Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50086274T>C | CA2693737086 | CLCN5 | c.1015-54T>C (n.1015-54T>C) c.265-54T>C (n.265-54T>C) c.805-54T>C (n.805-54T>C) c.1302-54T>C c.*190-54T>C (n.*190-54T>C) c.865-54T>C (n.865-54T>C) c.1027-54T>C (n.1027-54T>C) | gnomAD v4 |
X | g.50086277A>C | CA2693737087 | CLCN5 | c.1015-51A>C (n.1015-51A>C) c.265-51A>C (n.265-51A>C) c.805-51A>C (n.805-51A>C) c.1302-51A>C c.*190-51A>C (n.*190-51A>C) c.865-51A>C (n.865-51A>C) c.1027-51A>C (n.1027-51A>C) | gnomAD v4 |
X | g.50086278A= | CA2428768823 | CLCN5 | c.1015-50A= (n.1015-50A=) c.265-50A= (n.265-50A=) c.805-50A= (n.805-50A=) c.1302-50A= c.*190-50A= (n.*190-50A=) c.865-50A= (n.865-50A=) c.1027-50A= (n.1027-50A=) | |
X | g.50086278A>C | CA2693737088 | CLCN5 | c.1015-50A>C (n.1015-50A>C) c.265-50A>C (n.265-50A>C) c.805-50A>C (n.805-50A>C) c.1302-50A>C c.*190-50A>C (n.*190-50A>C) c.865-50A>C (n.865-50A>C) c.1027-50A>C (n.1027-50A>C) | gnomAD v4 |
X | g.50086278A>G | CA658082089 | CLCN5 | c.1015-50A>G (n.1015-50A>G) c.265-50A>G (n.265-50A>G) c.805-50A>G (n.805-50A>G) c.1302-50A>G c.*190-50A>G (n.*190-50A>G) c.865-50A>G (n.865-50A>G) c.1027-50A>G (n.1027-50A>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.50086279T>C | CA2693737089 | CLCN5 | c.1015-49T>C (n.1015-49T>C) c.265-49T>C (n.265-49T>C) c.805-49T>C (n.805-49T>C) c.1302-49T>C c.*190-49T>C (n.*190-49T>C) c.865-49T>C (n.865-49T>C) c.1027-49T>C (n.1027-49T>C) | gnomAD v4 |
X | g.50086280A= | CA2428768824 | CLCN5 | c.1015-48A= (n.1015-48A=) c.265-48A= (n.265-48A=) c.805-48A= (n.805-48A=) c.1302-48A= c.*190-48A= (n.*190-48A=) c.865-48A= (n.865-48A=) c.1027-48A= (n.1027-48A=) | |
X | g.50086280A>G | CA1133026327 | CLCN5 | c.1015-48A>G (n.1015-48A>G) c.265-48A>G (n.265-48A>G) c.805-48A>G (n.805-48A>G) c.1302-48A>G c.*190-48A>G (n.*190-48A>G) c.865-48A>G (n.865-48A>G) c.1027-48A>G (n.1027-48A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50086280A>T | CA2693737090 | CLCN5 | c.1015-48A>T (n.1015-48A>T) c.265-48A>T (n.265-48A>T) c.805-48A>T (n.805-48A>T) c.1302-48A>T c.*190-48A>T (n.*190-48A>T) c.865-48A>T (n.865-48A>T) c.1027-48A>T (n.1027-48A>T) | gnomAD v4 |
X | g.50086281G>T | CA2535499107 | CLCN5 | c.1015-47G>T (n.1015-47G>T) c.265-47G>T (n.265-47G>T) c.805-47G>T (n.805-47G>T) c.1302-47G>T c.*190-47G>T (n.*190-47G>T) c.865-47G>T (n.865-47G>T) c.1027-47G>T (n.1027-47G>T) | |
X | g.50086282T>A | CA10413825 | CLCN5 | c.1015-46T>A (n.1015-46T>A) c.265-46T>A (n.265-46T>A) c.805-46T>A (n.805-46T>A) c.1302-46T>A c.*190-46T>A (n.*190-46T>A) c.865-46T>A (n.865-46T>A) c.1027-46T>A (n.1027-46T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50086282T>C | CA2428768826 | CLCN5 | c.1015-46T>C (n.1015-46T>C) c.265-46T>C (n.265-46T>C) c.805-46T>C (n.805-46T>C) c.1302-46T>C c.*190-46T>C (n.*190-46T>C) c.865-46T>C (n.865-46T>C) c.1027-46T>C (n.1027-46T>C) | dbSNP |
X | g.50086282T= | CA2428768825 | CLCN5 | c.1015-46T= (n.1015-46T=) c.265-46T= (n.265-46T=) c.805-46T= (n.805-46T=) c.1302-46T= c.*190-46T= (n.*190-46T=) c.865-46T= (n.865-46T=) c.1027-46T= (n.1027-46T=) | |
X | g.50086283T>C | CA2579610730 | CLCN5 | c.1015-45T>C (n.1015-45T>C) c.265-45T>C (n.265-45T>C) c.805-45T>C (n.805-45T>C) c.1302-45T>C c.*190-45T>C (n.*190-45T>C) c.865-45T>C (n.865-45T>C) c.1027-45T>C (n.1027-45T>C) | |
X | g.50086284T>C | CA10413826 | CLCN5 | c.1015-44T>C (n.1015-44T>C) c.265-44T>C (n.265-44T>C) c.805-44T>C (n.805-44T>C) c.1302-44T>C c.*190-44T>C (n.*190-44T>C) c.865-44T>C (n.865-44T>C) c.1027-44T>C (n.1027-44T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50086284T= | CA2428768827 | CLCN5 | c.1015-44T= (n.1015-44T=) c.265-44T= (n.265-44T=) c.805-44T= (n.805-44T=) c.1302-44T= c.*190-44T= (n.*190-44T=) c.865-44T= (n.865-44T=) c.1027-44T= (n.1027-44T=) | |
X | g.50086285C= | CA2428768828 | CLCN5 | c.1015-43C= (n.1015-43C=) c.265-43C= (n.265-43C=) c.805-43C= (n.805-43C=) c.1302-43C= c.*190-43C= (n.*190-43C=) c.865-43C= (n.865-43C=) c.1027-43C= (n.1027-43C=) | |
X | g.50086285C>G | CA641791809 | CLCN5 | c.1015-43C>G (n.1015-43C>G) c.265-43C>G (n.265-43C>G) c.805-43C>G (n.805-43C>G) c.1302-43C>G c.*190-43C>G (n.*190-43C>G) c.865-43C>G (n.865-43C>G) c.1027-43C>G (n.1027-43C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50086285C>T | CA2693737091 | CLCN5 | c.1015-43C>T (n.1015-43C>T) c.265-43C>T (n.265-43C>T) c.805-43C>T (n.805-43C>T) c.1302-43C>T c.*190-43C>T (n.*190-43C>T) c.865-43C>T (n.865-43C>T) c.1027-43C>T (n.1027-43C>T) | gnomAD v4 |
X | g.50086287G>A | CA2428768830 | CLCN5 | c.1015-41G>A (n.1015-41G>A) c.265-41G>A (n.265-41G>A) c.805-41G>A (n.805-41G>A) c.1302-41G>A c.*190-41G>A (n.*190-41G>A) c.865-41G>A (n.865-41G>A) c.1027-41G>A (n.1027-41G>A) | dbSNP gnomAD v4 |
X | g.50086287G= | CA2428768829 | CLCN5 | c.1015-41G= (n.1015-41G=) c.265-41G= (n.265-41G=) c.805-41G= (n.805-41G=) c.1302-41G= c.*190-41G= (n.*190-41G=) c.865-41G= (n.865-41G=) c.1027-41G= (n.1027-41G=) | |
X | g.50086288C>A | CA2579610731 | CLCN5 | c.1015-40C>A (n.1015-40C>A) c.265-40C>A (n.265-40C>A) c.805-40C>A (n.805-40C>A) c.1302-40C>A c.*190-40C>A (n.*190-40C>A) c.865-40C>A (n.865-40C>A) c.1027-40C>A (n.1027-40C>A) | gnomAD v4 |
X | g.50086288C= | CA2428768831 | CLCN5 | c.1015-40C= (n.1015-40C=) c.265-40C= (n.265-40C=) c.805-40C= (n.805-40C=) c.1302-40C= c.*190-40C= (n.*190-40C=) c.865-40C= (n.865-40C=) c.1027-40C= (n.1027-40C=) | |
X | g.50086288C>T | CA10413827 | CLCN5 | c.1015-40C>T (n.1015-40C>T) c.265-40C>T (n.265-40C>T) c.805-40C>T (n.805-40C>T) c.1302-40C>T c.*190-40C>T (n.*190-40C>T) c.865-40C>T (n.865-40C>T) c.1027-40C>T (n.1027-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50086289G>A | CA641791810 | CLCN5 | c.1015-39G>A (n.1015-39G>A) c.265-39G>A (n.265-39G>A) c.805-39G>A (n.805-39G>A) c.1302-39G>A c.*190-39G>A (n.*190-39G>A) c.865-39G>A (n.865-39G>A) c.1027-39G>A (n.1027-39G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50086289G= | CA2428768832 | CLCN5 | c.1015-39G= (n.1015-39G=) c.265-39G= (n.265-39G=) c.805-39G= (n.805-39G=) c.1302-39G= c.*190-39G= (n.*190-39G=) c.865-39G= (n.865-39G=) c.1027-39G= (n.1027-39G=) | |
X | g.50086293T>G | CA641791812 | CLCN5 | c.1015-35T>G (n.1015-35T>G) c.265-35T>G (n.265-35T>G) c.805-35T>G (n.805-35T>G) c.1302-35T>G c.*190-35T>G (n.*190-35T>G) c.865-35T>G (n.865-35T>G) c.1027-35T>G (n.1027-35T>G) | dbSNP gnomAD v2 |
X | g.50086293T= | CA2428768833 | CLCN5 | c.1015-35T= (n.1015-35T=) c.265-35T= (n.265-35T=) c.805-35T= (n.805-35T=) c.1302-35T= c.*190-35T= (n.*190-35T=) c.865-35T= (n.865-35T=) c.1027-35T= (n.1027-35T=) | |
X | g.50086294G>A | CA2693737092 | CLCN5 | c.1015-34G>A (n.1015-34G>A) c.265-34G>A (n.265-34G>A) c.805-34G>A (n.805-34G>A) c.1302-34G>A c.*190-34G>A (n.*190-34G>A) c.865-34G>A (n.865-34G>A) c.1027-34G>A (n.1027-34G>A) | gnomAD v4 |
X | g.50086294G>T | CA2693737093 | CLCN5 | c.1015-34G>T (n.1015-34G>T) c.265-34G>T (n.265-34G>T) c.805-34G>T (n.805-34G>T) c.1302-34G>T c.*190-34G>T (n.*190-34G>T) c.865-34G>T (n.865-34G>T) c.1027-34G>T (n.1027-34G>T) | gnomAD v4 |
X | g.50086295A= | CA2428768834 | CLCN5 | c.1015-33A= (n.1015-33A=) c.265-33A= (n.265-33A=) c.805-33A= (n.805-33A=) c.1302-33A= c.*190-33A= (n.*190-33A=) c.865-33A= (n.865-33A=) c.1027-33A= (n.1027-33A=) | |
X | g.50086295A>G | CA641791813 | CLCN5 | c.1015-33A>G (n.1015-33A>G) c.265-33A>G (n.265-33A>G) c.805-33A>G (n.805-33A>G) c.1302-33A>G c.*190-33A>G (n.*190-33A>G) c.865-33A>G (n.865-33A>G) c.1027-33A>G (n.1027-33A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50086295A>T | CA2579610732 | CLCN5 | c.1015-33A>T (n.1015-33A>T) c.265-33A>T (n.265-33A>T) c.805-33A>T (n.805-33A>T) c.1302-33A>T c.*190-33A>T (n.*190-33A>T) c.865-33A>T (n.865-33A>T) c.1027-33A>T (n.1027-33A>T) | |
X | g.50086296C>A | CA641791814 | CLCN5 | c.1015-32C>A (n.1015-32C>A) c.265-32C>A (n.265-32C>A) c.805-32C>A (n.805-32C>A) c.1302-32C>A c.*190-32C>A (n.*190-32C>A) c.865-32C>A (n.865-32C>A) c.1027-32C>A (n.1027-32C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50086296C= | CA2428768835 | CLCN5 | c.1015-32C= (n.1015-32C=) c.265-32C= (n.265-32C=) c.805-32C= (n.805-32C=) c.1302-32C= c.*190-32C= (n.*190-32C=) c.865-32C= (n.865-32C=) c.1027-32C= (n.1027-32C=) | |
X | g.50086297T>C | CA2693737094 | CLCN5 | c.1015-31T>C (n.1015-31T>C) c.265-31T>C (n.265-31T>C) c.805-31T>C (n.805-31T>C) c.1302-31T>C c.*190-31T>C (n.*190-31T>C) c.865-31T>C (n.865-31T>C) c.1027-31T>C (n.1027-31T>C) | gnomAD v4 |
X | g.50086298G>T | CA2693737095 | CLCN5 | c.1015-30G>T (n.1015-30G>T) c.265-30G>T (n.265-30G>T) c.805-30G>T (n.805-30G>T) c.1302-30G>T c.*190-30G>T (n.*190-30G>T) c.865-30G>T (n.865-30G>T) c.1027-30G>T (n.1027-30G>T) | gnomAD v4 |
X | g.50086300G>A | CA2693737096 | CLCN5 | c.1015-28G>A (n.1015-28G>A) c.265-28G>A (n.265-28G>A) c.805-28G>A (n.805-28G>A) c.1302-28G>A c.*190-28G>A (n.*190-28G>A) c.865-28G>A (n.865-28G>A) c.1027-28G>A (n.1027-28G>A) | gnomAD v4 |
X | g.50086300G>T | CA2693737097 | CLCN5 | c.1015-28G>T (n.1015-28G>T) c.265-28G>T (n.265-28G>T) c.805-28G>T (n.805-28G>T) c.1302-28G>T c.*190-28G>T (n.*190-28G>T) c.865-28G>T (n.865-28G>T) c.1027-28G>T (n.1027-28G>T) | gnomAD v4 |
X | g.50086305C>A | CA2693737098 | CLCN5 | c.1015-23C>A (n.1015-23C>A) c.265-23C>A (n.265-23C>A) c.805-23C>A (n.805-23C>A) c.1302-23C>A c.*190-23C>A (n.*190-23C>A) c.865-23C>A (n.865-23C>A) c.1027-23C>A (n.1027-23C>A) | gnomAD v4 |
X | g.50086305C= | CA2428768836 | CLCN5 | c.1015-23C= (n.1015-23C=) c.265-23C= (n.265-23C=) c.805-23C= (n.805-23C=) c.1302-23C= c.*190-23C= (n.*190-23C=) c.865-23C= (n.865-23C=) c.1027-23C= (n.1027-23C=) | |
X | g.50086305C>T | CA10413828 | CLCN5 | c.1015-23C>T (n.1015-23C>T) c.265-23C>T (n.265-23C>T) c.805-23C>T (n.805-23C>T) c.1302-23C>T c.*190-23C>T (n.*190-23C>T) c.865-23C>T (n.865-23C>T) c.1027-23C>T (n.1027-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50086306T>C | CA10413829 | CLCN5 | c.1015-22T>C (n.1015-22T>C) c.265-22T>C (n.265-22T>C) c.805-22T>C (n.805-22T>C) c.1302-22T>C c.*190-22T>C (n.*190-22T>C) c.865-22T>C (n.865-22T>C) c.1027-22T>C (n.1027-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50086306T= | CA2428768837 | CLCN5 | c.1015-22T= (n.1015-22T=) c.265-22T= (n.265-22T=) c.805-22T= (n.805-22T=) c.1302-22T= c.*190-22T= (n.*190-22T=) c.865-22T= (n.865-22T=) c.1027-22T= (n.1027-22T=) | |
X | g.50086309C= | CA2428768838 | CLCN5 | c.1015-19C= (n.1015-19C=) c.265-19C= (n.265-19C=) c.805-19C= (n.805-19C=) c.1302-19C= c.*190-19C= (n.*190-19C=) c.865-19C= (n.865-19C=) c.1027-19C= (n.1027-19C=) | |
X | g.50086309C>T | CA10413830 | CLCN5 | c.1015-19C>T (n.1015-19C>T) c.265-19C>T (n.265-19C>T) c.805-19C>T (n.805-19C>T) c.1302-19C>T c.*190-19C>T (n.*190-19C>T) c.865-19C>T (n.865-19C>T) c.1027-19C>T (n.1027-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50086311C>A | CA641791819 | CLCN5 | c.1015-17C>A (n.1015-17C>A) c.265-17C>A (n.265-17C>A) c.805-17C>A (n.805-17C>A) c.1302-17C>A c.*190-17C>A (n.*190-17C>A) c.865-17C>A (n.865-17C>A) c.1027-17C>A (n.1027-17C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50086311C= | CA2428768839 | CLCN5 | c.1015-17C= (n.1015-17C=) c.265-17C= (n.265-17C=) c.805-17C= (n.805-17C=) c.1302-17C= c.*190-17C= (n.*190-17C=) c.865-17C= (n.865-17C=) c.1027-17C= (n.1027-17C=) | |
X | g.50086312A= | CA2428768840 | CLCN5 | c.1015-16A= (n.1015-16A=) c.265-16A= (n.265-16A=) c.805-16A= (n.805-16A=) c.1302-16A= c.*190-16A= (n.*190-16A=) c.865-16A= (n.865-16A=) c.1027-16A= (n.1027-16A=) | |
X | g.50086312A>G | CA876003562 | CLCN5 | c.1015-16A>G (n.1015-16A>G) c.265-16A>G (n.265-16A>G) c.805-16A>G (n.805-16A>G) c.1302-16A>G c.*190-16A>G (n.*190-16A>G) c.865-16A>G (n.865-16A>G) c.1027-16A>G (n.1027-16A>G) | dbSNP gnomAD v4 |
X | g.50086313C>A | CA2693737099 | CLCN5 | c.1015-15C>A (n.1015-15C>A) c.265-15C>A (n.265-15C>A) c.805-15C>A (n.805-15C>A) c.1302-15C>A c.*190-15C>A (n.*190-15C>A) c.865-15C>A (n.865-15C>A) c.1027-15C>A (n.1027-15C>A) | gnomAD v4 |
X | g.50086314C>G | CA2693737100 | CLCN5 | c.1015-14C>G (n.1015-14C>G) c.265-14C>G (n.265-14C>G) c.805-14C>G (n.805-14C>G) c.1302-14C>G c.*190-14C>G (n.*190-14C>G) c.865-14C>G (n.865-14C>G) c.1027-14C>G (n.1027-14C>G) | gnomAD v4 |
X | g.50086314C>T | CA658082090 | CLCN5 | c.1015-14C>T (n.1015-14C>T) c.265-14C>T (n.265-14C>T) c.805-14C>T (n.805-14C>T) c.1302-14C>T c.*190-14C>T (n.*190-14C>T) c.865-14C>T (n.865-14C>T) c.1027-14C>T (n.1027-14C>T) | COSMIC |
X | g.50086315T>C | CA641791820 | CLCN5 | c.1015-13T>C (n.1015-13T>C) c.265-13T>C (n.265-13T>C) c.805-13T>C (n.805-13T>C) c.1302-13T>C c.*190-13T>C (n.*190-13T>C) c.865-13T>C (n.865-13T>C) c.1027-13T>C (n.1027-13T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50086315T= | CA2428768841 | CLCN5 | c.1015-13T= (n.1015-13T=) c.265-13T= (n.265-13T=) c.805-13T= (n.805-13T=) c.1302-13T= c.*190-13T= (n.*190-13T=) c.865-13T= (n.865-13T=) c.1027-13T= (n.1027-13T=) | |
X | g.50086320_50086323del | CA2693737101 | CLCN5 | c.1015-8_1015-5del (n.1015-8_1015-5del) c.265-8_265-5del (n.265-8_265-5del) c.805-8_805-5del (n.805-8_805-5del) c.1302-8_1302-5del c.*190-8_*190-5del (n.*190-8_*190-5del) c.865-8_865-5del (n.865-8_865-5del) c.1027-8_1027-5del (n.1027-8_1027-5del) | gnomAD v4 |
X | g.50086317C>T | CA2693737102 | CLCN5 | c.1015-11C>T (n.1015-11C>T) c.265-11C>T (n.265-11C>T) c.805-11C>T (n.805-11C>T) c.1302-11C>T c.*190-11C>T (n.*190-11C>T) c.865-11C>T (n.865-11C>T) c.1027-11C>T (n.1027-11C>T) | gnomAD v4 |
X | g.50086318T>C | CA10413831 | CLCN5 | c.1015-10T>C (n.1015-10T>C) c.265-10T>C (n.265-10T>C) c.805-10T>C (n.805-10T>C) c.1302-10T>C c.*190-10T>C (n.*190-10T>C) c.865-10T>C (n.865-10T>C) c.1027-10T>C (n.1027-10T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50086318T= | CA2428768842 | CLCN5 | c.1015-10T= (n.1015-10T=) c.265-10T= (n.265-10T=) c.805-10T= (n.805-10T=) c.1302-10T= c.*190-10T= (n.*190-10T=) c.865-10T= (n.865-10T=) c.1027-10T= (n.1027-10T=) | |
X | g.50086321C= | CA2428768843 | CLCN5 | c.1015-7C= (n.1015-7C=) c.265-7C= (n.265-7C=) c.805-7C= (n.805-7C=) c.1302-7C= c.*190-7C= (n.*190-7C=) c.865-7C= (n.865-7C=) c.1027-7C= (n.1027-7C=) | |
X | g.50086321C>G | CA641791822 | CLCN5 | c.1015-7C>G (n.1015-7C>G) c.265-7C>G (n.265-7C>G) c.805-7C>G (n.805-7C>G) c.1302-7C>G c.*190-7C>G (n.*190-7C>G) c.865-7C>G (n.865-7C>G) c.1027-7C>G (n.1027-7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.50086323T>G | CA2428768845 | CLCN5 | c.1015-5T>G (n.1015-5T>G) c.265-5T>G (n.265-5T>G) c.805-5T>G (n.805-5T>G) c.1302-5T>G c.*190-5T>G (n.*190-5T>G) c.865-5T>G (n.865-5T>G) c.1027-5T>G (n.1027-5T>G) | dbSNP |
X | g.50086323T= | CA2428768844 | CLCN5 | c.1015-5T= (n.1015-5T=) c.265-5T= (n.265-5T=) c.805-5T= (n.805-5T=) c.1302-5T= c.*190-5T= (n.*190-5T=) c.865-5T= (n.865-5T=) c.1027-5T= (n.1027-5T=) | |
X | g.50086324C= | CA2428768846 | CLCN5 | c.1015-4C= (n.1015-4C=) c.265-4C= (n.265-4C=) c.805-4C= (n.805-4C=) c.1302-4C= c.*190-4C= (n.*190-4C=) c.865-4C= (n.865-4C=) c.1027-4C= (n.1027-4C=) | |
X | g.50086324C>G | CA10413832 | CLCN5 | c.1015-4C>G (n.1015-4C>G) c.265-4C>G (n.265-4C>G) c.805-4C>G (n.805-4C>G) c.1302-4C>G c.*190-4C>G (n.*190-4C>G) c.865-4C>G (n.865-4C>G) c.1027-4C>G (n.1027-4C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50086324C>T | CA2693737103 | CLCN5 | c.1015-4C>T (n.1015-4C>T) c.265-4C>T (n.265-4C>T) c.805-4C>T (n.805-4C>T) c.1302-4C>T c.*190-4C>T (n.*190-4C>T) c.865-4C>T (n.865-4C>T) c.1027-4C>T (n.1027-4C>T) | gnomAD v4 |
X | g.50086325T>C | CA2428768848 | CLCN5 | c.1015-3T>C (n.1015-3T>C) c.265-3T>C (n.265-3T>C) c.805-3T>C (n.805-3T>C) c.1302-3T>C c.*190-3T>C (n.*190-3T>C) c.865-3T>C (n.865-3T>C) c.1027-3T>C (n.1027-3T>C) | dbSNP |
X | g.50086325T= | CA2428768847 | CLCN5 | c.1015-3T= (n.1015-3T=) c.265-3T= (n.265-3T=) c.805-3T= (n.805-3T=) c.1302-3T= c.*190-3T= (n.*190-3T=) c.865-3T= (n.865-3T=) c.1027-3T= (n.1027-3T=) | |
X | g.50086326A>C | CA413185001 | CLCN5 | c.1015-2A>C (n.1015-2A>C) c.265-2A>C (n.265-2A>C) c.805-2A>C (n.805-2A>C) c.1302-2A>C c.*190-2A>C (n.*190-2A>C) c.865-2A>C (n.865-2A>C) c.1027-2A>C (n.1027-2A>C) | gnomAD v4 |
X | g.50086326A>G | CA413185000 | CLCN5 | c.1015-2A>G (n.1015-2A>G) c.265-2A>G (n.265-2A>G) c.805-2A>G (n.805-2A>G) c.1302-2A>G c.*190-2A>G (n.*190-2A>G) c.865-2A>G (n.865-2A>G) c.1027-2A>G (n.1027-2A>G) | |
X | g.50086326A>T | CA413184999 | CLCN5 | c.1015-2A>T (n.1015-2A>T) c.265-2A>T (n.265-2A>T) c.805-2A>T (n.805-2A>T) c.1302-2A>T c.*190-2A>T (n.*190-2A>T) c.865-2A>T (n.865-2A>T) c.1027-2A>T (n.1027-2A>T) | |
X | g.50086327G>A | CA413185002 | CLCN5 | c.1015-1G>A (n.1015-1G>A) c.265-1G>A (n.265-1G>A) c.805-1G>A (n.805-1G>A) c.1302-1G>A c.*190-1G>A (n.*190-1G>A) c.865-1G>A (n.865-1G>A) c.1027-1G>A (n.1027-1G>A) | ClinVar |
X | g.50086327G>C | CA413185003 | CLCN5 | c.1015-1G>C (n.1015-1G>C) c.265-1G>C (n.265-1G>C) c.805-1G>C (n.805-1G>C) c.1302-1G>C c.*190-1G>C (n.*190-1G>C) c.865-1G>C (n.865-1G>C) c.1027-1G>C (n.1027-1G>C) | |
X | g.50086327G>T | CA413185004 | CLCN5 | c.1015-1G>T (n.1015-1G>T) c.265-1G>T (n.265-1G>T) c.805-1G>T (n.805-1G>T) c.1302-1G>T c.*190-1G>T (n.*190-1G>T) c.865-1G>T (n.865-1G>T) c.1027-1G>T (n.1027-1G>T) | gnomAD v4 |
X | g.50086328G>A | CA329782440 | CLCN5 | c.1015G>A (p.Val339Ile) c.265G>A (p.Val89Ile) c.805G>A (p.Val269Ile) c.1302G>A c.*190G>A (n.*190G>A) c.865G>A (p.Val289Ile) c.1027G>A (p.Val343Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50086328G>C | CA413185005 | CLCN5 | c.1015G>C (p.Val339Leu) c.265G>C (p.Val89Leu) c.805G>C (p.Val269Leu) c.1302G>C c.*190G>C (n.*190G>C) c.865G>C (p.Val289Leu) c.1027G>C (p.Val343Leu) | |
X | g.50086328G= | CA2428768849 | CLCN5 | c.1015G= (p.Val339=) c.265G= (p.Val89=) c.805G= (p.Val269=) c.1302G= c.*190G= (n.*190G=) c.865G= (p.Val289=) c.1027G= (p.Val343=) | |
X | g.50086328G>T | CA413185006 | CLCN5 | c.1015G>T (p.Val339Phe) c.265G>T (p.Val89Phe) c.805G>T (p.Val269Phe) c.1302G>T c.*190G>T (n.*190G>T) c.865G>T (p.Val289Phe) c.1027G>T (p.Val343Phe) | |
X | g.50086329T>A | CA413185007 | CLCN5 | c.1016T>A (p.Val339Asp) c.266T>A (p.Val89Asp) c.806T>A (p.Val269Asp) c.1303T>A c.*191T>A (n.*191T>A) c.866T>A (p.Val289Asp) c.1028T>A (p.Val343Asp) | |
X | g.50086329T>C | CA413185008 | CLCN5 | c.1016T>C (p.Val339Ala) c.266T>C (p.Val89Ala) c.806T>C (p.Val269Ala) c.1303T>C c.*191T>C (n.*191T>C) c.866T>C (p.Val289Ala) c.1028T>C (p.Val343Ala) | |
X | g.50086329T>G | CA413185009 | CLCN5 | c.1016T>G (p.Val339Gly) c.266T>G (p.Val89Gly) c.806T>G (p.Val269Gly) c.1303T>G c.*191T>G (n.*191T>G) c.866T>G (p.Val289Gly) c.1028T>G (p.Val343Gly) | |
X | g.50086330C>A | CA516470755 | CLCN5 | c.1017C>A (p.Val339=) c.267C>A (p.Val89=) c.807C>A (p.Val269=) c.1304C>A c.*192C>A (n.*192C>A) c.867C>A (p.Val289=) c.1029C>A (p.Val343=) | gnomAD v4 |
X | g.50086330C>G | CA516470756 | CLCN5 | c.1017C>G (p.Val339=) c.267C>G (p.Val89=) c.807C>G (p.Val269=) c.1304C>G c.*192C>G (n.*192C>G) c.867C>G (p.Val289=) c.1029C>G (p.Val343=) | gnomAD v4 |
X | g.50086330C>T | CA516470757 | CLCN5 | c.1017C>T (p.Val339=) c.267C>T (p.Val89=) c.807C>T (p.Val269=) c.1304C>T c.*192C>T (n.*192C>T) c.867C>T (p.Val289=) c.1029C>T (p.Val343=) | |
X | g.50086331A>C | CA413185010 | CLCN5 | c.1018A>C (p.Ser340Arg) c.268A>C (p.Ser90Arg) c.808A>C (p.Ser270Arg) c.1305A>C c.*193A>C (n.*193A>C) c.868A>C (p.Ser290Arg) c.1030A>C (p.Ser344Arg) | |
X | g.50086331A>G | CA413185011 | CLCN5 | c.1018A>G (p.Ser340Gly) c.268A>G (p.Ser90Gly) c.808A>G (p.Ser270Gly) c.1305A>G c.*193A>G (n.*193A>G) c.868A>G (p.Ser290Gly) c.1030A>G (p.Ser344Gly) | ClinVar dbSNP |
X | g.50086331A>T | CA413185012 | CLCN5 | c.1018A>T (p.Ser340Cys) c.268A>T (p.Ser90Cys) c.808A>T (p.Ser270Cys) c.1305A>T c.*193A>T (n.*193A>T) c.868A>T (p.Ser290Cys) c.1030A>T (p.Ser344Cys) | |
X | g.50086332G>A | CA413185014 | CLCN5 | c.1019G>A (p.Ser340Asn) c.269G>A (p.Ser90Asn) c.809G>A (p.Ser270Asn) c.1306G>A c.*194G>A (n.*194G>A) c.869G>A (p.Ser290Asn) c.1031G>A (p.Ser344Asn) | COSMIC COSMIC |
X | g.50086332G>C | CA413185015 | CLCN5 | c.1019G>C (p.Ser340Thr) c.269G>C (p.Ser90Thr) c.809G>C (p.Ser270Thr) c.1306G>C c.*194G>C (n.*194G>C) c.869G>C (p.Ser290Thr) c.1031G>C (p.Ser344Thr) | |
X | g.50086332G>T | CA413185013 | CLCN5 | c.1019G>T (p.Ser340Ile) c.269G>T (p.Ser90Ile) c.809G>T (p.Ser270Ile) c.1306G>T c.*194G>T (n.*194G>T) c.869G>T (p.Ser290Ile) c.1031G>T (p.Ser344Ile) | |
X | g.50086333C>A | CA413185016 | CLCN5 | c.1020C>A (p.Ser340Arg) c.270C>A (p.Ser90Arg) c.810C>A (p.Ser270Arg) c.1307C>A c.*195C>A (n.*195C>A) c.870C>A (p.Ser290Arg) c.1032C>A (p.Ser344Arg) | |
X | g.50086333C>G | CA413185017 | CLCN5 | c.1020C>G (p.Ser340Arg) c.270C>G (p.Ser90Arg) c.810C>G (p.Ser270Arg) c.1307C>G c.*195C>G (n.*195C>G) c.870C>G (p.Ser290Arg) c.1032C>G (p.Ser344Arg) | |
X | g.50086333C>T | CA516470758 | CLCN5 | c.1020C>T (p.Ser340=) c.270C>T (p.Ser90=) c.810C>T (p.Ser270=) c.1307C>T c.*195C>T (n.*195C>T) c.870C>T (p.Ser290=) c.1032C>T (p.Ser344=) | |
X | g.50086334T>A | CA413185018 | CLCN5 | c.1021T>A (p.Tyr341Asn) c.271T>A (p.Tyr91Asn) c.811T>A (p.Tyr271Asn) c.1308T>A c.*196T>A (n.*196T>A) c.871T>A (p.Tyr291Asn) c.1033T>A (p.Tyr345Asn) | |
X | g.50086334T>C | CA413185019 | CLCN5 | c.1021T>C (p.Tyr341His) c.271T>C (p.Tyr91His) c.811T>C (p.Tyr271His) c.1308T>C c.*196T>C (n.*196T>C) c.871T>C (p.Tyr291His) c.1033T>C (p.Tyr345His) | |
X | g.50086334T>G | CA413185020 | CLCN5 | c.1021T>G (p.Tyr341Asp) c.271T>G (p.Tyr91Asp) c.811T>G (p.Tyr271Asp) c.1308T>G c.*196T>G (n.*196T>G) c.871T>G (p.Tyr291Asp) c.1033T>G (p.Tyr345Asp) | |
X | g.50086335A>C | CA413185021 | CLCN5 | c.1022A>C (p.Tyr341Ser) c.272A>C (p.Tyr91Ser) c.812A>C (p.Tyr271Ser) c.1309A>C c.*197A>C (n.*197A>C) c.872A>C (p.Tyr291Ser) c.1034A>C (p.Tyr345Ser) | |
X | g.50086335A>G | CA413185022 | CLCN5 | c.1022A>G (p.Tyr341Cys) c.272A>G (p.Tyr91Cys) c.812A>G (p.Tyr271Cys) c.1309A>G c.*197A>G (n.*197A>G) c.872A>G (p.Tyr291Cys) c.1034A>G (p.Tyr345Cys) | |
X | g.50086335A>T | CA413185023 | CLCN5 | c.1022A>T (p.Tyr341Phe) c.272A>T (p.Tyr91Phe) c.812A>T (p.Tyr271Phe) c.1309A>T c.*197A>T (n.*197A>T) c.872A>T (p.Tyr291Phe) c.1034A>T (p.Tyr345Phe) | |
X | g.50086336C>A | CA413185024 | CLCN5 | c.1023C>A (p.Tyr341Ter) c.273C>A (p.Tyr91Ter) c.813C>A (p.Tyr271Ter) c.1310C>A c.*198C>A (n.*198C>A) c.873C>A (p.Tyr291Ter) c.1035C>A (p.Tyr345Ter) | |
X | g.50086336C>G | CA413185025 | CLCN5 | c.1023C>G (p.Tyr341Ter) c.273C>G (p.Tyr91Ter) c.813C>G (p.Tyr271Ter) c.1310C>G c.*198C>G (n.*198C>G) c.873C>G (p.Tyr291Ter) c.1035C>G (p.Tyr345Ter) | |
X | g.50086336C>T | CA516470759 | CLCN5 | c.1023C>T (p.Tyr341=) c.273C>T (p.Tyr91=) c.813C>T (p.Tyr271=) c.1310C>T c.*198C>T (n.*198C>T) c.873C>T (p.Tyr291=) c.1035C>T (p.Tyr345=) | COSMIC COSMIC |
X | g.50086337T>A | CA413185026 | CLCN5 | c.1024T>A (p.Tyr342Asn) c.274T>A (p.Tyr92Asn) c.814T>A (p.Tyr272Asn) c.1311T>A c.*199T>A (n.*199T>A) c.874T>A (p.Tyr292Asn) c.1036T>A (p.Tyr346Asn) | |
X | g.50086337T>C | CA413185027 | CLCN5 | c.1024T>C (p.Tyr342His) c.274T>C (p.Tyr92His) c.814T>C (p.Tyr272His) c.1311T>C c.*199T>C (n.*199T>C) c.874T>C (p.Tyr292His) c.1036T>C (p.Tyr346His) | |
X | g.50086337T>G | CA413185028 | CLCN5 | c.1024T>G (p.Tyr342Asp) c.274T>G (p.Tyr92Asp) c.814T>G (p.Tyr272Asp) c.1311T>G c.*199T>G (n.*199T>G) c.874T>G (p.Tyr292Asp) c.1036T>G (p.Tyr346Asp) | |
X | g.50086338A= | CA2428768850 | CLCN5 | c.1025A= (p.Tyr342=) c.275A= (p.Tyr92=) c.815A= (p.Tyr272=) c.1312A= c.*200A= (n.*200A=) c.875A= (p.Tyr292=) c.1037A= (p.Tyr346=) | |
X | g.50086338A>C | CA413185030 | CLCN5 | c.1025A>C (p.Tyr342Ser) c.275A>C (p.Tyr92Ser) c.815A>C (p.Tyr272Ser) c.1312A>C c.*200A>C (n.*200A>C) c.875A>C (p.Tyr292Ser) c.1037A>C (p.Tyr346Ser) | |
X | g.50086338A>G | CA343847 | CLCN5 | c.1025A>G (p.Tyr342Cys) c.275A>G (p.Tyr92Cys) c.815A>G (p.Tyr272Cys) c.1312A>G c.*200A>G (n.*200A>G) c.875A>G (p.Tyr292Cys) c.1037A>G (p.Tyr346Cys) | ClinVar dbSNP |
X | g.50086338A>T | CA413185029 | CLCN5 | c.1025A>T (p.Tyr342Phe) c.275A>T (p.Tyr92Phe) c.815A>T (p.Tyr272Phe) c.1312A>T c.*200A>T (n.*200A>T) c.875A>T (p.Tyr292Phe) c.1037A>T (p.Tyr346Phe) | |
X | g.50086339T>A | CA413185031 | CLCN5 | c.1026T>A (p.Tyr342Ter) c.276T>A (p.Tyr92Ter) c.816T>A (p.Tyr272Ter) c.1313T>A c.*201T>A (n.*201T>A) c.876T>A (p.Tyr292Ter) c.1038T>A (p.Tyr346Ter) | |
X | g.50086339T>C | CA516470760 | CLCN5 | c.1026T>C (p.Tyr342=) c.276T>C (p.Tyr92=) c.816T>C (p.Tyr272=) c.1313T>C c.*201T>C (n.*201T>C) c.876T>C (p.Tyr292=) c.1038T>C (p.Tyr346=) | |
X | g.50086339T>G | CA413185032 | CLCN5 | c.1026T>G (p.Tyr342Ter) c.276T>G (p.Tyr92Ter) c.816T>G (p.Tyr272Ter) c.1313T>G c.*201T>G (n.*201T>G) c.876T>G (p.Tyr292Ter) c.1038T>G (p.Tyr346Ter) | |
X | g.50086342dup | CA329782441 | CLCN5 | c.1029dup (p.Pro344SerfsTer?) c.279dup (p.Pro94SerfsTer?) c.819dup (p.Pro274SerfsTer?) c.1316dup c.*204dup (n.*204dup) c.879dup (p.Pro294SerfsTer?) c.1041dup (p.Pro348SerfsTer?) | dbSNP |
X | g.50086342del | CA645611538 | CLCN5 | c.1029del (p.Leu345SerfsTer?) c.279del (p.Leu95SerfsTer?) c.819del (p.Leu275SerfsTer?) c.1316del c.*204del (n.*204del) c.879del (p.Leu295SerfsTer?) c.1041del (p.Leu349SerfsTer?) | COSMIC |
X | g.50086340T>A | CA413185033 | CLCN5 | c.1027T>A (p.Phe343Ile) c.277T>A (p.Phe93Ile) c.817T>A (p.Phe273Ile) c.1314T>A c.*202T>A (n.*202T>A) c.877T>A (p.Phe293Ile) c.1039T>A (p.Phe347Ile) | |
X | g.50086340T>C | CA413185034 | CLCN5 | c.1027T>C (p.Phe343Leu) c.277T>C (p.Phe93Leu) c.817T>C (p.Phe273Leu) c.1314T>C c.*202T>C (n.*202T>C) c.877T>C (p.Phe293Leu) c.1039T>C (p.Phe347Leu) | ClinVar dbSNP |
X | g.50086340T>G | CA413185035 | CLCN5 | c.1027T>G (p.Phe343Val) c.277T>G (p.Phe93Val) c.817T>G (p.Phe273Val) c.1314T>G c.*202T>G (n.*202T>G) c.877T>G (p.Phe293Val) c.1039T>G (p.Phe347Val) | |
X | g.50086341T>A | CA413185036 | CLCN5 | c.1028T>A (p.Phe343Tyr) c.278T>A (p.Phe93Tyr) c.818T>A (p.Phe273Tyr) c.1315T>A c.*203T>A (n.*203T>A) c.878T>A (p.Phe293Tyr) c.1040T>A (p.Phe347Tyr) | |
X | g.50086341T>C | CA413185037 | CLCN5 | c.1028T>C (p.Phe343Ser) c.278T>C (p.Phe93Ser) c.818T>C (p.Phe273Ser) c.1315T>C c.*203T>C (n.*203T>C) c.878T>C (p.Phe293Ser) c.1040T>C (p.Phe347Ser) | |
X | g.50086341T>G | CA413185038 | CLCN5 | c.1028T>G (p.Phe343Cys) c.278T>G (p.Phe93Cys) c.818T>G (p.Phe273Cys) c.1315T>G c.*203T>G (n.*203T>G) c.878T>G (p.Phe293Cys) c.1040T>G (p.Phe347Cys) | |
X | g.50086342T>A | CA413185039 | CLCN5 | c.1029T>A (p.Phe343Leu) c.279T>A (p.Phe93Leu) c.819T>A (p.Phe273Leu) c.1316T>A c.*204T>A (n.*204T>A) c.879T>A (p.Phe293Leu) c.1041T>A (p.Phe347Leu) | |
X | g.50086342T>C | CA516470761 | CLCN5 | c.1029T>C (p.Phe343=) c.279T>C (p.Phe93=) c.819T>C (p.Phe273=) c.1316T>C c.*204T>C (n.*204T>C) c.879T>C (p.Phe293=) c.1041T>C (p.Phe347=) | |
X | g.50086342T>G | CA413185040 | CLCN5 | c.1029T>G (p.Phe343Leu) c.279T>G (p.Phe93Leu) c.819T>G (p.Phe273Leu) c.1316T>G c.*204T>G (n.*204T>G) c.879T>G (p.Phe293Leu) c.1041T>G (p.Phe347Leu) | |
X | g.50086343C>A | CA413185041 | CLCN5 | c.1030C>A (p.Pro344Thr) c.280C>A (p.Pro94Thr) c.820C>A (p.Pro274Thr) c.1317C>A c.*205C>A (n.*205C>A) c.880C>A (p.Pro294Thr) c.1042C>A (p.Pro348Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50086343C= | CA2428768851 | CLCN5 | c.1030C= (p.Pro344=) c.280C= (p.Pro94=) c.820C= (p.Pro274=) c.1317C= c.*205C= (n.*205C=) c.880C= (p.Pro294=) c.1042C= (p.Pro348=) | |
X | g.50086343C>G | CA413185042 | CLCN5 | c.1030C>G (p.Pro344Ala) c.280C>G (p.Pro94Ala) c.820C>G (p.Pro274Ala) c.1317C>G c.*205C>G (n.*205C>G) c.880C>G (p.Pro294Ala) c.1042C>G (p.Pro348Ala) | gnomAD v4 |
X | g.50086343C>T | CA413185043 | CLCN5 | c.1030C>T (p.Pro344Ser) c.280C>T (p.Pro94Ser) c.820C>T (p.Pro274Ser) c.1317C>T c.*205C>T (n.*205C>T) c.880C>T (p.Pro294Ser) c.1042C>T (p.Pro348Ser) | |
X | g.50086346dup | CA645611539 | CLCN5 | c.1033dup (p.Leu345ProfsTer?) c.283dup (p.Leu95ProfsTer?) c.823dup (p.Leu275ProfsTer?) c.1320dup c.*208dup (n.*208dup) c.883dup (p.Leu295ProfsTer?) c.1045dup (p.Leu349ProfsTer?) | COSMIC COSMIC |
X | g.50086344C>A | CA413185045 | CLCN5 | c.1031C>A (p.Pro344His) c.281C>A (p.Pro94His) c.821C>A (p.Pro274His) c.1318C>A c.*206C>A (n.*206C>A) c.881C>A (p.Pro294His) c.1043C>A (p.Pro348His) | |
X | g.50086344C>G | CA413185046 | CLCN5 | c.1031C>G (p.Pro344Arg) c.281C>G (p.Pro94Arg) c.821C>G (p.Pro274Arg) c.1318C>G c.*206C>G (n.*206C>G) c.881C>G (p.Pro294Arg) c.1043C>G (p.Pro348Arg) | |
X | g.50086344C>T | CA413185044 | CLCN5 | c.1031C>T (p.Pro344Leu) c.281C>T (p.Pro94Leu) c.821C>T (p.Pro274Leu) c.1318C>T c.*206C>T (n.*206C>T) c.881C>T (p.Pro294Leu) c.1043C>T (p.Pro348Leu) | |
X | g.50086345C>A | CA516470764 | CLCN5 | c.1032C>A (p.Pro344=) c.282C>A (p.Pro94=) c.822C>A (p.Pro274=) c.1319C>A c.*207C>A (n.*207C>A) c.882C>A (p.Pro294=) c.1044C>A (p.Pro348=) | |
X | g.50086345C= | CA2428768852 | CLCN5 | c.1032C= (p.Pro344=) c.282C= (p.Pro94=) c.822C= (p.Pro274=) c.1319C= c.*207C= (n.*207C=) c.882C= (p.Pro294=) c.1044C= (p.Pro348=) | |
X | g.50086345C>G | CA516470763 | CLCN5 | c.1032C>G (p.Pro344=) c.282C>G (p.Pro94=) c.822C>G (p.Pro274=) c.1319C>G c.*207C>G (n.*207C>G) c.882C>G (p.Pro294=) c.1044C>G (p.Pro348=) | dbSNP |
X | g.50086345C>T | CA516470762 | CLCN5 | c.1032C>T (p.Pro344=) c.282C>T (p.Pro94=) c.822C>T (p.Pro274=) c.1319C>T c.*207C>T (n.*207C>T) c.882C>T (p.Pro294=) c.1044C>T (p.Pro348=) | |
X | g.50086346C>A | CA413185048 | CLCN5 | c.1033C>A (p.Leu345Ile) c.283C>A (p.Leu95Ile) c.823C>A (p.Leu275Ile) c.1320C>A c.*208C>A (n.*208C>A) c.883C>A (p.Leu295Ile) c.1045C>A (p.Leu349Ile) | |
X | g.50086346C>G | CA413185047 | CLCN5 | c.1033C>G (p.Leu345Val) c.283C>G (p.Leu95Val) c.823C>G (p.Leu275Val) c.1320C>G c.*208C>G (n.*208C>G) c.883C>G (p.Leu295Val) c.1045C>G (p.Leu349Val) | |
X | g.50086346C>T | CA413185049 | CLCN5 | c.1033C>T (p.Leu345Phe) c.283C>T (p.Leu95Phe) c.823C>T (p.Leu275Phe) c.1320C>T c.*208C>T (n.*208C>T) c.883C>T (p.Leu295Phe) c.1045C>T (p.Leu349Phe) | gnomAD v4 |
X | g.50086347T>A | CA413185050 | CLCN5 | c.1034T>A (p.Leu345His) c.284T>A (p.Leu95His) c.824T>A (p.Leu275His) c.1321T>A c.*209T>A (n.*209T>A) c.884T>A (p.Leu295His) c.1046T>A (p.Leu349His) | |
X | g.50086347T>C | CA413185051 | CLCN5 | c.1034T>C (p.Leu345Pro) c.284T>C (p.Leu95Pro) c.824T>C (p.Leu275Pro) c.1321T>C c.*209T>C (n.*209T>C) c.884T>C (p.Leu295Pro) c.1046T>C (p.Leu349Pro) | |
X | g.50086347T>G | CA413185052 | CLCN5 | c.1034T>G (p.Leu345Arg) c.284T>G (p.Leu95Arg) c.824T>G (p.Leu275Arg) c.1321T>G c.*209T>G (n.*209T>G) c.884T>G (p.Leu295Arg) c.1046T>G (p.Leu349Arg) | |
X | g.50086348C>A | CA516470765 | CLCN5 | c.1035C>A (p.Leu345=) c.285C>A (p.Leu95=) c.825C>A (p.Leu275=) c.1322C>A c.*210C>A (n.*210C>A) c.885C>A (p.Leu295=) c.1047C>A (p.Leu349=) | |
X | g.50086348C>G | CA516470767 | CLCN5 | c.1035C>G (p.Leu345=) c.285C>G (p.Leu95=) c.825C>G (p.Leu275=) c.1322C>G c.*210C>G (n.*210C>G) c.885C>G (p.Leu295=) c.1047C>G (p.Leu349=) | |
X | g.50086348C>T | CA516470766 | CLCN5 | c.1035C>T (p.Leu345=) c.285C>T (p.Leu95=) c.825C>T (p.Leu275=) c.1322C>T c.*210C>T (n.*210C>T) c.885C>T (p.Leu295=) c.1047C>T (p.Leu349=) | |
X | g.50086349A>C | CA413185053 | CLCN5 | c.1036A>C (p.Lys346Gln) c.286A>C (p.Lys96Gln) c.826A>C (p.Lys276Gln) c.1323A>C c.*211A>C (n.*211A>C) c.886A>C (p.Lys296Gln) c.1048A>C (p.Lys350Gln) | |
X | g.50086349A>G | CA413185054 | CLCN5 | c.1036A>G (p.Lys346Glu) c.286A>G (p.Lys96Glu) c.826A>G (p.Lys276Glu) c.1323A>G c.*211A>G (n.*211A>G) c.886A>G (p.Lys296Glu) c.1048A>G (p.Lys350Glu) | |
X | g.50086349A>T | CA413185055 | CLCN5 | c.1036A>T (p.Lys346Ter) c.286A>T (p.Lys96Ter) c.826A>T (p.Lys276Ter) c.1323A>T c.*211A>T (n.*211A>T) c.886A>T (p.Lys296Ter) c.1048A>T (p.Lys350Ter) | |
X | g.50086350A>C | CA413185058 | CLCN5 | c.1037A>C (p.Lys346Thr) c.287A>C (p.Lys96Thr) c.827A>C (p.Lys276Thr) c.1324A>C c.*212A>C (n.*212A>C) c.887A>C (p.Lys296Thr) c.1049A>C (p.Lys350Thr) | |
X | g.50086350A>G | CA413185056 | CLCN5 | c.1037A>G (p.Lys346Arg) c.287A>G (p.Lys96Arg) c.827A>G (p.Lys276Arg) c.1324A>G c.*212A>G (n.*212A>G) c.887A>G (p.Lys296Arg) c.1049A>G (p.Lys350Arg) | |
X | g.50086350A>T | CA413185057 | CLCN5 | c.1037A>T (p.Lys346Ile) c.287A>T (p.Lys96Ile) c.827A>T (p.Lys276Ile) c.1324A>T c.*212A>T (n.*212A>T) c.887A>T (p.Lys296Ile) c.1049A>T (p.Lys350Ile) | |
X | g.50086351A>C | CA413185059 | CLCN5 | c.1038A>C (p.Lys346Asn) c.288A>C (p.Lys96Asn) c.828A>C (p.Lys276Asn) c.1325A>C c.*213A>C (n.*213A>C) c.888A>C (p.Lys296Asn) c.1050A>C (p.Lys350Asn) | |
X | g.50086351A>G | CA516677995 | CLCN5 | c.1038A>G (p.Lys346=) c.288A>G (p.Lys96=) c.828A>G (p.Lys276=) c.1325A>G c.*213A>G (n.*213A>G) c.888A>G (p.Lys296=) c.1050A>G (p.Lys350=) | |
X | g.50086351A>T | CA413185060 | CLCN5 | c.1038A>T (p.Lys346Asn) c.288A>T (p.Lys96Asn) c.828A>T (p.Lys276Asn) c.1325A>T c.*213A>T (n.*213A>T) c.888A>T (p.Lys296Asn) c.1050A>T (p.Lys350Asn) | |
X | g.50086352A>C | CA413185061 | CLCN5 | c.1039A>C (p.Thr347Pro) c.289A>C (p.Thr97Pro) c.829A>C (p.Thr277Pro) c.1326A>C c.*214A>C (n.*214A>C) c.889A>C (p.Thr297Pro) c.1051A>C (p.Thr351Pro) | |
X | g.50086352A>G | CA413185062 | CLCN5 | c.1039A>G (p.Thr347Ala) c.289A>G (p.Thr97Ala) c.829A>G (p.Thr277Ala) c.1326A>G c.*214A>G (n.*214A>G) c.889A>G (p.Thr297Ala) c.1051A>G (p.Thr351Ala) | |
X | g.50086352A>T | CA413185063 | CLCN5 | c.1039A>T (p.Thr347Ser) c.289A>T (p.Thr97Ser) c.829A>T (p.Thr277Ser) c.1326A>T c.*214A>T (n.*214A>T) c.889A>T (p.Thr297Ser) c.1051A>T (p.Thr351Ser) | |
X | g.50086353C>A | CA413185064 | CLCN5 | c.1040C>A (p.Thr347Lys) c.290C>A (p.Thr97Lys) c.830C>A (p.Thr277Lys) c.1327C>A c.*215C>A (n.*215C>A) c.890C>A (p.Thr297Lys) c.1052C>A (p.Thr351Lys) | |
X | g.50086353C>G | CA413185066 | CLCN5 | c.1040C>G (p.Thr347Arg) c.290C>G (p.Thr97Arg) c.830C>G (p.Thr277Arg) c.1327C>G c.*215C>G (n.*215C>G) c.890C>G (p.Thr297Arg) c.1052C>G (p.Thr351Arg) | |
X | g.50086353C>T | CA413185065 | CLCN5 | c.1040C>T (p.Thr347Ile) c.290C>T (p.Thr97Ile) c.830C>T (p.Thr277Ile) c.1327C>T c.*215C>T (n.*215C>T) c.890C>T (p.Thr297Ile) c.1052C>T (p.Thr351Ile) | |
X | g.50086353_50086355dup | CA2695233678 | CLCN5 | c.1040_1042dup (p.Thr347_Leu348insSer) c.290_292dup (p.Thr97_Leu98insSer) c.830_832dup (p.Thr277_Leu278insSer) c.1327_1329dup c.*215_*217dup (n.*215_*217dup) c.890_892dup (p.Thr297_Leu298insSer) c.1052_1054dup (p.Thr351_Leu352insSer) | |
X | g.50086354A>C | CA516678005 | CLCN5 | c.1041A>C (p.Thr347=) c.291A>C (p.Thr97=) c.831A>C (p.Thr277=) c.1328A>C c.*216A>C (n.*216A>C) c.891A>C (p.Thr297=) c.1053A>C (p.Thr351=) | |
X | g.50086354A>G | CA516678007 | CLCN5 | c.1041A>G (p.Thr347=) c.291A>G (p.Thr97=) c.831A>G (p.Thr277=) c.1328A>G c.*216A>G (n.*216A>G) c.891A>G (p.Thr297=) c.1053A>G (p.Thr351=) | ClinVar gnomAD v4 |
X | g.50086354A>T | CA516678008 | CLCN5 | c.1041A>T (p.Thr347=) c.291A>T (p.Thr97=) c.831A>T (p.Thr277=) c.1328A>T c.*216A>T (n.*216A>T) c.891A>T (p.Thr297=) c.1053A>T (p.Thr351=) | |
X | g.50086355T>A | CA413185067 | CLCN5 | c.1042T>A (p.Leu348Met) c.292T>A (p.Leu98Met) c.832T>A (p.Leu278Met) c.1329T>A c.*217T>A (n.*217T>A) c.892T>A (p.Leu298Met) c.1054T>A (p.Leu352Met) | |
X | g.50086355T>C | CA516678012 | CLCN5 | c.1042T>C (p.Leu348=) c.292T>C (p.Leu98=) c.832T>C (p.Leu278=) c.1329T>C c.*217T>C (n.*217T>C) c.892T>C (p.Leu298=) c.1054T>C (p.Leu352=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.50086355T>G | CA413185068 | CLCN5 | c.1042T>G (p.Leu348Val) c.292T>G (p.Leu98Val) c.832T>G (p.Leu278Val) c.1329T>G c.*217T>G (n.*217T>G) c.892T>G (p.Leu298Val) c.1054T>G (p.Leu352Val) | |
X | g.50086355T= | CA2428768853 | CLCN5 | c.1042T= (p.Leu348=) c.292T= (p.Leu98=) c.832T= (p.Leu278=) c.1329T= c.*217T= (n.*217T=) c.892T= (p.Leu298=) c.1054T= (p.Leu352=) | |
X | g.50086356T>A | CA413185069 | CLCN5 | c.1043T>A (p.Leu348Ter) c.293T>A (p.Leu98Ter) c.833T>A (p.Leu278Ter) c.1330T>A c.*218T>A (n.*218T>A) c.893T>A (p.Leu298Ter) c.1055T>A (p.Leu352Ter) | ClinVar |
X | g.50086356T>C | CA413185070 | CLCN5 | c.1043T>C (p.Leu348Ser) c.293T>C (p.Leu98Ser) c.833T>C (p.Leu278Ser) c.1330T>C c.*218T>C (n.*218T>C) c.893T>C (p.Leu298Ser) c.1055T>C (p.Leu352Ser) | |
X | g.50086356T>G | CA413185071 | CLCN5 | c.1043T>G (p.Leu348Trp) c.293T>G (p.Leu98Trp) c.833T>G (p.Leu278Trp) c.1330T>G c.*218T>G (n.*218T>G) c.893T>G (p.Leu298Trp) c.1055T>G (p.Leu352Trp) | |
X | g.50086357G>A | CA516678014 | CLCN5 | c.1044G>A (p.Leu348=) c.294G>A (p.Leu98=) c.834G>A (p.Leu278=) c.1331G>A c.*219G>A (n.*219G>A) c.894G>A (p.Leu298=) c.1056G>A (p.Leu352=) | |
X | g.50086357G>C | CA343849 | CLCN5 | c.1044G>C (p.Leu348Phe) c.294G>C (p.Leu98Phe) c.834G>C (p.Leu278Phe) c.1331G>C c.*219G>C (n.*219G>C) c.894G>C (p.Leu298Phe) c.1056G>C (p.Leu352Phe) | ClinVar dbSNP |
X | g.50086357G= | CA2428768854 | CLCN5 | c.1044G= (p.Leu348=) c.294G= (p.Leu98=) c.834G= (p.Leu278=) c.1331G= c.*219G= (n.*219G=) c.894G= (p.Leu298=) c.1056G= (p.Leu352=) | |
X | g.50086357G>T | CA413185072 | CLCN5 | c.1044G>T (p.Leu348Phe) c.294G>T (p.Leu98Phe) c.834G>T (p.Leu278Phe) c.1331G>T c.*219G>T (n.*219G>T) c.894G>T (p.Leu298Phe) c.1056G>T (p.Leu352Phe) | gnomAD v4 |
X | g.50086358T>A | CA413185073 | CLCN5 | c.1045T>A (p.Trp349Arg) c.295T>A (p.Trp99Arg) c.835T>A (p.Trp279Arg) c.1332T>A c.*220T>A (n.*220T>A) c.895T>A (p.Trp299Arg) c.1057T>A (p.Trp353Arg) | |
X | g.50086358T>C | CA413185074 | CLCN5 | c.1045T>C (p.Trp349Arg) c.295T>C (p.Trp99Arg) c.835T>C (p.Trp279Arg) c.1332T>C c.*220T>C (n.*220T>C) c.895T>C (p.Trp299Arg) c.1057T>C (p.Trp353Arg) | |
X | g.50086358T>G | CA413185075 | CLCN5 | c.1045T>G (p.Trp349Gly) c.295T>G (p.Trp99Gly) c.835T>G (p.Trp279Gly) c.1332T>G c.*220T>G (n.*220T>G) c.895T>G (p.Trp299Gly) c.1057T>G (p.Trp353Gly) | |
X | g.50086359G>A | CA347315 | CLCN5 | c.1046G>A (p.Trp349Ter) c.296G>A (p.Trp99Ter) c.836G>A (p.Trp279Ter) c.1333G>A c.*221G>A (n.*221G>A) c.896G>A (p.Trp299Ter) c.1058G>A (p.Trp353Ter) | ClinVar dbSNP gnomAD v4 |
X | g.50086359G>C | CA413185077 | CLCN5 | c.1046G>C (p.Trp349Ser) c.296G>C (p.Trp99Ser) c.836G>C (p.Trp279Ser) c.1333G>C c.*221G>C (n.*221G>C) c.896G>C (p.Trp299Ser) c.1058G>C (p.Trp353Ser) | |
X | g.50086359G= | CA2428768855 | CLCN5 | c.1046G= (p.Trp349=) c.296G= (p.Trp99=) c.836G= (p.Trp279=) c.1333G= c.*221G= (n.*221G=) c.896G= (p.Trp299=) c.1058G= (p.Trp353=) | |
X | g.50086359G>T | CA413185076 | CLCN5 | c.1046G>T (p.Trp349Leu) c.296G>T (p.Trp99Leu) c.836G>T (p.Trp279Leu) c.1333G>T c.*221G>T (n.*221G>T) c.896G>T (p.Trp299Leu) c.1058G>T (p.Trp353Leu) | |
X | g.50086360G>A | CA121669 | CLCN5 | c.1047G>A (p.Trp349Ter) c.297G>A (p.Trp99Ter) c.837G>A (p.Trp279Ter) c.1334G>A c.*222G>A (n.*222G>A) c.897G>A (p.Trp299Ter) c.1059G>A (p.Trp353Ter) | ClinVar dbSNP |
X | g.50086360G>C | CA413185078 | CLCN5 | c.1047G>C (p.Trp349Cys) c.297G>C (p.Trp99Cys) c.837G>C (p.Trp279Cys) c.1334G>C c.*222G>C (n.*222G>C) c.897G>C (p.Trp299Cys) c.1059G>C (p.Trp353Cys) | |
X | g.50086360G= | CA2428768856 | CLCN5 | c.1047G= (p.Trp349=) c.297G= (p.Trp99=) c.837G= (p.Trp279=) c.1334G= c.*222G= (n.*222G=) c.897G= (p.Trp299=) c.1059G= (p.Trp353=) | |
X | g.50086360G>T | CA413185079 | CLCN5 | c.1047G>T (p.Trp349Cys) c.297G>T (p.Trp99Cys) c.837G>T (p.Trp279Cys) c.1334G>T c.*222G>T (n.*222G>T) c.897G>T (p.Trp299Cys) c.1059G>T (p.Trp353Cys) | |
X | g.50086361C>A | CA413185080 | CLCN5 | c.1048C>A (p.Arg350Ser) c.298C>A (p.Arg100Ser) c.838C>A (p.Arg280Ser) c.1335C>A c.*223C>A (n.*223C>A) c.898C>A (p.Arg300Ser) c.1060C>A (p.Arg354Ser) | |
X | g.50086361C>G | CA413185081 | CLCN5 | c.1048C>G (p.Arg350Gly) c.298C>G (p.Arg100Gly) c.838C>G (p.Arg280Gly) c.1335C>G c.*223C>G (n.*223C>G) c.898C>G (p.Arg300Gly) c.1060C>G (p.Arg354Gly) | |
X | g.50086361C>T | CA413185082 | CLCN5 | c.1048C>T (p.Arg350Cys) c.298C>T (p.Arg100Cys) c.838C>T (p.Arg280Cys) c.1335C>T c.*223C>T (n.*223C>T) c.898C>T (p.Arg300Cys) c.1060C>T (p.Arg354Cys) | gnomAD v4 COSMIC COSMIC |
X | g.50086362G>A | CA10413833 | CLCN5 | c.1049G>A (p.Arg350His) c.299G>A (p.Arg100His) c.839G>A (p.Arg280His) c.1336G>A c.*224G>A (n.*224G>A) c.899G>A (p.Arg300His) c.1061G>A (p.Arg354His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50086362G>C | CA121689 | CLCN5 | c.1049G>C (p.Arg350Pro) c.299G>C (p.Arg100Pro) c.839G>C (p.Arg280Pro) c.1336G>C c.*224G>C (n.*224G>C) c.899G>C (p.Arg300Pro) c.1061G>C (p.Arg354Pro) | ClinVar dbSNP |
X | g.50086362G= | CA2428768857 | CLCN5 | c.1049G= (p.Arg350=) c.299G= (p.Arg100=) c.839G= (p.Arg280=) c.1336G= c.*224G= (n.*224G=) c.899G= (p.Arg300=) c.1061G= (p.Arg354=) | |
X | g.50086362G>T | CA413185083 | CLCN5 | c.1049G>T (p.Arg350Leu) c.299G>T (p.Arg100Leu) c.839G>T (p.Arg280Leu) c.1336G>T c.*224G>T (n.*224G>T) c.899G>T (p.Arg300Leu) c.1061G>T (p.Arg354Leu) | |
X | g.50086363T>A | CA516678027 | CLCN5 | c.1050T>A (p.Arg350=) c.300T>A (p.Arg100=) c.840T>A (p.Arg280=) c.1337T>A c.*225T>A (n.*225T>A) c.900T>A (p.Arg300=) c.1062T>A (p.Arg354=) | |
X | g.50086363T>C | CA516678030 | CLCN5 | c.1050T>C (p.Arg350=) c.300T>C (p.Arg100=) c.840T>C (p.Arg280=) c.1337T>C c.*225T>C (n.*225T>C) c.900T>C (p.Arg300=) c.1062T>C (p.Arg354=) | |
X | g.50086363T>G | CA516678032 | CLCN5 | c.1050T>G (p.Arg350=) c.300T>G (p.Arg100=) c.840T>G (p.Arg280=) c.1337T>G c.*225T>G (n.*225T>G) c.900T>G (p.Arg300=) c.1062T>G (p.Arg354=) | |
X | g.50086364T>A | CA413185084 | CLCN5 | c.1051T>A (p.Ser351Thr) c.301T>A (p.Ser101Thr) c.841T>A (p.Ser281Thr) c.1338T>A c.*226T>A (n.*226T>A) c.901T>A (p.Ser301Thr) c.1063T>A (p.Ser355Thr) | |
X | g.50086364T>C | CA413185085 | CLCN5 | c.1051T>C (p.Ser351Pro) c.301T>C (p.Ser101Pro) c.841T>C (p.Ser281Pro) c.1338T>C c.*226T>C (n.*226T>C) c.901T>C (p.Ser301Pro) c.1063T>C (p.Ser355Pro) | |
X | g.50086364T>G | CA413185086 | CLCN5 | c.1051T>G (p.Ser351Ala) c.301T>G (p.Ser101Ala) c.841T>G (p.Ser281Ala) c.1338T>G c.*226T>G (n.*226T>G) c.901T>G (p.Ser301Ala) c.1063T>G (p.Ser355Ala) | |
X | g.50086365C>A | CA413185088 | CLCN5 | c.1052C>A (p.Ser351Ter) c.302C>A (p.Ser101Ter) c.842C>A (p.Ser281Ter) c.1339C>A c.*227C>A (n.*227C>A) c.902C>A (p.Ser301Ter) c.1064C>A (p.Ser355Ter) | |
X | g.50086365C>G | CA413185089 | CLCN5 | c.1052C>G (p.Ser351Ter) c.302C>G (p.Ser101Ter) c.842C>G (p.Ser281Ter) c.1339C>G c.*227C>G (n.*227C>G) c.902C>G (p.Ser301Ter) c.1064C>G (p.Ser355Ter) | |
X | g.50086365C>T | CA413185087 | CLCN5 | c.1052C>T (p.Ser351Leu) c.302C>T (p.Ser101Leu) c.842C>T (p.Ser281Leu) c.1339C>T c.*227C>T (n.*227C>T) c.902C>T (p.Ser301Leu) c.1064C>T (p.Ser355Leu) | |
X | g.50086366A>C | CA516678039 | CLCN5 | c.1053A>C (p.Ser351=) c.303A>C (p.Ser101=) c.843A>C (p.Ser281=) c.1340A>C c.*228A>C (n.*228A>C) c.903A>C (p.Ser301=) c.1065A>C (p.Ser355=) | |
X | g.50086366A>G | CA516678040 | CLCN5 | c.1053A>G (p.Ser351=) c.303A>G (p.Ser101=) c.843A>G (p.Ser281=) c.1340A>G c.*228A>G (n.*228A>G) c.903A>G (p.Ser301=) c.1065A>G (p.Ser355=) | |
X | g.50086366A>T | CA516678041 | CLCN5 | c.1053A>T (p.Ser351=) c.303A>T (p.Ser101=) c.843A>T (p.Ser281=) c.1340A>T c.*228A>T (n.*228A>T) c.903A>T (p.Ser301=) c.1065A>T (p.Ser355=) | |
X | g.50086367T>A | CA413185090 | CLCN5 | c.1054T>A (p.Phe352Ile) c.304T>A (p.Phe102Ile) c.844T>A (p.Phe282Ile) c.1341T>A c.*229T>A (n.*229T>A) c.904T>A (p.Phe302Ile) c.1066T>A (p.Phe356Ile) | |
X | g.50086367T>C | CA413185091 | CLCN5 | c.1054T>C (p.Phe352Leu) c.304T>C (p.Phe102Leu) c.844T>C (p.Phe282Leu) c.1341T>C c.*229T>C (n.*229T>C) c.904T>C (p.Phe302Leu) c.1066T>C (p.Phe356Leu) | |
X | g.50086367T>G | CA413185092 | CLCN5 | c.1054T>G (p.Phe352Val) c.304T>G (p.Phe102Val) c.844T>G (p.Phe282Val) c.1341T>G c.*229T>G (n.*229T>G) c.904T>G (p.Phe302Val) c.1066T>G (p.Phe356Val) | |
X | g.50086368T>A | CA413185093 | CLCN5 | c.1055T>A (p.Phe352Tyr) c.305T>A (p.Phe102Tyr) c.845T>A (p.Phe282Tyr) c.1342T>A c.*230T>A (n.*230T>A) c.905T>A (p.Phe302Tyr) c.1067T>A (p.Phe356Tyr) | |
X | g.50086368T>C | CA413185094 | CLCN5 | c.1055T>C (p.Phe352Ser) c.305T>C (p.Phe102Ser) c.845T>C (p.Phe282Ser) c.1342T>C c.*230T>C (n.*230T>C) c.905T>C (p.Phe302Ser) c.1067T>C (p.Phe356Ser) | |
X | g.50086368T>G | CA413185095 | CLCN5 | c.1055T>G (p.Phe352Cys) c.305T>G (p.Phe102Cys) c.845T>G (p.Phe282Cys) c.1342T>G c.*230T>G (n.*230T>G) c.905T>G (p.Phe302Cys) c.1067T>G (p.Phe356Cys) | |
X | g.50086369C>A | CA413185096 | CLCN5 | c.1056C>A (p.Phe352Leu) c.306C>A (p.Phe102Leu) c.846C>A (p.Phe282Leu) c.1343C>A c.*231C>A (n.*231C>A) c.906C>A (p.Phe302Leu) c.1068C>A (p.Phe356Leu) | |
X | g.50086369C>G | CA413185097 | CLCN5 | c.1056C>G (p.Phe352Leu) c.306C>G (p.Phe102Leu) c.846C>G (p.Phe282Leu) c.1343C>G c.*231C>G (n.*231C>G) c.906C>G (p.Phe302Leu) c.1068C>G (p.Phe356Leu) | |
X | g.50086369C>T | CA516678044 | CLCN5 | c.1056C>T (p.Phe352=) c.306C>T (p.Phe102=) c.846C>T (p.Phe282=) c.1343C>T c.*231C>T (n.*231C>T) c.906C>T (p.Phe302=) c.1068C>T (p.Phe356=) | gnomAD v4 |
X | g.50086370T>A | CA413185098 | CLCN5 | c.1057T>A (p.Phe353Ile) c.307T>A (p.Phe103Ile) c.847T>A (p.Phe283Ile) c.1344T>A c.*232T>A (n.*232T>A) c.907T>A (p.Phe303Ile) c.1069T>A (p.Phe357Ile) | |
X | g.50086370T>C | CA413185099 | CLCN5 | c.1057T>C (p.Phe353Leu) c.307T>C (p.Phe103Leu) c.847T>C (p.Phe283Leu) c.1344T>C c.*232T>C (n.*232T>C) c.907T>C (p.Phe303Leu) c.1069T>C (p.Phe357Leu) | |
X | g.50086370T>G | CA413185100 | CLCN5 | c.1057T>G (p.Phe353Val) c.307T>G (p.Phe103Val) c.847T>G (p.Phe283Val) c.1344T>G c.*232T>G (n.*232T>G) c.907T>G (p.Phe303Val) c.1069T>G (p.Phe357Val) | |
X | g.50086371T>A | CA413185101 | CLCN5 | c.1058T>A (p.Phe353Tyr) c.308T>A (p.Phe103Tyr) c.848T>A (p.Phe283Tyr) c.1345T>A c.*233T>A (n.*233T>A) c.908T>A (p.Phe303Tyr) c.1070T>A (p.Phe357Tyr) | |
X | g.50086371T>C | CA413185102 | CLCN5 | c.1058T>C (p.Phe353Ser) c.308T>C (p.Phe103Ser) c.848T>C (p.Phe283Ser) c.1345T>C c.*233T>C (n.*233T>C) c.908T>C (p.Phe303Ser) c.1070T>C (p.Phe357Ser) | |
X | g.50086371T>G | CA413185103 | CLCN5 | c.1058T>G (p.Phe353Cys) c.308T>G (p.Phe103Cys) c.848T>G (p.Phe283Cys) c.1345T>G c.*233T>G (n.*233T>G) c.908T>G (p.Phe303Cys) c.1070T>G (p.Phe357Cys) | |
X | g.50086372T>A | CA413185104 | CLCN5 | c.1059T>A (p.Phe353Leu) c.309T>A (p.Phe103Leu) c.849T>A (p.Phe283Leu) c.1346T>A c.*234T>A (n.*234T>A) c.909T>A (p.Phe303Leu) c.1071T>A (p.Phe357Leu) | |
X | g.50086372T>C | CA516678051 | CLCN5 | c.1059T>C (p.Phe353=) c.309T>C (p.Phe103=) c.849T>C (p.Phe283=) c.1346T>C c.*234T>C (n.*234T>C) c.909T>C (p.Phe303=) c.1071T>C (p.Phe357=) | |
X | g.50086372T>G | CA413185105 | CLCN5 | c.1059T>G (p.Phe353Leu) c.309T>G (p.Phe103Leu) c.849T>G (p.Phe283Leu) c.1346T>G c.*234T>G (n.*234T>G) c.909T>G (p.Phe303Leu) c.1071T>G (p.Phe357Leu) | |
X | g.50086373G>A | CA413185106 | CLCN5 | c.1060G>A (p.Ala354Thr) c.310G>A (p.Ala104Thr) c.850G>A (p.Ala284Thr) c.1347G>A c.*235G>A (n.*235G>A) c.910G>A (p.Ala304Thr) c.1072G>A (p.Ala358Thr) | |
X | g.50086373G>C | CA413185107 | CLCN5 | c.1060G>C (p.Ala354Pro) c.310G>C (p.Ala104Pro) c.850G>C (p.Ala284Pro) c.1347G>C c.*235G>C (n.*235G>C) c.910G>C (p.Ala304Pro) c.1072G>C (p.Ala358Pro) | |
X | g.50086373G>T | CA413185108 | CLCN5 | c.1060G>T (p.Ala354Ser) c.310G>T (p.Ala104Ser) c.850G>T (p.Ala284Ser) c.1347G>T c.*235G>T (n.*235G>T) c.910G>T (p.Ala304Ser) c.1072G>T (p.Ala358Ser) | |
X | g.50086374C>A | CA413185109 | CLCN5 | c.1061C>A (p.Ala354Asp) c.311C>A (p.Ala104Asp) c.851C>A (p.Ala284Asp) c.1348C>A c.*236C>A (n.*236C>A) c.911C>A (p.Ala304Asp) c.1073C>A (p.Ala358Asp) | |
X | g.50086374C= | CA2428768858 | CLCN5 | c.1061C= (p.Ala354=) c.311C= (p.Ala104=) c.851C= (p.Ala284=) c.1348C= c.*236C= (n.*236C=) c.911C= (p.Ala304=) c.1073C= (p.Ala358=) | |
X | g.50086374C>G | CA413185110 | CLCN5 | c.1061C>G (p.Ala354Gly) c.311C>G (p.Ala104Gly) c.851C>G (p.Ala284Gly) c.1348C>G c.*236C>G (n.*236C>G) c.911C>G (p.Ala304Gly) c.1073C>G (p.Ala358Gly) | |
X | g.50086374C>T | CA16609466 | CLCN5 | c.1061C>T (p.Ala354Val) c.311C>T (p.Ala104Val) c.851C>T (p.Ala284Val) c.1348C>T c.*236C>T (n.*236C>T) c.911C>T (p.Ala304Val) c.1073C>T (p.Ala358Val) | ClinVar dbSNP gnomAD v4 |