Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70027847T>A | CA2693978762 | EDA | c.527-10T>A (n.527-10T>A) c.131-10T>A (n.131-10T>A) | gnomAD v4 |
X | g.70027848A= | CA2435979536 | EDA | c.527-9A= (n.527-9A=) c.131-9A= (n.131-9A=) | |
X | g.70027848A>G | CA2435979537 | EDA | c.527-9A>G (n.527-9A>G) c.131-9A>G (n.131-9A>G) | ClinVar dbSNP gnomAD v4 |
X | g.70027848A>T | CA2579632456 | EDA | c.527-9A>T (n.527-9A>T) c.131-9A>T (n.131-9A>T) | |
X | g.70027849T>C | CA2579632457 | EDA | c.527-8T>C (n.527-8T>C) c.131-8T>C (n.131-8T>C) | |
X | g.70027853del | CA2693978763 | EDA | c.527-4del (n.527-4del) c.131-4del (n.131-4del) | gnomAD v4 |
X | g.70027850T>C | CA2573159011 | EDA | c.527-7T>C (n.527-7T>C) c.131-7T>C (n.131-7T>C) | ClinVar dbSNP |
X | g.70027851T>G | CA10577175 | EDA | c.527-6T>G (n.527-6T>G) c.131-6T>G (n.131-6T>G) | ClinVar dbSNP |
X | g.70027851T= | CA2435979538 | EDA | c.527-6T= (n.527-6T=) c.131-6T= (n.131-6T=) | |
X | g.70027854C>A | CA2579632458 | EDA | c.527-3C>A (n.527-3C>A) c.131-3C>A (n.131-3C>A) | gnomAD v4 |
X | g.70027854C>G | CA2695234197 | EDA | c.527-3C>G (n.527-3C>G) c.131-3C>G (n.131-3C>G) | |
X | g.70027855A= | CA2435979539 | EDA | c.527-2A= (n.527-2A=) c.131-2A= (n.131-2A=) | |
X | g.70027855A>C | CA413448169 | EDA | c.527-2A>C (n.527-2A>C) c.131-2A>C (n.131-2A>C) | gnomAD v4 |
X | g.70027855A>G | CA413448168 | EDA | c.527-2A>G (n.527-2A>G) c.131-2A>G (n.131-2A>G) | gnomAD v4 |
X | g.70027855A>T | CA413448167 | EDA | c.527-2A>T (n.527-2A>T) c.131-2A>T (n.131-2A>T) | ClinVar dbSNP |
X | g.70027856G>A | CA413448170 | EDA | c.527-1G>A (n.527-1G>A) c.131-1G>A (n.131-1G>A) | |
X | g.70027856G>C | CA413448171 | EDA | c.527-1G>C (n.527-1G>C) c.131-1G>C (n.131-1G>C) | |
X | g.70027856G>T | CA413448172 | EDA | c.527-1G>T (n.527-1G>T) c.131-1G>T (n.131-1G>T) | gnomAD v4 |
X | g.70027857G>A | CA413448173 | EDA | c.527G>A (p.Gly176Glu) c.131G>A (p.Gly44Glu) | |
X | g.70027857G>C | CA413448174 | EDA | c.527G>C (p.Gly176Ala) c.131G>C (p.Gly44Ala) | |
X | g.70027857G>T | CA413448175 | EDA | c.527G>T (p.Gly176Val) c.131G>T (p.Gly44Val) | gnomAD v4 |
X | g.70027858A>C | CA517012642 | EDA | c.528A>C (p.Gly176=) c.132A>C (p.Gly44=) | |
X | g.70027858A>G | CA517012644 | EDA | c.528A>G (p.Gly176=) c.132A>G (p.Gly44=) | ClinVar dbSNP gnomAD v4 |
X | g.70027858A>T | CA517012643 | EDA | c.528A>T (p.Gly176=) c.132A>T (p.Gly44=) | |
X | g.70027859A>C | CA413448176 | EDA | c.529A>C (p.Lys177Gln) c.133A>C (p.Lys45Gln) | |
X | g.70027859A>G | CA413448178 | EDA | c.529A>G (p.Lys177Glu) c.133A>G (p.Lys45Glu) | |
X | g.70027859A>T | CA413448177 | EDA | c.529A>T (p.Lys177Ter) c.133A>T (p.Lys45Ter) | |
X | g.70027860A= | CA2435979540 | EDA | c.530A= (p.Lys177=) c.134A= (p.Lys45=) | |
X | g.70027860A>C | CA413448179 | EDA | c.530A>C (p.Lys177Thr) c.134A>C (p.Lys45Thr) | |
X | g.70027860A>G | CA413448180 | EDA | c.530A>G (p.Lys177Arg) c.134A>G (p.Lys45Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.70027860A>T | CA413448181 | EDA | c.530A>T (p.Lys177Met) c.134A>T (p.Lys45Met) | |
X | g.70027861G>A | CA517012645 | EDA | c.531G>A (p.Lys177=) c.135G>A (p.Lys45=) | |
X | g.70027861G>C | CA10438963 | EDA | c.531G>C (p.Lys177Asn) c.135G>C (p.Lys45Asn) | dbSNP ExAC gnomAD v2 |
X | g.70027861G= | CA2435979541 | EDA | c.531G= (p.Lys177=) c.135G= (p.Lys45=) | |
X | g.70027861G>T | CA413448182 | EDA | c.531G>T (p.Lys177Asn) c.135G>T (p.Lys45Asn) | |
X | g.70027862A>C | CA413448183 | EDA | c.532A>C (p.Lys178Gln) c.136A>C (p.Lys46Gln) | |
X | g.70027862A>G | CA413448184 | EDA | c.532A>G (p.Lys178Glu) c.136A>G (p.Lys46Glu) | ClinVar gnomAD v4 |
X | g.70027862A>T | CA413448185 | EDA | c.532A>T (p.Lys178Ter) c.136A>T (p.Lys46Ter) | |
X | g.70027862_70027864delinsG | CA2695234198 | EDA | c.532_534delinsG (p.Lys178GlyfsTer?) c.136_138delinsG (p.Lys46GlyfsTer?) | |
X | g.70027863A>C | CA413448186 | EDA | c.533A>C (p.Lys178Thr) c.137A>C (p.Lys46Thr) | |
X | g.70027863A>G | CA413448187 | EDA | c.533A>G (p.Lys178Arg) c.137A>G (p.Lys46Arg) | gnomAD v4 |
X | g.70027863A>T | CA413448188 | EDA | c.533A>T (p.Lys178Ile) c.137A>T (p.Lys46Ile) | |
X | g.70027863_70027874del | CA2580101362 | EDA | c.533_544del (p.Lys178_Pro182delinsThr) c.137_148del (p.Lys46_Pro50delinsThr) | ClinVar |
X | g.70027863_70027882delinsCTGAA | CA2695234199 | EDA | c.533_552delinsCTGAA (p.Lys178_Pro184delinsThrGlu) c.137_156delinsCTGAA (p.Lys46_Pro52delinsThrGlu) | |
X | g.70027864A>C | CA413448190 | EDA | c.534A>C (p.Lys178Asn) c.138A>C (p.Lys46Asn) | |
X | g.70027864A>G | CA517012646 | EDA | c.534A>G (p.Lys178=) c.138A>G (p.Lys46=) | |
X | g.70027864A>T | CA413448189 | EDA | c.534A>T (p.Lys178Asn) c.138A>T (p.Lys46Asn) | |
X | g.70027865G>A | CA413448191 | EDA | c.535G>A (p.Ala179Thr) c.139G>A (p.Ala47Thr) | |
X | g.70027865G>C | CA413448193 | EDA | c.535G>C (p.Ala179Pro) c.139G>C (p.Ala47Pro) | gnomAD v4 |
X | g.70027865G>T | CA413448192 | EDA | c.535G>T (p.Ala179Ser) c.139G>T (p.Ala47Ser) | gnomAD v4 |