Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.860685_860700delCA2576540610CFDc.145_160del (p.Ser49AlafsTer16)
c.7_22del (p.Ser3AlafsTer16)
c.124_139del (p.Ser42AlafsTer16)
19g.860692_860714dupCA2587806181CFDc.152_174dup (p.Gly59SerfsTer2)
c.14_36dup (p.Gly13SerfsTer2)
c.131_153dup (p.Gly52SerfsTer2)
 gnomAD v4
19g.860694C>ACA402920669CFDc.154C>A (p.Leu52Met)
c.16C>A (p.Leu6Met)
c.133C>A (p.Leu45Met)
 gnomAD v4
19g.860694C=CA2317364700CFDc.154C= (p.Leu52=)
c.16C= (p.Leu6=)
c.133C= (p.Leu45=)
19g.860694C>GCA402920670CFDc.154C>G (p.Leu52Val)
c.16C>G (p.Leu6Val)
c.133C>G (p.Leu45Val)
 gnomAD v4
19g.860694C>TCA504881822CFDc.154C>T (p.Leu52=)
c.16C>T (p.Leu6=)
c.133C>T (p.Leu45=)
 dbSNP gnomAD v4
19g.860695T>ACA402920671CFDc.155T>A (p.Leu52Gln)
c.17T>A (p.Leu6Gln)
c.134T>A (p.Leu45Gln)
 gnomAD v4
19g.860695T>CCA402920672CFDc.155T>C (p.Leu52Pro)
c.17T>C (p.Leu6Pro)
c.134T>C (p.Leu45Pro)
 dbSNP gnomAD v4
19g.860695T>GCA402920673CFDc.155T>G (p.Leu52Arg)
c.17T>G (p.Leu6Arg)
c.134T>G (p.Leu45Arg)
19g.860695T=CA2317364701CFDc.155T= (p.Leu52=)
c.17T= (p.Leu6=)
c.134T= (p.Leu45=)
19g.860696G>ACA9026227CFDc.156G>A (p.Leu52=)
c.18G>A (p.Leu6=)
c.135G>A (p.Leu45=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.860696G>CCA504881823CFDc.156G>C (p.Leu52=)
c.18G>C (p.Leu6=)
c.135G>C (p.Leu45=)
 gnomAD v4
19g.860696G=CA2317364702CFDc.156G= (p.Leu52=)
c.18G= (p.Leu6=)
c.135G= (p.Leu45=)
19g.860696G>TCA504881824CFDc.156G>T (p.Leu52=)
c.18G>T (p.Leu6=)
c.135G>T (p.Leu45=)
 gnomAD v4
19g.860697A>CCA402920676CFDc.157A>C (p.Asn53His)
c.19A>C (p.Asn7His)
c.136A>C (p.Asn46His)
19g.860697A>GCA402920674CFDc.157A>G (p.Asn53Asp)
c.19A>G (p.Asn7Asp)
c.136A>G (p.Asn46Asp)
 gnomAD v4
19g.860697A>TCA402920675CFDc.157A>T (p.Asn53Tyr)
c.19A>T (p.Asn7Tyr)
c.136A>T (p.Asn46Tyr)
19g.860698A=CA2317364703CFDc.158A= (p.Asn53=)
c.20A= (p.Asn7=)
c.137A= (p.Asn46=)
19g.860698A>CCA402920677CFDc.158A>C (p.Asn53Thr)
c.20A>C (p.Asn7Thr)
c.137A>C (p.Asn46Thr)
19g.860698A>GCA402920679CFDc.158A>G (p.Asn53Ser)
c.20A>G (p.Asn7Ser)
c.137A>G (p.Asn46Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.860698A>TCA402920678CFDc.158A>T (p.Asn53Ile)
c.20A>T (p.Asn7Ile)
c.137A>T (p.Asn46Ile)
19g.860699C>ACA9026228CFDc.159C>A (p.Asn53Lys)
c.21C>A (p.Asn7Lys)
c.138C>A (p.Asn46Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.860699C=CA2317364704CFDc.159C= (p.Asn53=)
c.21C= (p.Asn7=)
c.138C= (p.Asn46=)
19g.860699C>GCA402920680CFDc.159C>G (p.Asn53Lys)
c.21C>G (p.Asn7Lys)
c.138C>G (p.Asn46Lys)
19g.860699C>TCA504881825CFDc.159C>T (p.Asn53=)
c.21C>T (p.Asn7=)
c.138C>T (p.Asn46=)
 dbSNP gnomAD v2 gnomAD v4
19g.860700G>ACA402920681CFDc.160G>A (p.Gly54Ser)
c.22G>A (p.Gly8Ser)
c.139G>A (p.Gly47Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.860700G>CCA9026229CFDc.160G>C (p.Gly54Arg)
c.22G>C (p.Gly8Arg)
c.139G>C (p.Gly47Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.860700G=CA2317364705CFDc.160G= (p.Gly54=)
c.22G= (p.Gly8=)
c.139G= (p.Gly47=)
19g.860700G>TCA402920682CFDc.160G>T (p.Gly54Cys)
c.22G>T (p.Gly8Cys)
c.139G>T (p.Gly47Cys)
 gnomAD v4
19g.860701G>ACA402920683CFDc.161G>A (p.Gly54Asp)
c.23G>A (p.Gly8Asp)
c.140G>A (p.Gly47Asp)
 gnomAD v4
19g.860701G>CCA402920684CFDc.161G>C (p.Gly54Ala)
c.23G>C (p.Gly8Ala)
c.140G>C (p.Gly47Ala)
19g.860701G>TCA402920685CFDc.161G>T (p.Gly54Val)
c.23G>T (p.Gly8Val)
c.140G>T (p.Gly47Val)
 gnomAD v4
19g.860702_860715delCA2576540611CFDc.162_175del (p.Ala55ArgfsTer?)
c.24_37del (p.Ala9ArgfsTer?)
c.141_154del (p.Ala48ArgfsTer?)
19g.860702C>ACA504881826CFDc.162C>A (p.Gly54=)
c.24C>A (p.Gly8=)
c.141C>A (p.Gly47=)
 gnomAD v4
19g.860702C=CA2317364706CFDc.162C= (p.Gly54=)
c.24C= (p.Gly8=)
c.141C= (p.Gly47=)
19g.860702C>GCA504881827CFDc.162C>G (p.Gly54=)
c.24C>G (p.Gly8=)
c.141C>G (p.Gly47=)
19g.860702C>TCA504881828CFDc.162C>T (p.Gly54=)
c.24C>T (p.Gly8=)
c.141C>T (p.Gly47=)
 dbSNP gnomAD v4
19g.860703G>ACA402920686CFDc.163G>A (p.Ala55Thr)
c.25G>A (p.Ala9Thr)
c.142G>A (p.Ala48Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.860703G>CCA402920687CFDc.163G>C (p.Ala55Pro)
c.25G>C (p.Ala9Pro)
c.142G>C (p.Ala48Pro)
19g.860703G=CA2317364707CFDc.163G= (p.Ala55=)
c.25G= (p.Ala9=)
c.142G= (p.Ala48=)
19g.860703G>TCA402920688CFDc.163G>T (p.Ala55Ser)
c.25G>T (p.Ala9Ser)
c.142G>T (p.Ala48Ser)
 gnomAD v4
19g.860704C>ACA402920691CFDc.164C>A (p.Ala55Glu)
c.26C>A (p.Ala9Glu)
c.143C>A (p.Ala48Glu)
 gnomAD v4
19g.860704C>GCA402920690CFDc.164C>G (p.Ala55Gly)
c.26C>G (p.Ala9Gly)
c.143C>G (p.Ala48Gly)
19g.860704C>TCA402920689CFDc.164C>T (p.Ala55Val)
c.26C>T (p.Ala9Val)
c.143C>T (p.Ala48Val)
 gnomAD v4
19g.860705G>ACA504881829CFDc.165G>A (p.Ala55=)
c.27G>A (p.Ala9=)
c.144G>A (p.Ala48=)
 gnomAD v4
19g.860705G>CCA504881830CFDc.165G>C (p.Ala55=)
c.27G>C (p.Ala9=)
c.144G>C (p.Ala48=)
19g.860705G=CA2317364708CFDc.165G= (p.Ala55=)
c.27G= (p.Ala9=)
c.144G= (p.Ala48=)
19g.860705G>TCA504881831CFDc.165G>T (p.Ala55=)
c.27G>T (p.Ala9=)
c.144G>T (p.Ala48=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.860706C>ACA402920692CFDc.166C>A (p.His56Asn)
c.28C>A (p.His10Asn)
c.145C>A (p.His49Asn)
 gnomAD v4
19g.860706C=CA2317364709CFDc.166C= (p.His56=)
c.28C= (p.His10=)
c.145C= (p.His49=)

Number of alleles fetched