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 |
|---|---|---|---|---|---|
| 19 | g.50417855A= | CA2340891460 | POLD1 | c.3232A= (p.Ile1078=) n.3423A= c.3238A= (p.Ile1080=) c.3310A= (p.Ile1104=) c.3160A= (p.Ile1054=) c.805A= n.257A= n.576A= c.426+586A= c.*99A= (n.*99A=) n.3198A= n.3174A= | |
| 19 | g.50417855A>C | CA406987703 | POLD1 | c.3232A>C (p.Ile1078Leu) n.3423A>C c.3238A>C (p.Ile1080Leu) c.3310A>C (p.Ile1104Leu) c.3160A>C (p.Ile1054Leu) c.805A>C n.257A>C n.576A>C c.426+586A>C c.*99A>C (n.*99A>C) n.3198A>C n.3174A>C | ClinVar |
| 19 | g.50417855A>G | CA16616208 | POLD1 | c.3232A>G (p.Ile1078Val) n.3423A>G c.3238A>G (p.Ile1080Val) c.3310A>G (p.Ile1104Val) c.3160A>G (p.Ile1054Val) c.805A>G n.257A>G n.576A>G c.426+586A>G c.*99A>G (n.*99A>G) n.3198A>G n.3174A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.50417855A>T | CA406987704 | POLD1 | c.3232A>T (p.Ile1078Phe) n.3423A>T c.3238A>T (p.Ile1080Phe) c.3310A>T (p.Ile1104Phe) c.3160A>T (p.Ile1054Phe) c.805A>T n.257A>T n.576A>T c.426+586A>T c.*99A>T (n.*99A>T) n.3198A>T n.3174A>T | ClinVar |
| 19 | g.50417855_50417858delinsATCT | CA2340891461 | POLD1 | c.3232_3235delinsATCT (p.Ile1078=) n.3423_3426delinsATCT c.3238_3241delinsATCT (p.Ile1080=) c.3310_3313delinsATCT (p.Ile1104=) c.3160_3163delinsATCT (p.Ile1054=) c.805_808delinsATCT n.257_260delinsATCT n.576_579delinsATCT c.426+586_426+589delinsATCT c.*99_*102delinsATCT (n.*99_*102delinsATCT) n.3198_3201delinsATCT n.3174_3177delinsATCT | |
| 19 | g.50417856T>A | CA406987705 | POLD1 | c.3233T>A (p.Ile1078Asn) n.3424T>A c.3239T>A (p.Ile1080Asn) c.3311T>A (p.Ile1104Asn) c.3161T>A (p.Ile1054Asn) c.806T>A n.258T>A n.577T>A c.426+587T>A c.*100T>A (n.*100T>A) n.3199T>A n.3175T>A | |
| 19 | g.50417856T>C | CA406987706 | POLD1 | c.3233T>C (p.Ile1078Thr) n.3424T>C c.3239T>C (p.Ile1080Thr) c.3311T>C (p.Ile1104Thr) c.3161T>C (p.Ile1054Thr) c.806T>C n.258T>C n.577T>C c.426+587T>C c.*100T>C (n.*100T>C) n.3199T>C n.3175T>C | ClinVar dbSNP |
| 19 | g.50417856T>G | CA406987708 | POLD1 | c.3233T>G (p.Ile1078Ser) n.3424T>G c.3239T>G (p.Ile1080Ser) c.3311T>G (p.Ile1104Ser) c.3161T>G (p.Ile1054Ser) c.806T>G n.258T>G n.577T>G c.426+587T>G c.*100T>G (n.*100T>G) n.3199T>G n.3175T>G | |
| 19 | g.50417856T= | CA2340891462 | POLD1 | c.3233T= (p.Ile1078=) n.3424T= c.3239T= (p.Ile1080=) c.3311T= (p.Ile1104=) c.3161T= (p.Ile1054=) c.806T= n.258T= n.577T= c.426+587T= c.*100T= (n.*100T=) n.3199T= n.3175T= | |
| 19 | g.50417859_50417861del | CA915951901 | POLD1 | c.3236_3238del (p.Phe1079del) n.3427_3429del c.3242_3244del (p.Phe1081del) c.3314_3316del (p.Phe1105del) c.3164_3166del (p.Phe1055del) c.809_811del n.261_263del n.580_582del c.426+590_426+592del c.*103_*105del (n.*103_*105del) n.3202_3204del n.3178_3180del | ClinVar dbSNP |
| 19 | g.50417857C>A | CA508186713 | POLD1 | c.3234C>A (p.Ile1078=) n.3425C>A c.3240C>A (p.Ile1080=) c.3312C>A (p.Ile1104=) c.3162C>A (p.Ile1054=) c.807C>A n.259C>A n.578C>A c.426+588C>A c.*101C>A (n.*101C>A) n.3200C>A n.3176C>A | ClinVar gnomAD v4 |
| 19 | g.50417857C>G | CA406987709 | POLD1 | c.3234C>G (p.Ile1078Met) n.3425C>G c.3240C>G (p.Ile1080Met) c.3312C>G (p.Ile1104Met) c.3162C>G (p.Ile1054Met) c.807C>G n.259C>G n.578C>G c.426+588C>G c.*101C>G (n.*101C>G) n.3200C>G n.3176C>G | gnomAD v4 |
| 19 | g.50417857C>T | CA508186714 | POLD1 | c.3234C>T (p.Ile1078=) n.3425C>T c.3240C>T (p.Ile1080=) c.3312C>T (p.Ile1104=) c.3162C>T (p.Ile1054=) c.807C>T n.259C>T n.578C>T c.426+588C>T c.*101C>T (n.*101C>T) n.3200C>T n.3176C>T | ClinVar dbSNP |
| 19 | g.50417858T>A | CA406987711 | POLD1 | c.3235T>A (p.Phe1079Ile) n.3426T>A c.3241T>A (p.Phe1081Ile) c.3313T>A (p.Phe1105Ile) c.3163T>A (p.Phe1055Ile) c.808T>A n.260T>A n.579T>A c.426+589T>A c.*102T>A (n.*102T>A) n.3201T>A n.3177T>A | |
| 19 | g.50417858T>C | CA406987713 | POLD1 | c.3235T>C (p.Phe1079Leu) n.3426T>C c.3241T>C (p.Phe1081Leu) c.3313T>C (p.Phe1105Leu) c.3163T>C (p.Phe1055Leu) c.808T>C n.260T>C n.579T>C c.426+589T>C c.*102T>C (n.*102T>C) n.3201T>C n.3177T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.50417858T>G | CA406987714 | POLD1 | c.3235T>G (p.Phe1079Val) n.3426T>G c.3241T>G (p.Phe1081Val) c.3313T>G (p.Phe1105Val) c.3163T>G (p.Phe1055Val) c.808T>G n.260T>G n.579T>G c.426+589T>G c.*102T>G (n.*102T>G) n.3201T>G n.3177T>G | gnomAD v4 |
| 19 | g.50417859del | CA2573156790 | POLD1 | c.3236del (p.Phe1079SerfsTer?) n.3427del c.3242del (p.Phe1081SerfsTer?) c.3314del (p.Phe1105SerfsTer?) c.3164del (p.Phe1055SerfsTer?) c.809del n.261del n.580del c.426+590del c.*103del (n.*103del) n.3202del n.3178del | ClinVar dbSNP |
| 19 | g.50417859T>A | CA406987716 | POLD1 | c.3236T>A (p.Phe1079Tyr) n.3427T>A c.3242T>A (p.Phe1081Tyr) c.3314T>A (p.Phe1105Tyr) c.3164T>A (p.Phe1055Tyr) c.809T>A n.261T>A n.580T>A c.426+590T>A c.*103T>A (n.*103T>A) n.3202T>A n.3178T>A | ClinVar |
| 19 | g.50417859T>C | CA406987718 | POLD1 | c.3236T>C (p.Phe1079Ser) n.3427T>C c.3242T>C (p.Phe1081Ser) c.3314T>C (p.Phe1105Ser) c.3164T>C (p.Phe1055Ser) c.809T>C n.261T>C n.580T>C c.426+590T>C c.*103T>C (n.*103T>C) n.3202T>C n.3178T>C | |
| 19 | g.50417859T>G | CA406987719 | POLD1 | c.3236T>G (p.Phe1079Cys) n.3427T>G c.3242T>G (p.Phe1081Cys) c.3314T>G (p.Phe1105Cys) c.3164T>G (p.Phe1055Cys) c.809T>G n.261T>G n.580T>G c.426+590T>G c.*103T>G (n.*103T>G) n.3202T>G n.3178T>G | |
| 19 | g.50417860C>A | CA406987723 | POLD1 | c.3237C>A (p.Phe1079Leu) n.3428C>A c.3243C>A (p.Phe1081Leu) c.3315C>A (p.Phe1105Leu) c.3165C>A (p.Phe1055Leu) c.810C>A n.262C>A n.581C>A c.426+591C>A c.*104C>A (n.*104C>A) n.3203C>A n.3179C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.50417860C= | CA2340891463 | POLD1 | c.3237C= (p.Phe1079=) n.3428C= c.3243C= (p.Phe1081=) c.3315C= (p.Phe1105=) c.3165C= (p.Phe1055=) c.810C= n.262C= n.581C= c.426+591C= c.*104C= (n.*104C=) n.3203C= n.3179C= | |
| 19 | g.50417860C>G | CA406987722 | POLD1 | c.3237C>G (p.Phe1079Leu) n.3428C>G c.3243C>G (p.Phe1081Leu) c.3315C>G (p.Phe1105Leu) c.3165C>G (p.Phe1055Leu) c.810C>G n.262C>G n.581C>G c.426+591C>G c.*104C>G (n.*104C>G) n.3203C>G n.3179C>G | |
| 19 | g.50417860C>T | CA508186715 | POLD1 | c.3237C>T (p.Phe1079=) n.3428C>T c.3243C>T (p.Phe1081=) c.3315C>T (p.Phe1105=) c.3165C>T (p.Phe1055=) c.810C>T n.262C>T n.581C>T c.426+591C>T c.*104C>T (n.*104C>T) n.3203C>T n.3179C>T | ClinVar dbSNP |
| 19 | g.50417861T>A | CA406987725 | POLD1 | c.3238T>A (p.Tyr1080Asn) n.3429T>A c.3244T>A (p.Tyr1082Asn) c.3316T>A (p.Tyr1106Asn) c.3166T>A (p.Tyr1056Asn) c.811T>A n.263T>A n.582T>A c.426+592T>A c.*105T>A (n.*105T>A) n.3204T>A n.3180T>A | |
| 19 | g.50417861T>C | CA406987726 | POLD1 | c.3238T>C (p.Tyr1080His) n.3429T>C c.3244T>C (p.Tyr1082His) c.3316T>C (p.Tyr1106His) c.3166T>C (p.Tyr1056His) c.811T>C n.263T>C n.582T>C c.426+592T>C c.*105T>C (n.*105T>C) n.3204T>C n.3180T>C | |
| 19 | g.50417861T>G | CA406987728 | POLD1 | c.3238T>G (p.Tyr1080Asp) n.3429T>G c.3244T>G (p.Tyr1082Asp) c.3316T>G (p.Tyr1106Asp) c.3166T>G (p.Tyr1056Asp) c.811T>G n.263T>G n.582T>G c.426+592T>G c.*105T>G (n.*105T>G) n.3204T>G n.3180T>G | |
| 19 | g.50417862A>C | CA406987731 | POLD1 | c.3239A>C (p.Tyr1080Ser) n.3430A>C c.3245A>C (p.Tyr1082Ser) c.3317A>C (p.Tyr1106Ser) c.3167A>C (p.Tyr1056Ser) c.812A>C n.264A>C n.583A>C c.426+593A>C c.*106A>C (n.*106A>C) n.3205A>C n.3181A>C | |
| 19 | g.50417862A>G | CA406987732 | POLD1 | c.3239A>G (p.Tyr1080Cys) n.3430A>G c.3245A>G (p.Tyr1082Cys) c.3317A>G (p.Tyr1106Cys) c.3167A>G (p.Tyr1056Cys) c.812A>G n.264A>G n.583A>G c.426+593A>G c.*106A>G (n.*106A>G) n.3205A>G n.3181A>G | |
| 19 | g.50417862A>T | CA406987733 | POLD1 | c.3239A>T (p.Tyr1080Phe) n.3430A>T c.3245A>T (p.Tyr1082Phe) c.3317A>T (p.Tyr1106Phe) c.3167A>T (p.Tyr1056Phe) c.812A>T n.264A>T n.583A>T c.426+593A>T c.*106A>T (n.*106A>T) n.3205A>T n.3181A>T | |
| 19 | g.50417863C>A | CA406987737 | POLD1 | c.3240C>A (p.Tyr1080Ter) n.3431C>A c.3246C>A (p.Tyr1082Ter) c.3318C>A (p.Tyr1106Ter) c.3168C>A (p.Tyr1056Ter) c.813C>A n.265C>A n.584C>A c.426+594C>A c.*107C>A (n.*107C>A) n.3206C>A n.3182C>A | |
| 19 | g.50417863C= | CA2340891464 | POLD1 | c.3240C= (p.Tyr1080=) n.3431C= c.3246C= (p.Tyr1082=) c.3318C= (p.Tyr1106=) c.3168C= (p.Tyr1056=) c.813C= n.265C= n.584C= c.426+594C= c.*107C= (n.*107C=) n.3206C= n.3182C= | |
| 19 | g.50417863C>G | CA406987735 | POLD1 | c.3240C>G (p.Tyr1080Ter) n.3431C>G c.3246C>G (p.Tyr1082Ter) c.3318C>G (p.Tyr1106Ter) c.3168C>G (p.Tyr1056Ter) c.813C>G n.265C>G n.584C>G c.426+594C>G c.*107C>G (n.*107C>G) n.3206C>G n.3182C>G | |
| 19 | g.50417863C>T | CA508186716 | POLD1 | c.3240C>T (p.Tyr1080=) n.3431C>T c.3246C>T (p.Tyr1082=) c.3318C>T (p.Tyr1106=) c.3168C>T (p.Tyr1056=) c.813C>T n.265C>T n.584C>T c.426+594C>T c.*107C>T (n.*107C>T) n.3206C>T n.3182C>T | ClinVar dbSNP |
| 19 | g.50417864A= | CA2340891465 | POLD1 | c.3241A= (p.Met1081=) n.3432A= c.3247A= (p.Met1083=) c.3319A= (p.Met1107=) c.3169A= (p.Met1057=) c.814A= n.266A= n.585A= c.426+595A= c.*108A= (n.*108A=) n.3207A= n.3183A= | |
| 19 | g.50417864A>C | CA406987738 | POLD1 | c.3241A>C (p.Met1081Leu) n.3432A>C c.3247A>C (p.Met1083Leu) c.3319A>C (p.Met1107Leu) c.3169A>C (p.Met1057Leu) c.814A>C n.266A>C n.585A>C c.426+595A>C c.*108A>C (n.*108A>C) n.3207A>C n.3183A>C | |
| 19 | g.50417864A>G | CA406987740 | POLD1 | c.3241A>G (p.Met1081Val) n.3432A>G c.3247A>G (p.Met1083Val) c.3319A>G (p.Met1107Val) c.3169A>G (p.Met1057Val) c.814A>G n.266A>G n.585A>G c.426+595A>G c.*108A>G (n.*108A>G) n.3207A>G n.3183A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.50417864A>T | CA406987741 | POLD1 | c.3241A>T (p.Met1081Leu) n.3432A>T c.3247A>T (p.Met1083Leu) c.3319A>T (p.Met1107Leu) c.3169A>T (p.Met1057Leu) c.814A>T n.266A>T n.585A>T c.426+595A>T c.*108A>T (n.*108A>T) n.3207A>T n.3183A>T | gnomAD v4 |
| 19 | g.50417865T>A | CA9596828 | POLD1 | c.3242T>A (p.Met1081Lys) n.3433T>A c.3248T>A (p.Met1083Lys) c.3320T>A (p.Met1107Lys) c.3170T>A (p.Met1057Lys) c.815T>A n.267T>A n.586T>A c.426+596T>A c.*109T>A (n.*109T>A) n.3208T>A n.3184T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50417865T>C | CA9596827 | POLD1 | c.3242T>C (p.Met1081Thr) n.3433T>C c.3248T>C (p.Met1083Thr) c.3320T>C (p.Met1107Thr) c.3170T>C (p.Met1057Thr) c.815T>C n.267T>C n.586T>C c.426+596T>C c.*109T>C (n.*109T>C) n.3208T>C n.3184T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.50417865T>G | CA406987743 | POLD1 | c.3242T>G (p.Met1081Arg) n.3433T>G c.3248T>G (p.Met1083Arg) c.3320T>G (p.Met1107Arg) c.3170T>G (p.Met1057Arg) c.815T>G n.267T>G n.586T>G c.426+596T>G c.*109T>G (n.*109T>G) n.3208T>G n.3184T>G | |
| 19 | g.50417865T= | CA2340891466 | POLD1 | c.3242T= (p.Met1081=) n.3433T= c.3248T= (p.Met1083=) c.3320T= (p.Met1107=) c.3170T= (p.Met1057=) c.815T= n.267T= n.586T= c.426+596T= c.*109T= (n.*109T=) n.3208T= n.3184T= | |
| 19 | g.50417869_50417880del | CA2586573346 | POLD1 | c.3246_3257del (p.Lys1083_Arg1086del) n.3437_3448del c.3252_3263del (p.Lys1085_Arg1088del) c.3324_3335del (p.Lys1109_Arg1112del) c.3174_3185del (p.Lys1059_Arg1062del) c.819_830del n.271_282del n.590_601del c.426+600_426+611del c.*113_*124del (n.*113_*124del) n.3212_3223del n.3188_3199del | gnomAD v4 |
| 19 | g.50417866G>A | CA9596829 | POLD1 | c.3243G>A (p.Met1081Ile) n.3434G>A c.3249G>A (p.Met1083Ile) c.3321G>A (p.Met1107Ile) c.3171G>A (p.Met1057Ile) c.816G>A n.268G>A n.587G>A c.426+597G>A c.*110G>A (n.*110G>A) n.3209G>A n.3185G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.50417866G>C | CA406987746 | POLD1 | c.3243G>C (p.Met1081Ile) n.3434G>C c.3249G>C (p.Met1083Ile) c.3321G>C (p.Met1107Ile) c.3171G>C (p.Met1057Ile) c.816G>C n.268G>C n.587G>C c.426+597G>C c.*110G>C (n.*110G>C) n.3209G>C n.3185G>C | |
| 19 | g.50417866G= | CA2340891467 | POLD1 | c.3243G= (p.Met1081=) n.3434G= c.3249G= (p.Met1083=) c.3321G= (p.Met1107=) c.3171G= (p.Met1057=) c.816G= n.268G= n.587G= c.426+597G= c.*110G= (n.*110G=) n.3209G= n.3185G= | |
| 19 | g.50417866G>T | CA406987745 | POLD1 | c.3243G>T (p.Met1081Ile) n.3434G>T c.3249G>T (p.Met1083Ile) c.3321G>T (p.Met1107Ile) c.3171G>T (p.Met1057Ile) c.816G>T n.268G>T n.587G>T c.426+597G>T c.*110G>T (n.*110G>T) n.3209G>T n.3185G>T | ClinVar |
| 19 | g.50417866_50417868delinsGCG | CA2340891468 | POLD1 | c.3243_3245delinsGCG (p.Met1081=) n.3434_3436delinsGCG c.3249_3251delinsGCG (p.Met1083=) c.3321_3323delinsGCG (p.Met1107=) c.3171_3173delinsGCG (p.Met1057=) c.816_818delinsGCG n.268_270delinsGCG n.587_589delinsGCG c.426+597_426+599delinsGCG c.*110_*112delinsGCG (n.*110_*112delinsGCG) n.3209_3211delinsGCG n.3185_3187delinsGCG | |
| 19 | g.50417866_50417868delinsTGT | CA658799283 | POLD1 | c.3243_3245delinsTGT (p.Met1081_Arg1082delinsIleVal) n.3434_3436delinsTGT c.3249_3251delinsTGT (p.Met1083_Arg1084delinsIleVal) c.3321_3323delinsTGT (p.Met1107_Arg1108delinsIleVal) c.3171_3173delinsTGT (p.Met1057_Arg1058delinsIleVal) c.816_818delinsTGT n.268_270delinsTGT n.587_589delinsTGT c.426+597_426+599delinsTGT c.*110_*112delinsTGT (n.*110_*112delinsTGT) n.3209_3211delinsTGT n.3185_3187delinsTGT | ClinVar dbSNP |
| 19 | g.50417867del | CA2573156791 | POLD1 | c.3244del (p.Arg1082AlafsTer?) n.3435del c.3250del (p.Arg1084AlafsTer?) c.3322del (p.Arg1108AlafsTer?) c.3172del (p.Arg1058AlafsTer?) c.817del n.269del n.588del c.426+598del c.*111del (n.*111del) n.3210del n.3186del | ClinVar dbSNP |