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