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 |
|---|---|---|---|---|---|
| 18 | g.49363137_49363175del | CA2641766917 | DYM | c.482_494+26del c.*84_*96+26del c.193+28420_193+28458del (n.193+28420_193+28458del) c.17_29+26del c.479_491+26del c.314_326+26del c.302_314+26del n.839_851+26del c.254_266+26del | gnomAD v4 |
| 18 | g.49363164A= | CA2302182907 | DYM | c.491T= (p.Leu164=) c.*93T= (n.*93T=) c.193+28429T= (n.193+28429T=) c.26T= (p.Leu9=) c.488T= (p.Leu163=) c.323T= (p.Leu108=) c.311T= (p.Leu104=) n.848T= c.263T= (p.Leu88=) | |
| 18 | g.49363164A>C | CA402509664 | DYM | c.491T>G (p.Leu164Arg) c.*93T>G (n.*93T>G) c.193+28429T>G (n.193+28429T>G) c.26T>G (p.Leu9Arg) c.488T>G (p.Leu163Arg) c.323T>G (p.Leu108Arg) c.311T>G (p.Leu104Arg) n.848T>G c.263T>G (p.Leu88Arg) | gnomAD v4 |
| 18 | g.49363164A>G | CA402509665 | DYM | c.491T>C (p.Leu164Pro) c.*93T>C (n.*93T>C) c.193+28429T>C (n.193+28429T>C) c.26T>C (p.Leu9Pro) c.488T>C (p.Leu163Pro) c.323T>C (p.Leu108Pro) c.311T>C (p.Leu104Pro) n.848T>C c.263T>C (p.Leu88Pro) | |
| 18 | g.49363164A>T | CA402509666 | DYM | c.491T>A (p.Leu164His) c.*93T>A (n.*93T>A) c.193+28429T>A (n.193+28429T>A) c.26T>A (p.Leu9His) c.488T>A (p.Leu163His) c.323T>A (p.Leu108His) c.311T>A (p.Leu104His) n.848T>A c.263T>A (p.Leu88His) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.49363165G>A | CA402509668 | DYM | c.490C>T (p.Leu164Phe) c.*92C>T (n.*92C>T) c.193+28428C>T (n.193+28428C>T) c.25C>T (p.Leu9Phe) c.487C>T (p.Leu163Phe) c.322C>T (p.Leu108Phe) c.310C>T (p.Leu104Phe) n.847C>T c.262C>T (p.Leu88Phe) | gnomAD v4 |
| 18 | g.49363165G>C | CA402509669 | DYM | c.490C>G (p.Leu164Val) c.*92C>G (n.*92C>G) c.193+28428C>G (n.193+28428C>G) c.25C>G (p.Leu9Val) c.487C>G (p.Leu163Val) c.322C>G (p.Leu108Val) c.310C>G (p.Leu104Val) n.847C>G c.262C>G (p.Leu88Val) | |
| 18 | g.49363165G>T | CA402509667 | DYM | c.490C>A (p.Leu164Ile) c.*92C>A (n.*92C>A) c.193+28428C>A (n.193+28428C>A) c.25C>A (p.Leu9Ile) c.487C>A (p.Leu163Ile) c.322C>A (p.Leu108Ile) c.310C>A (p.Leu104Ile) n.847C>A c.262C>A (p.Leu88Ile) | |
| 18 | g.49363166T>A | CA8958375 | DYM | c.489A>T (p.Pro163=) c.*91A>T (n.*91A>T) c.193+28427A>T (n.193+28427A>T) c.24A>T (p.Pro8=) c.486A>T (p.Pro162=) c.321A>T (p.Pro107=) c.309A>T (p.Pro103=) n.846A>T c.261A>T (p.Pro87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.49363166T>C | CA503939651 | DYM | c.489A>G (p.Pro163=) c.*91A>G (n.*91A>G) c.193+28427A>G (n.193+28427A>G) c.24A>G (p.Pro8=) c.486A>G (p.Pro162=) c.321A>G (p.Pro107=) c.309A>G (p.Pro103=) n.846A>G c.261A>G (p.Pro87=) | |
| 18 | g.49363166T>G | CA503939652 | DYM | c.489A>C (p.Pro163=) c.*91A>C (n.*91A>C) c.193+28427A>C (n.193+28427A>C) c.24A>C (p.Pro8=) c.486A>C (p.Pro162=) c.321A>C (p.Pro107=) c.309A>C (p.Pro103=) n.846A>C c.261A>C (p.Pro87=) | |
| 18 | g.49363166T= | CA2302182908 | DYM | c.489A= (p.Pro163=) c.*91A= (n.*91A=) c.193+28427A= (n.193+28427A=) c.24A= (p.Pro8=) c.486A= (p.Pro162=) c.321A= (p.Pro107=) c.309A= (p.Pro103=) n.846A= c.261A= (p.Pro87=) | |
| 18 | g.49363167G>A | CA402509670 | DYM | c.488C>T (p.Pro163Leu) c.*90C>T (n.*90C>T) c.193+28426C>T (n.193+28426C>T) c.23C>T (p.Pro8Leu) c.485C>T (p.Pro162Leu) c.320C>T (p.Pro107Leu) c.308C>T (p.Pro103Leu) n.845C>T c.260C>T (p.Pro87Leu) | |
| 18 | g.49363167G>C | CA402509671 | DYM | c.488C>G (p.Pro163Arg) c.*90C>G (n.*90C>G) c.193+28426C>G (n.193+28426C>G) c.23C>G (p.Pro8Arg) c.485C>G (p.Pro162Arg) c.320C>G (p.Pro107Arg) c.308C>G (p.Pro103Arg) n.845C>G c.260C>G (p.Pro87Arg) | |
| 18 | g.49363167G>T | CA402509672 | DYM | c.488C>A (p.Pro163Gln) c.*90C>A (n.*90C>A) c.193+28426C>A (n.193+28426C>A) c.23C>A (p.Pro8Gln) c.485C>A (p.Pro162Gln) c.320C>A (p.Pro107Gln) c.308C>A (p.Pro103Gln) n.845C>A c.260C>A (p.Pro87Gln) | |
| 18 | g.49363168del | CA2576501762 | DYM | c.488del (p.Pro163HisfsTer3) c.*90del (n.*90del) c.193+28426del (n.193+28426del) c.23del (p.Pro8HisfsTer3) c.485del (p.Pro162HisfsTer3) c.320del (p.Pro107HisfsTer3) c.308del (p.Pro103HisfsTer3) n.845del c.488del (p.Pro163HisfsTer11) c.260del (p.Pro87HisfsTer3) | |
| 18 | g.49363168G>A | CA402509673 | DYM | c.487C>T (p.Pro163Ser) c.*89C>T (n.*89C>T) c.193+28425C>T (n.193+28425C>T) c.22C>T (p.Pro8Ser) c.484C>T (p.Pro162Ser) c.319C>T (p.Pro107Ser) c.307C>T (p.Pro103Ser) n.844C>T c.259C>T (p.Pro87Ser) | |
| 18 | g.49363168G>C | CA402509674 | DYM | c.487C>G (p.Pro163Ala) c.*89C>G (n.*89C>G) c.193+28425C>G (n.193+28425C>G) c.22C>G (p.Pro8Ala) c.484C>G (p.Pro162Ala) c.319C>G (p.Pro107Ala) c.307C>G (p.Pro103Ala) n.844C>G c.259C>G (p.Pro87Ala) | |
| 18 | g.49363168G>T | CA402509675 | DYM | c.487C>A (p.Pro163Thr) c.*89C>A (n.*89C>A) c.193+28425C>A (n.193+28425C>A) c.22C>A (p.Pro8Thr) c.484C>A (p.Pro162Thr) c.319C>A (p.Pro107Thr) c.307C>A (p.Pro103Thr) n.844C>A c.259C>A (p.Pro87Thr) | |
| 18 | g.49363169A>C | CA402509676 | DYM | c.486T>G (p.Ile162Met) c.*88T>G (n.*88T>G) c.193+28424T>G (n.193+28424T>G) c.21T>G (p.Ile7Met) c.483T>G (p.Ile161Met) c.318T>G (p.Ile106Met) c.306T>G (p.Ile102Met) n.843T>G c.258T>G (p.Ile86Met) | |
| 18 | g.49363169A>G | CA503939655 | DYM | c.486T>C (p.Ile162=) c.*88T>C (n.*88T>C) c.193+28424T>C (n.193+28424T>C) c.21T>C (p.Ile7=) c.483T>C (p.Ile161=) c.318T>C (p.Ile106=) c.306T>C (p.Ile102=) n.843T>C c.258T>C (p.Ile86=) | gnomAD v4 |
| 18 | g.49363169A>T | CA503939657 | DYM | c.486T>A (p.Ile162=) c.*88T>A (n.*88T>A) c.193+28424T>A (n.193+28424T>A) c.21T>A (p.Ile7=) c.483T>A (p.Ile161=) c.318T>A (p.Ile106=) c.306T>A (p.Ile102=) n.843T>A c.258T>A (p.Ile86=) | |
| 18 | g.49363170A= | CA2302182909 | DYM | c.485T= (p.Ile162=) c.*87T= (n.*87T=) c.193+28423T= (n.193+28423T=) c.20T= (p.Ile7=) c.482T= (p.Ile161=) c.317T= (p.Ile106=) c.305T= (p.Ile102=) n.842T= c.257T= (p.Ile86=) | |
| 18 | g.49363170A>C | CA402509677 | DYM | c.485T>G (p.Ile162Ser) c.*87T>G (n.*87T>G) c.193+28423T>G (n.193+28423T>G) c.20T>G (p.Ile7Ser) c.482T>G (p.Ile161Ser) c.317T>G (p.Ile106Ser) c.305T>G (p.Ile102Ser) n.842T>G c.257T>G (p.Ile86Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.49363170A>G | CA8958376 | DYM | c.485T>C (p.Ile162Thr) c.*87T>C (n.*87T>C) c.193+28423T>C (n.193+28423T>C) c.20T>C (p.Ile7Thr) c.482T>C (p.Ile161Thr) c.317T>C (p.Ile106Thr) c.305T>C (p.Ile102Thr) n.842T>C c.257T>C (p.Ile86Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.49363170A>T | CA402509678 | DYM | c.485T>A (p.Ile162Asn) c.*87T>A (n.*87T>A) c.193+28423T>A (n.193+28423T>A) c.20T>A (p.Ile7Asn) c.482T>A (p.Ile161Asn) c.317T>A (p.Ile106Asn) c.305T>A (p.Ile102Asn) n.842T>A c.257T>A (p.Ile86Asn) | |
| 18 | g.49363171T>A | CA402509679 | DYM | c.484A>T (p.Ile162Phe) c.*86A>T (n.*86A>T) c.193+28422A>T (n.193+28422A>T) c.19A>T (p.Ile7Phe) c.481A>T (p.Ile161Phe) c.316A>T (p.Ile106Phe) c.304A>T (p.Ile102Phe) n.841A>T c.256A>T (p.Ile86Phe) | |
| 18 | g.49363171T>C | CA8958377 | DYM | c.484A>G (p.Ile162Val) c.*86A>G (n.*86A>G) c.193+28422A>G (n.193+28422A>G) c.19A>G (p.Ile7Val) c.481A>G (p.Ile161Val) c.316A>G (p.Ile106Val) c.304A>G (p.Ile102Val) n.841A>G c.256A>G (p.Ile86Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.49363171T>G | CA402509680 | DYM | c.484A>C (p.Ile162Leu) c.*86A>C (n.*86A>C) c.193+28422A>C (n.193+28422A>C) c.19A>C (p.Ile7Leu) c.481A>C (p.Ile161Leu) c.316A>C (p.Ile106Leu) c.304A>C (p.Ile102Leu) n.841A>C c.256A>C (p.Ile86Leu) | |
| 18 | g.49363171T= | CA2302182910 | DYM | c.484A= (p.Ile162=) c.*86A= (n.*86A=) c.193+28422A= (n.193+28422A=) c.19A= (p.Ile7=) c.481A= (p.Ile161=) c.316A= (p.Ile106=) c.304A= (p.Ile102=) n.841A= c.256A= (p.Ile86=) | |
| 18 | g.49363172A>C | CA402509682 | DYM | c.483T>G (p.Asp161Glu) c.*85T>G (n.*85T>G) c.193+28421T>G (n.193+28421T>G) c.18T>G (p.Asp6Glu) c.480T>G (p.Asp160Glu) c.315T>G (p.Asp105Glu) c.303T>G (p.Asp101Glu) n.840T>G c.255T>G (p.Asp85Glu) | COSMIC |
| 18 | g.49363172A>G | CA503939658 | DYM | c.483T>C (p.Asp161=) c.*85T>C (n.*85T>C) c.193+28421T>C (n.193+28421T>C) c.18T>C (p.Asp6=) c.480T>C (p.Asp160=) c.315T>C (p.Asp105=) c.303T>C (p.Asp101=) n.840T>C c.255T>C (p.Asp85=) | |
| 18 | g.49363172A>T | CA402509681 | DYM | c.483T>A (p.Asp161Glu) c.*85T>A (n.*85T>A) c.193+28421T>A (n.193+28421T>A) c.18T>A (p.Asp6Glu) c.480T>A (p.Asp160Glu) c.315T>A (p.Asp105Glu) c.303T>A (p.Asp101Glu) n.840T>A c.255T>A (p.Asp85Glu) | |
| 18 | g.49363173T>A | CA402509683 | DYM | c.482A>T (p.Asp161Val) c.*84A>T (n.*84A>T) c.193+28420A>T (n.193+28420A>T) c.17A>T (p.Asp6Val) c.479A>T (p.Asp160Val) c.314A>T (p.Asp105Val) c.302A>T (p.Asp101Val) n.839A>T c.254A>T (p.Asp85Val) | |
| 18 | g.49363173T>C | CA402509684 | DYM | c.482A>G (p.Asp161Gly) c.*84A>G (n.*84A>G) c.193+28420A>G (n.193+28420A>G) c.17A>G (p.Asp6Gly) c.479A>G (p.Asp160Gly) c.314A>G (p.Asp105Gly) c.302A>G (p.Asp101Gly) n.839A>G c.254A>G (p.Asp85Gly) | |
| 18 | g.49363173T>G | CA402509685 | DYM | c.482A>C (p.Asp161Ala) c.*84A>C (n.*84A>C) c.193+28420A>C (n.193+28420A>C) c.17A>C (p.Asp6Ala) c.479A>C (p.Asp160Ala) c.314A>C (p.Asp105Ala) c.302A>C (p.Asp101Ala) n.839A>C c.254A>C (p.Asp85Ala) | |
| 18 | g.49363174C>A | CA402509686 | DYM | c.481G>T (p.Asp161Tyr) c.*83G>T (n.*83G>T) c.193+28419G>T (n.193+28419G>T) c.16G>T (p.Asp6Tyr) c.478G>T (p.Asp160Tyr) c.313G>T (p.Asp105Tyr) c.301G>T (p.Asp101Tyr) n.838G>T c.253G>T (p.Asp85Tyr) | |
| 18 | g.49363174C>G | CA402509687 | DYM | c.481G>C (p.Asp161His) c.*83G>C (n.*83G>C) c.193+28419G>C (n.193+28419G>C) c.16G>C (p.Asp6His) c.478G>C (p.Asp160His) c.313G>C (p.Asp105His) c.301G>C (p.Asp101His) n.838G>C c.253G>C (p.Asp85His) | gnomAD v4 |
| 18 | g.49363174C>T | CA402509688 | DYM | c.481G>A (p.Asp161Asn) c.*83G>A (n.*83G>A) c.193+28419G>A (n.193+28419G>A) c.16G>A (p.Asp6Asn) c.478G>A (p.Asp160Asn) c.313G>A (p.Asp105Asn) c.301G>A (p.Asp101Asn) n.838G>A c.253G>A (p.Asp85Asn) | |
| 18 | g.49363175A= | CA2302182911 | DYM | c.480T= (p.Thr160=) c.*82T= (n.*82T=) c.193+28418T= (n.193+28418T=) c.15T= (p.Thr5=) c.477T= (p.Thr159=) c.312T= (p.Thr104=) c.300T= (p.Thr100=) n.837T= c.252T= (p.Thr84=) | |
| 18 | g.49363175A>C | CA8958378 | DYM | c.480T>G (p.Thr160=) c.*82T>G (n.*82T>G) c.193+28418T>G (n.193+28418T>G) c.15T>G (p.Thr5=) c.477T>G (p.Thr159=) c.312T>G (p.Thr104=) c.300T>G (p.Thr100=) n.837T>G c.252T>G (p.Thr84=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.49363175A>G | CA503939662 | DYM | c.480T>C (p.Thr160=) c.*82T>C (n.*82T>C) c.193+28418T>C (n.193+28418T>C) c.15T>C (p.Thr5=) c.477T>C (p.Thr159=) c.312T>C (p.Thr104=) c.300T>C (p.Thr100=) n.837T>C c.252T>C (p.Thr84=) | gnomAD v4 |
| 18 | g.49363175A>T | CA503939663 | DYM | c.480T>A (p.Thr160=) c.*82T>A (n.*82T>A) c.193+28418T>A (n.193+28418T>A) c.15T>A (p.Thr5=) c.477T>A (p.Thr159=) c.312T>A (p.Thr104=) c.300T>A (p.Thr100=) n.837T>A c.252T>A (p.Thr84=) | |
| 18 | g.49363176G>A | CA402509689 | DYM | c.479C>T (p.Thr160Ile) c.*81C>T (n.*81C>T) c.193+28417C>T (n.193+28417C>T) c.14C>T (p.Thr5Ile) c.476C>T (p.Thr159Ile) c.311C>T (p.Thr104Ile) c.299C>T (p.Thr100Ile) n.836C>T c.251C>T (p.Thr84Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.49363176G>C | CA402509691 | DYM | c.479C>G (p.Thr160Ser) c.*81C>G (n.*81C>G) c.193+28417C>G (n.193+28417C>G) c.14C>G (p.Thr5Ser) c.476C>G (p.Thr159Ser) c.311C>G (p.Thr104Ser) c.299C>G (p.Thr100Ser) n.836C>G c.251C>G (p.Thr84Ser) | |
| 18 | g.49363176G= | CA2302182912 | DYM | c.479C= (p.Thr160=) c.*81C= (n.*81C=) c.193+28417C= (n.193+28417C=) c.14C= (p.Thr5=) c.476C= (p.Thr159=) c.311C= (p.Thr104=) c.299C= (p.Thr100=) n.836C= c.251C= (p.Thr84=) | |
| 18 | g.49363176G>T | CA402509690 | DYM | c.479C>A (p.Thr160Asn) c.*81C>A (n.*81C>A) c.193+28417C>A (n.193+28417C>A) c.14C>A (p.Thr5Asn) c.476C>A (p.Thr159Asn) c.311C>A (p.Thr104Asn) c.299C>A (p.Thr100Asn) n.836C>A c.251C>A (p.Thr84Asn) | |
| 18 | g.49363177T>A | CA402509692 | DYM | c.478A>T (p.Thr160Ser) c.*80A>T (n.*80A>T) c.193+28416A>T (n.193+28416A>T) c.13A>T (p.Thr5Ser) c.475A>T (p.Thr159Ser) c.310A>T (p.Thr104Ser) c.298A>T (p.Thr100Ser) n.835A>T c.250A>T (p.Thr84Ser) | |
| 18 | g.49363177T>C | CA402509693 | DYM | c.478A>G (p.Thr160Ala) c.*80A>G (n.*80A>G) c.193+28416A>G (n.193+28416A>G) c.13A>G (p.Thr5Ala) c.475A>G (p.Thr159Ala) c.310A>G (p.Thr104Ala) c.298A>G (p.Thr100Ala) n.835A>G c.250A>G (p.Thr84Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.49363177T>G | CA402509694 | DYM | c.478A>C (p.Thr160Pro) c.*80A>C (n.*80A>C) c.193+28416A>C (n.193+28416A>C) c.13A>C (p.Thr5Pro) c.475A>C (p.Thr159Pro) c.310A>C (p.Thr104Pro) c.298A>C (p.Thr100Pro) n.835A>C c.250A>C (p.Thr84Pro) |