Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22221505C>TCA1131572281PHEX,PTCHD1-ASc.1769-108C>T (p.=)
c.1013-108C>T (p.=)
c.662-108C>T (p.=)
n.1048+5965G>A
c.1478-108C>T (p.=)
n.2609-108C>T
Xg.22221513T>CCA327531983PHEX,PTCHD1-ASc.1769-100T>C (p.=)
c.1013-100T>C (p.=)
c.662-100T>C (p.=)
n.1048+5957A>G
c.1478-100T>C (p.=)
n.2609-100T>C
dbSNP gnomAD
Xg.22221527delCA1131572283PHEX,PTCHD1-ASc.1769-86del (p.=)
c.1013-86del (p.=)
c.662-86del (p.=)
n.1048+5947del
c.1478-86del (p.=)
n.2609-86del
Xg.22221538C>TCA640415434PHEX,PTCHD1-ASc.1769-75C>T (p.=)
c.1013-75C>T (p.=)
c.662-75C>T (p.=)
n.1048+5932G>A
c.1478-75C>T (p.=)
n.2609-75C>T
gnomAD
Xg.22221544G>ACA657753401PHEX,PTCHD1-ASc.1769-69G>A (p.=)
c.1013-69G>A (p.=)
c.662-69G>A (p.=)
n.1048+5926C>T
c.1478-69G>A (p.=)
n.2609-69G>A
COSMIC COSMIC
Xg.22221559T>CCA873949348PHEX,PTCHD1-ASc.1769-54T>C (p.=)
c.1013-54T>C (p.=)
c.662-54T>C (p.=)
n.1048+5911A>G
c.1478-54T>C (p.=)
n.2609-54T>C
Xg.22221566A>CCA640415436PHEX,PTCHD1-ASc.1769-47A>C (p.=)
c.1013-47A>C (p.=)
c.662-47A>C (p.=)
n.1048+5904T>G
c.1478-47A>C (p.=)
n.2609-47A>C
gnomAD
Xg.22221566A>GCA10368345PHEX,PTCHD1-ASc.1769-47A>G (p.=)
c.1013-47A>G (p.=)
c.662-47A>G (p.=)
n.1048+5904T>C
c.1478-47A>G (p.=)
n.2609-47A>G
dbSNP ExAC gnomAD
Xg.22221570T>GCA10368346PHEX,PTCHD1-ASc.1769-43T>G (p.=)
c.1013-43T>G (p.=)
c.662-43T>G (p.=)
n.1048+5900A>C
c.1478-43T>G (p.=)
n.2609-43T>G
dbSNP ExAC gnomAD
Xg.22221571C>ACA1131572291PHEX,PTCHD1-ASc.1769-42C>A (p.=)
c.1013-42C>A (p.=)
c.662-42C>A (p.=)
n.1048+5899G>T
c.1478-42C>A (p.=)
n.2609-42C>A
Xg.22221573A>GCA657753405PHEX,PTCHD1-ASc.1769-40A>G (p.=)
c.1013-40A>G (p.=)
c.662-40A>G (p.=)
n.1048+5897T>C
c.1478-40A>G (p.=)
n.2609-40A>G
COSMIC
Xg.22221574_22221578dupCA873949360PHEX,PTCHD1-ASc.1769-39_1769-35dup (p.=)
c.1013-39_1013-35dup (p.=)
c.662-39_662-35dup (p.=)
n.1048+5892_1048+5896dup
c.1478-39_1478-35dup (p.=)
n.2609-39_2609-35dup
dbSNP
Xg.22221581C>TCA640415442PHEX,PTCHD1-ASc.1769-32C>T (p.=)
c.1013-32C>T (p.=)
c.662-32C>T (p.=)
n.1048+5889G>A
c.1478-32C>T (p.=)
n.2609-32C>T
gnomAD
Xg.22221593C>TCA10368347PHEX,PTCHD1-ASc.1769-20C>T (p.=)
c.1013-20C>T (p.=)
c.662-20C>T (p.=)
n.1048+5877G>A
c.1478-20C>T (p.=)
n.2609-20C>T
dbSNP ExAC gnomAD
Xg.22221594G>ACA10368348PHEX,PTCHD1-ASc.1769-19G>A (p.=)
c.1013-19G>A (p.=)
c.662-19G>A (p.=)
n.1048+5876C>T
c.1478-19G>A (p.=)
n.2609-19G>A
dbSNP ExAC gnomAD
Xg.22221599T>GCA10368349PHEX,PTCHD1-ASc.1769-14T>G (p.=)
c.1013-14T>G (p.=)
c.662-14T>G (p.=)
n.1048+5871A>C
c.1478-14T>G (p.=)
n.2609-14T>G
dbSNP ExAC gnomAD
Xg.22221600T>CCA657753410PHEX,PTCHD1-ASc.1769-13T>C (p.=)
c.1013-13T>C (p.=)
c.662-13T>C (p.=)
n.1048+5870A>G
c.1478-13T>C (p.=)
n.2609-13T>C
COSMIC COSMIC
Xg.22221603C>TCA10368350PHEX,PTCHD1-ASc.1769-10C>T (p.=)
c.1013-10C>T (p.=)
c.662-10C>T (p.=)
n.1048+5867G>A
c.1478-10C>T (p.=)
n.2609-10C>T
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched