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 |
|---|---|---|---|---|---|
| 22 | g.50625969_50625973delinsAAAGC | CA2410958768 | ARSA | c.1070_1074delinsGCTTT (p.Gly357=) c.812_816delinsGCTTT (p.Gly271=) | |
| 22 | g.50625970A>C | CA412171519 | ARSA | c.1073T>G (p.Phe358Cys) c.815T>G (p.Phe272Cys) | |
| 22 | g.50625970A>G | CA412171523 | ARSA | c.1073T>C (p.Phe358Ser) c.815T>C (p.Phe272Ser) | |
| 22 | g.50625970A>T | CA412171527 | ARSA | c.1073T>A (p.Phe358Tyr) c.815T>A (p.Phe272Tyr) | |
| 22 | g.50625970_50625973del | CA1026680566 | ARSA | c.1070_1073del (p.Gly357ValfsTer?) c.812_815del (p.Gly271ValfsTer?) c.1070_1073del (p.Gly357ValfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625971A= | CA2410958769 | ARSA | c.1072T= (p.Phe358=) c.814T= (p.Phe272=) | |
| 22 | g.50625971A>C | CA325531313 | ARSA | c.1072T>G (p.Phe358Val) c.814T>G (p.Phe272Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625971A>G | CA412171547 | ARSA | c.1072T>C (p.Phe358Leu) c.814T>C (p.Phe272Leu) | |
| 22 | g.50625971A>T | CA412171556 | ARSA | c.1072T>A (p.Phe358Ile) c.814T>A (p.Phe272Ile) | |
| 22 | g.50625972G>A | CA515248847 | ARSA | c.1071C>T (p.Gly357=) c.813C>T (p.Gly271=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625972G>C | CA515248848 | ARSA | c.1071C>G (p.Gly357=) c.813C>G (p.Gly271=) | |
| 22 | g.50625972G= | CA2410958770 | ARSA | c.1071C= (p.Gly357=) c.813C= (p.Gly271=) | |
| 22 | g.50625972G>T | CA515248849 | ARSA | c.1071C>A (p.Gly357=) c.813C>A (p.Gly271=) | gnomAD v4 |
| 22 | g.50625973C>A | CA412171563 | ARSA | c.1070G>T (p.Gly357Val) c.812G>T (p.Gly271Val) | gnomAD v4 |
| 22 | g.50625973C= | CA2410958771 | ARSA | c.1070G= (p.Gly357=) c.812G= (p.Gly271=) | |
| 22 | g.50625973C>G | CA412171569 | ARSA | c.1070G>C (p.Gly357Ala) c.812G>C (p.Gly271Ala) | |
| 22 | g.50625973C>T | CA10324834 | ARSA | c.1070G>A (p.Gly357Asp) c.812G>A (p.Gly271Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50625974C>A | CA412171598 | ARSA | c.1069G>T (p.Gly357Cys) c.811G>T (p.Gly271Cys) | |
| 22 | g.50625974C>G | CA412171599 | ARSA | c.1069G>C (p.Gly357Arg) c.811G>C (p.Gly271Arg) | |
| 22 | g.50625974C>T | CA412171589 | ARSA | c.1069G>A (p.Gly357Ser) c.811G>A (p.Gly271Ser) | |
| 22 | g.50625975A= | CA2410958772 | ARSA | c.1068T= (p.Asp356=) c.810T= (p.Asp270=) | |
| 22 | g.50625975A>C | CA412171602 | ARSA | c.1068T>G (p.Asp356Glu) c.810T>G (p.Asp270Glu) | |
| 22 | g.50625975A>G | CA515248850 | ARSA | c.1068T>C (p.Asp356=) c.810T>C (p.Asp270=) | ClinVar dbSNP gnomAD v2 |
| 22 | g.50625975A>T | CA412171603 | ARSA | c.1068T>A (p.Asp356Glu) c.810T>A (p.Asp270Glu) | |
| 22 | g.50625976T>A | CA412171604 | ARSA | c.1067A>T (p.Asp356Val) c.809A>T (p.Asp270Val) | gnomAD v4 |
| 22 | g.50625976T>C | CA412171606 | ARSA | c.1067A>G (p.Asp356Gly) c.809A>G (p.Asp270Gly) | |
| 22 | g.50625976T>G | CA412171609 | ARSA | c.1067A>C (p.Asp356Ala) c.809A>C (p.Asp270Ala) | |
| 22 | g.50625977C>A | CA412171613 | ARSA | c.1066G>T (p.Asp356Tyr) c.808G>T (p.Asp270Tyr) | gnomAD v4 |
| 22 | g.50625977C>G | CA412171616 | ARSA | c.1066G>C (p.Asp356His) c.808G>C (p.Asp270His) | |
| 22 | g.50625977C>T | CA412171626 | ARSA | c.1066G>A (p.Asp356Asn) c.808G>A (p.Asp270Asn) | |
| 22 | g.50625978C>A | CA412171630 | ARSA | c.1065G>T (p.Leu355Phe) c.807G>T (p.Leu269Phe) | gnomAD v4 |
| 22 | g.50625978C>G | CA412171635 | ARSA | c.1065G>C (p.Leu355Phe) c.807G>C (p.Leu269Phe) | |
| 22 | g.50625978C>T | CA515248851 | ARSA | c.1065G>A (p.Leu355=) c.807G>A (p.Leu269=) | gnomAD v4 |
| 22 | g.50625979A>C | CA412171639 | ARSA | c.1064T>G (p.Leu355Trp) c.806T>G (p.Leu269Trp) | |
| 22 | g.50625979A>G | CA412171643 | ARSA | c.1064T>C (p.Leu355Ser) c.806T>C (p.Leu269Ser) | |
| 22 | g.50625979A>T | CA412171646 | ARSA | c.1064T>A (p.Leu355Ter) c.806T>A (p.Leu269Ter) | |
| 22 | g.50625980A= | CA2410958773 | ARSA | c.1063T= (p.Leu355=) c.805T= (p.Leu269=) | |
| 22 | g.50625980A>C | CA10324835 | ARSA | c.1063T>G (p.Leu355Val) c.805T>G (p.Leu269Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625980A>G | CA515248852 | ARSA | c.1063T>C (p.Leu355=) c.805T>C (p.Leu269=) | |
| 22 | g.50625980A>T | CA412171653 | ARSA | c.1063T>A (p.Leu355Met) c.805T>A (p.Leu269Met) | |
| 22 | g.50625981G>A | CA515248853 | ARSA | c.1062C>T (p.Thr354=) c.804C>T (p.Thr268=) | |
| 22 | g.50625981G>C | CA515248854 | ARSA | c.1062C>G (p.Thr354=) c.804C>G (p.Thr268=) | |
| 22 | g.50625981G>T | CA515248855 | ARSA | c.1062C>A (p.Thr354=) c.804C>A (p.Thr268=) | |
| 22 | g.50625982G>A | CA412171668 | ARSA | c.1061C>T (p.Thr354Ile) c.803C>T (p.Thr268Ile) | |
| 22 | g.50625982G>C | CA412171671 | ARSA | c.1061C>G (p.Thr354Ser) c.803C>G (p.Thr268Ser) | |
| 22 | g.50625982G>T | CA412171675 | ARSA | c.1061C>A (p.Thr354Asn) c.803C>A (p.Thr268Asn) | |
| 22 | g.50625983T>A | CA10324836 | ARSA | c.1060A>T (p.Thr354Ser) c.802A>T (p.Thr268Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625983T>C | CA412171687 | ARSA | c.1060A>G (p.Thr354Ala) c.802A>G (p.Thr268Ala) | |
| 22 | g.50625983T>G | CA412171693 | ARSA | c.1060A>C (p.Thr354Pro) c.802A>C (p.Thr268Pro) | gnomAD v4 |
| 22 | g.50625983T= | CA2410958774 | ARSA | c.1060A= (p.Thr354=) c.802A= (p.Thr268=) | |
| 22 | g.50625984G>A | CA515248856 | ARSA | c.1059C>T (p.Val353=) c.801C>T (p.Val267=) | ClinVar |
| 22 | g.50625984G>C | CA515248857 | ARSA | c.1059C>G (p.Val353=) c.801C>G (p.Val267=) | |
| 22 | g.50625984G>T | CA515248858 | ARSA | c.1059C>A (p.Val353=) c.801C>A (p.Val267=) | |
| 22 | g.50625985A>C | CA412171729 | ARSA | c.1058T>G (p.Val353Gly) c.800T>G (p.Val267Gly) | |
| 22 | g.50625985A>G | CA412171699 | ARSA | c.1058T>C (p.Val353Ala) c.800T>C (p.Val267Ala) | |
| 22 | g.50625985A>T | CA412171722 | ARSA | c.1058T>A (p.Val353Asp) c.800T>A (p.Val267Asp) | gnomAD v4 |
| 22 | g.50625986C>A | CA412171735 | ARSA | c.1057G>T (p.Val353Phe) c.799G>T (p.Val267Phe) | gnomAD v4 |
| 22 | g.50625986C>G | CA412171738 | ARSA | c.1057G>C (p.Val353Leu) c.799G>C (p.Val267Leu) | |
| 22 | g.50625986C>T | CA412171743 | ARSA | c.1057G>A (p.Val353Ile) c.799G>A (p.Val267Ile) | gnomAD v4 |
| 22 | g.50625987A= | CA2410958775 | ARSA | c.1056T= (p.Asn352=) c.798T= (p.Asn266=) | |
| 22 | g.50625987A>C | CA412171751 | ARSA | c.1056T>G (p.Asn352Lys) c.798T>G (p.Asn266Lys) | |
| 22 | g.50625987A>G | CA515248859 | ARSA | c.1056T>C (p.Asn352=) c.798T>C (p.Asn266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625987A>T | CA412171755 | ARSA | c.1056T>A (p.Asn352Lys) c.798T>A (p.Asn266Lys) | |
| 22 | g.50625988T>A | CA412171786 | ARSA | c.1055A>T (p.Asn352Ile) c.797A>T (p.Asn266Ile) | |
| 22 | g.50625988T>C | CA115954 | ARSA | c.1055A>G (p.Asn352Ser) c.797A>G (p.Asn266Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625988T>G | CA412171758 | ARSA | c.1055A>C (p.Asn352Thr) c.797A>C (p.Asn266Thr) | |
| 22 | g.50625988T= | CA2410958776 | ARSA | c.1055A= (p.Asn352=) c.797A= (p.Asn266=) | |
| 22 | g.50625989T>A | CA412171790 | ARSA | c.1054A>T (p.Asn352Tyr) c.796A>T (p.Asn266Tyr) | |
| 22 | g.50625989T>C | CA412171796 | ARSA | c.1054A>G (p.Asn352Asp) c.796A>G (p.Asn266Asp) | |
| 22 | g.50625989T>G | CA412171793 | ARSA | c.1054A>C (p.Asn352His) c.796A>C (p.Asn266His) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625989T= | CA2410958777 | ARSA | c.1054A= (p.Asn352=) c.796A= (p.Asn266=) | |
| 22 | g.50625990G>A | CA515248861 | ARSA | c.1053C>T (p.Pro351=) c.795C>T (p.Pro265=) | gnomAD v4 |
| 22 | g.50625990G>C | CA515248862 | ARSA | c.1053C>G (p.Pro351=) c.795C>G (p.Pro265=) | |
| 22 | g.50625990G>T | CA515248860 | ARSA | c.1053C>A (p.Pro351=) c.795C>A (p.Pro265=) | |
| 22 | g.50625992del | CA2580100076 | ARSA | c.1053del (p.Asn352MetfsTer?) c.795del (p.Asn266MetfsTer?) c.1053del (p.Asn352MetfsTer23) | ClinVar |
| 22 | g.50625991G>A | CA412171800 | ARSA | c.1052C>T (p.Pro351Leu) c.794C>T (p.Pro265Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625991G>C | CA412171803 | ARSA | c.1052C>G (p.Pro351Arg) c.794C>G (p.Pro265Arg) | |
| 22 | g.50625991G= | CA2410958778 | ARSA | c.1052C= (p.Pro351=) c.794C= (p.Pro265=) | |
| 22 | g.50625991G>T | CA412171801 | ARSA | c.1052C>A (p.Pro351His) c.794C>A (p.Pro265His) | gnomAD v4 |
| 22 | g.50625992G>A | CA412171811 | ARSA | c.1051C>T (p.Pro351Ser) c.793C>T (p.Pro265Ser) | gnomAD v4 |
| 22 | g.50625992G>C | CA412171820 | ARSA | c.1051C>G (p.Pro351Ala) c.793C>G (p.Pro265Ala) | dbSNP gnomAD v4 |
| 22 | g.50625992G= | CA2410958779 | ARSA | c.1051C= (p.Pro351=) c.793C= (p.Pro265=) | |
| 22 | g.50625992G>T | CA412171816 | ARSA | c.1051C>A (p.Pro351Thr) c.793C>A (p.Pro265Thr) | |
| 22 | g.50625993C>A | CA515248865 | ARSA | c.1050G>T (p.Leu350=) c.792G>T (p.Leu264=) | gnomAD v4 |
| 22 | g.50625993C>G | CA515248864 | ARSA | c.1050G>C (p.Leu350=) c.792G>C (p.Leu264=) | ClinVar |
| 22 | g.50625993C>T | CA515248863 | ARSA | c.1050G>A (p.Leu350=) c.792G>A (p.Leu264=) | gnomAD v4 |
| 22 | g.50625994A= | CA2410958780 | ARSA | c.1049T= (p.Leu350=) c.791T= (p.Leu264=) | |
| 22 | g.50625994A>C | CA412171826 | ARSA | c.1049T>G (p.Leu350Arg) c.791T>G (p.Leu264Arg) | |
| 22 | g.50625994A>G | CA412171845 | ARSA | c.1049T>C (p.Leu350Pro) c.791T>C (p.Leu264Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625994A>T | CA412171837 | ARSA | c.1049T>A (p.Leu350Gln) c.791T>A (p.Leu264Gln) | |
| 22 | g.50625995G>A | CA515248866 | ARSA | c.1048C>T (p.Leu350=) c.790C>T (p.Leu264=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625995G>C | CA412171851 | ARSA | c.1048C>G (p.Leu350Val) c.790C>G (p.Leu264Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625995G= | CA2410958781 | ARSA | c.1048C= (p.Leu350=) c.790C= (p.Leu264=) | |
| 22 | g.50625995G>T | CA412171852 | ARSA | c.1048C>A (p.Leu350Met) c.790C>A (p.Leu264Met) | |
| 22 | g.50625996T>A | CA515248867 | ARSA | c.1047A>T (p.Pro349=) c.789A>T (p.Pro263=) | |
| 22 | g.50625996T>C | CA515248869 | ARSA | c.1047A>G (p.Pro349=) c.789A>G (p.Pro263=) | ClinVar gnomAD v4 |
| 22 | g.50625996T>G | CA515248868 | ARSA | c.1047A>C (p.Pro349=) c.789A>C (p.Pro263=) | ClinVar dbSNP |
| 22 | g.50625996_50625997delinsTG | CA2410958782 | ARSA | c.1046_1047delinsCA (p.Pro349=) c.788_789delinsCA (p.Pro263=) | |
| 22 | g.50625997G>A | CA412171853 | ARSA | c.1046C>T (p.Pro349Leu) c.788C>T (p.Pro263Leu) | gnomAD v4 COSMIC |
| 22 | g.50625997G>C | CA412171858 | ARSA | c.1046C>G (p.Pro349Arg) c.788C>G (p.Pro263Arg) | |
| 22 | g.50625997G= | CA2410958783 | ARSA | c.1046C= (p.Pro349=) c.788C= (p.Pro263=) | |
| 22 | g.50625997G>T | CA412171862 | ARSA | c.1046C>A (p.Pro349Gln) c.788C>A (p.Pro263Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626000del | CA915952824 | ARSA | c.1046del (p.Pro349HisfsTer?) c.788del (p.Pro263HisfsTer?) c.1046del (p.Pro349HisfsTer26) | ClinVar dbSNP |
| 22 | g.50625998G>A | CA10324837 | ARSA | c.1045C>T (p.Pro349Ser) c.787C>T (p.Pro263Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625998G>C | CA412171877 | ARSA | c.1045C>G (p.Pro349Ala) c.787C>G (p.Pro263Ala) | |
| 22 | g.50625998G= | CA2410958784 | ARSA | c.1045C= (p.Pro349=) c.787C= (p.Pro263=) | |
| 22 | g.50625998G>T | CA412171881 | ARSA | c.1045C>A (p.Pro349Thr) c.787C>A (p.Pro263Thr) | gnomAD v4 |
| 22 | g.50625999G>A | CA325531314 | ARSA | c.1044C>T (p.Ala348=) c.786C>T (p.Ala262=) | dbSNP gnomAD v4 |
| 22 | g.50625999G>C | CA515248870 | ARSA | c.1044C>G (p.Ala348=) c.786C>G (p.Ala262=) | ClinVar gnomAD v4 |
| 22 | g.50625999G= | CA2410958785 | ARSA | c.1044C= (p.Ala348=) c.786C= (p.Ala262=) | |
| 22 | g.50625999G>T | CA515248871 | ARSA | c.1044C>A (p.Ala348=) c.786C>A (p.Ala262=) | |
| 22 | g.50626000G>A | CA412171888 | ARSA | c.1043C>T (p.Ala348Val) c.785C>T (p.Ala262Val) | gnomAD v4 |
| 22 | g.50626000G>C | CA412171902 | ARSA | c.1043C>G (p.Ala348Gly) c.785C>G (p.Ala262Gly) | |
| 22 | g.50626000G>T | CA412171905 | ARSA | c.1043C>A (p.Ala348Asp) c.785C>A (p.Ala262Asp) | gnomAD v4 |
| 22 | g.50626001C>A | CA412171911 | ARSA | c.1042G>T (p.Ala348Ser) c.784G>T (p.Ala262Ser) | gnomAD v4 |
| 22 | g.50626001C>G | CA412171923 | ARSA | c.1042G>C (p.Ala348Pro) c.784G>C (p.Ala262Pro) | |
| 22 | g.50626001C>T | CA412171916 | ARSA | c.1042G>A (p.Ala348Thr) c.784G>A (p.Ala262Thr) | |
| 22 | g.50626002C>A | CA515248872 | ARSA | c.1041G>T (p.Gly347=) c.783G>T (p.Gly261=) | gnomAD v4 |
| 22 | g.50626002C= | CA2410958786 | ARSA | c.1041G= (p.Gly347=) c.783G= (p.Gly261=) | |
| 22 | g.50626002C>G | CA515248873 | ARSA | c.1041G>C (p.Gly347=) c.783G>C (p.Gly261=) | |
| 22 | g.50626002C>T | CA515248874 | ARSA | c.1041G>A (p.Gly347=) c.783G>A (p.Gly261=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626003C>A | CA412171946 | ARSA | c.1040G>T (p.Gly347Val) c.782G>T (p.Gly261Val) | gnomAD v4 |
| 22 | g.50626003C= | CA2410958787 | ARSA | c.1040G= (p.Gly347=) c.782G= (p.Gly261=) | |
| 22 | g.50626003C>G | CA412171953 | ARSA | c.1040G>C (p.Gly347Ala) c.782G>C (p.Gly261Ala) | |
| 22 | g.50626003C>T | CA412171954 | ARSA | c.1040G>A (p.Gly347Glu) c.782G>A (p.Gly261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626004C>A | CA412171957 | ARSA | c.1039G>T (p.Gly347Trp) c.781G>T (p.Gly261Trp) | gnomAD v4 |
| 22 | g.50626004C= | CA2410958788 | ARSA | c.1039G= (p.Gly347=) c.781G= (p.Gly261=) | |
| 22 | g.50626004C>G | CA412171961 | ARSA | c.1039G>C (p.Gly347Arg) c.781G>C (p.Gly261Arg) | |
| 22 | g.50626004C>T | CA412171963 | ARSA | c.1039G>A (p.Gly347Arg) c.781G>A (p.Gly261Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626005A>C | CA515248875 | ARSA | c.1038T>G (p.Ala346=) c.780T>G (p.Ala260=) | |
| 22 | g.50626005A>G | CA515248876 | ARSA | c.1038T>C (p.Ala346=) c.780T>C (p.Ala260=) | |
| 22 | g.50626005A>T | CA515248877 | ARSA | c.1038T>A (p.Ala346=) c.780T>A (p.Ala260=) | |
| 22 | g.50626006G>A | CA412171967 | ARSA | c.1037C>T (p.Ala346Val) c.779C>T (p.Ala260Val) | |
| 22 | g.50626006G>C | CA412171975 | ARSA | c.1037C>G (p.Ala346Gly) c.779C>G (p.Ala260Gly) | dbSNP gnomAD v2 |
| 22 | g.50626006G= | CA2410958789 | ARSA | c.1037C= (p.Ala346=) c.779C= (p.Ala260=) | |
| 22 | g.50626006G>T | CA412171978 | ARSA | c.1037C>A (p.Ala346Asp) c.779C>A (p.Ala260Asp) | gnomAD v4 |
| 22 | g.50626006_50626007del | CA913088703 | ARSA | c.1036_1037del (p.Ala346TrpfsTer13) c.778_779del (p.Ala260TrpfsTer13) | |
| 22 | g.50626006_50626007delinsGC | CA2410958790 | ARSA | c.1036_1037delinsGC (p.Ala346=) c.778_779delinsGC (p.Ala260=) | |
| 22 | g.50626007C>A | CA412171999 | ARSA | c.1036G>T (p.Ala346Ser) c.778G>T (p.Ala260Ser) | gnomAD v4 |
| 22 | g.50626007C>G | CA412172002 | ARSA | c.1036G>C (p.Ala346Pro) c.778G>C (p.Ala260Pro) | |
| 22 | g.50626007C>T | CA412171984 | ARSA | c.1036G>A (p.Ala346Thr) c.778G>A (p.Ala260Thr) | gnomAD v4 |
| 22 | g.50626008del | CA658824684 | ARSA | c.1036del (p.Ala346LeufsTer?) c.778del (p.Ala260LeufsTer?) c.1036del (p.Ala346LeufsTer29) | ClinVar dbSNP |
| 22 | g.50626008C>A | CA515248878 | ARSA | c.1035G>T (p.Leu345=) c.777G>T (p.Leu259=) | |
| 22 | g.50626008C>G | CA515248879 | ARSA | c.1035G>C (p.Leu345=) c.777G>C (p.Leu259=) | ClinVar dbSNP |
| 22 | g.50626008C>T | CA515248880 | ARSA | c.1035G>A (p.Leu345=) c.777G>A (p.Leu259=) | |
| 22 | g.50626009A>C | CA412172009 | ARSA | c.1034T>G (p.Leu345Arg) c.776T>G (p.Leu259Arg) | |
| 22 | g.50626009A>G | CA412172018 | ARSA | c.1034T>C (p.Leu345Pro) c.776T>C (p.Leu259Pro) | |
| 22 | g.50626009A>T | CA412172023 | ARSA | c.1034T>A (p.Leu345Gln) c.776T>A (p.Leu259Gln) | |
| 22 | g.50626009_50626010delinsAG | CA2410958791 | ARSA | c.1033_1034delinsCT (p.Leu345=) c.775_776delinsCT (p.Leu259=) | |
| 22 | g.50626010G>A | CA515248882 | ARSA | c.1033C>T (p.Leu345=) c.775C>T (p.Leu259=) | ClinVar |
| 22 | g.50626010G>C | CA10324838 | ARSA | c.1033C>G (p.Leu345Val) c.775C>G (p.Leu259Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626010G= | CA2410958792 | ARSA | c.1033C= (p.Leu345=) c.775C= (p.Leu259=) | |
| 22 | g.50626010G>T | CA412172027 | ARSA | c.1033C>A (p.Leu345Met) c.775C>A (p.Leu259Met) | gnomAD v4 |
| 22 | g.50626012del | CA754068495 | ARSA | c.1033del (p.Leu345TrpfsTer?) c.775del (p.Leu259TrpfsTer?) c.1033del (p.Leu345TrpfsTer30) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626011G>A | CA515248884 | ARSA | c.1032C>T (p.Ala344=) c.774C>T (p.Ala258=) | |
| 22 | g.50626011G>C | CA515248885 | ARSA | c.1032C>G (p.Ala344=) c.774C>G (p.Ala258=) | |
| 22 | g.50626011G>T | CA515248883 | ARSA | c.1032C>A (p.Ala344=) c.774C>A (p.Ala258=) | gnomAD v4 |
| 22 | g.50626012G>A | CA412172031 | ARSA | c.1031C>T (p.Ala344Val) c.773C>T (p.Ala258Val) | dbSNP gnomAD v4 |
| 22 | g.50626012G>C | CA412172038 | ARSA | c.1031C>G (p.Ala344Gly) c.773C>G (p.Ala258Gly) | |
| 22 | g.50626012G= | CA2410958793 | ARSA | c.1031C= (p.Ala344=) c.773C= (p.Ala258=) | |
| 22 | g.50626012G>T | CA412172050 | ARSA | c.1031C>A (p.Ala344Asp) c.773C>A (p.Ala258Asp) | gnomAD v4 |
| 22 | g.50626013del | CA2580100077 | ARSA | c.1030del (p.Ala344ProfsTer?) c.772del (p.Ala258ProfsTer?) | ClinVar |
| 22 | g.50626013C>A | CA412172067 | ARSA | c.1030G>T (p.Ala344Ser) c.772G>T (p.Ala258Ser) | gnomAD v4 |
| 22 | g.50626013C>G | CA412172070 | ARSA | c.1030G>C (p.Ala344Pro) c.772G>C (p.Ala258Pro) | ClinVar |
| 22 | g.50626013C>T | CA412172072 | ARSA | c.1030G>A (p.Ala344Thr) c.772G>A (p.Ala258Thr) | |
| 22 | g.50626014T>A | CA515248886 | ARSA | c.1029A>T (p.Ala343=) c.771A>T (p.Ala257=) | |
| 22 | g.50626014T>C | CA515248887 | ARSA | c.1029A>G (p.Ala343=) c.771A>G (p.Ala257=) | |
| 22 | g.50626014T>G | CA515248888 | ARSA | c.1029A>C (p.Ala343=) c.771A>C (p.Ala257=) | |
| 22 | g.50626015G>A | CA10324839 | ARSA | c.1028C>T (p.Ala343Val) c.770C>T (p.Ala257Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626015G>C | CA412172097 | ARSA | c.1028C>G (p.Ala343Gly) c.770C>G (p.Ala257Gly) | |
| 22 | g.50626015G= | CA2410958794 | ARSA | c.1028C= (p.Ala343=) c.770C= (p.Ala257=) | |
| 22 | g.50626015G>T | CA412172093 | ARSA | c.1028C>A (p.Ala343Glu) c.770C>A (p.Ala257Glu) | gnomAD v4 |
| 22 | g.50626016C>A | CA412172101 | ARSA | c.1027G>T (p.Ala343Ser) c.769G>T (p.Ala257Ser) | |
| 22 | g.50626016C= | CA2410958795 | ARSA | c.1027G= (p.Ala343=) c.769G= (p.Ala257=) | |
| 22 | g.50626016C>G | CA412172106 | ARSA | c.1027G>C (p.Ala343Pro) c.769G>C (p.Ala257Pro) | |
| 22 | g.50626016C>T | CA412172108 | ARSA | c.1027G>A (p.Ala343Thr) c.769G>A (p.Ala257Thr) | dbSNP gnomAD v4 |
| 22 | g.50626017C>A | CA515248889 | ARSA | c.1026G>T (p.Leu342=) c.768G>T (p.Leu256=) | gnomAD v4 |
| 22 | g.50626017C= | CA2410958796 | ARSA | c.1026G= (p.Leu342=) c.768G= (p.Leu256=) | |
| 22 | g.50626017C>G | CA515248890 | ARSA | c.1026G>C (p.Leu342=) c.768G>C (p.Leu256=) | |
| 22 | g.50626017C>T | CA515248891 | ARSA | c.1026G>A (p.Leu342=) c.768G>A (p.Leu256=) | dbSNP gnomAD v2 |
| 22 | g.50626018A>C | CA412172113 | ARSA | c.1025T>G (p.Leu342Arg) c.767T>G (p.Leu256Arg) | |
| 22 | g.50626018A>G | CA412172126 | ARSA | c.1025T>C (p.Leu342Pro) c.767T>C (p.Leu256Pro) | |
| 22 | g.50626018A>T | CA412172131 | ARSA | c.1025T>A (p.Leu342Gln) c.767T>A (p.Leu256Gln) | |
| 22 | g.50626019G>A | CA515248892 | ARSA | c.1024C>T (p.Leu342=) c.766C>T (p.Leu256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G>C | CA412172136 | ARSA | c.1024C>G (p.Leu342Val) c.766C>G (p.Leu256Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G= | CA2410958797 | ARSA | c.1024C= (p.Leu342=) c.766C= (p.Leu256=) | |
| 22 | g.50626019G>T | CA412172142 | ARSA | c.1024C>A (p.Leu342Met) c.766C>A (p.Leu256Met) | |
| 22 | g.50626020G>A | CA515248893 | ARSA | c.1023C>T (p.Thr341=) c.765C>T (p.Thr255=) | gnomAD v4 |
| 22 | g.50626020G>C | CA515248894 | ARSA | c.1023C>G (p.Thr341=) c.765C>G (p.Thr255=) | |
| 22 | g.50626020G>T | CA515248895 | ARSA | c.1023C>A (p.Thr341=) c.765C>A (p.Thr255=) | |
| 22 | g.50626021G>A | CA412172152 | ARSA | c.1022C>T (p.Thr341Ile) c.764C>T (p.Thr255Ile) | |
| 22 | g.50626021G>C | CA412172156 | ARSA | c.1022C>G (p.Thr341Ser) c.764C>G (p.Thr255Ser) | |
| 22 | g.50626021G>T | CA412172160 | ARSA | c.1022C>A (p.Thr341Asn) c.764C>A (p.Thr255Asn) | |
| 22 | g.50626022T>A | CA412172176 | ARSA | c.1021A>T (p.Thr341Ser) c.763A>T (p.Thr255Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626022T>C | CA412172177 | ARSA | c.1021A>G (p.Thr341Ala) c.763A>G (p.Thr255Ala) | |
| 22 | g.50626022T>G | CA412172178 | ARSA | c.1021A>C (p.Thr341Pro) c.763A>C (p.Thr255Pro) | |
| 22 | g.50626022T= | CA2410958798 | ARSA | c.1021A= (p.Thr341=) c.763A= (p.Thr255=) | |
| 22 | g.50626023A= | CA2410958799 | ARSA | c.1020T= (p.Pro340=) c.762T= (p.Pro254=) | |
| 22 | g.50626023A>C | CA515248896 | ARSA | c.1020T>G (p.Pro340=) c.762T>G (p.Pro254=) | |
| 22 | g.50626023A>G | CA515248898 | ARSA | c.1020T>C (p.Pro340=) c.762T>C (p.Pro254=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626023A>T | CA515248897 | ARSA | c.1020T>A (p.Pro340=) c.762T>A (p.Pro254=) | |
| 22 | g.50626024G>A | CA412172185 | ARSA | c.1019C>T (p.Pro340Leu) c.761C>T (p.Pro254Leu) | |
| 22 | g.50626024G>C | CA412172184 | ARSA | c.1019C>G (p.Pro340Arg) c.761C>G (p.Pro254Arg) | |
| 22 | g.50626024G>T | CA412172183 | ARSA | c.1019C>A (p.Pro340His) c.761C>A (p.Pro254His) | |
| 22 | g.50626025G>A | CA412172193 | ARSA | c.1018C>T (p.Pro340Ser) c.760C>T (p.Pro254Ser) | gnomAD v4 |
| 22 | g.50626025G>C | CA412172188 | ARSA | c.1018C>G (p.Pro340Ala) c.760C>G (p.Pro254Ala) | |
| 22 | g.50626025G>T | CA412172192 | ARSA | c.1018C>A (p.Pro340Thr) c.760C>A (p.Pro254Thr) | gnomAD v4 |
| 22 | g.50626026C>A | CA515248899 | ARSA | c.1017G>T (p.Leu339=) c.759G>T (p.Leu253=) | gnomAD v4 |
| 22 | g.50626026C= | CA2410958800 | ARSA | c.1017G= (p.Leu339=) c.759G= (p.Leu253=) | |
| 22 | g.50626026C>G | CA515248900 | ARSA | c.1017G>C (p.Leu339=) c.759G>C (p.Leu253=) | |
| 22 | g.50626026C>T | CA515248901 | ARSA | c.1017G>A (p.Leu339=) c.759G>A (p.Leu253=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626027A>C | CA412172194 | ARSA | c.1016T>G (p.Leu339Arg) c.758T>G (p.Leu253Arg) | |
| 22 | g.50626027A>G | CA412172198 | ARSA | c.1016T>C (p.Leu339Pro) c.758T>C (p.Leu253Pro) | |
| 22 | g.50626027A>T | CA412172201 | ARSA | c.1016T>A (p.Leu339Gln) c.758T>A (p.Leu253Gln) | |
| 22 | g.50626028G>A | CA515248902 | ARSA | c.1015C>T (p.Leu339=) c.757C>T (p.Leu253=) | ClinVar |
| 22 | g.50626028G>C | CA412172207 | ARSA | c.1015C>G (p.Leu339Val) c.757C>G (p.Leu253Val) | |
| 22 | g.50626028G>T | CA412172214 | ARSA | c.1015C>A (p.Leu339Met) c.757C>A (p.Leu253Met) | |
| 22 | g.50626029C>A | CA515248903 | ARSA | c.1014G>T (p.Leu338=) c.756G>T (p.Leu252=) | gnomAD v4 |
| 22 | g.50626029C>G | CA515248904 | ARSA | c.1014G>C (p.Leu338=) c.756G>C (p.Leu252=) | |
| 22 | g.50626029C>T | CA515248905 | ARSA | c.1014G>A (p.Leu338=) c.756G>A (p.Leu252=) | gnomAD v4 |
| 22 | g.50626030A>C | CA412172222 | ARSA | c.1013T>G (p.Leu338Arg) c.755T>G (p.Leu252Arg) | |
| 22 | g.50626030A>G | CA412172224 | ARSA | c.1013T>C (p.Leu338Pro) c.755T>C (p.Leu252Pro) | gnomAD v4 |
| 22 | g.50626030A>T | CA412172223 | ARSA | c.1013T>A (p.Leu338Gln) c.755T>A (p.Leu252Gln) | |
| 22 | g.50626031G>A | CA515248906 | ARSA | c.1012C>T (p.Leu338=) c.754C>T (p.Leu252=) | |
| 22 | g.50626031G>C | CA412172227 | ARSA | c.1012C>G (p.Leu338Val) c.754C>G (p.Leu252Val) | ClinVar dbSNP |
| 22 | g.50626031G>T | CA412172233 | ARSA | c.1012C>A (p.Leu338Met) c.754C>A (p.Leu252Met) | |
| 22 | g.50626032G>A | CA515248907 | ARSA | c.1011C>T (p.Asp337=) c.753C>T (p.Asp251=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626032G>C | CA412172238 | ARSA | c.1011C>G (p.Asp337Glu) c.753C>G (p.Asp251Glu) | |
| 22 | g.50626032G= | CA2410958801 | ARSA | c.1011C= (p.Asp337=) c.753C= (p.Asp251=) | |
| 22 | g.50626032G>T | CA412172255 | ARSA | c.1011C>A (p.Asp337Glu) c.753C>A (p.Asp251Glu) | gnomAD v4 |
| 22 | g.50626033T>A | CA115989 | ARSA | c.1010A>T (p.Asp337Val) c.752A>T (p.Asp251Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626033T>C | CA412172275 | ARSA | c.1010A>G (p.Asp337Gly) c.752A>G (p.Asp251Gly) | gnomAD v4 |
| 22 | g.50626033T>G | CA412172288 | ARSA | c.1010A>C (p.Asp337Ala) c.752A>C (p.Asp251Ala) | |
| 22 | g.50626033T= | CA2410958802 | ARSA | c.1010A= (p.Asp337=) c.752A= (p.Asp251=) | |
| 22 | g.50626034C>A | CA412172292 | ARSA | c.1009G>T (p.Asp337Tyr) c.751G>T (p.Asp251Tyr) | |
| 22 | g.50626034C>G | CA412172293 | ARSA | c.1009G>C (p.Asp337His) c.751G>C (p.Asp251His) | |
| 22 | g.50626034C>T | CA412172296 | ARSA | c.1009G>A (p.Asp337Asn) c.751G>A (p.Asp251Asn) | |
| 22 | g.50626035C>A | CA515248908 | ARSA | c.1008G>T (p.Leu336=) c.750G>T (p.Leu250=) | |
| 22 | g.50626035C>G | CA515248909 | ARSA | c.1008G>C (p.Leu336=) c.750G>C (p.Leu250=) | |
| 22 | g.50626035C>T | CA515248910 | ARSA | c.1008G>A (p.Leu336=) c.750G>A (p.Leu250=) | |
| 22 | g.50626036A= | CA2410958803 | ARSA | c.1007T= (p.Leu336=) c.749T= (p.Leu250=) | |
| 22 | g.50626036A>C | CA412172299 | ARSA | c.1007T>G (p.Leu336Arg) c.749T>G (p.Leu250Arg) | dbSNP |
| 22 | g.50626036A>G | CA412172304 | ARSA | c.1007T>C (p.Leu336Pro) c.749T>C (p.Leu250Pro) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626036A>T | CA412172318 | ARSA | c.1007T>A (p.Leu336Gln) c.749T>A (p.Leu250Gln) | |
| 22 | g.50626037G>A | CA10324840 | ARSA | c.1006C>T (p.Leu336=) c.748C>T (p.Leu250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626037G>C | CA412172336 | ARSA | c.1006C>G (p.Leu336Val) c.748C>G (p.Leu250Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626037G= | CA2410958804 | ARSA | c.1006C= (p.Leu336=) c.748C= (p.Leu250=) | |
| 22 | g.50626037G>T | CA412172339 | ARSA | c.1006C>A (p.Leu336Met) c.748C>A (p.Leu250Met) | gnomAD v4 |
| 22 | g.50626039del | CA2577767905 | ARSA | c.1006del (p.Leu336TrpfsTer?) c.748del (p.Leu250TrpfsTer?) | |
| 22 | g.50626038G>A | CA515248911 | ARSA | c.1005C>T (p.Ser335=) c.747C>T (p.Ser249=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.50626038G>C | CA515248912 | ARSA | c.1005C>G (p.Ser335=) c.747C>G (p.Ser249=) | ClinVar |
| 22 | g.50626038G= | CA2410958805 | ARSA | c.1005C= (p.Ser335=) c.747C= (p.Ser249=) | |
| 22 | g.50626038G>T | CA10324841 | ARSA | c.1005C>A (p.Ser335=) c.747C>A (p.Ser249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626039G>A | CA412172364 | ARSA | c.1004C>T (p.Ser335Phe) c.746C>T (p.Ser249Phe) | |
| 22 | g.50626039G>C | CA412172365 | ARSA | c.1004C>G (p.Ser335Cys) c.746C>G (p.Ser249Cys) | |
| 22 | g.50626039G>T | CA412172370 | ARSA | c.1004C>A (p.Ser335Tyr) c.746C>A (p.Ser249Tyr) | gnomAD v4 |
| 22 | g.50626040A>C | CA412172374 | ARSA | c.1003T>G (p.Ser335Ala) c.745T>G (p.Ser249Ala) | |
| 22 | g.50626040A>G | CA412172379 | ARSA | c.1003T>C (p.Ser335Pro) c.745T>C (p.Ser249Pro) | |
| 22 | g.50626040A>T | CA412172377 | ARSA | c.1003T>A (p.Ser335Thr) c.745T>A (p.Ser249Thr) | |
| 22 | g.50626044_50626051del | CA2657592206 | ARSA | c.996_1003del (p.Ala333ProfsTer24) c.738_745del (p.Ala247ProfsTer24) | gnomAD v4 |
| 22 | g.50626041G>A | CA10324842 | ARSA | c.1002C>T (p.Ser334=) c.744C>T (p.Ser248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626041G>C | CA412172384 | ARSA | c.1002C>G (p.Ser334Arg) c.744C>G (p.Ser248Arg) | |
| 22 | g.50626041G= | CA2410958806 | ARSA | c.1002C= (p.Ser334=) c.744C= (p.Ser248=) | |
| 22 | g.50626041G>T | CA412172386 | ARSA | c.1002C>A (p.Ser334Arg) c.744C>A (p.Ser248Arg) | |
| 22 | g.50626042C>A | CA412172395 | ARSA | c.1001G>T (p.Ser334Ile) c.743G>T (p.Ser248Ile) | gnomAD v4 |
| 22 | g.50626042C>G | CA412172396 | ARSA | c.1001G>C (p.Ser334Thr) c.743G>C (p.Ser248Thr) | |
| 22 | g.50626042C>T | CA412172397 | ARSA | c.1001G>A (p.Ser334Asn) c.743G>A (p.Ser248Asn) | gnomAD v4 |
| 22 | g.50626043T>A | CA412172401 | ARSA | c.1000A>T (p.Ser334Cys) c.742A>T (p.Ser248Cys) | |
| 22 | g.50626043T>C | CA412172402 | ARSA | c.1000A>G (p.Ser334Gly) c.742A>G (p.Ser248Gly) | dbSNP gnomAD v2 |
| 22 | g.50626043T>G | CA412172403 | ARSA | c.1000A>C (p.Ser334Arg) c.742A>C (p.Ser248Arg) | dbSNP gnomAD v2 |
| 22 | g.50626043T= | CA2410958807 | ARSA | c.1000A= (p.Ser334=) c.742A= (p.Ser248=) | |
| 22 | g.50626044G>A | CA10324844 | ARSA | c.999C>T (p.Ala333=) c.741C>T (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626044G>C | CA515248913 | ARSA | c.999C>G (p.Ala333=) c.741C>G (p.Ala247=) | gnomAD v4 |
| 22 | g.50626044G= | CA2410958808 | ARSA | c.999C= (p.Ala333=) c.741C= (p.Ala247=) | |
| 22 | g.50626044G>T | CA10324843 | ARSA | c.999C>A (p.Ala333=) c.741C>A (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626045G>A | CA412172421 | ARSA | c.998C>T (p.Ala333Val) c.740C>T (p.Ala247Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626045G>C | CA412172418 | ARSA | c.998C>G (p.Ala333Gly) c.740C>G (p.Ala247Gly) | |
| 22 | g.50626045G= | CA2410958809 | ARSA | c.998C= (p.Ala333=) c.740C= (p.Ala247=) | |
| 22 | g.50626045G>T | CA412172415 | ARSA | c.998C>A (p.Ala333Asp) c.740C>A (p.Ala247Asp) | gnomAD v4 |
| 22 | g.50626046C>A | CA412172425 | ARSA | c.997G>T (p.Ala333Ser) c.739G>T (p.Ala247Ser) | gnomAD v4 |
| 22 | g.50626046C>G | CA412172431 | ARSA | c.997G>C (p.Ala333Pro) c.739G>C (p.Ala247Pro) | |
| 22 | g.50626046C>T | CA412172437 | ARSA | c.997G>A (p.Ala333Thr) c.739G>A (p.Ala247Thr) | gnomAD v4 |
| 22 | g.50626047C>A | CA515248914 | ARSA | c.996G>T (p.Leu332=) c.738G>T (p.Leu246=) | gnomAD v4 |
| 22 | g.50626047C>G | CA515248915 | ARSA | c.996G>C (p.Leu332=) c.738G>C (p.Leu246=) | |
| 22 | g.50626047C>T | CA515248916 | ARSA | c.996G>A (p.Leu332=) c.738G>A (p.Leu246=) | |
| 22 | g.50626048A>C | CA412172471 | ARSA | c.995T>G (p.Leu332Arg) c.737T>G (p.Leu246Arg) | |
| 22 | g.50626048A>G | CA412172477 | ARSA | c.995T>C (p.Leu332Pro) c.737T>C (p.Leu246Pro) | gnomAD v4 |
| 22 | g.50626048A>T | CA412172490 | ARSA | c.995T>A (p.Leu332Gln) c.737T>A (p.Leu246Gln) | |
| 22 | g.50626049G>A | CA515248917 | ARSA | c.994C>T (p.Leu332=) c.736C>T (p.Leu246=) | gnomAD v4 |
| 22 | g.50626049G>C | CA412172498 | ARSA | c.994C>G (p.Leu332Val) c.736C>G (p.Leu246Val) | |
| 22 | g.50626049G>T | CA412172501 | ARSA | c.994C>A (p.Leu332Met) c.736C>A (p.Leu246Met) | gnomAD v4 COSMIC |
| 22 | g.50626050C>A | CA412172506 | ARSA | c.993G>T (p.Glu331Asp) c.735G>T (p.Glu245Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626050C= | CA2410958810 | ARSA | c.993G= (p.Glu331=) c.735G= (p.Glu245=) | |
| 22 | g.50626050C>G | CA412172508 | ARSA | c.993G>C (p.Glu331Asp) c.735G>C (p.Glu245Asp) | |
| 22 | g.50626050C>T | CA515248918 | ARSA | c.993G>A (p.Glu331=) c.735G>A (p.Glu245=) | gnomAD v4 |
| 22 | g.50626050dup | CA2657592219 | ARSA | c.993dup (p.Leu332AlafsTer28) c.735dup (p.Leu246AlafsTer28) | gnomAD v4 |
| 22 | g.50626051T>A | CA412172510 | ARSA | c.992A>T (p.Glu331Val) c.734A>T (p.Glu245Val) | |
| 22 | g.50626051T>C | CA412172514 | ARSA | c.992A>G (p.Glu331Gly) c.734A>G (p.Glu245Gly) | ClinVar |
| 22 | g.50626051T>G | CA412172521 | ARSA | c.992A>C (p.Glu331Ala) c.734A>C (p.Glu245Ala) | |
| 22 | g.50626052C>A | CA278427 | ARSA | c.991G>T (p.Glu331Ter) c.733G>T (p.Glu245Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626052C= | CA2410958811 | ARSA | c.991G= (p.Glu331=) c.733G= (p.Glu245=) | |
| 22 | g.50626052C>G | CA412172534 | ARSA | c.991G>C (p.Glu331Gln) c.733G>C (p.Glu245Gln) | |
| 22 | g.50626052C>T | CA412172524 | ARSA | c.991G>A (p.Glu331Lys) c.733G>A (p.Glu245Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626053G>A | CA10324845 | ARSA | c.990C>T (p.His330=) c.732C>T (p.His244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626053G>C | CA412172562 | ARSA | c.990C>G (p.His330Gln) c.732C>G (p.His244Gln) | |
| 22 | g.50626053G= | CA2410958812 | ARSA | c.990C= (p.His330=) c.732C= (p.His244=) | |
| 22 | g.50626053G>T | CA412172552 | ARSA | c.990C>A (p.His330Gln) c.732C>A (p.His244Gln) | COSMIC |
| 22 | g.50626054T>A | CA412172563 | ARSA | c.989A>T (p.His330Leu) c.731A>T (p.His244Leu) | |
| 22 | g.50626054T>C | CA412172571 | ARSA | c.989A>G (p.His330Arg) c.731A>G (p.His244Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626054T>G | CA412172567 | ARSA | c.989A>C (p.His330Pro) c.731A>C (p.His244Pro) | |
| 22 | g.50626054T= | CA2410958813 | ARSA | c.989A= (p.His330=) c.731A= (p.His244=) | |
| 22 | g.50626055G>A | CA412172573 | ARSA | c.988C>T (p.His330Tyr) c.730C>T (p.His244Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626055G>C | CA412172576 | ARSA | c.988C>G (p.His330Asp) c.730C>G (p.His244Asp) | |
| 22 | g.50626055G= | CA2410958814 | ARSA | c.988C= (p.His330=) c.730C= (p.His244=) | |
| 22 | g.50626055G>T | CA412172589 | ARSA | c.988C>A (p.His330Asn) c.730C>A (p.His244Asn) | gnomAD v4 |
| 22 | g.50626057dup | CA2695231026 | ARSA | c.988dup (p.His330ProfsTer30) c.730dup (p.His244ProfsTer30) | |
| 22 | g.50626056G>A | CA515248921 | ARSA | c.987C>T (p.Thr329=) c.729C>T (p.Thr243=) | |
| 22 | g.50626056G>C | CA515248920 | ARSA | c.987C>G (p.Thr329=) c.729C>G (p.Thr243=) | |
| 22 | g.50626056G>T | CA515248919 | ARSA | c.987C>A (p.Thr329=) c.729C>A (p.Thr243=) | gnomAD v4 |
| 22 | g.50626057G>A | CA278425 | ARSA | c.986C>T (p.Thr329Ile) c.728C>T (p.Thr243Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626057G>C | CA412172611 | ARSA | c.986C>G (p.Thr329Ser) c.728C>G (p.Thr243Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626057G= | CA2410958815 | ARSA | c.986C= (p.Thr329=) c.728C= (p.Thr243=) | |
| 22 | g.50626057G>T | CA412172620 | ARSA | c.986C>A (p.Thr329Asn) c.728C>A (p.Thr243Asn) | |
| 22 | g.50626058T>A | CA412172638 | ARSA | c.985A>T (p.Thr329Ser) c.727A>T (p.Thr243Ser) | |
| 22 | g.50626058T>C | CA412172644 | ARSA | c.985A>G (p.Thr329Ala) c.727A>G (p.Thr243Ala) | gnomAD v4 |
| 22 | g.50626058T>G | CA412172655 | ARSA | c.985A>C (p.Thr329Pro) c.727A>C (p.Thr243Pro) | |
| 22 | g.50626059C>A | CA515248924 | ARSA | c.984G>T (p.Val328=) c.726G>T (p.Val242=) | gnomAD v4 |
| 22 | g.50626059C>G | CA515248922 | ARSA | c.984G>C (p.Val328=) c.726G>C (p.Val242=) | |
| 22 | g.50626059C>T | CA515248923 | ARSA | c.984G>A (p.Val328=) c.726G>A (p.Val242=) | |
| 22 | g.50626060A>C | CA412172682 | ARSA | c.983T>G (p.Val328Gly) c.725T>G (p.Val242Gly) | |
| 22 | g.50626060A>G | CA412172672 | ARSA | c.983T>C (p.Val328Ala) c.725T>C (p.Val242Ala) | |
| 22 | g.50626060A>T | CA412172666 | ARSA | c.983T>A (p.Val328Glu) c.725T>A (p.Val242Glu) | |
| 22 | g.50626061C>A | CA412172688 | ARSA | c.982G>T (p.Val328Leu) c.724G>T (p.Val242Leu) | |
| 22 | g.50626061C= | CA2410958816 | ARSA | c.982G= (p.Val328=) c.724G= (p.Val242=) | |
| 22 | g.50626061C>G | CA412172694 | ARSA | c.982G>C (p.Val328Leu) c.724G>C (p.Val242Leu) | |
| 22 | g.50626061C>T | CA10324846 | ARSA | c.982G>A (p.Val328Met) c.724G>A (p.Val242Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626062G>A | CA10324847 | ARSA | c.981C>T (p.Gly327=) c.723C>T (p.Gly241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626062G>C | CA515248925 | ARSA | c.981C>G (p.Gly327=) c.723C>G (p.Gly241=) | |
| 22 | g.50626062G= | CA2410958817 | ARSA | c.981C= (p.Gly327=) c.723C= (p.Gly241=) | |
| 22 | g.50626062G>T | CA515248926 | ARSA | c.981C>A (p.Gly327=) c.723C>A (p.Gly241=) | gnomAD v4 |
| 22 | g.50626063C>A | CA412172710 | ARSA | c.980G>T (p.Gly327Val) c.722G>T (p.Gly241Val) | gnomAD v4 |
| 22 | g.50626063C= | CA2410958818 | ARSA | c.980G= (p.Gly327=) c.722G= (p.Gly241=) | |
| 22 | g.50626063C>G | CA412172715 | ARSA | c.980G>C (p.Gly327Ala) c.722G>C (p.Gly241Ala) | |
| 22 | g.50626063C>T | CA325531318 | ARSA | c.980G>A (p.Gly327Asp) c.722G>A (p.Gly241Asp) | dbSNP |
| 22 | g.50626064del | CA2657592244 | ARSA | c.980del c.722del | gnomAD v4 |
| 22 | g.50626064C>A | CA412172725 | ARSA | c.980-1G>T (n.980-1G>T) c.722-1G>T (n.722-1G>T) | gnomAD v4 |
| 22 | g.50626064C>G | CA412172728 | ARSA | c.980-1G>C (n.980-1G>C) c.722-1G>C (n.722-1G>C) | |
| 22 | g.50626064C>T | CA412172729 | ARSA | c.980-1G>A (n.980-1G>A) c.722-1G>A (n.722-1G>A) | gnomAD v4 |
| 22 | g.50626065T>A | CA412172736 | ARSA | c.980-2A>T (n.980-2A>T) c.722-2A>T (n.722-2A>T) | |
| 22 | g.50626065T>C | CA412172738 | ARSA | c.980-2A>G (n.980-2A>G) c.722-2A>G (n.722-2A>G) | gnomAD v4 |
| 22 | g.50626065T>G | CA10324848 | ARSA | c.980-2A>C (n.980-2A>C) c.722-2A>C (n.722-2A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626065T= | CA2410958819 | ARSA | c.980-2A= (n.980-2A=) c.722-2A= (n.722-2A=) | |
| 22 | g.50626066G>A | CA2410958821 | ARSA | c.980-3C>T (n.980-3C>T) c.722-3C>T (n.722-3C>T) | dbSNP gnomAD v4 |
| 22 | g.50626066G= | CA2410958820 | ARSA | c.980-3C= (n.980-3C=) c.722-3C= (n.722-3C=) | |
| 22 | g.50626066G>T | CA2410958822 | ARSA | c.980-3C>A (n.980-3C>A) c.722-3C>A (n.722-3C>A) | dbSNP gnomAD v4 |
| 22 | g.50626067G>A | CA2657592250 | ARSA | c.980-4C>T (n.980-4C>T) c.722-4C>T (n.722-4C>T) | gnomAD v4 |
| 22 | g.50626068G>A | CA2657592252 | ARSA | c.980-5C>T (n.980-5C>T) c.722-5C>T (n.722-5C>T) | dbSNP gnomAD v4 |
| 22 | g.50626068G= | CA2410958823 | ARSA | c.980-5C= (n.980-5C=) c.722-5C= (n.722-5C=) | |
| 22 | g.50626068G>T | CA10324849 | ARSA | c.980-5C>A (n.980-5C>A) c.722-5C>A (n.722-5C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626069G>A | CA1026680624 | ARSA | c.980-6C>T (n.980-6C>T) c.722-6C>T (n.722-6C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626069G>C | CA640358654 | ARSA | c.980-6C>G (n.980-6C>G) c.722-6C>G (n.722-6C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626069G= | CA2410958824 | ARSA | c.980-6C= (n.980-6C=) c.722-6C= (n.722-6C=) | |
| 22 | g.50626069G>T | CA2657592256 | ARSA | c.980-6C>A (n.980-6C>A) c.722-6C>A (n.722-6C>A) | gnomAD v4 |
| 22 | g.50626070G>A | CA640358655 | ARSA | c.980-7C>T (n.980-7C>T) c.722-7C>T (n.722-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626070G= | CA2410958825 | ARSA | c.980-7C= (n.980-7C=) c.722-7C= (n.722-7C=) | |
| 22 | g.50626070G>T | CA2657592262 | ARSA | c.980-7C>A (n.980-7C>A) c.722-7C>A (n.722-7C>A) | gnomAD v4 |