Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.29813817G>ACA395479597PRRT2c.763G>A (p.Gly255Arg)
c.339+424G>A (p.=)
c.724+39G>A (p.=)
c.*78G>A (p.=)
c.721+42G>A (p.=)
16g.29813817G>CCA395479599PRRT2c.763G>C (p.Gly255Arg)
c.339+424G>C (p.=)
c.724+39G>C (p.=)
c.*78G>C (p.=)
c.721+42G>C (p.=)
16g.29813817G>TCA395479593PRRT2c.763G>T (p.Gly255Trp)
c.339+424G>T (p.=)
c.724+39G>T (p.=)
c.*78G>T (p.=)
c.721+42G>T (p.=)
16g.29813823_29813832delCA10603267PRRT2c.769_778del (p.Glu257LysfsTer?)
c.339+430_339+439del (p.=)
c.724+45_724+54del (p.=)
c.*84_*93del (p.=)
c.721+48_721+57del (p.=)
ClinVar dbSNP
16g.29813818G>ACA280410276PRRT2c.764G>A (p.Gly255Glu)
c.339+425G>A (p.=)
c.724+40G>A (p.=)
c.*79G>A (p.=)
c.721+43G>A (p.=)
ClinVar dbSNP gnomAD
16g.29813818G>CCA395479600PRRT2c.764G>C (p.Gly255Ala)
c.339+425G>C (p.=)
c.724+40G>C (p.=)
c.*79G>C (p.=)
c.721+43G>C (p.=)
16g.29813818G>TCA395479603PRRT2c.764G>T (p.Gly255Val)
c.339+425G>T (p.=)
c.724+40G>T (p.=)
c.*79G>T (p.=)
c.721+43G>T (p.=)
16g.29813819G>ACA494883985PRRT2c.765G>A (p.Gly255=)
c.339+426G>A (p.=)
c.724+41G>A (p.=)
c.*80G>A (p.=)
c.721+44G>A (p.=)
16g.29813819G>CCA494883987PRRT2c.765G>C (p.Gly255=)
c.339+426G>C (p.=)
c.724+41G>C (p.=)
c.*80G>C (p.=)
c.721+44G>C (p.=)
16g.29813819G>TCA494883988PRRT2c.765G>T (p.Gly255=)
c.339+426G>T (p.=)
c.724+41G>T (p.=)
c.*80G>T (p.=)
c.721+44G>T (p.=)
16g.29813820G>ACA7994584PRRT2c.766G>A (p.Val256Met)
c.339+427G>A (p.=)
c.724+42G>A (p.=)
c.*81G>A (p.=)
c.721+45G>A (p.=)
ClinVar dbSNP ExAC gnomAD
16g.29813820G>CCA395479609PRRT2c.766G>C (p.Val256Leu)
c.339+427G>C (p.=)
c.724+42G>C (p.=)
c.*81G>C (p.=)
c.721+45G>C (p.=)
16g.29813820G>TCA395479610PRRT2c.766G>T (p.Val256Leu)
c.339+427G>T (p.=)
c.724+42G>T (p.=)
c.*81G>T (p.=)
c.721+45G>T (p.=)
16g.29813821T>ACA395479614PRRT2c.767T>A (p.Val256Glu)
c.339+428T>A (p.=)
c.724+43T>A (p.=)
c.*82T>A (p.=)
c.721+46T>A (p.=)
16g.29813821T>CCA395479616PRRT2c.767T>C (p.Val256Ala)
c.339+428T>C (p.=)
c.724+43T>C (p.=)
c.*82T>C (p.=)
c.721+46T>C (p.=)
COSMIC COSMIC
16g.29813821T>GCA395479617PRRT2c.767T>G (p.Val256Gly)
c.339+428T>G (p.=)
c.724+43T>G (p.=)
c.*82T>G (p.=)
c.721+46T>G (p.=)
16g.29813822G>ACA494883989PRRT2c.768G>A (p.Val256=)
c.339+429G>A (p.=)
c.724+44G>A (p.=)
c.*83G>A (p.=)
c.721+47G>A (p.=)
16g.29813822G>CCA494883991PRRT2c.768G>C (p.Val256=)
c.339+429G>C (p.=)
c.724+44G>C (p.=)
c.*83G>C (p.=)
c.721+47G>C (p.=)
16g.29813822G>TCA494883990PRRT2c.768G>T (p.Val256=)
c.339+429G>T (p.=)
c.724+44G>T (p.=)
c.*83G>T (p.=)
c.721+47G>T (p.=)
16g.29813823G>ACA395479619PRRT2c.769G>A (p.Glu257Lys)
c.339+430G>A (p.=)
c.724+45G>A (p.=)
c.*84G>A (p.=)
c.721+48G>A (p.=)
16g.29813823G>CCA395479621PRRT2c.769G>C (p.Glu257Gln)
c.339+430G>C (p.=)
c.724+45G>C (p.=)
c.*84G>C (p.=)
c.721+48G>C (p.=)
16g.29813823G>TCA395479623PRRT2c.769G>T (p.Glu257Ter)
c.339+430G>T (p.=)
c.724+45G>T (p.=)
c.*84G>T (p.=)
c.721+48G>T (p.=)
16g.29813824A>CCA395479629PRRT2c.770A>C (p.Glu257Ala)
c.339+431A>C (p.=)
c.724+46A>C (p.=)
c.*85A>C (p.=)
c.721+49A>C (p.=)
16g.29813824A>GCA395479624PRRT2c.770A>G (p.Glu257Gly)
c.339+431A>G (p.=)
c.724+46A>G (p.=)
c.*85A>G (p.=)
c.721+49A>G (p.=)
16g.29813824A>TCA395479626PRRT2c.770A>T (p.Glu257Val)
c.339+431A>T (p.=)
c.724+46A>T (p.=)
c.*85A>T (p.=)
c.721+49A>T (p.=)
gnomAD
16g.29813825G>ACA494883998PRRT2c.771G>A (p.Glu257=)
c.339+432G>A (p.=)
c.724+47G>A (p.=)
c.*86G>A (p.=)
c.721+50G>A (p.=)
16g.29813825G>CCA395479630PRRT2c.771G>C (p.Glu257Asp)
c.339+432G>C (p.=)
c.724+47G>C (p.=)
c.*86G>C (p.=)
c.721+50G>C (p.=)
16g.29813825G>TCA395479632PRRT2c.771G>T (p.Glu257Asp)
c.339+432G>T (p.=)
c.724+47G>T (p.=)
c.*86G>T (p.=)
c.721+50G>T (p.=)
16g.29813830dupCA1139664646PRRT2c.776dup (p.Glu260Ter)
c.339+437dup (p.=)
c.724+52dup (p.=)
c.*91dup (p.=)
c.721+55dup (p.=)
ClinVar
16g.29813830delCA494883999PRRT2c.776del (p.Gly259ValfsTer?)
c.339+437del (p.=)
c.724+52del (p.=)
c.*91del (p.=)
c.721+55del (p.=)
ClinVar COSMIC COSMIC
16g.29813826G>ACA395479636PRRT2c.772G>A (p.Gly258Arg)
c.339+433G>A (p.=)
c.724+48G>A (p.=)
c.*87G>A (p.=)
c.721+51G>A (p.=)
gnomAD
16g.29813826G>CCA280410301PRRT2c.772G>C (p.Gly258Arg)
c.339+433G>C (p.=)
c.724+48G>C (p.=)
c.*87G>C (p.=)
c.721+51G>C (p.=)
ClinVar dbSNP
16g.29813826G>TCA395479649PRRT2c.772G>T (p.Gly258Trp)
c.339+433G>T (p.=)
c.724+48G>T (p.=)
c.*87G>T (p.=)
c.721+51G>T (p.=)
16g.29813827G>ACA7994585PRRT2c.773G>A (p.Gly258Glu)
c.339+434G>A (p.=)
c.724+49G>A (p.=)
c.*88G>A (p.=)
c.721+52G>A (p.=)
ClinVar dbSNP ExAC gnomAD
16g.29813827G>CCA395479653PRRT2c.773G>C (p.Gly258Ala)
c.339+434G>C (p.=)
c.724+49G>C (p.=)
c.*88G>C (p.=)
c.721+52G>C (p.=)
16g.29813827G>TCA395479654PRRT2c.773G>T (p.Gly258Val)
c.339+434G>T (p.=)
c.724+49G>T (p.=)
c.*88G>T (p.=)
c.721+52G>T (p.=)
gnomAD
16g.29813828G>ACA494884007PRRT2c.774G>A (p.Gly258=)
c.339+435G>A (p.=)
c.724+50G>A (p.=)
c.*89G>A (p.=)
c.721+53G>A (p.=)
16g.29813828G>CCA494884009PRRT2c.774G>C (p.Gly258=)
c.339+435G>C (p.=)
c.724+50G>C (p.=)
c.*89G>C (p.=)
c.721+53G>C (p.=)
16g.29813828G>TCA494884008PRRT2c.774G>T (p.Gly258=)
c.339+435G>T (p.=)
c.724+50G>T (p.=)
c.*89G>T (p.=)
c.721+53G>T (p.=)
ClinVar
16g.29813829G>ACA395479660PRRT2c.775G>A (p.Gly259Ser)
c.339+436G>A (p.=)
c.724+51G>A (p.=)
c.*90G>A (p.=)
c.721+54G>A (p.=)
16g.29813829G>CCA395479662PRRT2c.775G>C (p.Gly259Arg)
c.339+436G>C (p.=)
c.724+51G>C (p.=)
c.*90G>C (p.=)
c.721+54G>C (p.=)
16g.29813829G>TCA395479665PRRT2c.775G>T (p.Gly259Cys)
c.339+436G>T (p.=)
c.724+51G>T (p.=)
c.*90G>T (p.=)
c.721+54G>T (p.=)
16g.29813830G>ACA395479675PRRT2c.776G>A (p.Gly259Asp)
c.339+437G>A (p.=)
c.724+52G>A (p.=)
c.*91G>A (p.=)
c.721+55G>A (p.=)
16g.29813830G>CCA7994586PRRT2c.776G>C (p.Gly259Ala)
c.339+437G>C (p.=)
c.724+52G>C (p.=)
c.*91G>C (p.=)
c.721+55G>C (p.=)
dbSNP ExAC gnomAD
16g.29813830G>TCA395479668PRRT2c.776G>T (p.Gly259Val)
c.339+437G>T (p.=)
c.724+52G>T (p.=)
c.*91G>T (p.=)
c.721+55G>T (p.=)
16g.29813831T>ACA494884015PRRT2c.777T>A (p.Gly259=)
c.339+438T>A (p.=)
c.724+53T>A (p.=)
c.*92T>A (p.=)
c.721+56T>A (p.=)
16g.29813831T>CCA494884016PRRT2c.777T>C (p.Gly259=)
c.339+438T>C (p.=)
c.724+53T>C (p.=)
c.*92T>C (p.=)
c.721+56T>C (p.=)
16g.29813831T>GCA494884017PRRT2c.777T>G (p.Gly259=)
c.339+438T>G (p.=)
c.724+53T>G (p.=)
c.*92T>G (p.=)
c.721+56T>G (p.=)
16g.29813832G>ACA395479680PRRT2c.778G>A (p.Glu260Lys)
c.339+439G>A (p.=)
c.724+54G>A (p.=)
c.*93G>A (p.=)
c.721+57G>A (p.=)
gnomAD
16g.29813832G>CCA395479682PRRT2c.778G>C (p.Glu260Gln)
c.339+439G>C (p.=)
c.724+54G>C (p.=)
c.*93G>C (p.=)
c.721+57G>C (p.=)

Number of alleles fetched