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 |
|---|---|---|---|---|---|
| 10 | g.30026680G>A | CA468974547 | JCAD | c.3468C>T (p.Ser1156=) c.3054C>T (p.Ser1018=) | |
| 10 | g.30026680G>C | CA376420708 | JCAD | c.3468C>G (p.Ser1156Arg) c.3054C>G (p.Ser1018Arg) | |
| 10 | g.30026680G>T | CA376420709 | JCAD | c.3468C>A (p.Ser1156Arg) c.3054C>A (p.Ser1018Arg) | |
| 10 | g.30026681C>A | CA376420710 | JCAD | c.3467G>T (p.Ser1156Ile) c.3053G>T (p.Ser1018Ile) | |
| 10 | g.30026681C= | CA1899183853 | JCAD | c.3467G= (p.Ser1156=) c.3053G= (p.Ser1018=) | |
| 10 | g.30026681C>G | CA376420711 | JCAD | c.3467G>C (p.Ser1156Thr) c.3053G>C (p.Ser1018Thr) | |
| 10 | g.30026681C>T | CA376420712 | JCAD | c.3467G>A (p.Ser1156Asn) c.3053G>A (p.Ser1018Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026682T>A | CA376420714 | JCAD | c.3466A>T (p.Ser1156Cys) c.3052A>T (p.Ser1018Cys) | |
| 10 | g.30026682T>C | CA376420715 | JCAD | c.3466A>G (p.Ser1156Gly) c.3052A>G (p.Ser1018Gly) | gnomAD v4 |
| 10 | g.30026682T>G | CA376420713 | JCAD | c.3466A>C (p.Ser1156Arg) c.3052A>C (p.Ser1018Arg) | |
| 10 | g.30026683C>A | CA376420716 | JCAD | c.3465G>T (p.Lys1155Asn) c.3051G>T (p.Lys1017Asn) | |
| 10 | g.30026683C>G | CA376420717 | JCAD | c.3465G>C (p.Lys1155Asn) c.3051G>C (p.Lys1017Asn) | |
| 10 | g.30026683C>T | CA468974548 | JCAD | c.3465G>A (p.Lys1155=) c.3051G>A (p.Lys1017=) | |
| 10 | g.30026684T>A | CA376420718 | JCAD | c.3464A>T (p.Lys1155Met) c.3050A>T (p.Lys1017Met) | |
| 10 | g.30026684T>C | CA376420719 | JCAD | c.3464A>G (p.Lys1155Arg) c.3050A>G (p.Lys1017Arg) | |
| 10 | g.30026684T>G | CA376420720 | JCAD | c.3464A>C (p.Lys1155Thr) c.3050A>C (p.Lys1017Thr) | |
| 10 | g.30026685T>A | CA376420723 | JCAD | c.3463A>T (p.Lys1155Ter) c.3049A>T (p.Lys1017Ter) | |
| 10 | g.30026685T>C | CA376420721 | JCAD | c.3463A>G (p.Lys1155Glu) c.3049A>G (p.Lys1017Glu) | ClinVar gnomAD v4 |
| 10 | g.30026685T>G | CA376420722 | JCAD | c.3463A>C (p.Lys1155Gln) c.3049A>C (p.Lys1017Gln) | |
| 10 | g.30026686G>A | CA468974549 | JCAD | c.3462C>T (p.Thr1154=) c.3048C>T (p.Thr1016=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30026686G>C | CA468974550 | JCAD | c.3462C>G (p.Thr1154=) c.3048C>G (p.Thr1016=) | |
| 10 | g.30026686G= | CA1899183854 | JCAD | c.3462C= (p.Thr1154=) c.3048C= (p.Thr1016=) | |
| 10 | g.30026686G>T | CA468974551 | JCAD | c.3462C>A (p.Thr1154=) c.3048C>A (p.Thr1016=) | gnomAD v4 |
| 10 | g.30026687G>A | CA376420724 | JCAD | c.3461C>T (p.Thr1154Ile) c.3047C>T (p.Thr1016Ile) | |
| 10 | g.30026687G>C | CA376420725 | JCAD | c.3461C>G (p.Thr1154Ser) c.3047C>G (p.Thr1016Ser) | |
| 10 | g.30026687G>T | CA376420726 | JCAD | c.3461C>A (p.Thr1154Asn) c.3047C>A (p.Thr1016Asn) | |
| 10 | g.30026688T>A | CA376420727 | JCAD | c.3460A>T (p.Thr1154Ser) c.3046A>T (p.Thr1016Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30026688T>C | CA376420728 | JCAD | c.3460A>G (p.Thr1154Ala) c.3046A>G (p.Thr1016Ala) | gnomAD v4 |
| 10 | g.30026688T>G | CA376420729 | JCAD | c.3460A>C (p.Thr1154Pro) c.3046A>C (p.Thr1016Pro) | |
| 10 | g.30026688T= | CA1899183855 | JCAD | c.3460A= (p.Thr1154=) c.3046A= (p.Thr1016=) | |
| 10 | g.30026689C>A | CA376420731 | JCAD | c.3459G>T (p.Trp1153Cys) c.3045G>T (p.Trp1015Cys) | |
| 10 | g.30026689C>G | CA376420732 | JCAD | c.3459G>C (p.Trp1153Cys) c.3045G>C (p.Trp1015Cys) | |
| 10 | g.30026689C>T | CA376420730 | JCAD | c.3459G>A (p.Trp1153Ter) c.3045G>A (p.Trp1015Ter) | |
| 10 | g.30026690C>A | CA376420735 | JCAD | c.3458G>T (p.Trp1153Leu) c.3044G>T (p.Trp1015Leu) | |
| 10 | g.30026690C>G | CA376420733 | JCAD | c.3458G>C (p.Trp1153Ser) c.3044G>C (p.Trp1015Ser) | |
| 10 | g.30026690C>T | CA376420734 | JCAD | c.3458G>A (p.Trp1153Ter) c.3044G>A (p.Trp1015Ter) | |
| 10 | g.30026691A>C | CA376420736 | JCAD | c.3457T>G (p.Trp1153Gly) c.3043T>G (p.Trp1015Gly) | |
| 10 | g.30026691A>G | CA376420737 | JCAD | c.3457T>C (p.Trp1153Arg) c.3043T>C (p.Trp1015Arg) | |
| 10 | g.30026691A>T | CA376420738 | JCAD | c.3457T>A (p.Trp1153Arg) c.3043T>A (p.Trp1015Arg) | |
| 10 | g.30026692G>A | CA468974553 | JCAD | c.3456C>T (p.Gly1152=) c.3042C>T (p.Gly1014=) | dbSNP |
| 10 | g.30026692G>C | CA468974554 | JCAD | c.3456C>G (p.Gly1152=) c.3042C>G (p.Gly1014=) | |
| 10 | g.30026692G= | CA1899183856 | JCAD | c.3456C= (p.Gly1152=) c.3042C= (p.Gly1014=) | |
| 10 | g.30026692G>T | CA468974552 | JCAD | c.3456C>A (p.Gly1152=) c.3042C>A (p.Gly1014=) | |
| 10 | g.30026693C>A | CA376420741 | JCAD | c.3455G>T (p.Gly1152Val) c.3041G>T (p.Gly1014Val) | |
| 10 | g.30026693C>G | CA376420740 | JCAD | c.3455G>C (p.Gly1152Ala) c.3041G>C (p.Gly1014Ala) | |
| 10 | g.30026693C>T | CA376420739 | JCAD | c.3455G>A (p.Gly1152Asp) c.3041G>A (p.Gly1014Asp) | gnomAD v4 |
| 10 | g.30026694C>A | CA376420742 | JCAD | c.3454G>T (p.Gly1152Cys) c.3040G>T (p.Gly1014Cys) | |
| 10 | g.30026694C= | CA1899183857 | JCAD | c.3454G= (p.Gly1152=) c.3040G= (p.Gly1014=) | |
| 10 | g.30026694C>G | CA376420743 | JCAD | c.3454G>C (p.Gly1152Arg) c.3040G>C (p.Gly1014Arg) | |
| 10 | g.30026694C>T | CA5458129 | JCAD | c.3454G>A (p.Gly1152Ser) c.3040G>A (p.Gly1014Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026695G>A | CA5458130 | JCAD | c.3453C>T (p.Cys1151=) c.3039C>T (p.Cys1013=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026695G>C | CA376420744 | JCAD | c.3453C>G (p.Cys1151Trp) c.3039C>G (p.Cys1013Trp) | |
| 10 | g.30026695G= | CA1899183858 | JCAD | c.3453C= (p.Cys1151=) c.3039C= (p.Cys1013=) | |
| 10 | g.30026695G>T | CA376420745 | JCAD | c.3453C>A (p.Cys1151Ter) c.3039C>A (p.Cys1013Ter) | |
| 10 | g.30026696C>A | CA376420748 | JCAD | c.3452G>T (p.Cys1151Phe) c.3038G>T (p.Cys1013Phe) | gnomAD v4 |
| 10 | g.30026696C>G | CA376420746 | JCAD | c.3452G>C (p.Cys1151Ser) c.3038G>C (p.Cys1013Ser) | |
| 10 | g.30026696C>T | CA376420747 | JCAD | c.3452G>A (p.Cys1151Tyr) c.3038G>A (p.Cys1013Tyr) | gnomAD v4 |
| 10 | g.30026697A= | CA1899183859 | JCAD | c.3451T= (p.Cys1151=) c.3037T= (p.Cys1013=) | |
| 10 | g.30026697A>C | CA376420749 | JCAD | c.3451T>G (p.Cys1151Gly) c.3037T>G (p.Cys1013Gly) | |
| 10 | g.30026697A>G | CA376420750 | JCAD | c.3451T>C (p.Cys1151Arg) c.3037T>C (p.Cys1013Arg) | gnomAD v4 |
| 10 | g.30026697A>T | CA5458131 | JCAD | c.3451T>A (p.Cys1151Ser) c.3037T>A (p.Cys1013Ser) | dbSNP ExAC |
| 10 | g.30026698C>A | CA5458132 | JCAD | c.3450G>T (p.Lys1150Asn) c.3036G>T (p.Lys1012Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026698C= | CA1899183860 | JCAD | c.3450G= (p.Lys1150=) c.3036G= (p.Lys1012=) | |
| 10 | g.30026698C>G | CA376420751 | JCAD | c.3450G>C (p.Lys1150Asn) c.3036G>C (p.Lys1012Asn) | |
| 10 | g.30026698C>T | CA468974555 | JCAD | c.3450G>A (p.Lys1150=) c.3036G>A (p.Lys1012=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026699T>A | CA376420752 | JCAD | c.3449A>T (p.Lys1150Met) c.3035A>T (p.Lys1012Met) | |
| 10 | g.30026699T>C | CA376420753 | JCAD | c.3449A>G (p.Lys1150Arg) c.3035A>G (p.Lys1012Arg) | |
| 10 | g.30026699T>G | CA376420754 | JCAD | c.3449A>C (p.Lys1150Thr) c.3035A>C (p.Lys1012Thr) | |
| 10 | g.30026700del | CA2608692302 | JCAD | c.3449del (p.Lys1150SerfsTer11) c.3035del (p.Lys1012SerfsTer11) | gnomAD v4 |
| 10 | g.30026700T>A | CA376420755 | JCAD | c.3448A>T (p.Lys1150Ter) c.3034A>T (p.Lys1012Ter) | |
| 10 | g.30026700T>C | CA5458133 | JCAD | c.3448A>G (p.Lys1150Glu) c.3034A>G (p.Lys1012Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30026700T>G | CA376420756 | JCAD | c.3448A>C (p.Lys1150Gln) c.3034A>C (p.Lys1012Gln) | |
| 10 | g.30026700T= | CA1899183861 | JCAD | c.3448A= (p.Lys1150=) c.3034A= (p.Lys1012=) | |
| 10 | g.30026701C>A | CA376420757 | JCAD | c.3447G>T (p.Arg1149Ser) c.3033G>T (p.Arg1011Ser) | |
| 10 | g.30026701C>G | CA376420758 | JCAD | c.3447G>C (p.Arg1149Ser) c.3033G>C (p.Arg1011Ser) | |
| 10 | g.30026701C>T | CA468974556 | JCAD | c.3447G>A (p.Arg1149=) c.3033G>A (p.Arg1011=) | COSMIC |
| 10 | g.30026702C>A | CA376420761 | JCAD | c.3446G>T (p.Arg1149Met) c.3032G>T (p.Arg1011Met) | |
| 10 | g.30026702C>G | CA376420759 | JCAD | c.3446G>C (p.Arg1149Thr) c.3032G>C (p.Arg1011Thr) | |
| 10 | g.30026702C>T | CA376420760 | JCAD | c.3446G>A (p.Arg1149Lys) c.3032G>A (p.Arg1011Lys) | |
| 10 | g.30026703T>A | CA376420762 | JCAD | c.3445A>T (p.Arg1149Trp) c.3031A>T (p.Arg1011Trp) | |
| 10 | g.30026703T>C | CA5458134 | JCAD | c.3445A>G (p.Arg1149Gly) c.3031A>G (p.Arg1011Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026703T>G | CA468974557 | JCAD | c.3445A>C (p.Arg1149=) c.3031A>C (p.Arg1011=) | |
| 10 | g.30026703T= | CA1899183862 | JCAD | c.3445A= (p.Arg1149=) c.3031A= (p.Arg1011=) | |
| 10 | g.30026704C>A | CA376420763 | JCAD | c.3444G>T (p.Arg1148Ser) c.3030G>T (p.Arg1010Ser) | |
| 10 | g.30026704C= | CA1899183863 | JCAD | c.3444G= (p.Arg1148=) c.3030G= (p.Arg1010=) | |
| 10 | g.30026704C>G | CA5458135 | JCAD | c.3444G>C (p.Arg1148Ser) c.3030G>C (p.Arg1010Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026704C>T | CA5458136 | JCAD | c.3444G>A (p.Arg1148=) c.3030G>A (p.Arg1010=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026705_30026706insCCCC | CA2608692303 | JCAD | c.3444_3445insGGGG (p.Arg1149GlyfsTer27) c.3030_3031insGGGG (p.Arg1011GlyfsTer27) | gnomAD v4 |
| 10 | g.30026705C>A | CA376420764 | JCAD | c.3443G>T (p.Arg1148Met) c.3029G>T (p.Arg1010Met) | |
| 10 | g.30026705C>G | CA376420765 | JCAD | c.3443G>C (p.Arg1148Thr) c.3029G>C (p.Arg1010Thr) | |
| 10 | g.30026705C>T | CA376420766 | JCAD | c.3443G>A (p.Arg1148Lys) c.3029G>A (p.Arg1010Lys) | |
| 10 | g.30026705_30026706delinsCT | CA1899183864 | JCAD | c.3442_3443delinsAG (p.Arg1148=) c.3028_3029delinsAG (p.Arg1010=) | |
| 10 | g.30026706del | CA592781458 | JCAD | c.3442del (p.Arg1148GlyfsTer13) c.3028del (p.Arg1010GlyfsTer13) | dbSNP gnomAD v2 |
| 10 | g.30026706T>A | CA376420767 | JCAD | c.3442A>T (p.Arg1148Trp) c.3028A>T (p.Arg1010Trp) | |
| 10 | g.30026706T>C | CA376420768 | JCAD | c.3442A>G (p.Arg1148Gly) c.3028A>G (p.Arg1010Gly) | |
| 10 | g.30026706T>G | CA468974558 | JCAD | c.3442A>C (p.Arg1148=) c.3028A>C (p.Arg1010=) | |
| 10 | g.30026707G>A | CA468974559 | JCAD | c.3441C>T (p.Gly1147=) c.3027C>T (p.Gly1009=) | |
| 10 | g.30026707G>C | CA468974560 | JCAD | c.3441C>G (p.Gly1147=) c.3027C>G (p.Gly1009=) | |
| 10 | g.30026707G>T | CA468974561 | JCAD | c.3441C>A (p.Gly1147=) c.3027C>A (p.Gly1009=) | |
| 10 | g.30026708C>A | CA376420769 | JCAD | c.3440G>T (p.Gly1147Val) c.3026G>T (p.Gly1009Val) | dbSNP gnomAD v4 |
| 10 | g.30026708C= | CA1899183865 | JCAD | c.3440G= (p.Gly1147=) c.3026G= (p.Gly1009=) | |
| 10 | g.30026708C>G | CA5458137 | JCAD | c.3440G>C (p.Gly1147Ala) c.3026G>C (p.Gly1009Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026708C>T | CA376420770 | JCAD | c.3440G>A (p.Gly1147Asp) c.3026G>A (p.Gly1009Asp) | |
| 10 | g.30026709C>A | CA376420773 | JCAD | c.3439G>T (p.Gly1147Cys) c.3025G>T (p.Gly1009Cys) | |
| 10 | g.30026709C>G | CA376420772 | JCAD | c.3439G>C (p.Gly1147Arg) c.3025G>C (p.Gly1009Arg) | |
| 10 | g.30026709C>T | CA376420771 | JCAD | c.3439G>A (p.Gly1147Ser) c.3025G>A (p.Gly1009Ser) | COSMIC |
| 10 | g.30026710A>C | CA376420774 | JCAD | c.3438T>G (p.Tyr1146Ter) c.3024T>G (p.Tyr1008Ter) | |
| 10 | g.30026710A>G | CA468974562 | JCAD | c.3438T>C (p.Tyr1146=) c.3024T>C (p.Tyr1008=) | |
| 10 | g.30026710A>T | CA376420775 | JCAD | c.3438T>A (p.Tyr1146Ter) c.3024T>A (p.Tyr1008Ter) | |
| 10 | g.30026711T>A | CA376420776 | JCAD | c.3437A>T (p.Tyr1146Phe) c.3023A>T (p.Tyr1008Phe) | |
| 10 | g.30026711T>C | CA376420777 | JCAD | c.3437A>G (p.Tyr1146Cys) c.3023A>G (p.Tyr1008Cys) | |
| 10 | g.30026711T>G | CA376420778 | JCAD | c.3437A>C (p.Tyr1146Ser) c.3023A>C (p.Tyr1008Ser) | |
| 10 | g.30026712A>C | CA376420779 | JCAD | c.3436T>G (p.Tyr1146Asp) c.3022T>G (p.Tyr1008Asp) | |
| 10 | g.30026712A>G | CA376420780 | JCAD | c.3436T>C (p.Tyr1146His) c.3022T>C (p.Tyr1008His) | |
| 10 | g.30026712A>T | CA376420781 | JCAD | c.3436T>A (p.Tyr1146Asn) c.3022T>A (p.Tyr1008Asn) | |
| 10 | g.30026713A>C | CA376420782 | JCAD | c.3435T>G (p.Phe1145Leu) c.3021T>G (p.Phe1007Leu) | |
| 10 | g.30026713A>G | CA468974563 | JCAD | c.3435T>C (p.Phe1145=) c.3021T>C (p.Phe1007=) | |
| 10 | g.30026713A>T | CA376420783 | JCAD | c.3435T>A (p.Phe1145Leu) c.3021T>A (p.Phe1007Leu) | |
| 10 | g.30026714A>C | CA376420784 | JCAD | c.3434T>G (p.Phe1145Cys) c.3020T>G (p.Phe1007Cys) | |
| 10 | g.30026714A>G | CA376420785 | JCAD | c.3434T>C (p.Phe1145Ser) c.3020T>C (p.Phe1007Ser) | |
| 10 | g.30026714A>T | CA376420786 | JCAD | c.3434T>A (p.Phe1145Tyr) c.3020T>A (p.Phe1007Tyr) | |
| 10 | g.30026715A>C | CA376420793 | JCAD | c.3433T>G (p.Phe1145Val) c.3019T>G (p.Phe1007Val) | |
| 10 | g.30026715A>G | CA376420795 | JCAD | c.3433T>C (p.Phe1145Leu) c.3019T>C (p.Phe1007Leu) | gnomAD v4 |
| 10 | g.30026715A>T | CA376420790 | JCAD | c.3433T>A (p.Phe1145Ile) c.3019T>A (p.Phe1007Ile) | |
| 10 | g.30026716G>A | CA468974564 | JCAD | c.3432C>T (p.Ala1144=) c.3018C>T (p.Ala1006=) | dbSNP gnomAD v4 |
| 10 | g.30026716G>C | CA468974565 | JCAD | c.3432C>G (p.Ala1144=) c.3018C>G (p.Ala1006=) | |
| 10 | g.30026716G= | CA1899183866 | JCAD | c.3432C= (p.Ala1144=) c.3018C= (p.Ala1006=) | |
| 10 | g.30026716G>T | CA468974566 | JCAD | c.3432C>A (p.Ala1144=) c.3018C>A (p.Ala1006=) | gnomAD v4 |
| 10 | g.30026717G>A | CA205267542 | JCAD | c.3431C>T (p.Ala1144Val) c.3017C>T (p.Ala1006Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026717G>C | CA376420801 | JCAD | c.3431C>G (p.Ala1144Gly) c.3017C>G (p.Ala1006Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026717G= | CA1899183867 | JCAD | c.3431C= (p.Ala1144=) c.3017C= (p.Ala1006=) | |
| 10 | g.30026717G>T | CA376420798 | JCAD | c.3431C>A (p.Ala1144Asp) c.3017C>A (p.Ala1006Asp) | gnomAD v4 |
| 10 | g.30026718C>A | CA376420804 | JCAD | c.3430G>T (p.Ala1144Ser) c.3016G>T (p.Ala1006Ser) | gnomAD v4 |
| 10 | g.30026718C= | CA1899183868 | JCAD | c.3430G= (p.Ala1144=) c.3016G= (p.Ala1006=) | |
| 10 | g.30026718C>G | CA376420806 | JCAD | c.3430G>C (p.Ala1144Pro) c.3016G>C (p.Ala1006Pro) | |
| 10 | g.30026718C>T | CA376420808 | JCAD | c.3430G>A (p.Ala1144Thr) c.3016G>A (p.Ala1006Thr) | dbSNP |
| 10 | g.30026719A>C | CA376420811 | JCAD | c.3429T>G (p.Asp1143Glu) c.3015T>G (p.Asp1005Glu) | |
| 10 | g.30026719A>G | CA468974567 | JCAD | c.3429T>C (p.Asp1143=) c.3015T>C (p.Asp1005=) | |
| 10 | g.30026719A>T | CA376420813 | JCAD | c.3429T>A (p.Asp1143Glu) c.3015T>A (p.Asp1005Glu) | |
| 10 | g.30026720T>A | CA376420817 | JCAD | c.3428A>T (p.Asp1143Val) c.3014A>T (p.Asp1005Val) | |
| 10 | g.30026720T>C | CA376420819 | JCAD | c.3428A>G (p.Asp1143Gly) c.3014A>G (p.Asp1005Gly) | |
| 10 | g.30026720T>G | CA376420821 | JCAD | c.3428A>C (p.Asp1143Ala) c.3014A>C (p.Asp1005Ala) | |
| 10 | g.30026721C>A | CA376420823 | JCAD | c.3427G>T (p.Asp1143Tyr) c.3013G>T (p.Asp1005Tyr) | |
| 10 | g.30026721C>G | CA376420826 | JCAD | c.3427G>C (p.Asp1143His) c.3013G>C (p.Asp1005His) | ClinVar gnomAD v4 |
| 10 | g.30026721C>T | CA376420828 | JCAD | c.3427G>A (p.Asp1143Asn) c.3013G>A (p.Asp1005Asn) | gnomAD v4 |
| 10 | g.30026722A= | CA1899183869 | JCAD | c.3426T= (p.Thr1142=) c.3012T= (p.Thr1004=) | |
| 10 | g.30026722A>C | CA5458138 | JCAD | c.3426T>G (p.Thr1142=) c.3012T>G (p.Thr1004=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30026722A>G | CA468974571 | JCAD | c.3426T>C (p.Thr1142=) c.3012T>C (p.Thr1004=) | gnomAD v4 |
| 10 | g.30026722A>T | CA468974572 | JCAD | c.3426T>A (p.Thr1142=) c.3012T>A (p.Thr1004=) | |
| 10 | g.30026723G>A | CA205267543 | JCAD | c.3425C>T (p.Thr1142Ile) c.3011C>T (p.Thr1004Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30026723G>C | CA5458139 | JCAD | c.3425C>G (p.Thr1142Ser) c.3011C>G (p.Thr1004Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30026723G= | CA1899183870 | JCAD | c.3425C= (p.Thr1142=) c.3011C= (p.Thr1004=) | |
| 10 | g.30026723G>T | CA376420837 | JCAD | c.3425C>A (p.Thr1142Asn) c.3011C>A (p.Thr1004Asn) | |
| 10 | g.30026724T>A | CA376420843 | JCAD | c.3424A>T (p.Thr1142Ser) c.3010A>T (p.Thr1004Ser) | |
| 10 | g.30026724T>C | CA376420846 | JCAD | c.3424A>G (p.Thr1142Ala) c.3010A>G (p.Thr1004Ala) | gnomAD v4 |
| 10 | g.30026724T>G | CA376420850 | JCAD | c.3424A>C (p.Thr1142Pro) c.3010A>C (p.Thr1004Pro) | |
| 10 | g.30026725G>A | CA468974578 | JCAD | c.3423C>T (p.Ser1141=) c.3009C>T (p.Ser1003=) | gnomAD v4 |
| 10 | g.30026725G>C | CA468974576 | JCAD | c.3423C>G (p.Ser1141=) c.3009C>G (p.Ser1003=) | |
| 10 | g.30026725G= | CA1899183871 | JCAD | c.3423C= (p.Ser1141=) c.3009C= (p.Ser1003=) | |
| 10 | g.30026725G>T | CA468974577 | JCAD | c.3423C>A (p.Ser1141=) c.3009C>A (p.Ser1003=) | |
| 10 | g.30026726G>A | CA376420854 | JCAD | c.3422C>T (p.Ser1141Phe) c.3008C>T (p.Ser1003Phe) | |
| 10 | g.30026726G>C | CA376420857 | JCAD | c.3422C>G (p.Ser1141Cys) c.3008C>G (p.Ser1003Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026726G= | CA1899183872 | JCAD | c.3422C= (p.Ser1141=) c.3008C= (p.Ser1003=) | |
| 10 | g.30026726G>T | CA376420859 | JCAD | c.3422C>A (p.Ser1141Tyr) c.3008C>A (p.Ser1003Tyr) | |
| 10 | g.30026726_30026729dup | CA926382807 | JCAD | c.3419_3422dup (p.Thr1142ValfsTer3) c.3005_3008dup (p.Thr1004ValfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30026727A>C | CA376420864 | JCAD | c.3421T>G (p.Ser1141Ala) c.3007T>G (p.Ser1003Ala) | |
| 10 | g.30026727A>G | CA376420866 | JCAD | c.3421T>C (p.Ser1141Pro) c.3007T>C (p.Ser1003Pro) | |
| 10 | g.30026727A>T | CA376420868 | JCAD | c.3421T>A (p.Ser1141Thr) c.3007T>A (p.Ser1003Thr) | |
| 10 | g.30026728C>A | CA468974582 | JCAD | c.3420G>T (p.Val1140=) c.3006G>T (p.Val1002=) | |
| 10 | g.30026728C= | CA1899183873 | JCAD | c.3420G= (p.Val1140=) c.3006G= (p.Val1002=) | |
| 10 | g.30026728C>G | CA468974583 | JCAD | c.3420G>C (p.Val1140=) c.3006G>C (p.Val1002=) | |
| 10 | g.30026728C>T | CA468974584 | JCAD | c.3420G>A (p.Val1140=) c.3006G>A (p.Val1002=) | dbSNP gnomAD v4 |
| 10 | g.30026729A>C | CA376420874 | JCAD | c.3419T>G (p.Val1140Gly) c.3005T>G (p.Val1002Gly) | |
| 10 | g.30026729A>G | CA376420876 | JCAD | c.3419T>C (p.Val1140Ala) c.3005T>C (p.Val1002Ala) | gnomAD v4 |
| 10 | g.30026729A>T | CA376420873 | JCAD | c.3419T>A (p.Val1140Glu) c.3005T>A (p.Val1002Glu) | |
| 10 | g.30026730C>A | CA376420880 | JCAD | c.3418G>T (p.Val1140Leu) c.3004G>T (p.Val1002Leu) | gnomAD v4 |
| 10 | g.30026730C>G | CA376420882 | JCAD | c.3418G>C (p.Val1140Leu) c.3004G>C (p.Val1002Leu) | |
| 10 | g.30026730C>T | CA376420884 | JCAD | c.3418G>A (p.Val1140Met) c.3004G>A (p.Val1002Met) | gnomAD v4 |
| 10 | g.30026731C>A | CA376420887 | JCAD | c.3417G>T (p.Arg1139Ser) c.3003G>T (p.Arg1001Ser) | |
| 10 | g.30026731C= | CA1899183874 | JCAD | c.3417G= (p.Arg1139=) c.3003G= (p.Arg1001=) | |
| 10 | g.30026731C>G | CA376420889 | JCAD | c.3417G>C (p.Arg1139Ser) c.3003G>C (p.Arg1001Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026731C>T | CA468974588 | JCAD | c.3417G>A (p.Arg1139=) c.3003G>A (p.Arg1001=) | gnomAD v4 |
| 10 | g.30026732C>A | CA376420896 | JCAD | c.3416G>T (p.Arg1139Met) c.3002G>T (p.Arg1001Met) | |
| 10 | g.30026732C>G | CA376420894 | JCAD | c.3416G>C (p.Arg1139Thr) c.3002G>C (p.Arg1001Thr) | |
| 10 | g.30026732C>T | CA376420893 | JCAD | c.3416G>A (p.Arg1139Lys) c.3002G>A (p.Arg1001Lys) | |
| 10 | g.30026733T>A | CA376420899 | JCAD | c.3415A>T (p.Arg1139Trp) c.3001A>T (p.Arg1001Trp) | |
| 10 | g.30026733T>C | CA376420900 | JCAD | c.3415A>G (p.Arg1139Gly) c.3001A>G (p.Arg1001Gly) | |
| 10 | g.30026733T>G | CA468974590 | JCAD | c.3415A>C (p.Arg1139=) c.3001A>C (p.Arg1001=) | |
| 10 | g.30026734G>A | CA5458140 | JCAD | c.3414C>T (p.Pro1138=) c.3000C>T (p.Pro1000=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026734G>C | CA468974593 | JCAD | c.3414C>G (p.Pro1138=) c.3000C>G (p.Pro1000=) | |
| 10 | g.30026734G= | CA1899183875 | JCAD | c.3414C= (p.Pro1138=) c.3000C= (p.Pro1000=) | |
| 10 | g.30026734G>T | CA468974594 | JCAD | c.3414C>A (p.Pro1138=) c.3000C>A (p.Pro1000=) | |
| 10 | g.30026735G>A | CA376420902 | JCAD | c.3413C>T (p.Pro1138Leu) c.2999C>T (p.Pro1000Leu) | |
| 10 | g.30026735G>C | CA376420904 | JCAD | c.3413C>G (p.Pro1138Arg) c.2999C>G (p.Pro1000Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.30026735G= | CA1899183876 | JCAD | c.3413C= (p.Pro1138=) c.2999C= (p.Pro1000=) | |
| 10 | g.30026735G>T | CA376420906 | JCAD | c.3413C>A (p.Pro1138His) c.2999C>A (p.Pro1000His) | |
| 10 | g.30026736G>A | CA376420908 | JCAD | c.3412C>T (p.Pro1138Ser) c.2998C>T (p.Pro1000Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.30026736G>C | CA376420913 | JCAD | c.3412C>G (p.Pro1138Ala) c.2998C>G (p.Pro1000Ala) | |
| 10 | g.30026736G= | CA1899183877 | JCAD | c.3412C= (p.Pro1138=) c.2998C= (p.Pro1000=) | |
| 10 | g.30026736G>T | CA376420910 | JCAD | c.3412C>A (p.Pro1138Thr) c.2998C>A (p.Pro1000Thr) | |
| 10 | g.30026737G>A | CA468974596 | JCAD | c.3411C>T (p.Val1137=) c.2997C>T (p.Val999=) | gnomAD v4 |
| 10 | g.30026737G>C | CA468974597 | JCAD | c.3411C>G (p.Val1137=) c.2997C>G (p.Val999=) | |
| 10 | g.30026737G>T | CA468974598 | JCAD | c.3411C>A (p.Val1137=) c.2997C>A (p.Val999=) | |
| 10 | g.30026738A>C | CA376420915 | JCAD | c.3410T>G (p.Val1137Gly) c.2996T>G (p.Val999Gly) | |
| 10 | g.30026738A>G | CA376420916 | JCAD | c.3410T>C (p.Val1137Ala) c.2996T>C (p.Val999Ala) | |
| 10 | g.30026738A>T | CA376420917 | JCAD | c.3410T>A (p.Val1137Asp) c.2996T>A (p.Val999Asp) | |
| 10 | g.30026739C>A | CA376420918 | JCAD | c.3409G>T (p.Val1137Phe) c.2995G>T (p.Val999Phe) | |
| 10 | g.30026739C= | CA1899183878 | JCAD | c.3409G= (p.Val1137=) c.2995G= (p.Val999=) | |
| 10 | g.30026739C>G | CA376420919 | JCAD | c.3409G>C (p.Val1137Leu) c.2995G>C (p.Val999Leu) | |
| 10 | g.30026739C>T | CA376420920 | JCAD | c.3409G>A (p.Val1137Ile) c.2995G>A (p.Val999Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30026740A>C | CA376420921 | JCAD | c.3408T>G (p.Asp1136Glu) c.2994T>G (p.Asp998Glu) | |
| 10 | g.30026740A>G | CA468974602 | JCAD | c.3408T>C (p.Asp1136=) c.2994T>C (p.Asp998=) | |
| 10 | g.30026740A>T | CA376420922 | JCAD | c.3408T>A (p.Asp1136Glu) c.2994T>A (p.Asp998Glu) | |
| 10 | g.30026741T>A | CA376420923 | JCAD | c.3407A>T (p.Asp1136Val) c.2993A>T (p.Asp998Val) | |
| 10 | g.30026741T>C | CA376420924 | JCAD | c.3407A>G (p.Asp1136Gly) c.2993A>G (p.Asp998Gly) | |
| 10 | g.30026741T>G | CA376420925 | JCAD | c.3407A>C (p.Asp1136Ala) c.2993A>C (p.Asp998Ala) | gnomAD v4 |
| 10 | g.30026742C>A | CA376420931 | JCAD | c.3406G>T (p.Asp1136Tyr) c.2992G>T (p.Asp998Tyr) | |
| 10 | g.30026742C>G | CA376420929 | JCAD | c.3406G>C (p.Asp1136His) c.2992G>C (p.Asp998His) | |
| 10 | g.30026742C>T | CA376420928 | JCAD | c.3406G>A (p.Asp1136Asn) c.2992G>A (p.Asp998Asn) | |
| 10 | g.30026743T>A | CA468974605 | JCAD | c.3405A>T (p.Ala1135=) c.2991A>T (p.Ala997=) | |
| 10 | g.30026743T>C | CA468974606 | JCAD | c.3405A>G (p.Ala1135=) c.2991A>G (p.Ala997=) | |
| 10 | g.30026743T>G | CA468974607 | JCAD | c.3405A>C (p.Ala1135=) c.2991A>C (p.Ala997=) | |
| 10 | g.30026744G>A | CA376420935 | JCAD | c.3404C>T (p.Ala1135Val) c.2990C>T (p.Ala997Val) | gnomAD v4 |
| 10 | g.30026744G>C | CA376420939 | JCAD | c.3404C>G (p.Ala1135Gly) c.2990C>G (p.Ala997Gly) | |
| 10 | g.30026744G>T | CA376420937 | JCAD | c.3404C>A (p.Ala1135Glu) c.2990C>A (p.Ala997Glu) | |
| 10 | g.30026745C>A | CA376420942 | JCAD | c.3403G>T (p.Ala1135Ser) c.2989G>T (p.Ala997Ser) | |
| 10 | g.30026745C>G | CA376420947 | JCAD | c.3403G>C (p.Ala1135Pro) c.2989G>C (p.Ala997Pro) | |
| 10 | g.30026745C>T | CA376420945 | JCAD | c.3403G>A (p.Ala1135Thr) c.2989G>A (p.Ala997Thr) | gnomAD v4 |
| 10 | g.30026746C>A | CA468974611 | JCAD | c.3402G>T (p.Pro1134=) c.2988G>T (p.Pro996=) | |
| 10 | g.30026746C= | CA1899183879 | JCAD | c.3402G= (p.Pro1134=) c.2988G= (p.Pro996=) | |
| 10 | g.30026746C>G | CA468974612 | JCAD | c.3402G>C (p.Pro1134=) c.2988G>C (p.Pro996=) | |
| 10 | g.30026746C>T | CA5458141 | JCAD | c.3402G>A (p.Pro1134=) c.2988G>A (p.Pro996=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30026747G>A | CA5458142 | JCAD | c.3401C>T (p.Pro1134Leu) c.2987C>T (p.Pro996Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026747G>C | CA376420950 | JCAD | c.3401C>G (p.Pro1134Arg) c.2987C>G (p.Pro996Arg) | |
| 10 | g.30026747G= | CA1899183880 | JCAD | c.3401C= (p.Pro1134=) c.2987C= (p.Pro996=) | |
| 10 | g.30026747G>T | CA376420953 | JCAD | c.3401C>A (p.Pro1134Gln) c.2987C>A (p.Pro996Gln) | |
| 10 | g.30026748G>A | CA376420956 | JCAD | c.3400C>T (p.Pro1134Ser) c.2986C>T (p.Pro996Ser) | |
| 10 | g.30026748G>C | CA376420958 | JCAD | c.3400C>G (p.Pro1134Ala) c.2986C>G (p.Pro996Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026748G= | CA1899183881 | JCAD | c.3400C= (p.Pro1134=) c.2986C= (p.Pro996=) | |
| 10 | g.30026748G>T | CA376420960 | JCAD | c.3400C>A (p.Pro1134Thr) c.2986C>A (p.Pro996Thr) | |
| 10 | g.30026749T>A | CA468974616 | JCAD | c.3399A>T (p.Ala1133=) c.2985A>T (p.Ala995=) | |
| 10 | g.30026749T>C | CA5458143 | JCAD | c.3399A>G (p.Ala1133=) c.2985A>G (p.Ala995=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026749T>G | CA468974618 | JCAD | c.3399A>C (p.Ala1133=) c.2985A>C (p.Ala995=) | |
| 10 | g.30026749T= | CA1899183882 | JCAD | c.3399A= (p.Ala1133=) c.2985A= (p.Ala995=) | |
| 10 | g.30026750G>A | CA376420966 | JCAD | c.3398C>T (p.Ala1133Val) c.2984C>T (p.Ala995Val) | |
| 10 | g.30026750G>C | CA376420968 | JCAD | c.3398C>G (p.Ala1133Gly) c.2984C>G (p.Ala995Gly) | |
| 10 | g.30026750G>T | CA376420969 | JCAD | c.3398C>A (p.Ala1133Glu) c.2984C>A (p.Ala995Glu) | |
| 10 | g.30026751C>A | CA376420972 | JCAD | c.3397G>T (p.Ala1133Ser) c.2983G>T (p.Ala995Ser) | |
| 10 | g.30026751C= | CA1899183883 | JCAD | c.3397G= (p.Ala1133=) c.2983G= (p.Ala995=) | |
| 10 | g.30026751C>G | CA376420975 | JCAD | c.3397G>C (p.Ala1133Pro) c.2983G>C (p.Ala995Pro) | |
| 10 | g.30026751C>T | CA376420973 | JCAD | c.3397G>A (p.Ala1133Thr) c.2983G>A (p.Ala995Thr) | dbSNP |
| 10 | g.30026752T>A | CA468974620 | JCAD | c.3396A>T (p.Pro1132=) c.2982A>T (p.Pro994=) | |
| 10 | g.30026752T>C | CA468974621 | JCAD | c.3396A>G (p.Pro1132=) c.2982A>G (p.Pro994=) | |
| 10 | g.30026752T>G | CA468974622 | JCAD | c.3396A>C (p.Pro1132=) c.2982A>C (p.Pro994=) | |
| 10 | g.30026753G>A | CA376420978 | JCAD | c.3395C>T (p.Pro1132Leu) c.2981C>T (p.Pro994Leu) | |
| 10 | g.30026753G>C | CA376420981 | JCAD | c.3395C>G (p.Pro1132Arg) c.2981C>G (p.Pro994Arg) | |
| 10 | g.30026753G>T | CA376420983 | JCAD | c.3395C>A (p.Pro1132Gln) c.2981C>A (p.Pro994Gln) | |
| 10 | g.30026754G>A | CA376420984 | JCAD | c.3394C>T (p.Pro1132Ser) c.2980C>T (p.Pro994Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026754G>C | CA376420985 | JCAD | c.3394C>G (p.Pro1132Ala) c.2980C>G (p.Pro994Ala) | |
| 10 | g.30026754G= | CA1899183884 | JCAD | c.3394C= (p.Pro1132=) c.2980C= (p.Pro994=) | |
| 10 | g.30026754G>T | CA376420986 | JCAD | c.3394C>A (p.Pro1132Thr) c.2980C>A (p.Pro994Thr) | |
| 10 | g.30026755G>A | CA468974625 | JCAD | c.3393C>T (p.Arg1131=) c.2979C>T (p.Arg993=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026755G>C | CA468974626 | JCAD | c.3393C>G (p.Arg1131=) c.2979C>G (p.Arg993=) | |
| 10 | g.30026755G= | CA1899183885 | JCAD | c.3393C= (p.Arg1131=) c.2979C= (p.Arg993=) | |
| 10 | g.30026755G>T | CA468974628 | JCAD | c.3393C>A (p.Arg1131=) c.2979C>A (p.Arg993=) | |
| 10 | g.30026756C>A | CA376420987 | JCAD | c.3392G>T (p.Arg1131Leu) c.2978G>T (p.Arg993Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026756C= | CA1899183886 | JCAD | c.3392G= (p.Arg1131=) c.2978G= (p.Arg993=) | |
| 10 | g.30026756C>G | CA376420988 | JCAD | c.3392G>C (p.Arg1131Pro) c.2978G>C (p.Arg993Pro) | |
| 10 | g.30026756C>T | CA5458144 | JCAD | c.3392G>A (p.Arg1131His) c.2978G>A (p.Arg993His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.30026757G>A | CA5458145 | JCAD | c.3391C>T (p.Arg1131Cys) c.2977C>T (p.Arg993Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.30026757G>C | CA376420994 | JCAD | c.3391C>G (p.Arg1131Gly) c.2977C>G (p.Arg993Gly) | |
| 10 | g.30026757G= | CA1899183887 | JCAD | c.3391C= (p.Arg1131=) c.2977C= (p.Arg993=) | |
| 10 | g.30026757G>T | CA376420991 | JCAD | c.3391C>A (p.Arg1131Ser) c.2977C>A (p.Arg993Ser) | |
| 10 | g.30026758A>C | CA468974630 | JCAD | c.3390T>G (p.Ser1130=) c.2976T>G (p.Ser992=) | |
| 10 | g.30026758A>G | CA468974632 | JCAD | c.3390T>C (p.Ser1130=) c.2976T>C (p.Ser992=) | |
| 10 | g.30026758A>T | CA468974631 | JCAD | c.3390T>A (p.Ser1130=) c.2976T>A (p.Ser992=) | |
| 10 | g.30026759G>A | CA376420998 | JCAD | c.3389C>T (p.Ser1130Phe) c.2975C>T (p.Ser992Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026759G>C | CA376421000 | JCAD | c.3389C>G (p.Ser1130Cys) c.2975C>G (p.Ser992Cys) | |
| 10 | g.30026759G= | CA1899183888 | JCAD | c.3389C= (p.Ser1130=) c.2975C= (p.Ser992=) | |
| 10 | g.30026759G>T | CA376421002 | JCAD | c.3389C>A (p.Ser1130Tyr) c.2975C>A (p.Ser992Tyr) | |
| 10 | g.30026760A>C | CA376421004 | JCAD | c.3388T>G (p.Ser1130Ala) c.2974T>G (p.Ser992Ala) | |
| 10 | g.30026760A>G | CA376421005 | JCAD | c.3388T>C (p.Ser1130Pro) c.2974T>C (p.Ser992Pro) | |
| 10 | g.30026760A>T | CA376421007 | JCAD | c.3388T>A (p.Ser1130Thr) c.2974T>A (p.Ser992Thr) | |
| 10 | g.30026761T>A | CA468974635 | JCAD | c.3387A>T (p.Leu1129=) c.2973A>T (p.Leu991=) | |
| 10 | g.30026761T>C | CA5458146 | JCAD | c.3387A>G (p.Leu1129=) c.2973A>G (p.Leu991=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.30026761T>G | CA468974639 | JCAD | c.3387A>C (p.Leu1129=) c.2973A>C (p.Leu991=) | |
| 10 | g.30026761T= | CA1899183889 | JCAD | c.3387A= (p.Leu1129=) c.2973A= (p.Leu991=) | |
| 10 | g.30026762A= | CA1899183890 | JCAD | c.3386T= (p.Leu1129=) c.2972T= (p.Leu991=) | |
| 10 | g.30026762A>C | CA376421012 | JCAD | c.3386T>G (p.Leu1129Arg) c.2972T>G (p.Leu991Arg) | |
| 10 | g.30026762A>G | CA5458147 | JCAD | c.3386T>C (p.Leu1129Pro) c.2972T>C (p.Leu991Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026762A>T | CA376421017 | JCAD | c.3386T>A (p.Leu1129Gln) c.2972T>A (p.Leu991Gln) | |
| 10 | g.30026763G>A | CA468974642 | JCAD | c.3385C>T (p.Leu1129=) c.2971C>T (p.Leu991=) | dbSNP |
| 10 | g.30026763G>C | CA376421022 | JCAD | c.3385C>G (p.Leu1129Val) c.2971C>G (p.Leu991Val) | gnomAD v4 |
| 10 | g.30026763G= | CA1899183891 | JCAD | c.3385C= (p.Leu1129=) c.2971C= (p.Leu991=) | |
| 10 | g.30026763G>T | CA376421024 | JCAD | c.3385C>A (p.Leu1129Ile) c.2971C>A (p.Leu991Ile) | |
| 10 | g.30026764C>A | CA376421034 | JCAD | c.3384G>T (p.Leu1128Phe) c.2970G>T (p.Leu990Phe) | |
| 10 | g.30026764C= | CA1899183892 | JCAD | c.3384G= (p.Leu1128=) c.2970G= (p.Leu990=) | |
| 10 | g.30026764C>G | CA376421028 | JCAD | c.3384G>C (p.Leu1128Phe) c.2970G>C (p.Leu990Phe) | |
| 10 | g.30026764C>T | CA5458148 | JCAD | c.3384G>A (p.Leu1128=) c.2970G>A (p.Leu990=) | dbSNP ExAC |
| 10 | g.30026764_30026765delinsCA | CA1899183893 | JCAD | c.3383_3384delinsTG (p.Leu1128=) c.2969_2970delinsTG (p.Leu990=) | |
| 10 | g.30026765A>C | CA376421039 | JCAD | c.3383T>G (p.Leu1128Trp) c.2969T>G (p.Leu990Trp) | |
| 10 | g.30026765A>G | CA376421041 | JCAD | c.3383T>C (p.Leu1128Ser) c.2969T>C (p.Leu990Ser) | |
| 10 | g.30026765A>T | CA376421043 | JCAD | c.3383T>A (p.Leu1128Ter) c.2969T>A (p.Leu990Ter) | |
| 10 | g.30026766del | CA592781459 | JCAD | c.3383del (p.Leu1128CysfsTer?) c.2969del (p.Leu990CysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026766A= | CA1899183894 | JCAD | c.3382T= (p.Leu1128=) c.2968T= (p.Leu990=) | |
| 10 | g.30026766A>C | CA376421045 | JCAD | c.3382T>G (p.Leu1128Val) c.2968T>G (p.Leu990Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.30026766A>G | CA205267567 | JCAD | c.3382T>C (p.Leu1128=) c.2968T>C (p.Leu990=) | dbSNP gnomAD v4 |
| 10 | g.30026766A>T | CA376421047 | JCAD | c.3382T>A (p.Leu1128Met) c.2968T>A (p.Leu990Met) | |
| 10 | g.30026767C>A | CA376421049 | JCAD | c.3381G>T (p.Glu1127Asp) c.2967G>T (p.Glu989Asp) | |
| 10 | g.30026767C>G | CA376421052 | JCAD | c.3381G>C (p.Glu1127Asp) c.2967G>C (p.Glu989Asp) | gnomAD v4 |
| 10 | g.30026767C>T | CA468974650 | JCAD | c.3381G>A (p.Glu1127=) c.2967G>A (p.Glu989=) | |
| 10 | g.30026768T>A | CA376421059 | JCAD | c.3380A>T (p.Glu1127Val) c.2966A>T (p.Glu989Val) | gnomAD v4 |
| 10 | g.30026768T>C | CA376421061 | JCAD | c.3380A>G (p.Glu1127Gly) c.2966A>G (p.Glu989Gly) | |
| 10 | g.30026768T>G | CA376421063 | JCAD | c.3380A>C (p.Glu1127Ala) c.2966A>C (p.Glu989Ala) | |
| 10 | g.30026769C>A | CA376421067 | JCAD | c.3379G>T (p.Glu1127Ter) c.2965G>T (p.Glu989Ter) | gnomAD v4 |
| 10 | g.30026769C>G | CA376421069 | JCAD | c.3379G>C (p.Glu1127Gln) c.2965G>C (p.Glu989Gln) | |
| 10 | g.30026769C>T | CA376421071 | JCAD | c.3379G>A (p.Glu1127Lys) c.2965G>A (p.Glu989Lys) | |
| 10 | g.30026770T>A | CA376421077 | JCAD | c.3378A>T (p.Glu1126Asp) c.2964A>T (p.Glu988Asp) | |
| 10 | g.30026770T>C | CA5458149 | JCAD | c.3378A>G (p.Glu1126=) c.2964A>G (p.Glu988=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.30026770T>G | CA376421074 | JCAD | c.3378A>C (p.Glu1126Asp) c.2964A>C (p.Glu988Asp) | |
| 10 | g.30026770T= | CA1899183895 | JCAD | c.3378A= (p.Glu1126=) c.2964A= (p.Glu988=) | |
| 10 | g.30026771T>A | CA376421091 | JCAD | c.3377A>T (p.Glu1126Val) c.2963A>T (p.Glu988Val) | |
| 10 | g.30026771T>C | CA376421082 | JCAD | c.3377A>G (p.Glu1126Gly) c.2963A>G (p.Glu988Gly) | |
| 10 | g.30026771T>G | CA376421084 | JCAD | c.3377A>C (p.Glu1126Ala) c.2963A>C (p.Glu988Ala) | |
| 10 | g.30026772C>A | CA376421093 | JCAD | c.3376G>T (p.Glu1126Ter) c.2962G>T (p.Glu988Ter) | |
| 10 | g.30026772C>G | CA376421096 | JCAD | c.3376G>C (p.Glu1126Gln) c.2962G>C (p.Glu988Gln) | |
| 10 | g.30026772C>T | CA376421098 | JCAD | c.3376G>A (p.Glu1126Lys) c.2962G>A (p.Glu988Lys) | COSMIC |
| 10 | g.30026773C>A | CA376421102 | JCAD | c.3375G>T (p.Gln1125His) c.2961G>T (p.Gln987His) | |
| 10 | g.30026773C= | CA1899183896 | JCAD | c.3375G= (p.Gln1125=) c.2961G= (p.Gln987=) | |
| 10 | g.30026773C>G | CA376421104 | JCAD | c.3375G>C (p.Gln1125His) c.2961G>C (p.Gln987His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026773C>T | CA468974659 | JCAD | c.3375G>A (p.Gln1125=) c.2961G>A (p.Gln987=) | gnomAD v4 |
| 10 | g.30026774T>A | CA376421108 | JCAD | c.3374A>T (p.Gln1125Leu) c.2960A>T (p.Gln987Leu) | |
| 10 | g.30026774T>C | CA376421111 | JCAD | c.3374A>G (p.Gln1125Arg) c.2960A>G (p.Gln987Arg) | gnomAD v4 |
| 10 | g.30026774T>G | CA376421109 | JCAD | c.3374A>C (p.Gln1125Pro) c.2960A>C (p.Gln987Pro) | |
| 10 | g.30026774_30026775delinsTG | CA1899183897 | JCAD | c.3373_3374delinsCA (p.Gln1125=) c.2959_2960delinsCA (p.Gln987=) | |
| 10 | g.30026775G>A | CA376421112 | JCAD | c.3373C>T (p.Gln1125Ter) c.2959C>T (p.Gln987Ter) | |
| 10 | g.30026775G>C | CA376421113 | JCAD | c.3373C>G (p.Gln1125Glu) c.2959C>G (p.Gln987Glu) | |
| 10 | g.30026775G>T | CA376421115 | JCAD | c.3373C>A (p.Gln1125Lys) c.2959C>A (p.Gln987Lys) | gnomAD v4 |
| 10 | g.30026780dup | CA592781460 | JCAD | c.3373dup (p.Gln1125ProfsTer19) c.2959dup (p.Gln987ProfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.30026780del | CA10605204 | JCAD | c.3373del (p.Gln1125ArgfsTer?) c.2959del (p.Gln987ArgfsTer?) | ClinVar dbSNP COSMIC |
| 10 | g.30026776G>A | CA468974568 | JCAD | c.3372C>T (p.Pro1124=) c.2958C>T (p.Pro986=) | |
| 10 | g.30026776G>C | CA468974569 | JCAD | c.3372C>G (p.Pro1124=) c.2958C>G (p.Pro986=) | |
| 10 | g.30026776G>T | CA468974570 | JCAD | c.3372C>A (p.Pro1124=) c.2958C>A (p.Pro986=) | |
| 10 | g.30026777G>A | CA376421118 | JCAD | c.3371C>T (p.Pro1124Leu) c.2957C>T (p.Pro986Leu) | gnomAD v4 |
| 10 | g.30026777G>C | CA376421121 | JCAD | c.3371C>G (p.Pro1124Arg) c.2957C>G (p.Pro986Arg) | gnomAD v4 |
| 10 | g.30026777G>T | CA376421120 | JCAD | c.3371C>A (p.Pro1124His) c.2957C>A (p.Pro986His) | |
| 10 | g.30026778G>A | CA376421124 | JCAD | c.3370C>T (p.Pro1124Ser) c.2956C>T (p.Pro986Ser) | dbSNP gnomAD v2 |
| 10 | g.30026778G>C | CA376421128 | JCAD | c.3370C>G (p.Pro1124Ala) c.2956C>G (p.Pro986Ala) | |
| 10 | g.30026778G= | CA1899183898 | JCAD | c.3370C= (p.Pro1124=) c.2956C= (p.Pro986=) | |
| 10 | g.30026778G>T | CA376421130 | JCAD | c.3370C>A (p.Pro1124Thr) c.2956C>A (p.Pro986Thr) | |
| 10 | g.30026779G>A | CA468974573 | JCAD | c.3369C>T (p.Ser1123=) c.2955C>T (p.Ser985=) | gnomAD v4 |
| 10 | g.30026779G>C | CA468974574 | JCAD | c.3369C>G (p.Ser1123=) c.2955C>G (p.Ser985=) | |
| 10 | g.30026779G= | CA1899183899 | JCAD | c.3369C= (p.Ser1123=) c.2955C= (p.Ser985=) | |
| 10 | g.30026779G>T | CA468974575 | JCAD | c.3369C>A (p.Ser1123=) c.2955C>A (p.Ser985=) | dbSNP |
| 10 | g.30026780G>A | CA376421132 | JCAD | c.3368C>T (p.Ser1123Phe) c.2954C>T (p.Ser985Phe) | gnomAD v4 |
| 10 | g.30026780G>C | CA376421133 | JCAD | c.3368C>G (p.Ser1123Cys) c.2954C>G (p.Ser985Cys) | gnomAD v4 |
| 10 | g.30026780G= | CA1899183900 | JCAD | c.3368C= (p.Ser1123=) c.2954C= (p.Ser985=) | |
| 10 | g.30026780G>T | CA5458150 | JCAD | c.3368C>A (p.Ser1123Tyr) c.2954C>A (p.Ser985Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |