Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |