Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50624976G>A | CA2657590150 | ARSA | c.*169C>T (n.*169C>T) c.180+387C>T | gnomAD v4 |
22 | g.50624976G>T | CA2657590152 | ARSA | c.*169C>A (n.*169C>A) c.180+387C>A | gnomAD v4 |
22 | g.50624977G>A | CA2410958243 | ARSA | c.*168C>T (n.*168C>T) c.180+386C>T | dbSNP gnomAD v4 |
22 | g.50624977G= | CA2410958242 | ARSA | c.*168C= (n.*168C=) c.180+386C= | |
22 | g.50624977G>T | CA2657590153 | ARSA | c.*168C>A (n.*168C>A) c.180+386C>A | gnomAD v4 |
22 | g.50624978A>G | CA2657590156 | ARSA | c.*167T>C (n.*167T>C) c.180+385T>C | gnomAD v4 |
22 | g.50624979C>A | CA2657590164 | ARSA | c.*166G>T (n.*166G>T) c.180+384G>T | gnomAD v4 |
22 | g.50624979C>G | CA2657590162 | ARSA | c.*166G>C (n.*166G>C) c.180+384G>C | gnomAD v4 |
22 | g.50624979C>T | CA2657590160 | ARSA | c.*166G>A (n.*166G>A) c.180+384G>A | gnomAD v4 |
22 | g.50624980dup | CA2657590158 | ARSA | c.*166dup (n.*166dup) c.180+384dup | gnomAD v4 |
22 | g.50624980C>A | CA2657590168 | ARSA | c.*165G>T (n.*165G>T) c.180+383G>T | gnomAD v4 |
22 | g.50624980C= | CA2410958244 | ARSA | c.*165G= (n.*165G=) c.180+383G= | |
22 | g.50624980C>G | CA754067056 | ARSA | c.*165G>C (n.*165G>C) c.180+383G>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624980C>T | CA325531083 | ARSA | c.*165G>A (n.*165G>A) c.180+383G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50624981G>A | CA325531086 | ARSA | c.*164C>T (n.*164C>T) c.180+382C>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624981G>C | CA2657590177 | ARSA | c.*164C>G (n.*164C>G) c.180+382C>G | gnomAD v4 |
22 | g.50624981G= | CA2410958245 | ARSA | c.*164C= (n.*164C=) c.180+382C= | |
22 | g.50624981G>T | CA2657590178 | ARSA | c.*164C>A (n.*164C>A) c.180+382C>A | gnomAD v4 |
22 | g.50624981_50624982insA | CA2657590180 | ARSA | c.*163_*164insT (n.*163_*164insT) c.180+381_180+382insT | gnomAD v4 |
22 | g.50624982G>A | CA2657590182 | ARSA | c.*163C>T (n.*163C>T) c.180+381C>T | gnomAD v4 |
22 | g.50624982G>T | CA2657590184 | ARSA | c.*163C>A (n.*163C>A) c.180+381C>A | gnomAD v4 |
22 | g.50624983C>A | CA2657590186 | ARSA | c.*162G>T (n.*162G>T) c.180+380G>T | gnomAD v4 |
22 | g.50624984A>G | CA2657590188 | ARSA | c.*161T>C (n.*161T>C) c.180+379T>C | gnomAD v4 |
22 | g.50624985C>A | CA2657590189 | ARSA | c.*160G>T (n.*160G>T) c.180+378G>T | gnomAD v4 |
22 | g.50624985C>T | CA2657590191 | ARSA | c.*160G>A (n.*160G>A) c.180+378G>A | gnomAD v4 |
22 | g.50624986C>A | CA2657590193 | ARSA | c.*159G>T (n.*159G>T) c.180+377G>T | gnomAD v4 |
22 | g.50624986C= | CA2410958246 | ARSA | c.*159G= (n.*159G=) c.180+377G= | |
22 | g.50624986C>T | CA325531092 | ARSA | c.*159G>A (n.*159G>A) c.180+377G>A | dbSNP gnomAD v4 |
22 | g.50624987A= | CA2410958247 | ARSA | c.*158T= (n.*158T=) c.180+376T= | |
22 | g.50624987A>G | CA325531094 | ARSA | c.*158T>C (n.*158T>C) c.180+376T>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624987A>T | CA2657590198 | ARSA | c.*158T>A (n.*158T>A) c.180+376T>A | gnomAD v4 |
22 | g.50624988G>A | CA2657590200 | ARSA | c.*157C>T (n.*157C>T) c.180+375C>T | gnomAD v4 |
22 | g.50624988G>T | CA2657590202 | ARSA | c.*157C>A (n.*157C>A) c.180+375C>A | gnomAD v4 |
22 | g.50624989C>A | CA2657590203 | ARSA | c.*156G>T (n.*156G>T) c.180+374G>T | gnomAD v4 |
22 | g.50624989C>T | CA2657590204 | ARSA | c.*156G>A (n.*156G>A) c.180+374G>A | gnomAD v4 |
22 | g.50624991C>A | CA2657590205 | ARSA | c.*154G>T (n.*154G>T) c.180+372G>T | gnomAD v4 |
22 | g.50624991C>T | CA2657590206 | ARSA | c.*154G>A (n.*154G>A) c.180+372G>A | gnomAD v4 |
22 | g.50624992A= | CA2410958248 | ARSA | c.*153T= (n.*153T=) c.180+371T= | |
22 | g.50624992A>G | CA325531097 | ARSA | c.*153T>C (n.*153T>C) c.180+371T>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50624993C>A | CA2657590213 | ARSA | c.*152G>T (n.*152G>T) c.180+370G>T | gnomAD v4 |
22 | g.50624993C>T | CA2657590215 | ARSA | c.*152G>A (n.*152G>A) c.180+370G>A | gnomAD v4 |
22 | g.50624996_50625006dup | CA2657590212 | ARSA | c.*142_*152dup (n.*142_*152dup) c.180+360_180+370dup | gnomAD v4 |
22 | g.50624994A>G | CA2657590217 | ARSA | c.*151T>C (n.*151T>C) c.180+369T>C | gnomAD v4 |
22 | g.50624995G>A | CA657868291 | ARSA | c.*150C>T (n.*150C>T) c.180+368C>T | gnomAD v4 COSMIC |
22 | g.50624995G>T | CA2657590219 | ARSA | c.*150C>A (n.*150C>A) c.180+368C>A | gnomAD v4 |
22 | g.50624996C>A | CA2657590221 | ARSA | c.*149G>T (n.*149G>T) c.180+367G>T | gnomAD v4 |
22 | g.50624996C>T | CA2657590222 | ARSA | c.*149G>A (n.*149G>A) c.180+367G>A | gnomAD v4 |
22 | g.50624998T>C | CA2657590223 | ARSA | c.*147A>G (n.*147A>G) c.180+365A>G | gnomAD v4 |
22 | g.50624999T>C | CA2657590224 | ARSA | c.*146A>G (n.*146A>G) c.180+364A>G | gnomAD v4 |
22 | g.50625000del | CA2657590225 | ARSA | c.*145del (n.*145del) c.180+363del | gnomAD v4 |