Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.23082163T>CCA327608122PTCHD1-ASn.260-18042A>G
dbSNP
Xg.23082163T=CA2419527113PTCHD1-ASn.260-18042A=
Xg.23082168G>ACA2419527115PTCHD1-ASn.260-18047C>T
dbSNP
Xg.23082168G=CA2419527114PTCHD1-ASn.260-18047C=
Xg.23082168G>TCA2419527116PTCHD1-ASn.260-18047C>A
dbSNP
Xg.23082170T>ACA2419527118PTCHD1-ASn.260-18049A>T
dbSNP
Xg.23082170T=CA2419527117PTCHD1-ASn.260-18049A=
Xg.23082171A=CA2419527119PTCHD1-ASn.260-18050T=
Xg.23082171A>TCA874020008PTCHD1-ASn.260-18050T>A
dbSNP
Xg.23082173A=CA2419527120PTCHD1-ASn.260-18052T=
Xg.23082173A>GCA1131620204PTCHD1-ASn.260-18052T>C
dbSNP gnomAD v3 gnomAD v4
Xg.23082174T>CCA2419527122PTCHD1-ASn.260-18053A>G
dbSNP
Xg.23082174T=CA2419527121PTCHD1-ASn.260-18053A=
Xg.23082182A=CA2419527123PTCHD1-ASn.260-18061T=
Xg.23082182A>GCA327608123PTCHD1-ASn.260-18061T>C
dbSNP gnomAD v3 gnomAD v4
Xg.23082182A>TCA2419527124PTCHD1-ASn.260-18061T>A
dbSNP
Xg.23082183T>ACA2517110279PTCHD1-ASn.260-18062A>T
Xg.23082185T>CCA1131620209PTCHD1-ASn.260-18064A>G
Xg.23082191A=CA2419527125PTCHD1-ASn.260-18070T=
Xg.23082191A>CCA2419527126PTCHD1-ASn.260-18070T>G
dbSNP
Xg.23082191A>GCA874020011PTCHD1-ASn.260-18070T>C
dbSNP
Xg.23082193T>CCA327608124PTCHD1-ASn.260-18072A>G
dbSNP gnomAD v3 gnomAD v4
Xg.23082193T=CA2419527127PTCHD1-ASn.260-18072A=
Xg.23082197G>ACA1131620211PTCHD1-ASn.260-18076C>T
dbSNP gnomAD v3 gnomAD v4
Xg.23082197G=CA2419527128PTCHD1-ASn.260-18076C=
Xg.23082198T>CCA327608125PTCHD1-ASn.260-18077A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.23082198T=CA2419527129PTCHD1-ASn.260-18077A=
Xg.23082199G>ACA327608126PTCHD1-ASn.260-18078C>T
dbSNP
Xg.23082199G=CA2419527130PTCHD1-ASn.260-18078C=
Xg.23082203T>CCA327608127PTCHD1-ASn.260-18082A>G
dbSNP gnomAD v3 gnomAD v4
Xg.23082203T=CA2419527131PTCHD1-ASn.260-18082A=
Xg.23082204A>CCA2820046867PTCHD1-ASn.260-18083T>G
Xg.23082207A=CA2419527132PTCHD1-ASn.260-18086T=
Xg.23082207A>GCA2820046868PTCHD1-ASn.260-18086T>C
Xg.23082207A>TCA874020016PTCHD1-ASn.260-18086T>A
dbSNP gnomAD v3 gnomAD v4
Xg.23082212C>ACA2419527134PTCHD1-ASn.260-18091G>T
dbSNP
Xg.23082212C=CA2419527133PTCHD1-ASn.260-18091G=
Xg.23082218C>ACA327608128PTCHD1-ASn.260-18097G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.23082218C=CA2419527135PTCHD1-ASn.260-18097G=
Xg.23082223C>TCA2565843288PTCHD1-ASn.260-18102G>A
Xg.23082227A=CA2419527136PTCHD1-ASn.260-18106T=
Xg.23082227A>GCA327608129PTCHD1-ASn.260-18106T>C
dbSNP
Xg.23082228C>ACA2419527138PTCHD1-ASn.260-18107G>T
dbSNP
Xg.23082228C=CA2419527137PTCHD1-ASn.260-18107G=
Xg.23082228C>GCA2419527139PTCHD1-ASn.260-18107G>C
dbSNP
Xg.23082228C>TCA327608130PTCHD1-ASn.260-18107G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.23082235_23082239delCA2820046869PTCHD1-ASn.260-18118_260-18114del
Xg.23082238G>CCA874020018PTCHD1-ASn.260-18117C>G
dbSNP
Xg.23082238G=CA2419527140PTCHD1-ASn.260-18117C=
Xg.23082241T>ACA2820046870PTCHD1-ASn.260-18120A>T
Xg.23082242_23082261delCA2820046871PTCHD1-ASn.260-18140_260-18121del
Xg.23082248C=CA2419527141PTCHD1-ASn.260-18127G=
Xg.23082248C>TCA327608131PTCHD1-ASn.260-18127G>A
dbSNP gnomAD v3 gnomAD v4
Xg.23082254A=CA2419527142PTCHD1-ASn.260-18133T=
Xg.23082254A>GCA1131620220PTCHD1-ASn.260-18133T>C
dbSNP gnomAD v3 gnomAD v4
Xg.23082258G>ACA327608132PTCHD1-ASn.260-18137C>T
dbSNP
Xg.23082258G=CA2419527143PTCHD1-ASn.260-18137C=
Xg.23082260C=CA2419527144PTCHD1-ASn.260-18139G=
Xg.23082260C>GCA1131620222PTCHD1-ASn.260-18139G>C
dbSNP gnomAD v3 gnomAD v4
Xg.23082260_23082264delinsCCTCTCA2419527145PTCHD1-ASn.260-18143_260-18139delinsAGAGG
Xg.23082265_23082268delCA874020021PTCHD1-ASn.260-18143_260-18140del
dbSNP gnomAD v3 gnomAD v4
Xg.23082262_23082263insTTTTTTTTTTTTTTTTTTTTTTTTTCA2820046872PTCHD1-ASn.260-18141_260-18140insAAAAAAAAAAAAAAAAAAAAAAAAA

Number of alleles fetched