | |
| 1 | g.20618532C>G | CA416488642 | CDA | c.405C>G (p.Ser135=) n.391C>G | |
| 1 | g.20618532C>T | CA416488643 | CDA | c.405C>T (p.Ser135=) n.391C>T | |
| 1 | g.20618533T>A | CA338849067 | CDA | c.406T>A (p.Ser136Thr) n.392T>A | |
| 1 | g.20618533T>C | CA338849065 | CDA | c.406T>C (p.Ser136Pro) n.392T>C | |
| 1 | g.20618533T>G | CA338849066 | CDA | c.406T>G (p.Ser136Ala) n.392T>G | |
| 1 | g.20618534C>A | CA338849069 | CDA | c.407C>A (p.Ser136Tyr) n.393C>A | |
| 1 | g.20618534C= | CA1143536738 | CDA | c.407C= (p.Ser136=) n.393C= | |
| 1 | g.20618534C>G | CA338849070 | CDA | c.407C>G (p.Ser136Cys) n.393C>G | |
| 1 | g.20618534C>T | CA18979916 | CDA | c.407C>T (p.Ser136Phe) n.393C>T | dbSNP COSMIC |
| 1 | g.20618535C>A | CA18979917 | CDA | c.408C>A (p.Ser136=) n.394C>A | dbSNP |
| 1 | g.20618535C= | CA1143536739 | CDA | c.408C= (p.Ser136=) n.394C= | |
| 1 | g.20618535C>G | CA416488644 | CDA | c.408C>G (p.Ser136=) n.394C>G | |
| 1 | g.20618535C>T | CA416488645 | CDA | c.408C>T (p.Ser136=) n.394C>T | |
| 1 | g.20618536T>A | CA338849080 | CDA | c.409T>A (p.Phe137Ile) n.395T>A | |
| 1 | g.20618536T>C | CA338849083 | CDA | c.409T>C (p.Phe137Leu) n.395T>C | |
| 1 | g.20618536T>G | CA338849086 | CDA | c.409T>G (p.Phe137Val) n.395T>G | |
| 1 | g.20618537T>A | CA338849087 | CDA | c.410T>A (p.Phe137Tyr) n.396T>A | |
| 1 | g.20618537T>C | CA338849088 | CDA | c.410T>C (p.Phe137Ser) n.396T>C | |
| 1 | g.20618537T>G | CA338849089 | CDA | c.410T>G (p.Phe137Cys) n.396T>G | |
| 1 | g.20618538T>A | CA338849092 | CDA | c.411T>A (p.Phe137Leu) n.397T>A | |
| 1 | g.20618538T>C | CA416488646 | CDA | c.411T>C (p.Phe137=) n.397T>C | gnomAD v4 |
| 1 | g.20618538T>G | CA338849097 | CDA | c.411T>G (p.Phe137Leu) n.397T>G | |
| 1 | g.20618539G>A | CA338849108 | CDA | c.412G>A (p.Gly138Arg) n.398G>A | |
| 1 | g.20618539G>C | CA338849107 | CDA | c.412G>C (p.Gly138Arg) n.398G>C | |
| 1 | g.20618539G>T | CA338849105 | CDA | c.412G>T (p.Gly138Trp) n.398G>T | |
| 1 | g.20618540G>A | CA338849109 | CDA | c.413G>A (p.Gly138Glu) n.399G>A | gnomAD v4 COSMIC |
| 1 | g.20618540G>C | CA338849110 | CDA | c.413G>C (p.Gly138Ala) n.399G>C | dbSNP gnomAD v2 |
| 1 | g.20618540G= | CA1157639833 | CDA | c.413G= (p.Gly138=) n.399G= | |
| 1 | g.20618540G>T | CA338849112 | CDA | c.413G>T (p.Gly138Val) n.399G>T | |
| 1 | g.20618541G>A | CA18979919 | CDA | c.414G>A (p.Gly138=) n.400G>A | dbSNP |
| 1 | g.20618541G>C | CA416488650 | CDA | c.414G>C (p.Gly138=) n.400G>C | |
| 1 | g.20618541G= | CA1157639839 | CDA | c.414G= (p.Gly138=) n.400G= | |
| 1 | g.20618541G>T | CA416488651 | CDA | c.414G>T (p.Gly138=) n.400G>T | |
| 1 | g.20618542C>A | CA338849118 | CDA | c.415C>A (p.Pro139Thr) n.401C>A | gnomAD v4 |
| 1 | g.20618542C>G | CA338849119 | CDA | c.415C>G (p.Pro139Ala) n.401C>G | |
| 1 | g.20618542C>T | CA338849120 | CDA | c.415C>T (p.Pro139Ser) n.401C>T | |
| 1 | g.20618543C>A | CA338849121 | CDA | c.416C>A (p.Pro139His) n.402C>A | gnomAD v4 |
| 1 | g.20618543C= | CA1141971658 | CDA | c.416C= (p.Pro139=) n.402C= | |
| 1 | g.20618543C>G | CA660318 | CDA | c.416C>G (p.Pro139Arg) n.402C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618543C>T | CA338849124 | CDA | c.416C>T (p.Pro139Leu) n.402C>T | |
| 1 | g.20618544T>A | CA416488652 | CDA | c.417T>A (p.Pro139=) n.403T>A | |
| 1 | g.20618544T>C | CA416488654 | CDA | c.417T>C (p.Pro139=) n.403T>C | gnomAD v4 COSMIC |
| 1 | g.20618544T>G | CA416488653 | CDA | c.417T>G (p.Pro139=) n.403T>G | |
| 1 | g.20618545G>A | CA338849129 | CDA | c.418G>A (p.Glu140Lys) n.404G>A | dbSNP |
| 1 | g.20618545G>C | CA338849131 | CDA | c.418G>C (p.Glu140Gln) n.404G>C | |
| 1 | g.20618545G= | CA1157639842 | CDA | c.418G= (p.Glu140=) n.404G= | |
| 1 | g.20618545G>T | CA338849132 | CDA | c.418G>T (p.Glu140Ter) n.404G>T | |
| 1 | g.20618546A>C | CA338849135 | CDA | c.419A>C (p.Glu140Ala) n.405A>C | |
| 1 | g.20618546A>G | CA338849138 | CDA | c.419A>G (p.Glu140Gly) n.405A>G | |
| 1 | g.20618546A>T | CA338849133 | CDA | c.419A>T (p.Glu140Val) n.405A>T | |
| 1 | g.20618547G>A | CA416488657 | CDA | c.420G>A (p.Glu140=) n.406G>A | |
| 1 | g.20618547G>C | CA338849139 | CDA | c.420G>C (p.Glu140Asp) n.406G>C | |
| 1 | g.20618547G>T | CA338849140 | CDA | c.420G>T (p.Glu140Asp) n.406G>T | |
| 1 | g.20618548G>A | CA338849141 | CDA | c.421G>A (p.Asp141Asn) n.407G>A | |
| 1 | g.20618548G>C | CA338849143 | CDA | c.421G>C (p.Asp141His) n.407G>C | |
| 1 | g.20618548G>T | CA338849144 | CDA | c.421G>T (p.Asp141Tyr) n.407G>T | |
| 1 | g.20618549A>C | CA338849148 | CDA | c.422A>C (p.Asp141Ala) n.408A>C | |
| 1 | g.20618549A>G | CA338849150 | CDA | c.422A>G (p.Asp141Gly) n.408A>G | |
| 1 | g.20618549A>T | CA338849154 | CDA | c.422A>T (p.Asp141Val) n.408A>T | |
| 1 | g.20618550C>A | CA338849158 | CDA | c.423C>A (p.Asp141Glu) n.409C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.20618550C= | CA1157639843 | CDA | c.423C= (p.Asp141=) n.409C= | |
| 1 | g.20618550C>G | CA338849163 | CDA | c.423C>G (p.Asp141Glu) n.409C>G | |
| 1 | g.20618550C>T | CA416488659 | CDA | c.423C>T (p.Asp141=) n.409C>T | gnomAD v4 |
| 1 | g.20618551C>A | CA338849166 | CDA | c.424C>A (p.Leu142Met) n.410C>A | gnomAD v4 |
| 1 | g.20618551C>G | CA338849167 | CDA | c.424C>G (p.Leu142Val) n.410C>G | gnomAD v4 |
| 1 | g.20618551C>T | CA416488661 | CDA | c.424C>T (p.Leu142=) n.410C>T | |
| 1 | g.20618552T>A | CA338849171 | CDA | c.425T>A (p.Leu142Gln) n.411T>A | |
| 1 | g.20618552T>C | CA338849169 | CDA | c.425T>C (p.Leu142Pro) n.411T>C | dbSNP gnomAD v4 |
| 1 | g.20618552T>G | CA338849168 | CDA | c.425T>G (p.Leu142Arg) n.411T>G | |
| 1 | g.20618552T= | CA1157639845 | CDA | c.425T= (p.Leu142=) n.411T= | |
| 1 | g.20618553G>A | CA416488662 | CDA | c.426G>A (p.Leu142=) n.412G>A | dbSNP gnomAD v4 |
| 1 | g.20618553G>C | CA660319 | CDA | c.426G>C (p.Leu142=) n.412G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20618553G= | CA1157639849 | CDA | c.426G= (p.Leu142=) n.412G= | |
| 1 | g.20618553G>T | CA416488663 | CDA | c.426G>T (p.Leu142=) n.412G>T | COSMIC |
| 1 | g.20618554C>A | CA338849178 | CDA | c.427C>A (p.Gln143Lys) n.413C>A | gnomAD v4 |
| 1 | g.20618554C>G | CA338849183 | CDA | c.427C>G (p.Gln143Glu) n.413C>G | |
| 1 | g.20618554C>T | CA338849185 | CDA | c.427C>T (p.Gln143Ter) n.413C>T | |
| 1 | g.20618555A>C | CA338849192 | CDA | c.428A>C (p.Gln143Pro) n.414A>C | |
| 1 | g.20618555A>G | CA338849198 | CDA | c.428A>G (p.Gln143Arg) n.414A>G | gnomAD v4 |
| 1 | g.20618555A>T | CA338849202 | CDA | c.428A>T (p.Gln143Leu) n.414A>T | |
| 1 | g.20618556G>A | CA416488665 | CDA | c.429G>A (p.Gln143=) n.415G>A | |
| 1 | g.20618556G>C | CA338849207 | CDA | c.429G>C (p.Gln143His) n.415G>C | |
| 1 | g.20618556G>T | CA338849210 | CDA | c.429G>T (p.Gln143His) n.415G>T | |
| 1 | g.20618557A= | CA1157639853 | CDA | c.430A= (p.Lys144=) n.416A= | |
| 1 | g.20618557A>C | CA338849214 | CDA | c.430A>C (p.Lys144Gln) n.416A>C | |
| 1 | g.20618557A>G | CA660320 | CDA | c.430A>G (p.Lys144Glu) n.416A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618557A>T | CA338849230 | CDA | c.430A>T (p.Lys144Ter) n.416A>T | |
| 1 | g.20618558del | CA2643867615 | CDA | c.431del (p.Lys144ArgfsTer?) n.417del | gnomAD v4 |
| 1 | g.20618558A>C | CA338849247 | CDA | c.431A>C (p.Lys144Thr) n.417A>C | |
| 1 | g.20618558A>G | CA338849251 | CDA | c.431A>G (p.Lys144Arg) n.417A>G | |
| 1 | g.20618558A>T | CA338849240 | CDA | c.431A>T (p.Lys144Met) n.417A>T | |
| 1 | g.20618559G>A | CA660321 | CDA | c.432G>A (p.Lys144=) n.418G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618559G>C | CA338849261 | CDA | c.432G>C (p.Lys144Asn) n.418G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.20618559G= | CA1145840525 | CDA | c.432G= (p.Lys144=) n.418G= | |
| 1 | g.20618559G>T | CA338849264 | CDA | c.432G>T (p.Lys144Asn) n.418G>T | |
| 1 | g.20618560A>C | CA338849270 | CDA | c.433A>C (p.Thr145Pro) n.419A>C | |
| 1 | g.20618560A>G | CA338849274 | CDA | c.433A>G (p.Thr145Ala) n.419A>G | |
| 1 | g.20618560A>T | CA338849277 | CDA | c.433A>T (p.Thr145Ser) n.419A>T | |
| 1 | g.20618561C>A | CA338849280 | CDA | c.434C>A (p.Thr145Asn) n.420C>A | gnomAD v4 |
| 1 | g.20618561C>G | CA338849281 | CDA | c.434C>G (p.Thr145Ser) n.420C>G | |
| 1 | g.20618561C>T | CA338849285 | CDA | c.434C>T (p.Thr145Ile) n.420C>T | gnomAD v4 |
| 1 | g.20618563del | CA645512713 | CDA | c.436del (p.Gln146SerfsTer?) n.422del | gnomAD v4 COSMIC |
| 1 | g.20618562C>A | CA416488669 | CDA | c.435C>A (p.Thr145=) n.421C>A | gnomAD v4 |
| 1 | g.20618562C= | CA1139848804 | CDA | c.435C= (p.Thr145=) n.421C= | |
| 1 | g.20618562C>G | CA416488671 | CDA | c.435C>G (p.Thr145=) n.421C>G | |
| 1 | g.20618562C>T | CA660322 | CDA | c.435C>T (p.Thr145=) n.421C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618563C>A | CA338849302 | CDA | c.436C>A (p.Gln146Lys) n.422C>A | gnomAD v4 |
| 1 | g.20618563C>G | CA338849305 | CDA | c.436C>G (p.Gln146Glu) n.422C>G | |
| 1 | g.20618563C>T | CA338849308 | CDA | c.436C>T (p.Gln146Ter) n.422C>T | |
| 1 | g.20618564A>C | CA338849311 | CDA | c.437A>C (p.Gln146Pro) n.423A>C | |
| 1 | g.20618564A>G | CA338849310 | CDA | c.437A>G (p.Gln146Arg) n.423A>G | gnomAD v4 |
| 1 | g.20618564A>T | CA338849309 | CDA | c.437A>T (p.Gln146Leu) n.423A>T | |
| 1 | g.20618565G>A | CA416488673 | CDA | c.438G>A (p.Gln146=) n.424G>A | gnomAD v4 |
| 1 | g.20618565G>C | CA338849313 | CDA | c.438G>C (p.Gln146His) n.424G>C | |
| 1 | g.20618565G= | CA1157639863 | CDA | c.438G= (p.Gln146=) n.424G= | |
| 1 | g.20618565G>T | CA338849314 | CDA | c.438G>T (p.Gln146His) n.424G>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.20618566T>A | CA338849320 | CDA | c.439T>A (p.Ter147Arg) n.425T>A | |
| 1 | g.20618566T>C | CA338849322 | CDA | c.439T>C (p.Ter147Arg) n.425T>C | |
| 1 | g.20618566T>G | CA338849326 | CDA | c.439T>G (p.Ter147Gly) n.425T>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20618566T= | CA1157639868 | CDA | c.439T= (p.Ter147=) n.425T= | |
| 1 | g.20618567G>A | CA660323 | CDA | c.440G>A (p.Ter147=) n.426G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618567G>C | CA338849336 | CDA | c.440G>C (p.Ter147Ser) n.426G>C | |
| 1 | g.20618567G= | CA1157639874 | CDA | c.440G= (p.Ter147=) n.426G= | |
| 1 | g.20618567G>T | CA338849338 | CDA | c.440G>T (p.Ter147Leu) n.426G>T | |
| 1 | g.20618568A>C | CA338849341 | CDA | c.441A>C (p.Ter147Cys) n.427A>C | |
| 1 | g.20618568A>G | CA338849345 | CDA | c.441A>G (p.Ter147Trp) n.427A>G | |
| 1 | g.20618568A>T | CA338849350 | CDA | c.441A>T (p.Ter147Cys) n.427A>T | |
| 1 | g.20618569C>A | CA2555151583 | CDA | c.*1C>A (n.*1C>A) n.428C>A | gnomAD v4 |
| 1 | g.20618569C= | CA1157639879 | CDA | c.*1C= (n.*1C=) n.428C= | |
| 1 | g.20618569C>T | CA730511674 | CDA | c.*1C>T (n.*1C>T) n.428C>T | dbSNP gnomAD v4 |
| 1 | g.20618570A>G | CA2643867616 | CDA | c.*2A>G (n.*2A>G) n.429A>G | gnomAD v4 |
| 1 | g.20618571G>A | CA660324 | CDA | c.*3G>A (n.*3G>A) n.430G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618571G>C | CA2643867617 | CDA | c.*3G>C (n.*3G>C) n.430G>C | gnomAD v4 |
| 1 | g.20618571G= | CA1140805634 | CDA | c.*3G= (n.*3G=) n.430G= | |
| 1 | g.20618571G>T | CA2643867618 | CDA | c.*3G>T (n.*3G>T) n.430G>T | gnomAD v4 |
| 1 | g.20618572C>A | CA2643867620 | CDA | c.*4C>A (n.*4C>A) n.431C>A | gnomAD v4 |
| 1 | g.20618572C= | CA1157639890 | CDA | c.*4C= (n.*4C=) n.431C= | |
| 1 | g.20618572C>G | CA660325 | CDA | c.*4C>G (n.*4C>G) n.431C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20618572C>T | CA1157639885 | CDA | c.*4C>T (n.*4C>T) n.431C>T | dbSNP gnomAD v4 |
| 1 | g.20618573del | CA2643867619 | CDA | c.*5del (n.*5del) n.432del | gnomAD v4 |
| 1 | g.20618573C>A | CA2643867621 | CDA | c.*5C>A (n.*5C>A) n.432C>A | gnomAD v4 |
| 1 | g.20618574A>G | CA2695521232 | CDA | c.*6A>G (n.*6A>G) n.433A>G | dbSNP |
| 1 | g.20618574A>T | CA2740114675 | CDA | c.*6A>T (n.*6A>T) n.433A>T | |
| 1 | g.20618576A>T | CA2643867622 | CDA | c.*8A>T (n.*8A>T) n.435A>T | gnomAD v4 |
| 1 | g.20618577G>A | CA2643867624 | CDA | c.*9G>A (n.*9G>A) n.436G>A | gnomAD v4 |
| 1 | g.20618577G>C | CA2549403726 | CDA | c.*9G>C (n.*9G>C) n.436G>C | |
| 1 | g.20618577G>T | CA2643867623 | CDA | c.*9G>T (n.*9G>T) n.436G>T | gnomAD v4 |
| 1 | g.20618578A>G | CA2643867625 | CDA | c.*10A>G (n.*10A>G) n.437A>G | gnomAD v4 |
| 1 | g.20618578A>T | CA2643867626 | CDA | c.*10A>T (n.*10A>T) n.437A>T | gnomAD v4 |