Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.50086287G>ACA2428768830CLCN5c.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
Xg.50086287G=CA2428768829CLCN5c.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=)
Xg.50086288C>ACA2579610731CLCN5c.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
Xg.50086288C=CA2428768831CLCN5c.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=)
Xg.50086288C>TCA10413827CLCN5c.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
Xg.50086289G>ACA641791810CLCN5c.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
Xg.50086289G=CA2428768832CLCN5c.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=)
Xg.50086293T>GCA641791812CLCN5c.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
Xg.50086293T=CA2428768833CLCN5c.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=)
Xg.50086294G>ACA2693737092CLCN5c.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
Xg.50086294G>TCA2693737093CLCN5c.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
Xg.50086295A=CA2428768834CLCN5c.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=)
Xg.50086295A>GCA641791813CLCN5c.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
Xg.50086295A>TCA2579610732CLCN5c.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)
Xg.50086296C>ACA641791814CLCN5c.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
Xg.50086296C=CA2428768835CLCN5c.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=)
Xg.50086297T>CCA2693737094CLCN5c.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
Xg.50086298G>TCA2693737095CLCN5c.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
Xg.50086300G>ACA2693737096CLCN5c.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
Xg.50086300G>TCA2693737097CLCN5c.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
Xg.50086305C>ACA2693737098CLCN5c.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
Xg.50086305C=CA2428768836CLCN5c.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=)
Xg.50086305C>TCA10413828CLCN5c.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
Xg.50086306T>CCA10413829CLCN5c.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
Xg.50086306T=CA2428768837CLCN5c.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=)
Xg.50086309C=CA2428768838CLCN5c.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=)
Xg.50086309C>TCA10413830CLCN5c.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
Xg.50086311C>ACA641791819CLCN5c.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
Xg.50086311C=CA2428768839CLCN5c.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=)
Xg.50086312A=CA2428768840CLCN5c.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=)
Xg.50086312A>GCA876003562CLCN5c.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
Xg.50086313C>ACA2693737099CLCN5c.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
Xg.50086314C>GCA2693737100CLCN5c.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
Xg.50086314C>TCA658082090CLCN5c.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
Xg.50086315T>CCA641791820CLCN5c.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
Xg.50086315T=CA2428768841CLCN5c.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=)
Xg.50086320_50086323delCA2693737101CLCN5c.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
Xg.50086317C>TCA2693737102CLCN5c.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
Xg.50086318T>CCA10413831CLCN5c.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
Xg.50086318T=CA2428768842CLCN5c.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=)
Xg.50086321C=CA2428768843CLCN5c.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=)
Xg.50086321C>GCA641791822CLCN5c.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
Xg.50086323T>GCA2428768845CLCN5c.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
Xg.50086323T=CA2428768844CLCN5c.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=)
Xg.50086324C=CA2428768846CLCN5c.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=)
Xg.50086324C>GCA10413832CLCN5c.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
Xg.50086324C>TCA2693737103CLCN5c.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
Xg.50086325T>CCA2428768848CLCN5c.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
Xg.50086325T=CA2428768847CLCN5c.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=)
Xg.50086326A>CCA413185001CLCN5c.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
Xg.50086326A>GCA413185000CLCN5c.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)
Xg.50086326A>TCA413184999CLCN5c.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)
Xg.50086327G>ACA413185002CLCN5c.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
Xg.50086327G>CCA413185003CLCN5c.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)
Xg.50086327G>TCA413185004CLCN5c.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
Xg.50086328G>ACA329782440CLCN5c.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
Xg.50086328G>CCA413185005CLCN5c.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)
Xg.50086328G=CA2428768849CLCN5c.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=)
Xg.50086328G>TCA413185006CLCN5c.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)
Xg.50086329T>ACA413185007CLCN5c.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)
Xg.50086329T>CCA413185008CLCN5c.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)
Xg.50086329T>GCA413185009CLCN5c.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)
Xg.50086330C>ACA516470755CLCN5c.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
Xg.50086330C>GCA516470756CLCN5c.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
Xg.50086330C>TCA516470757CLCN5c.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=)
Xg.50086331A>CCA413185010CLCN5c.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)
Xg.50086331A>GCA413185011CLCN5c.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
Xg.50086331A>TCA413185012CLCN5c.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)
Xg.50086332G>ACA413185014CLCN5c.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
Xg.50086332G>CCA413185015CLCN5c.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)
Xg.50086332G>TCA413185013CLCN5c.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)
Xg.50086333C>ACA413185016CLCN5c.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)
Xg.50086333C>GCA413185017CLCN5c.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)
Xg.50086333C>TCA516470758CLCN5c.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=)
Xg.50086334T>ACA413185018CLCN5c.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)
Xg.50086334T>CCA413185019CLCN5c.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)
Xg.50086334T>GCA413185020CLCN5c.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)
Xg.50086335A>CCA413185021CLCN5c.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)
Xg.50086335A>GCA413185022CLCN5c.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)
Xg.50086335A>TCA413185023CLCN5c.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)
Xg.50086336C>ACA413185024CLCN5c.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)
Xg.50086336C>GCA413185025CLCN5c.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)
Xg.50086336C>TCA516470759CLCN5c.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
Xg.50086337T>ACA413185026CLCN5c.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)
Xg.50086337T>CCA413185027CLCN5c.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)
Xg.50086337T>GCA413185028CLCN5c.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)
Xg.50086338A=CA2428768850CLCN5c.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=)
Xg.50086338A>CCA413185030CLCN5c.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)
Xg.50086338A>GCA343847CLCN5c.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
Xg.50086338A>TCA413185029CLCN5c.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)
Xg.50086339T>ACA413185031CLCN5c.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)
Xg.50086339T>CCA516470760CLCN5c.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=)
Xg.50086339T>GCA413185032CLCN5c.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)
Xg.50086342dupCA329782441CLCN5c.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
Xg.50086342delCA645611538CLCN5c.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
Xg.50086340T>ACA413185033CLCN5c.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)
Xg.50086340T>CCA413185034CLCN5c.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
Xg.50086340T>GCA413185035CLCN5c.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)
Xg.50086341T>ACA413185036CLCN5c.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)
Xg.50086341T>CCA413185037CLCN5c.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)
Xg.50086341T>GCA413185038CLCN5c.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)
Xg.50086342T>ACA413185039CLCN5c.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)
Xg.50086342T>CCA516470761CLCN5c.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=)
Xg.50086342T>GCA413185040CLCN5c.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)
Xg.50086343C>ACA413185041CLCN5c.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
Xg.50086343C=CA2428768851CLCN5c.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=)
Xg.50086343C>GCA413185042CLCN5c.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
Xg.50086343C>TCA413185043CLCN5c.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)
Xg.50086346dupCA645611539CLCN5c.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
Xg.50086344C>ACA413185045CLCN5c.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)
Xg.50086344C>GCA413185046CLCN5c.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)
Xg.50086344C>TCA413185044CLCN5c.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)
Xg.50086345C>ACA516470764CLCN5c.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=)
Xg.50086345C=CA2428768852CLCN5c.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=)
Xg.50086345C>GCA516470763CLCN5c.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
Xg.50086345C>TCA516470762CLCN5c.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=)
Xg.50086346C>ACA413185048CLCN5c.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)
Xg.50086346C>GCA413185047CLCN5c.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)
Xg.50086346C>TCA413185049CLCN5c.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
Xg.50086347T>ACA413185050CLCN5c.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)
Xg.50086347T>CCA413185051CLCN5c.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)
Xg.50086347T>GCA413185052CLCN5c.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)
Xg.50086348C>ACA516470765CLCN5c.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=)
Xg.50086348C>GCA516470767CLCN5c.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=)
Xg.50086348C>TCA516470766CLCN5c.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=)
Xg.50086349A>CCA413185053CLCN5c.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)
Xg.50086349A>GCA413185054CLCN5c.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)
Xg.50086349A>TCA413185055CLCN5c.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)
Xg.50086350A>CCA413185058CLCN5c.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)
Xg.50086350A>GCA413185056CLCN5c.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)
Xg.50086350A>TCA413185057CLCN5c.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)
Xg.50086351A>CCA413185059CLCN5c.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)
Xg.50086351A>GCA516677995CLCN5c.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=)
Xg.50086351A>TCA413185060CLCN5c.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)
Xg.50086352A>CCA413185061CLCN5c.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)
Xg.50086352A>GCA413185062CLCN5c.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)
Xg.50086352A>TCA413185063CLCN5c.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)
Xg.50086353C>ACA413185064CLCN5c.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)
Xg.50086353C>GCA413185066CLCN5c.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)
Xg.50086353C>TCA413185065CLCN5c.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)
Xg.50086353_50086355dupCA2695233678CLCN5c.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)
Xg.50086354A>CCA516678005CLCN5c.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=)
Xg.50086354A>GCA516678007CLCN5c.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
Xg.50086354A>TCA516678008CLCN5c.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=)
Xg.50086355T>ACA413185067CLCN5c.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)
Xg.50086355T>CCA516678012CLCN5c.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
Xg.50086355T>GCA413185068CLCN5c.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)
Xg.50086355T=CA2428768853CLCN5c.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=)
Xg.50086356T>ACA413185069CLCN5c.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
Xg.50086356T>CCA413185070CLCN5c.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)
Xg.50086356T>GCA413185071CLCN5c.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)
Xg.50086357G>ACA516678014CLCN5c.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=)
Xg.50086357G>CCA343849CLCN5c.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
Xg.50086357G=CA2428768854CLCN5c.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=)
Xg.50086357G>TCA413185072CLCN5c.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
Xg.50086358T>ACA413185073CLCN5c.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)
Xg.50086358T>CCA413185074CLCN5c.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)
Xg.50086358T>GCA413185075CLCN5c.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)
Xg.50086359G>ACA347315CLCN5c.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
Xg.50086359G>CCA413185077CLCN5c.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)
Xg.50086359G=CA2428768855CLCN5c.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=)
Xg.50086359G>TCA413185076CLCN5c.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)
Xg.50086360G>ACA121669CLCN5c.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
Xg.50086360G>CCA413185078CLCN5c.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)
Xg.50086360G=CA2428768856CLCN5c.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=)
Xg.50086360G>TCA413185079CLCN5c.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)
Xg.50086361C>ACA413185080CLCN5c.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)
Xg.50086361C>GCA413185081CLCN5c.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)
Xg.50086361C>TCA413185082CLCN5c.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
Xg.50086362G>ACA10413833CLCN5c.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
Xg.50086362G>CCA121689CLCN5c.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
Xg.50086362G=CA2428768857CLCN5c.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=)
Xg.50086362G>TCA413185083CLCN5c.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)
Xg.50086363T>ACA516678027CLCN5c.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=)
Xg.50086363T>CCA516678030CLCN5c.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=)
Xg.50086363T>GCA516678032CLCN5c.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=)
Xg.50086364T>ACA413185084CLCN5c.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)
Xg.50086364T>CCA413185085CLCN5c.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)
Xg.50086364T>GCA413185086CLCN5c.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)
Xg.50086365C>ACA413185088CLCN5c.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)
Xg.50086365C>GCA413185089CLCN5c.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)
Xg.50086365C>TCA413185087CLCN5c.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)
Xg.50086366A>CCA516678039CLCN5c.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=)
Xg.50086366A>GCA516678040CLCN5c.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=)
Xg.50086366A>TCA516678041CLCN5c.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=)
Xg.50086367T>ACA413185090CLCN5c.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)
Xg.50086367T>CCA413185091CLCN5c.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)
Xg.50086367T>GCA413185092CLCN5c.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)
Xg.50086368T>ACA413185093CLCN5c.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)
Xg.50086368T>CCA413185094CLCN5c.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)
Xg.50086368T>GCA413185095CLCN5c.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)
Xg.50086369C>ACA413185096CLCN5c.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)
Xg.50086369C>GCA413185097CLCN5c.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)
Xg.50086369C>TCA516678044CLCN5c.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
Xg.50086370T>ACA413185098CLCN5c.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)
Xg.50086370T>CCA413185099CLCN5c.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)
Xg.50086370T>GCA413185100CLCN5c.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)
Xg.50086371T>ACA413185101CLCN5c.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)
Xg.50086371T>CCA413185102CLCN5c.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)
Xg.50086371T>GCA413185103CLCN5c.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)
Xg.50086372T>ACA413185104CLCN5c.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)
Xg.50086372T>CCA516678051CLCN5c.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=)
Xg.50086372T>GCA413185105CLCN5c.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)
Xg.50086373G>ACA413185106CLCN5c.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)
Xg.50086373G>CCA413185107CLCN5c.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)
Xg.50086373G>TCA413185108CLCN5c.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)
Xg.50086374C>ACA413185109CLCN5c.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)
Xg.50086374C=CA2428768858CLCN5c.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=)
Xg.50086374C>GCA413185110CLCN5c.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)
Xg.50086374C>TCA16609466CLCN5c.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
Xg.50086375T>ACA516678053CLCN5c.1062T>A (p.Ala354=)
c.312T>A (p.Ala104=)
c.852T>A (p.Ala284=)
c.1349T>A
c.*237T>A (n.*237T>A)
c.912T>A (p.Ala304=)
c.1074T>A (p.Ala358=)
Xg.50086375T>CCA516678055CLCN5c.1062T>C (p.Ala354=)
c.312T>C (p.Ala104=)
c.852T>C (p.Ala284=)
c.1349T>C
c.*237T>C (n.*237T>C)
c.912T>C (p.Ala304=)
c.1074T>C (p.Ala358=)
Xg.50086375T>GCA516678054CLCN5c.1062T>G (p.Ala354=)
c.312T>G (p.Ala104=)
c.852T>G (p.Ala284=)
c.1349T>G
c.*237T>G (n.*237T>G)
c.912T>G (p.Ala304=)
c.1074T>G (p.Ala358=)
Xg.50086376G>ACA413185111CLCN5c.1063G>A (p.Ala355Thr)
c.313G>A (p.Ala105Thr)
c.853G>A (p.Ala285Thr)
c.1350G>A
c.*238G>A (n.*238G>A)
c.913G>A (p.Ala305Thr)
c.1075G>A (p.Ala359Thr)
Xg.50086376G>CCA413185112CLCN5c.1063G>C (p.Ala355Pro)
c.313G>C (p.Ala105Pro)
c.853G>C (p.Ala285Pro)
c.1350G>C
c.*238G>C (n.*238G>C)
c.913G>C (p.Ala305Pro)
c.1075G>C (p.Ala359Pro)
Xg.50086376G>TCA413185113CLCN5c.1063G>T (p.Ala355Ser)
c.313G>T (p.Ala105Ser)
c.853G>T (p.Ala285Ser)
c.1350G>T
c.*238G>T (n.*238G>T)
c.913G>T (p.Ala305Ser)
c.1075G>T (p.Ala359Ser)
Xg.50086377C>ACA413185114CLCN5c.1064C>A (p.Ala355Asp)
c.314C>A (p.Ala105Asp)
c.854C>A (p.Ala285Asp)
c.1351C>A
c.*239C>A (n.*239C>A)
c.914C>A (p.Ala305Asp)
c.1076C>A (p.Ala359Asp)
Xg.50086377C>GCA413185115CLCN5c.1064C>G (p.Ala355Gly)
c.314C>G (p.Ala105Gly)
c.854C>G (p.Ala285Gly)
c.1351C>G
c.*239C>G (n.*239C>G)
c.914C>G (p.Ala305Gly)
c.1076C>G (p.Ala359Gly)
Xg.50086377C>TCA413185116CLCN5c.1064C>T (p.Ala355Val)
c.314C>T (p.Ala105Val)
c.854C>T (p.Ala285Val)
c.1351C>T
c.*239C>T (n.*239C>T)
c.914C>T (p.Ala305Val)
c.1076C>T (p.Ala359Val)
Xg.50086378C>ACA516678057CLCN5c.1065C>A (p.Ala355=)
c.315C>A (p.Ala105=)
c.855C>A (p.Ala285=)
c.1352C>A
c.*240C>A (n.*240C>A)
c.915C>A (p.Ala305=)
c.1077C>A (p.Ala359=)
Xg.50086378C>GCA516678058CLCN5c.1065C>G (p.Ala355=)
c.315C>G (p.Ala105=)
c.855C>G (p.Ala285=)
c.1352C>G
c.*240C>G (n.*240C>G)
c.915C>G (p.Ala305=)
c.1077C>G (p.Ala359=)
Xg.50086378C>TCA516678059CLCN5c.1065C>T (p.Ala355=)
c.315C>T (p.Ala105=)
c.855C>T (p.Ala285=)
c.1352C>T
c.*240C>T (n.*240C>T)
c.915C>T (p.Ala305=)
c.1077C>T (p.Ala359=)
gnomAD v4
Xg.50086379T>ACA413185117CLCN5c.1066T>A (p.Leu356Met)
c.316T>A (p.Leu106Met)
c.856T>A (p.Leu286Met)
c.1353T>A
c.*241T>A (n.*241T>A)
c.916T>A (p.Leu306Met)
c.1078T>A (p.Leu360Met)
Xg.50086379T>CCA516678063CLCN5c.1066T>C (p.Leu356=)
c.316T>C (p.Leu106=)
c.856T>C (p.Leu286=)
c.1353T>C
c.*241T>C (n.*241T>C)
c.916T>C (p.Leu306=)
c.1078T>C (p.Leu360=)
Xg.50086379T>GCA413185118CLCN5c.1066T>G (p.Leu356Val)
c.316T>G (p.Leu106Val)
c.856T>G (p.Leu286Val)
c.1353T>G
c.*241T>G (n.*241T>G)
c.916T>G (p.Leu306Val)
c.1078T>G (p.Leu360Val)
Xg.50086380T>ACA413185121CLCN5c.1067T>A (p.Leu356Ter)
c.317T>A (p.Leu106Ter)
c.857T>A (p.Leu286Ter)
c.1354T>A
c.*242T>A (n.*242T>A)
c.917T>A (p.Leu306Ter)
c.1079T>A (p.Leu360Ter)
Xg.50086380T>CCA413185120CLCN5c.1067T>C (p.Leu356Ser)
c.317T>C (p.Leu106Ser)
c.857T>C (p.Leu286Ser)
c.1354T>C
c.*242T>C (n.*242T>C)
c.917T>C (p.Leu306Ser)
c.1079T>C (p.Leu360Ser)
Xg.50086380T>GCA413185119CLCN5c.1067T>G (p.Leu356Trp)
c.317T>G (p.Leu106Trp)
c.857T>G (p.Leu286Trp)
c.1354T>G
c.*242T>G (n.*242T>G)
c.917T>G (p.Leu306Trp)
c.1079T>G (p.Leu360Trp)
Xg.50086381G>ACA516678068CLCN5c.1068G>A (p.Leu356=)
c.318G>A (p.Leu106=)
c.858G>A (p.Leu286=)
c.1355G>A
c.*243G>A (n.*243G>A)
c.918G>A (p.Leu306=)
c.1080G>A (p.Leu360=)
Xg.50086381G>CCA413185122CLCN5c.1068G>C (p.Leu356Phe)
c.318G>C (p.Leu106Phe)
c.858G>C (p.Leu286Phe)
c.1355G>C
c.*243G>C (n.*243G>C)
c.918G>C (p.Leu306Phe)
c.1080G>C (p.Leu360Phe)
Xg.50086381G>TCA413185123CLCN5c.1068G>T (p.Leu356Phe)
c.318G>T (p.Leu106Phe)
c.858G>T (p.Leu286Phe)
c.1355G>T
c.*243G>T (n.*243G>T)
c.918G>T (p.Leu306Phe)
c.1080G>T (p.Leu360Phe)
Xg.50086382G>ACA413185124CLCN5c.1069G>A (p.Val357Met)
c.319G>A (p.Val107Met)
c.859G>A (p.Val287Met)
c.1356G>A
c.*244G>A (n.*244G>A)
c.919G>A (p.Val307Met)
c.1081G>A (p.Val361Met)
Xg.50086382G>CCA413185125CLCN5c.1069G>C (p.Val357Leu)
c.319G>C (p.Val107Leu)
c.859G>C (p.Val287Leu)
c.1356G>C
c.*244G>C (n.*244G>C)
c.919G>C (p.Val307Leu)
c.1081G>C (p.Val361Leu)
Xg.50086382G>TCA413185126CLCN5c.1069G>T (p.Val357Leu)
c.319G>T (p.Val107Leu)
c.859G>T (p.Val287Leu)
c.1356G>T
c.*244G>T (n.*244G>T)
c.919G>T (p.Val307Leu)
c.1081G>T (p.Val361Leu)
Xg.50086383T>ACA413185127CLCN5c.1070T>A (p.Val357Glu)
c.320T>A (p.Val107Glu)
c.860T>A (p.Val287Glu)
c.1357T>A
c.*245T>A (n.*245T>A)
c.920T>A (p.Val307Glu)
c.1082T>A (p.Val361Glu)
Xg.50086383T>CCA413185128CLCN5c.1070T>C (p.Val357Ala)
c.320T>C (p.Val107Ala)
c.860T>C (p.Val287Ala)
c.1357T>C
c.*245T>C (n.*245T>C)
c.920T>C (p.Val307Ala)
c.1082T>C (p.Val361Ala)
dbSNP gnomAD v2 gnomAD v4
Xg.50086383T>GCA413185129CLCN5c.1070T>G (p.Val357Gly)
c.320T>G (p.Val107Gly)
c.860T>G (p.Val287Gly)
c.1357T>G
c.*245T>G (n.*245T>G)
c.920T>G (p.Val307Gly)
c.1082T>G (p.Val361Gly)
Xg.50086383T=CA2428768859CLCN5c.1070T= (p.Val357=)
c.320T= (p.Val107=)
c.860T= (p.Val287=)
c.1357T=
c.*245T= (n.*245T=)
c.920T= (p.Val307=)
c.1082T= (p.Val361=)
Xg.50086384G>ACA516678070CLCN5c.1071G>A (p.Val357=)
c.321G>A (p.Val107=)
c.861G>A (p.Val287=)
c.1358G>A
c.*246G>A (n.*246G>A)
c.921G>A (p.Val307=)
c.1083G>A (p.Val361=)
Xg.50086384G>CCA516678071CLCN5c.1071G>C (p.Val357=)
c.321G>C (p.Val107=)
c.861G>C (p.Val287=)
c.1358G>C
c.*246G>C (n.*246G>C)
c.921G>C (p.Val307=)
c.1083G>C (p.Val361=)
Xg.50086384G>TCA516678072CLCN5c.1071G>T (p.Val357=)
c.321G>T (p.Val107=)
c.861G>T (p.Val287=)
c.1358G>T
c.*246G>T (n.*246G>T)
c.921G>T (p.Val307=)
c.1083G>T (p.Val361=)
Xg.50086385G>ACA413185130CLCN5c.1072G>A (p.Ala358Thr)
c.322G>A (p.Ala108Thr)
c.862G>A (p.Ala288Thr)
c.1359G>A
c.*247G>A (n.*247G>A)
c.922G>A (p.Ala308Thr)
c.1084G>A (p.Ala362Thr)
Xg.50086385G>CCA413185131CLCN5c.1072G>C (p.Ala358Pro)
c.322G>C (p.Ala108Pro)
c.862G>C (p.Ala288Pro)
c.1359G>C
c.*247G>C (n.*247G>C)
c.922G>C (p.Ala308Pro)
c.1084G>C (p.Ala362Pro)
Xg.50086385G>TCA413185132CLCN5c.1072G>T (p.Ala358Ser)
c.322G>T (p.Ala108Ser)
c.862G>T (p.Ala288Ser)
c.1359G>T
c.*247G>T (n.*247G>T)
c.922G>T (p.Ala308Ser)
c.1084G>T (p.Ala362Ser)
gnomAD v4
Xg.50086386C>ACA413185133CLCN5c.1073C>A (p.Ala358Glu)
c.323C>A (p.Ala108Glu)
c.863C>A (p.Ala288Glu)
c.1360C>A
c.*248C>A (n.*248C>A)
c.923C>A (p.Ala308Glu)
c.1085C>A (p.Ala362Glu)
Xg.50086386C>GCA413185134CLCN5c.1073C>G (p.Ala358Gly)
c.323C>G (p.Ala108Gly)
c.863C>G (p.Ala288Gly)
c.1360C>G
c.*248C>G (n.*248C>G)
c.923C>G (p.Ala308Gly)
c.1085C>G (p.Ala362Gly)
Xg.50086386C>TCA413185135CLCN5c.1073C>T (p.Ala358Val)
c.323C>T (p.Ala108Val)
c.863C>T (p.Ala288Val)
c.1360C>T
c.*248C>T (n.*248C>T)
c.923C>T (p.Ala308Val)
c.1085C>T (p.Ala362Val)

Number of alleles fetched