Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26463919G>ACA2658233658OTOFc.5103+45C>T (n.5103+45C>T)
c.2802+45C>T (n.2802+45C>T)
c.2862+45C>T (n.2862+45C>T)
c.3033+45C>T (n.3033+45C>T)
n.852+45C>T
c.5088+45C>T (n.5088+45C>T)
c.5148+45C>T (n.5148+45C>T)
c.5043+45C>T (n.5043+45C>T)
 gnomAD v4
2g.26463919G>CCA1562935OTOFc.5103+45C>G (n.5103+45C>G)
c.2802+45C>G (n.2802+45C>G)
c.2862+45C>G (n.2862+45C>G)
c.3033+45C>G (n.3033+45C>G)
n.852+45C>G
c.5088+45C>G (n.5088+45C>G)
c.5148+45C>G (n.5148+45C>G)
c.5043+45C>G (n.5043+45C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463919G=CA1239814423OTOFc.5103+45C= (n.5103+45C=)
c.2802+45C= (n.2802+45C=)
c.2862+45C= (n.2862+45C=)
c.3033+45C= (n.3033+45C=)
n.852+45C=
c.5088+45C= (n.5088+45C=)
c.5148+45C= (n.5148+45C=)
c.5043+45C= (n.5043+45C=)
2g.26463920_26463921delinsTCCA1239814426OTOFc.5103+43_5103+44delinsGA (n.5103+43_5103+44delinsGA)
c.2802+43_2802+44delinsGA (n.2802+43_2802+44delinsGA)
c.2862+43_2862+44delinsGA (n.2862+43_2862+44delinsGA)
c.3033+43_3033+44delinsGA (n.3033+43_3033+44delinsGA)
n.852+43_852+44delinsGA
c.5088+43_5088+44delinsGA (n.5088+43_5088+44delinsGA)
c.5148+43_5148+44delinsGA (n.5148+43_5148+44delinsGA)
c.5043+43_5043+44delinsGA (n.5043+43_5043+44delinsGA)
2g.26463921C>GCA2576698929OTOFc.5103+43G>C (n.5103+43G>C)
c.2802+43G>C (n.2802+43G>C)
c.2862+43G>C (n.2862+43G>C)
c.3033+43G>C (n.3033+43G>C)
n.852+43G>C
c.5088+43G>C (n.5088+43G>C)
c.5148+43G>C (n.5148+43G>C)
c.5043+43G>C (n.5043+43G>C)
 gnomAD v4
2g.26463921C>TCA2658233663OTOFc.5103+43G>A (n.5103+43G>A)
c.2802+43G>A (n.2802+43G>A)
c.2862+43G>A (n.2862+43G>A)
c.3033+43G>A (n.3033+43G>A)
n.852+43G>A
c.5088+43G>A (n.5088+43G>A)
c.5148+43G>A (n.5148+43G>A)
c.5043+43G>A (n.5043+43G>A)
 gnomAD v4
2g.26463924delCA1239814427OTOFc.5103+43del (n.5103+43del)
c.2802+43del (n.2802+43del)
c.2862+43del (n.2862+43del)
c.3033+43del (n.3033+43del)
n.852+43del
c.5088+43del (n.5088+43del)
c.5148+43del (n.5148+43del)
c.5043+43del (n.5043+43del)
 dbSNP
2g.26463923C=CA1239814429OTOFc.5103+41G= (n.5103+41G=)
c.2802+41G= (n.2802+41G=)
c.2862+41G= (n.2862+41G=)
c.3033+41G= (n.3033+41G=)
n.852+41G=
c.5088+41G= (n.5088+41G=)
c.5148+41G= (n.5148+41G=)
c.5043+41G= (n.5043+41G=)
2g.26463923C>TCA1562936OTOFc.5103+41G>A (n.5103+41G>A)
c.2802+41G>A (n.2802+41G>A)
c.2862+41G>A (n.2862+41G>A)
c.3033+41G>A (n.3033+41G>A)
n.852+41G>A
c.5088+41G>A (n.5088+41G>A)
c.5148+41G>A (n.5148+41G>A)
c.5043+41G>A (n.5043+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463924C=CA1239814433OTOFc.5103+40G= (n.5103+40G=)
c.2802+40G= (n.2802+40G=)
c.2862+40G= (n.2862+40G=)
c.3033+40G= (n.3033+40G=)
n.852+40G=
c.5088+40G= (n.5088+40G=)
c.5148+40G= (n.5148+40G=)
c.5043+40G= (n.5043+40G=)
2g.26463924C>TCA1562937OTOFc.5103+40G>A (n.5103+40G>A)
c.2802+40G>A (n.2802+40G>A)
c.2862+40G>A (n.2862+40G>A)
c.3033+40G>A (n.3033+40G>A)
n.852+40G>A
c.5088+40G>A (n.5088+40G>A)
c.5148+40G>A (n.5148+40G>A)
c.5043+40G>A (n.5043+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463926A=CA1239814435OTOFc.5103+38T= (n.5103+38T=)
c.2802+38T= (n.2802+38T=)
c.2862+38T= (n.2862+38T=)
c.3033+38T= (n.3033+38T=)
n.852+38T=
c.5088+38T= (n.5088+38T=)
c.5148+38T= (n.5148+38T=)
c.5043+38T= (n.5043+38T=)
2g.26463926A>GCA531395446OTOFc.5103+38T>C (n.5103+38T>C)
c.2802+38T>C (n.2802+38T>C)
c.2862+38T>C (n.2862+38T>C)
c.3033+38T>C (n.3033+38T>C)
n.852+38T>C
c.5088+38T>C (n.5088+38T>C)
c.5148+38T>C (n.5148+38T>C)
c.5043+38T>C (n.5043+38T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463926_26463927delinsATCA1239814436OTOFc.5103+37_5103+38delinsAT (n.5103+37_5103+38delinsAT)
c.2802+37_2802+38delinsAT (n.2802+37_2802+38delinsAT)
c.2862+37_2862+38delinsAT (n.2862+37_2862+38delinsAT)
c.3033+37_3033+38delinsAT (n.3033+37_3033+38delinsAT)
n.852+37_852+38delinsAT
c.5088+37_5088+38delinsAT (n.5088+37_5088+38delinsAT)
c.5148+37_5148+38delinsAT (n.5148+37_5148+38delinsAT)
c.5043+37_5043+38delinsAT (n.5043+37_5043+38delinsAT)
2g.26463927delCA1239814438OTOFc.5103+37del (n.5103+37del)
c.2802+37del (n.2802+37del)
c.2862+37del (n.2862+37del)
c.3033+37del (n.3033+37del)
n.852+37del
c.5088+37del (n.5088+37del)
c.5148+37del (n.5148+37del)
c.5043+37del (n.5043+37del)
 dbSNP
2g.26463928A=CA1239814442OTOFc.5103+36T= (n.5103+36T=)
c.2802+36T= (n.2802+36T=)
c.2862+36T= (n.2862+36T=)
c.3033+36T= (n.3033+36T=)
n.852+36T=
c.5088+36T= (n.5088+36T=)
c.5148+36T= (n.5148+36T=)
c.5043+36T= (n.5043+36T=)
2g.26463928A>CCA1239814440OTOFc.5103+36T>G (n.5103+36T>G)
c.2802+36T>G (n.2802+36T>G)
c.2862+36T>G (n.2862+36T>G)
c.3033+36T>G (n.3033+36T>G)
n.852+36T>G
c.5088+36T>G (n.5088+36T>G)
c.5148+36T>G (n.5148+36T>G)
c.5043+36T>G (n.5043+36T>G)
 dbSNP
2g.26463928A>GCA531395447OTOFc.5103+36T>C (n.5103+36T>C)
c.2802+36T>C (n.2802+36T>C)
c.2862+36T>C (n.2862+36T>C)
c.3033+36T>C (n.3033+36T>C)
n.852+36T>C
c.5088+36T>C (n.5088+36T>C)
c.5148+36T>C (n.5148+36T>C)
c.5043+36T>C (n.5043+36T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26463929C>ACA767291673OTOFc.5103+35G>T (n.5103+35G>T)
c.2802+35G>T (n.2802+35G>T)
c.2862+35G>T (n.2862+35G>T)
c.3033+35G>T (n.3033+35G>T)
n.852+35G>T
c.5088+35G>T (n.5088+35G>T)
c.5148+35G>T (n.5148+35G>T)
c.5043+35G>T (n.5043+35G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.26463929C=CA1239814444OTOFc.5103+35G= (n.5103+35G=)
c.2802+35G= (n.2802+35G=)
c.2862+35G= (n.2862+35G=)
c.3033+35G= (n.3033+35G=)
n.852+35G=
c.5088+35G= (n.5088+35G=)
c.5148+35G= (n.5148+35G=)
c.5043+35G= (n.5043+35G=)
2g.26463929C>TCA1239814446OTOFc.5103+35G>A (n.5103+35G>A)
c.2802+35G>A (n.2802+35G>A)
c.2862+35G>A (n.2862+35G>A)
c.3033+35G>A (n.3033+35G>A)
n.852+35G>A
c.5088+35G>A (n.5088+35G>A)
c.5148+35G>A (n.5148+35G>A)
c.5043+35G>A (n.5043+35G>A)
 dbSNP gnomAD v4
2g.26463931delCA2658233677OTOFc.5103+35del (n.5103+35del)
c.2802+35del (n.2802+35del)
c.2862+35del (n.2862+35del)
c.3033+35del (n.3033+35del)
n.852+35del
c.5088+35del (n.5088+35del)
c.5148+35del (n.5148+35del)
c.5043+35del (n.5043+35del)
 gnomAD v4
2g.26463930C>GCA2576698930OTOFc.5103+34G>C (n.5103+34G>C)
c.2802+34G>C (n.2802+34G>C)
c.2862+34G>C (n.2862+34G>C)
c.3033+34G>C (n.3033+34G>C)
n.852+34G>C
c.5088+34G>C (n.5088+34G>C)
c.5148+34G>C (n.5148+34G>C)
c.5043+34G>C (n.5043+34G>C)
2g.26463930C>TCA2658233683OTOFc.5103+34G>A (n.5103+34G>A)
c.2802+34G>A (n.2802+34G>A)
c.2862+34G>A (n.2862+34G>A)
c.3033+34G>A (n.3033+34G>A)
n.852+34G>A
c.5088+34G>A (n.5088+34G>A)
c.5148+34G>A (n.5148+34G>A)
c.5043+34G>A (n.5043+34G>A)
 gnomAD v4
2g.26463931_26463932delinsCACA1239814448OTOFc.5103+32_5103+33delinsTG (n.5103+32_5103+33delinsTG)
c.2802+32_2802+33delinsTG (n.2802+32_2802+33delinsTG)
c.2862+32_2862+33delinsTG (n.2862+32_2862+33delinsTG)
c.3033+32_3033+33delinsTG (n.3033+32_3033+33delinsTG)
n.852+32_852+33delinsTG
c.5088+32_5088+33delinsTG (n.5088+32_5088+33delinsTG)
c.5148+32_5148+33delinsTG (n.5148+32_5148+33delinsTG)
c.5043+32_5043+33delinsTG (n.5043+32_5043+33delinsTG)
2g.26463932A>GCA2658233685OTOFc.5103+32T>C (n.5103+32T>C)
c.2802+32T>C (n.2802+32T>C)
c.2862+32T>C (n.2862+32T>C)
c.3033+32T>C (n.3033+32T>C)
n.852+32T>C
c.5088+32T>C (n.5088+32T>C)
c.5148+32T>C (n.5148+32T>C)
c.5043+32T>C (n.5043+32T>C)
 gnomAD v4
2g.26463933delCA531395449OTOFc.5103+32del (n.5103+32del)
c.2802+32del (n.2802+32del)
c.2862+32del (n.2862+32del)
c.3033+32del (n.3033+32del)
n.852+32del
c.5088+32del (n.5088+32del)
c.5148+32del (n.5148+32del)
c.5043+32del (n.5043+32del)
 dbSNP gnomAD v2 gnomAD v4
2g.26463937C>ACA531395450OTOFc.5103+27G>T (n.5103+27G>T)
c.2802+27G>T (n.2802+27G>T)
c.2862+27G>T (n.2862+27G>T)
c.3033+27G>T (n.3033+27G>T)
n.852+27G>T
c.5088+27G>T (n.5088+27G>T)
c.5148+27G>T (n.5148+27G>T)
c.5043+27G>T (n.5043+27G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463937C=CA1239814452OTOFc.5103+27G= (n.5103+27G=)
c.2802+27G= (n.2802+27G=)
c.2862+27G= (n.2862+27G=)
c.3033+27G= (n.3033+27G=)
n.852+27G=
c.5088+27G= (n.5088+27G=)
c.5148+27G= (n.5148+27G=)
c.5043+27G= (n.5043+27G=)
2g.26463937C>GCA44410767OTOFc.5103+27G>C (n.5103+27G>C)
c.2802+27G>C (n.2802+27G>C)
c.2862+27G>C (n.2862+27G>C)
c.3033+27G>C (n.3033+27G>C)
n.852+27G>C
c.5088+27G>C (n.5088+27G>C)
c.5148+27G>C (n.5148+27G>C)
c.5043+27G>C (n.5043+27G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463940delCA2658233689OTOFc.5103+27del (n.5103+27del)
c.2802+27del (n.2802+27del)
c.2862+27del (n.2862+27del)
c.3033+27del (n.3033+27del)
n.852+27del
c.5088+27del (n.5088+27del)
c.5148+27del (n.5148+27del)
c.5043+27del (n.5043+27del)
 gnomAD v4
2g.26463938C>ACA2749240358OTOFc.5103+26G>T (n.5103+26G>T)
c.2802+26G>T (n.2802+26G>T)
c.2862+26G>T (n.2862+26G>T)
c.3033+26G>T (n.3033+26G>T)
n.852+26G>T
c.5088+26G>T (n.5088+26G>T)
c.5148+26G>T (n.5148+26G>T)
c.5043+26G>T (n.5043+26G>T)
2g.26463938C=CA1239814456OTOFc.5103+26G= (n.5103+26G=)
c.2802+26G= (n.2802+26G=)
c.2862+26G= (n.2862+26G=)
c.3033+26G= (n.3033+26G=)
n.852+26G=
c.5088+26G= (n.5088+26G=)
c.5148+26G= (n.5148+26G=)
c.5043+26G= (n.5043+26G=)
2g.26463938C>TCA531395451OTOFc.5103+26G>A (n.5103+26G>A)
c.2802+26G>A (n.2802+26G>A)
c.2862+26G>A (n.2862+26G>A)
c.3033+26G>A (n.3033+26G>A)
n.852+26G>A
c.5088+26G>A (n.5088+26G>A)
c.5148+26G>A (n.5148+26G>A)
c.5043+26G>A (n.5043+26G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463939C>ACA2658233695OTOFc.5103+25G>T (n.5103+25G>T)
c.2802+25G>T (n.2802+25G>T)
c.2862+25G>T (n.2862+25G>T)
c.3033+25G>T (n.3033+25G>T)
n.852+25G>T
c.5088+25G>T (n.5088+25G>T)
c.5148+25G>T (n.5148+25G>T)
c.5043+25G>T (n.5043+25G>T)
 gnomAD v4
2g.26463941A>TCA2576698931OTOFc.5103+23T>A (n.5103+23T>A)
c.2802+23T>A (n.2802+23T>A)
c.2862+23T>A (n.2862+23T>A)
c.3033+23T>A (n.3033+23T>A)
n.852+23T>A
c.5088+23T>A (n.5088+23T>A)
c.5148+23T>A (n.5148+23T>A)
c.5043+23T>A (n.5043+23T>A)
2g.26463942G>TCA2749240359OTOFc.5103+22C>A (n.5103+22C>A)
c.2802+22C>A (n.2802+22C>A)
c.2862+22C>A (n.2862+22C>A)
c.3033+22C>A (n.3033+22C>A)
n.852+22C>A
c.5088+22C>A (n.5088+22C>A)
c.5148+22C>A (n.5148+22C>A)
c.5043+22C>A (n.5043+22C>A)
2g.26463943T>GCA1562938OTOFc.5103+21A>C (n.5103+21A>C)
c.2802+21A>C (n.2802+21A>C)
c.2862+21A>C (n.2862+21A>C)
c.3033+21A>C (n.3033+21A>C)
n.852+21A>C
c.5088+21A>C (n.5088+21A>C)
c.5148+21A>C (n.5148+21A>C)
c.5043+21A>C (n.5043+21A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26463943T=CA1239814458OTOFc.5103+21A= (n.5103+21A=)
c.2802+21A= (n.2802+21A=)
c.2862+21A= (n.2862+21A=)
c.3033+21A= (n.3033+21A=)
n.852+21A=
c.5088+21A= (n.5088+21A=)
c.5148+21A= (n.5148+21A=)
c.5043+21A= (n.5043+21A=)
2g.26463944C>TCA2658233697OTOFc.5103+20G>A (n.5103+20G>A)
c.2802+20G>A (n.2802+20G>A)
c.2862+20G>A (n.2862+20G>A)
c.3033+20G>A (n.3033+20G>A)
n.852+20G>A
c.5088+20G>A (n.5088+20G>A)
c.5148+20G>A (n.5148+20G>A)
c.5043+20G>A (n.5043+20G>A)
 gnomAD v4
2g.26463945T=CA1239814459OTOFc.5103+19A= (n.5103+19A=)
c.2802+19A= (n.2802+19A=)
c.2862+19A= (n.2862+19A=)
c.3033+19A= (n.3033+19A=)
n.852+19A=
c.5088+19A= (n.5088+19A=)
c.5148+19A= (n.5148+19A=)
c.5043+19A= (n.5043+19A=)
2g.26463948_26463959dupCA1562939OTOFc.5103+7_5103+18dup (n.5103+7_5103+18dup)
c.2802+7_2802+18dup (n.2802+7_2802+18dup)
c.2862+7_2862+18dup (n.2862+7_2862+18dup)
c.3033+7_3033+18dup (n.3033+7_3033+18dup)
n.852+7_852+18dup
c.5088+7_5088+18dup (n.5088+7_5088+18dup)
c.5148+7_5148+18dup (n.5148+7_5148+18dup)
c.5043+7_5043+18dup (n.5043+7_5043+18dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463947G>TCA2576698932OTOFc.5103+17C>A (n.5103+17C>A)
c.2802+17C>A (n.2802+17C>A)
c.2862+17C>A (n.2862+17C>A)
c.3033+17C>A (n.3033+17C>A)
n.852+17C>A
c.5088+17C>A (n.5088+17C>A)
c.5148+17C>A (n.5148+17C>A)
c.5043+17C>A (n.5043+17C>A)
2g.26463948G>CCA2658233704OTOFc.5103+16C>G (n.5103+16C>G)
c.2802+16C>G (n.2802+16C>G)
c.2862+16C>G (n.2862+16C>G)
c.3033+16C>G (n.3033+16C>G)
n.852+16C>G
c.5088+16C>G (n.5088+16C>G)
c.5148+16C>G (n.5148+16C>G)
c.5043+16C>G (n.5043+16C>G)
 gnomAD v4
2g.26463950C>TCA2658233706OTOFc.5103+14G>A (n.5103+14G>A)
c.2802+14G>A (n.2802+14G>A)
c.2862+14G>A (n.2862+14G>A)
c.3033+14G>A (n.3033+14G>A)
n.852+14G>A
c.5088+14G>A (n.5088+14G>A)
c.5148+14G>A (n.5148+14G>A)
c.5043+14G>A (n.5043+14G>A)
 gnomAD v4
2g.26463952_26463955dupCA2658233705OTOFc.5103+11_5103+14dup (n.5103+11_5103+14dup)
c.2802+11_2802+14dup (n.2802+11_2802+14dup)
c.2862+11_2862+14dup (n.2862+11_2862+14dup)
c.3033+11_3033+14dup (n.3033+11_3033+14dup)
n.852+11_852+14dup
c.5088+11_5088+14dup (n.5088+11_5088+14dup)
c.5148+11_5148+14dup (n.5148+11_5148+14dup)
c.5043+11_5043+14dup (n.5043+11_5043+14dup)
 gnomAD v4
2g.26463952T>CCA2658233708OTOFc.5103+12A>G (n.5103+12A>G)
c.2802+12A>G (n.2802+12A>G)
c.2862+12A>G (n.2862+12A>G)
c.3033+12A>G (n.3033+12A>G)
n.852+12A>G
c.5088+12A>G (n.5088+12A>G)
c.5148+12A>G (n.5148+12A>G)
c.5043+12A>G (n.5043+12A>G)
 gnomAD v4
2g.26463952T>GCA1562940OTOFc.5103+12A>C (n.5103+12A>C)
c.2802+12A>C (n.2802+12A>C)
c.2862+12A>C (n.2862+12A>C)
c.3033+12A>C (n.3033+12A>C)
n.852+12A>C
c.5088+12A>C (n.5088+12A>C)
c.5148+12A>C (n.5148+12A>C)
c.5043+12A>C (n.5043+12A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26463952T=CA1239814463OTOFc.5103+12A= (n.5103+12A=)
c.2802+12A= (n.2802+12A=)
c.2862+12A= (n.2862+12A=)
c.3033+12A= (n.3033+12A=)
n.852+12A=
c.5088+12A= (n.5088+12A=)
c.5148+12A= (n.5148+12A=)
c.5043+12A= (n.5043+12A=)
2g.26463953G>ACA2658233710OTOFc.5103+11C>T (n.5103+11C>T)
c.2802+11C>T (n.2802+11C>T)
c.2862+11C>T (n.2862+11C>T)
c.3033+11C>T (n.3033+11C>T)
n.852+11C>T
c.5088+11C>T (n.5088+11C>T)
c.5148+11C>T (n.5148+11C>T)
c.5043+11C>T (n.5043+11C>T)
 gnomAD v4
2g.26463954C>ACA1562941OTOFc.5103+10G>T (n.5103+10G>T)
c.2802+10G>T (n.2802+10G>T)
c.2862+10G>T (n.2862+10G>T)
c.3033+10G>T (n.3033+10G>T)
n.852+10G>T
c.5088+10G>T (n.5088+10G>T)
c.5148+10G>T (n.5148+10G>T)
c.5043+10G>T (n.5043+10G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463954C=CA1239814465OTOFc.5103+10G= (n.5103+10G=)
c.2802+10G= (n.2802+10G=)
c.2862+10G= (n.2862+10G=)
c.3033+10G= (n.3033+10G=)
n.852+10G=
c.5088+10G= (n.5088+10G=)
c.5148+10G= (n.5148+10G=)
c.5043+10G= (n.5043+10G=)
2g.26463954C>GCA2658233711OTOFc.5103+10G>C (n.5103+10G>C)
c.2802+10G>C (n.2802+10G>C)
c.2862+10G>C (n.2862+10G>C)
c.3033+10G>C (n.3033+10G>C)
n.852+10G>C
c.5088+10G>C (n.5088+10G>C)
c.5148+10G>C (n.5148+10G>C)
c.5043+10G>C (n.5043+10G>C)
 gnomAD v4
2g.26463955A=CA1239814471OTOFc.5103+9T= (n.5103+9T=)
c.2802+9T= (n.2802+9T=)
c.2862+9T= (n.2862+9T=)
c.3033+9T= (n.3033+9T=)
n.852+9T=
c.5088+9T= (n.5088+9T=)
c.5148+9T= (n.5148+9T=)
c.5043+9T= (n.5043+9T=)
2g.26463955A>CCA658795684OTOFc.5103+9T>G (n.5103+9T>G)
c.2802+9T>G (n.2802+9T>G)
c.2862+9T>G (n.2862+9T>G)
c.3033+9T>G (n.3033+9T>G)
n.852+9T>G
c.5088+9T>G (n.5088+9T>G)
c.5148+9T>G (n.5148+9T>G)
c.5043+9T>G (n.5043+9T>G)
 ClinVar dbSNP
2g.26463955A>GCA2576698933OTOFc.5103+9T>C (n.5103+9T>C)
c.2802+9T>C (n.2802+9T>C)
c.2862+9T>C (n.2862+9T>C)
c.3033+9T>C (n.3033+9T>C)
n.852+9T>C
c.5088+9T>C (n.5088+9T>C)
c.5148+9T>C (n.5148+9T>C)
c.5043+9T>C (n.5043+9T>C)
 gnomAD v4
2g.26463956A>GCA2658233720OTOFc.5103+8T>C (n.5103+8T>C)
c.2802+8T>C (n.2802+8T>C)
c.2862+8T>C (n.2862+8T>C)
c.3033+8T>C (n.3033+8T>C)
n.852+8T>C
c.5088+8T>C (n.5088+8T>C)
c.5148+8T>C (n.5148+8T>C)
c.5043+8T>C (n.5043+8T>C)
 gnomAD v4
2g.26463957G>ACA142925OTOFc.5103+7C>T (n.5103+7C>T)
c.2802+7C>T (n.2802+7C>T)
c.2862+7C>T (n.2862+7C>T)
c.3033+7C>T (n.3033+7C>T)
n.852+7C>T
c.5088+7C>T (n.5088+7C>T)
c.5148+7C>T (n.5148+7C>T)
c.5043+7C>T (n.5043+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463957G>CCA531395452OTOFc.5103+7C>G (n.5103+7C>G)
c.2802+7C>G (n.2802+7C>G)
c.2862+7C>G (n.2862+7C>G)
c.3033+7C>G (n.3033+7C>G)
n.852+7C>G
c.5088+7C>G (n.5088+7C>G)
c.5148+7C>G (n.5148+7C>G)
c.5043+7C>G (n.5043+7C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.26463957G=CA1239814476OTOFc.5103+7C= (n.5103+7C=)
c.2802+7C= (n.2802+7C=)
c.2862+7C= (n.2862+7C=)
c.3033+7C= (n.3033+7C=)
n.852+7C=
c.5088+7C= (n.5088+7C=)
c.5148+7C= (n.5148+7C=)
c.5043+7C= (n.5043+7C=)
2g.26463962A=CA1239814485OTOFc.5103+2T= (n.5103+2T=)
c.2802+2T= (n.2802+2T=)
c.2862+2T= (n.2862+2T=)
c.3033+2T= (n.3033+2T=)
n.852+2T=
c.5088+2T= (n.5088+2T=)
c.5148+2T= (n.5148+2T=)
c.5043+2T= (n.5043+2T=)
2g.26463962A>CCA346133638OTOFc.5103+2T>G (n.5103+2T>G)
c.2802+2T>G (n.2802+2T>G)
c.2862+2T>G (n.2862+2T>G)
c.3033+2T>G (n.3033+2T>G)
n.852+2T>G
c.5088+2T>G (n.5088+2T>G)
c.5148+2T>G (n.5148+2T>G)
c.5043+2T>G (n.5043+2T>G)
2g.26463962A>GCA346133639OTOFc.5103+2T>C (n.5103+2T>C)
c.2802+2T>C (n.2802+2T>C)
c.2862+2T>C (n.2862+2T>C)
c.3033+2T>C (n.3033+2T>C)
n.852+2T>C
c.5088+2T>C (n.5088+2T>C)
c.5148+2T>C (n.5148+2T>C)
c.5043+2T>C (n.5043+2T>C)
2g.26463962A>TCA346133640OTOFc.5103+2T>A (n.5103+2T>A)
c.2802+2T>A (n.2802+2T>A)
c.2862+2T>A (n.2862+2T>A)
c.3033+2T>A (n.3033+2T>A)
n.852+2T>A
c.5088+2T>A (n.5088+2T>A)
c.5148+2T>A (n.5148+2T>A)
c.5043+2T>A (n.5043+2T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26463963C>ACA346133641OTOFc.5103+1G>T (n.5103+1G>T)
c.2802+1G>T (n.2802+1G>T)
c.2862+1G>T (n.2862+1G>T)
c.3033+1G>T (n.3033+1G>T)
n.852+1G>T
c.5088+1G>T (n.5088+1G>T)
c.5148+1G>T (n.5148+1G>T)
c.5043+1G>T (n.5043+1G>T)
2g.26463963C>GCA346133642OTOFc.5103+1G>C (n.5103+1G>C)
c.2802+1G>C (n.2802+1G>C)
c.2862+1G>C (n.2862+1G>C)
c.3033+1G>C (n.3033+1G>C)
n.852+1G>C
c.5088+1G>C (n.5088+1G>C)
c.5148+1G>C (n.5148+1G>C)
c.5043+1G>C (n.5043+1G>C)
2g.26463963C>TCA346133643OTOFc.5103+1G>A (n.5103+1G>A)
c.2802+1G>A (n.2802+1G>A)
c.2862+1G>A (n.2862+1G>A)
c.3033+1G>A (n.3033+1G>A)
n.852+1G>A
c.5088+1G>A (n.5088+1G>A)
c.5148+1G>A (n.5148+1G>A)
c.5043+1G>A (n.5043+1G>A)
 gnomAD v4
2g.26463964C>ACA346133645OTOFc.5103G>T (p.Gln1701His)
c.2802G>T (p.Gln934His)
c.2862G>T (p.Gln954His)
c.3033G>T (p.Gln1011His)
n.852G>T
c.5088G>T (p.Gln1696His)
c.5148G>T (p.Gln1716His)
c.5043G>T (p.Gln1681His)
2g.26463964C>GCA346133644OTOFc.5103G>C (p.Gln1701His)
c.2802G>C (p.Gln934His)
c.2862G>C (p.Gln954His)
c.3033G>C (p.Gln1011His)
n.852G>C
c.5088G>C (p.Gln1696His)
c.5148G>C (p.Gln1716His)
c.5043G>C (p.Gln1681His)
2g.26463964C>TCA425207057OTOFc.5103G>A (p.Gln1701=)
c.2802G>A (p.Gln934=)
c.2862G>A (p.Gln954=)
c.3033G>A (p.Gln1011=)
n.852G>A
c.5088G>A (p.Gln1696=)
c.5148G>A (p.Gln1716=)
c.5043G>A (p.Gln1681=)
2g.26463965T>ACA346133647OTOFc.5102A>T (p.Gln1701Leu)
c.2801A>T (p.Gln934Leu)
c.2861A>T (p.Gln954Leu)
c.3032A>T (p.Gln1011Leu)
n.851A>T
c.5087A>T (p.Gln1696Leu)
c.5147A>T (p.Gln1716Leu)
c.5042A>T (p.Gln1681Leu)
2g.26463965T>CCA346133648OTOFc.5102A>G (p.Gln1701Arg)
c.2801A>G (p.Gln934Arg)
c.2861A>G (p.Gln954Arg)
c.3032A>G (p.Gln1011Arg)
n.851A>G
c.5087A>G (p.Gln1696Arg)
c.5147A>G (p.Gln1716Arg)
c.5042A>G (p.Gln1681Arg)
2g.26463965T>GCA346133651OTOFc.5102A>C (p.Gln1701Pro)
c.2801A>C (p.Gln934Pro)
c.2861A>C (p.Gln954Pro)
c.3032A>C (p.Gln1011Pro)
n.851A>C
c.5087A>C (p.Gln1696Pro)
c.5147A>C (p.Gln1716Pro)
c.5042A>C (p.Gln1681Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.26463965T=CA1239814492OTOFc.5102A= (p.Gln1701=)
c.2801A= (p.Gln934=)
c.2861A= (p.Gln954=)
c.3032A= (p.Gln1011=)
n.851A=
c.5087A= (p.Gln1696=)
c.5147A= (p.Gln1716=)
c.5042A= (p.Gln1681=)
2g.26463966G>ACA346133653OTOFc.5101C>T (p.Gln1701Ter)
c.2800C>T (p.Gln934Ter)
c.2860C>T (p.Gln954Ter)
c.3031C>T (p.Gln1011Ter)
n.850C>T
c.5086C>T (p.Gln1696Ter)
c.5146C>T (p.Gln1716Ter)
c.5041C>T (p.Gln1681Ter)
2g.26463966G>CCA346133654OTOFc.5101C>G (p.Gln1701Glu)
c.2800C>G (p.Gln934Glu)
c.2860C>G (p.Gln954Glu)
c.3031C>G (p.Gln1011Glu)
n.850C>G
c.5086C>G (p.Gln1696Glu)
c.5146C>G (p.Gln1716Glu)
c.5041C>G (p.Gln1681Glu)
2g.26463966G>TCA346133656OTOFc.5101C>A (p.Gln1701Lys)
c.2800C>A (p.Gln934Lys)
c.2860C>A (p.Gln954Lys)
c.3031C>A (p.Gln1011Lys)
n.850C>A
c.5086C>A (p.Gln1696Lys)
c.5146C>A (p.Gln1716Lys)
c.5041C>A (p.Gln1681Lys)
2g.26463967C>ACA346133659OTOFc.5100G>T (p.Glu1700Asp)
c.2799G>T (p.Glu933Asp)
c.2859G>T (p.Glu953Asp)
c.3030G>T (p.Glu1010Asp)
n.849G>T
c.5085G>T (p.Glu1695Asp)
c.5145G>T (p.Glu1715Asp)
c.5040G>T (p.Glu1680Asp)
2g.26463967C>GCA346133662OTOFc.5100G>C (p.Glu1700Asp)
c.2799G>C (p.Glu933Asp)
c.2859G>C (p.Glu953Asp)
c.3030G>C (p.Glu1010Asp)
n.849G>C
c.5085G>C (p.Glu1695Asp)
c.5145G>C (p.Glu1715Asp)
c.5040G>C (p.Glu1680Asp)
2g.26463967C>TCA425207058OTOFc.5100G>A (p.Glu1700=)
c.2799G>A (p.Glu933=)
c.2859G>A (p.Glu953=)
c.3030G>A (p.Glu1010=)
n.849G>A
c.5085G>A (p.Glu1695=)
c.5145G>A (p.Glu1715=)
c.5040G>A (p.Glu1680=)
2g.26463968T>ACA346133664OTOFc.5099A>T (p.Glu1700Val)
c.2798A>T (p.Glu933Val)
c.2858A>T (p.Glu953Val)
c.3029A>T (p.Glu1010Val)
n.848A>T
c.5084A>T (p.Glu1695Val)
c.5144A>T (p.Glu1715Val)
c.5039A>T (p.Glu1680Val)
2g.26463968T>CCA346133667OTOFc.5099A>G (p.Glu1700Gly)
c.2798A>G (p.Glu933Gly)
c.2858A>G (p.Glu953Gly)
c.3029A>G (p.Glu1010Gly)
n.848A>G
c.5084A>G (p.Glu1695Gly)
c.5144A>G (p.Glu1715Gly)
c.5039A>G (p.Glu1680Gly)
2g.26463968T>GCA346133668OTOFc.5099A>C (p.Glu1700Ala)
c.2798A>C (p.Glu933Ala)
c.2858A>C (p.Glu953Ala)
c.3029A>C (p.Glu1010Ala)
n.848A>C
c.5084A>C (p.Glu1695Ala)
c.5144A>C (p.Glu1715Ala)
c.5039A>C (p.Glu1680Ala)
2g.26463969C>ACA346133671OTOFc.5098G>T (p.Glu1700Ter)
c.2797G>T (p.Glu933Ter)
c.2857G>T (p.Glu953Ter)
c.3028G>T (p.Glu1010Ter)
n.847G>T
c.5083G>T (p.Glu1695Ter)
c.5143G>T (p.Glu1715Ter)
c.5038G>T (p.Glu1680Ter)
 gnomAD v4
2g.26463969C=CA1239814497OTOFc.5098G= (p.Glu1700=)
c.2797G= (p.Glu933=)
c.2857G= (p.Glu953=)
c.3028G= (p.Glu1010=)
n.847G=
c.5083G= (p.Glu1695=)
c.5143G= (p.Glu1715=)
c.5038G= (p.Glu1680=)
2g.26463969C>GCA345132OTOFc.5098G>C (p.Glu1700Gln)
c.2797G>C (p.Glu933Gln)
c.2857G>C (p.Glu953Gln)
c.3028G>C (p.Glu1010Gln)
n.847G>C
c.5083G>C (p.Glu1695Gln)
c.5143G>C (p.Glu1715Gln)
c.5038G>C (p.Glu1680Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463969C>TCA346133674OTOFc.5098G>A (p.Glu1700Lys)
c.2797G>A (p.Glu933Lys)
c.2857G>A (p.Glu953Lys)
c.3028G>A (p.Glu1010Lys)
n.847G>A
c.5083G>A (p.Glu1695Lys)
c.5143G>A (p.Glu1715Lys)
c.5038G>A (p.Glu1680Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.26463970G>ACA142923OTOFc.5097C>T (p.Ile1699=)
c.2796C>T (p.Ile932=)
c.2856C>T (p.Ile952=)
c.3027C>T (p.Ile1009=)
n.846C>T
c.5082C>T (p.Ile1694=)
c.5142C>T (p.Ile1714=)
c.5037C>T (p.Ile1679=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26463970G>CCA10614853OTOFc.5097C>G (p.Ile1699Met)
c.2796C>G (p.Ile932Met)
c.2856C>G (p.Ile952Met)
c.3027C>G (p.Ile1009Met)
n.846C>G
c.5082C>G (p.Ile1694Met)
c.5142C>G (p.Ile1714Met)
c.5037C>G (p.Ile1679Met)
 ClinVar dbSNP
2g.26463970G=CA1239814504OTOFc.5097C= (p.Ile1699=)
c.2796C= (p.Ile932=)
c.2856C= (p.Ile952=)
c.3027C= (p.Ile1009=)
n.846C=
c.5082C= (p.Ile1694=)
c.5142C= (p.Ile1714=)
c.5037C= (p.Ile1679=)
2g.26463970G>TCA425207059OTOFc.5097C>A (p.Ile1699=)
c.2796C>A (p.Ile932=)
c.2856C>A (p.Ile952=)
c.3027C>A (p.Ile1009=)
n.846C>A
c.5082C>A (p.Ile1694=)
c.5142C>A (p.Ile1714=)
c.5037C>A (p.Ile1679=)
2g.26463971A=CA1239814509OTOFc.5096T= (p.Ile1699=)
c.2795T= (p.Ile932=)
c.2855T= (p.Ile952=)
c.3026T= (p.Ile1009=)
n.845T=
c.5081T= (p.Ile1694=)
c.5141T= (p.Ile1714=)
c.5036T= (p.Ile1679=)
2g.26463971A>CCA346133677OTOFc.5096T>G (p.Ile1699Ser)
c.2795T>G (p.Ile932Ser)
c.2855T>G (p.Ile952Ser)
c.3026T>G (p.Ile1009Ser)
n.845T>G
c.5081T>G (p.Ile1694Ser)
c.5141T>G (p.Ile1714Ser)
c.5036T>G (p.Ile1679Ser)
2g.26463971A>GCA1562942OTOFc.5096T>C (p.Ile1699Thr)
c.2795T>C (p.Ile932Thr)
c.2855T>C (p.Ile952Thr)
c.3026T>C (p.Ile1009Thr)
n.845T>C
c.5081T>C (p.Ile1694Thr)
c.5141T>C (p.Ile1714Thr)
c.5036T>C (p.Ile1679Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26463971A>TCA346133679OTOFc.5096T>A (p.Ile1699Asn)
c.2795T>A (p.Ile932Asn)
c.2855T>A (p.Ile952Asn)
c.3026T>A (p.Ile1009Asn)
n.845T>A
c.5081T>A (p.Ile1694Asn)
c.5141T>A (p.Ile1714Asn)
c.5036T>A (p.Ile1679Asn)
 gnomAD v4
2g.26463972T>ACA346133684OTOFc.5095A>T (p.Ile1699Phe)
c.2794A>T (p.Ile932Phe)
c.2854A>T (p.Ile952Phe)
c.3025A>T (p.Ile1009Phe)
n.844A>T
c.5080A>T (p.Ile1694Phe)
c.5140A>T (p.Ile1714Phe)
c.5035A>T (p.Ile1679Phe)
2g.26463972T>CCA346133686OTOFc.5095A>G (p.Ile1699Val)
c.2794A>G (p.Ile932Val)
c.2854A>G (p.Ile952Val)
c.3025A>G (p.Ile1009Val)
n.844A>G
c.5080A>G (p.Ile1694Val)
c.5140A>G (p.Ile1714Val)
c.5035A>G (p.Ile1679Val)
 dbSNP gnomAD v3 gnomAD v4
2g.26463972T>GCA346133696OTOFc.5095A>C (p.Ile1699Leu)
c.2794A>C (p.Ile932Leu)
c.2854A>C (p.Ile952Leu)
c.3025A>C (p.Ile1009Leu)
n.844A>C
c.5080A>C (p.Ile1694Leu)
c.5140A>C (p.Ile1714Leu)
c.5035A>C (p.Ile1679Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26463972T=CA1239814512OTOFc.5095A= (p.Ile1699=)
c.2794A= (p.Ile932=)
c.2854A= (p.Ile952=)
c.3025A= (p.Ile1009=)
n.844A=
c.5080A= (p.Ile1694=)
c.5140A= (p.Ile1714=)
c.5035A= (p.Ile1679=)
2g.26463973G>ACA425207062OTOFc.5094C>T (p.Gly1698=)
c.2793C>T (p.Gly931=)
c.2853C>T (p.Gly951=)
c.3024C>T (p.Gly1008=)
n.843C>T
c.5079C>T (p.Gly1693=)
c.5139C>T (p.Gly1713=)
c.5034C>T (p.Gly1678=)
2g.26463973G>CCA425207061OTOFc.5094C>G (p.Gly1698=)
c.2793C>G (p.Gly931=)
c.2853C>G (p.Gly951=)
c.3024C>G (p.Gly1008=)
n.843C>G
c.5079C>G (p.Gly1693=)
c.5139C>G (p.Gly1713=)
c.5034C>G (p.Gly1678=)
2g.26463973G>TCA425207060OTOFc.5094C>A (p.Gly1698=)
c.2793C>A (p.Gly931=)
c.2853C>A (p.Gly951=)
c.3024C>A (p.Gly1008=)
n.843C>A
c.5079C>A (p.Gly1693=)
c.5139C>A (p.Gly1713=)
c.5034C>A (p.Gly1678=)
2g.26463973_26463974delinsGCCA1239814516OTOFc.5093_5094delinsGC (p.Gly1698=)
c.2792_2793delinsGC (p.Gly931=)
c.2852_2853delinsGC (p.Gly951=)
c.3023_3024delinsGC (p.Gly1008=)
n.842_843delinsGC
c.5078_5079delinsGC (p.Gly1693=)
c.5138_5139delinsGC (p.Gly1713=)
c.5033_5034delinsGC (p.Gly1678=)
2g.26463974C>ACA1562943OTOFc.5093G>T (p.Gly1698Val)
c.2792G>T (p.Gly931Val)
c.2852G>T (p.Gly951Val)
c.3023G>T (p.Gly1008Val)
n.842G>T
c.5078G>T (p.Gly1693Val)
c.5138G>T (p.Gly1713Val)
c.5033G>T (p.Gly1678Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463974C=CA1239814523OTOFc.5093G= (p.Gly1698=)
c.2792G= (p.Gly931=)
c.2852G= (p.Gly951=)
c.3023G= (p.Gly1008=)
n.842G=
c.5078G= (p.Gly1693=)
c.5138G= (p.Gly1713=)
c.5033G= (p.Gly1678=)
2g.26463974C>GCA346133698OTOFc.5093G>C (p.Gly1698Ala)
c.2792G>C (p.Gly931Ala)
c.2852G>C (p.Gly951Ala)
c.3023G>C (p.Gly1008Ala)
n.842G>C
c.5078G>C (p.Gly1693Ala)
c.5138G>C (p.Gly1713Ala)
c.5033G>C (p.Gly1678Ala)
2g.26463974C>TCA346133700OTOFc.5093G>A (p.Gly1698Asp)
c.2792G>A (p.Gly931Asp)
c.2852G>A (p.Gly951Asp)
c.3023G>A (p.Gly1008Asp)
n.842G>A
c.5078G>A (p.Gly1693Asp)
c.5138G>A (p.Gly1713Asp)
c.5033G>A (p.Gly1678Asp)
 gnomAD v4
2g.26463976delCA1239814521OTOFc.5093del (p.Gly1698AlafsTer?)
c.2792del (p.Gly931AlafsTer?)
c.2852del (p.Gly951AlafsTer?)
c.3023del (p.Gly1008AlafsTer?)
n.842del
c.5078del (p.Gly1693AlafsTer?)
c.5138del (p.Gly1713AlafsTer?)
c.5033del (p.Gly1678AlafsTer?)
 ClinVar gnomAD v4
2g.26463975C>ACA346133703OTOFc.5092G>T (p.Gly1698Cys)
c.2791G>T (p.Gly931Cys)
c.2851G>T (p.Gly951Cys)
c.3022G>T (p.Gly1008Cys)
n.841G>T
c.5077G>T (p.Gly1693Cys)
c.5137G>T (p.Gly1713Cys)
c.5032G>T (p.Gly1678Cys)
2g.26463975C>GCA346133706OTOFc.5092G>C (p.Gly1698Arg)
c.2791G>C (p.Gly931Arg)
c.2851G>C (p.Gly951Arg)
c.3022G>C (p.Gly1008Arg)
n.841G>C
c.5077G>C (p.Gly1693Arg)
c.5137G>C (p.Gly1713Arg)
c.5032G>C (p.Gly1678Arg)
2g.26463975C>TCA346133708OTOFc.5092G>A (p.Gly1698Ser)
c.2791G>A (p.Gly931Ser)
c.2851G>A (p.Gly951Ser)
c.3022G>A (p.Gly1008Ser)
n.841G>A
c.5077G>A (p.Gly1693Ser)
c.5137G>A (p.Gly1713Ser)
c.5032G>A (p.Gly1678Ser)
2g.26463976C>ACA425207066OTOFc.5091G>T (p.Pro1697=)
c.2790G>T (p.Pro930=)
c.2850G>T (p.Pro950=)
c.3021G>T (p.Pro1007=)
n.840G>T
c.5076G>T (p.Pro1692=)
c.5136G>T (p.Pro1712=)
c.5031G>T (p.Pro1677=)
2g.26463976C=CA1239814527OTOFc.5091G= (p.Pro1697=)
c.2790G= (p.Pro930=)
c.2850G= (p.Pro950=)
c.3021G= (p.Pro1007=)
n.840G=
c.5076G= (p.Pro1692=)
c.5136G= (p.Pro1712=)
c.5031G= (p.Pro1677=)
2g.26463976C>GCA425207067OTOFc.5091G>C (p.Pro1697=)
c.2790G>C (p.Pro930=)
c.2850G>C (p.Pro950=)
c.3021G>C (p.Pro1007=)
n.840G>C
c.5076G>C (p.Pro1692=)
c.5136G>C (p.Pro1712=)
c.5031G>C (p.Pro1677=)
2g.26463976C>TCA142921OTOFc.5091G>A (p.Pro1697=)
c.2790G>A (p.Pro930=)
c.2850G>A (p.Pro950=)
c.3021G>A (p.Pro1007=)
n.840G>A
c.5076G>A (p.Pro1692=)
c.5136G>A (p.Pro1712=)
c.5031G>A (p.Pro1677=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463977G>ACA346133713OTOFc.5090C>T (p.Pro1697Leu)
c.2789C>T (p.Pro930Leu)
c.2849C>T (p.Pro950Leu)
c.3020C>T (p.Pro1007Leu)
n.839C>T
c.5075C>T (p.Pro1692Leu)
c.5135C>T (p.Pro1712Leu)
c.5030C>T (p.Pro1677Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463977G>CCA346133716OTOFc.5090C>G (p.Pro1697Arg)
c.2789C>G (p.Pro930Arg)
c.2849C>G (p.Pro950Arg)
c.3020C>G (p.Pro1007Arg)
n.839C>G
c.5075C>G (p.Pro1692Arg)
c.5135C>G (p.Pro1712Arg)
c.5030C>G (p.Pro1677Arg)
2g.26463977G=CA1239814529OTOFc.5090C= (p.Pro1697=)
c.2789C= (p.Pro930=)
c.2849C= (p.Pro950=)
c.3020C= (p.Pro1007=)
n.839C=
c.5075C= (p.Pro1692=)
c.5135C= (p.Pro1712=)
c.5030C= (p.Pro1677=)
2g.26463977G>TCA346133719OTOFc.5090C>A (p.Pro1697Gln)
c.2789C>A (p.Pro930Gln)
c.2849C>A (p.Pro950Gln)
c.3020C>A (p.Pro1007Gln)
n.839C>A
c.5075C>A (p.Pro1692Gln)
c.5135C>A (p.Pro1712Gln)
c.5030C>A (p.Pro1677Gln)
2g.26463978G>ACA346133721OTOFc.5089C>T (p.Pro1697Ser)
c.2788C>T (p.Pro930Ser)
c.2848C>T (p.Pro950Ser)
c.3019C>T (p.Pro1007Ser)
n.838C>T
c.5074C>T (p.Pro1692Ser)
c.5134C>T (p.Pro1712Ser)
c.5029C>T (p.Pro1677Ser)
 dbSNP gnomAD v2
2g.26463978G>CCA346133724OTOFc.5089C>G (p.Pro1697Ala)
c.2788C>G (p.Pro930Ala)
c.2848C>G (p.Pro950Ala)
c.3019C>G (p.Pro1007Ala)
n.838C>G
c.5074C>G (p.Pro1692Ala)
c.5134C>G (p.Pro1712Ala)
c.5029C>G (p.Pro1677Ala)
2g.26463978G=CA1239814532OTOFc.5089C= (p.Pro1697=)
c.2788C= (p.Pro930=)
c.2848C= (p.Pro950=)
c.3019C= (p.Pro1007=)
n.838C=
c.5074C= (p.Pro1692=)
c.5134C= (p.Pro1712=)
c.5029C= (p.Pro1677=)
2g.26463978G>TCA44410793OTOFc.5089C>A (p.Pro1697Thr)
c.2788C>A (p.Pro930Thr)
c.2848C>A (p.Pro950Thr)
c.3019C>A (p.Pro1007Thr)
n.838C>A
c.5074C>A (p.Pro1692Thr)
c.5134C>A (p.Pro1712Thr)
c.5029C>A (p.Pro1677Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463979C>ACA346133727OTOFc.5088G>T (p.Lys1696Asn)
c.2787G>T (p.Lys929Asn)
c.2847G>T (p.Lys949Asn)
c.3018G>T (p.Lys1006Asn)
n.837G>T
c.5073G>T (p.Lys1691Asn)
c.5133G>T (p.Lys1711Asn)
c.5028G>T (p.Lys1676Asn)
2g.26463979C>GCA346133730OTOFc.5088G>C (p.Lys1696Asn)
c.2787G>C (p.Lys929Asn)
c.2847G>C (p.Lys949Asn)
c.3018G>C (p.Lys1006Asn)
n.837G>C
c.5073G>C (p.Lys1691Asn)
c.5133G>C (p.Lys1711Asn)
c.5028G>C (p.Lys1676Asn)
2g.26463979C>TCA425207071OTOFc.5088G>A (p.Lys1696=)
c.2787G>A (p.Lys929=)
c.2847G>A (p.Lys949=)
c.3018G>A (p.Lys1006=)
n.837G>A
c.5073G>A (p.Lys1691=)
c.5133G>A (p.Lys1711=)
c.5028G>A (p.Lys1676=)
2g.26463980T>ACA346133733OTOFc.5087A>T (p.Lys1696Met)
c.2786A>T (p.Lys929Met)
c.2846A>T (p.Lys949Met)
c.3017A>T (p.Lys1006Met)
n.836A>T
c.5072A>T (p.Lys1691Met)
c.5132A>T (p.Lys1711Met)
c.5027A>T (p.Lys1676Met)
2g.26463980T>CCA346133735OTOFc.5087A>G (p.Lys1696Arg)
c.2786A>G (p.Lys929Arg)
c.2846A>G (p.Lys949Arg)
c.3017A>G (p.Lys1006Arg)
n.836A>G
c.5072A>G (p.Lys1691Arg)
c.5132A>G (p.Lys1711Arg)
c.5027A>G (p.Lys1676Arg)
2g.26463980T>GCA346133736OTOFc.5087A>C (p.Lys1696Thr)
c.2786A>C (p.Lys929Thr)
c.2846A>C (p.Lys949Thr)
c.3017A>C (p.Lys1006Thr)
n.836A>C
c.5072A>C (p.Lys1691Thr)
c.5132A>C (p.Lys1711Thr)
c.5027A>C (p.Lys1676Thr)
2g.26463981T>ACA346133738OTOFc.5086A>T (p.Lys1696Ter)
c.2785A>T (p.Lys929Ter)
c.2845A>T (p.Lys949Ter)
c.3016A>T (p.Lys1006Ter)
n.835A>T
c.5071A>T (p.Lys1691Ter)
c.5131A>T (p.Lys1711Ter)
c.5026A>T (p.Lys1676Ter)
2g.26463981T>CCA346133739OTOFc.5086A>G (p.Lys1696Glu)
c.2785A>G (p.Lys929Glu)
c.2845A>G (p.Lys949Glu)
c.3016A>G (p.Lys1006Glu)
n.835A>G
c.5071A>G (p.Lys1691Glu)
c.5131A>G (p.Lys1711Glu)
c.5026A>G (p.Lys1676Glu)
2g.26463981T>GCA346133741OTOFc.5086A>C (p.Lys1696Gln)
c.2785A>C (p.Lys929Gln)
c.2845A>C (p.Lys949Gln)
c.3016A>C (p.Lys1006Gln)
n.835A>C
c.5071A>C (p.Lys1691Gln)
c.5131A>C (p.Lys1711Gln)
c.5026A>C (p.Lys1676Gln)
 gnomAD v4
2g.26463982G>ACA425207074OTOFc.5085C>T (p.Asp1695=)
c.2784C>T (p.Asp928=)
c.2844C>T (p.Asp948=)
c.3015C>T (p.Asp1005=)
n.834C>T
c.5070C>T (p.Asp1690=)
c.5130C>T (p.Asp1710=)
c.5025C>T (p.Asp1675=)
 dbSNP
2g.26463982G>CCA346133743OTOFc.5085C>G (p.Asp1695Glu)
c.2784C>G (p.Asp928Glu)
c.2844C>G (p.Asp948Glu)
c.3015C>G (p.Asp1005Glu)
n.834C>G
c.5070C>G (p.Asp1690Glu)
c.5130C>G (p.Asp1710Glu)
c.5025C>G (p.Asp1675Glu)
2g.26463982G>TCA346133746OTOFc.5085C>A (p.Asp1695Glu)
c.2784C>A (p.Asp928Glu)
c.2844C>A (p.Asp948Glu)
c.3015C>A (p.Asp1005Glu)
n.834C>A
c.5070C>A (p.Asp1690Glu)
c.5130C>A (p.Asp1710Glu)
c.5025C>A (p.Asp1675Glu)
2g.26463983T>ACA346133750OTOFc.5084A>T (p.Asp1695Val)
c.2783A>T (p.Asp928Val)
c.2843A>T (p.Asp948Val)
c.3014A>T (p.Asp1005Val)
n.833A>T
c.5069A>T (p.Asp1690Val)
c.5129A>T (p.Asp1710Val)
c.5024A>T (p.Asp1675Val)
2g.26463983T>CCA346133751OTOFc.5084A>G (p.Asp1695Gly)
c.2783A>G (p.Asp928Gly)
c.2843A>G (p.Asp948Gly)
c.3014A>G (p.Asp1005Gly)
n.833A>G
c.5069A>G (p.Asp1690Gly)
c.5129A>G (p.Asp1710Gly)
c.5024A>G (p.Asp1675Gly)
2g.26463983T>GCA346133748OTOFc.5084A>C (p.Asp1695Ala)
c.2783A>C (p.Asp928Ala)
c.2843A>C (p.Asp948Ala)
c.3014A>C (p.Asp1005Ala)
n.833A>C
c.5069A>C (p.Asp1690Ala)
c.5129A>C (p.Asp1710Ala)
c.5024A>C (p.Asp1675Ala)
2g.26463984C>ACA346133754OTOFc.5083G>T (p.Asp1695Tyr)
c.2782G>T (p.Asp928Tyr)
c.2842G>T (p.Asp948Tyr)
c.3013G>T (p.Asp1005Tyr)
n.832G>T
c.5068G>T (p.Asp1690Tyr)
c.5128G>T (p.Asp1710Tyr)
c.5023G>T (p.Asp1675Tyr)
 ClinVar dbSNP gnomAD v4
2g.26463984C=CA1239814541OTOFc.5083G= (p.Asp1695=)
c.2782G= (p.Asp928=)
c.2842G= (p.Asp948=)
c.3013G= (p.Asp1005=)
n.832G=
c.5068G= (p.Asp1690=)
c.5128G= (p.Asp1710=)
c.5023G= (p.Asp1675=)
2g.26463984C>GCA346133757OTOFc.5083G>C (p.Asp1695His)
c.2782G>C (p.Asp928His)
c.2842G>C (p.Asp948His)
c.3013G>C (p.Asp1005His)
n.832G>C
c.5068G>C (p.Asp1690His)
c.5128G>C (p.Asp1710His)
c.5023G>C (p.Asp1675His)
2g.26463984C>TCA1562944OTOFc.5083G>A (p.Asp1695Asn)
c.2782G>A (p.Asp928Asn)
c.2842G>A (p.Asp948Asn)
c.3013G>A (p.Asp1005Asn)
n.832G>A
c.5068G>A (p.Asp1690Asn)
c.5128G>A (p.Asp1710Asn)
c.5023G>A (p.Asp1675Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463985G>ACA1562945OTOFc.5082C>T (p.Pro1694=)
c.2781C>T (p.Pro927=)
c.2841C>T (p.Pro947=)
c.3012C>T (p.Pro1004=)
n.831C>T
c.5067C>T (p.Pro1689=)
c.5127C>T (p.Pro1709=)
c.5022C>T (p.Pro1674=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463985G>CCA425207076OTOFc.5082C>G (p.Pro1694=)
c.2781C>G (p.Pro927=)
c.2841C>G (p.Pro947=)
c.3012C>G (p.Pro1004=)
n.831C>G
c.5067C>G (p.Pro1689=)
c.5127C>G (p.Pro1709=)
c.5022C>G (p.Pro1674=)
2g.26463985G=CA1239814547OTOFc.5082C= (p.Pro1694=)
c.2781C= (p.Pro927=)
c.2841C= (p.Pro947=)
c.3012C= (p.Pro1004=)
n.831C=
c.5067C= (p.Pro1689=)
c.5127C= (p.Pro1709=)
c.5022C= (p.Pro1674=)
2g.26463985G>TCA425207077OTOFc.5082C>A (p.Pro1694=)
c.2781C>A (p.Pro927=)
c.2841C>A (p.Pro947=)
c.3012C>A (p.Pro1004=)
n.831C>A
c.5067C>A (p.Pro1689=)
c.5127C>A (p.Pro1709=)
c.5022C>A (p.Pro1674=)
2g.26463986G>ACA346133761OTOFc.5081C>T (p.Pro1694Leu)
c.2780C>T (p.Pro927Leu)
c.2840C>T (p.Pro947Leu)
c.3011C>T (p.Pro1004Leu)
n.830C>T
c.5066C>T (p.Pro1689Leu)
c.5126C>T (p.Pro1709Leu)
c.5021C>T (p.Pro1674Leu)
2g.26463986G>CCA346133766OTOFc.5081C>G (p.Pro1694Arg)
c.2780C>G (p.Pro927Arg)
c.2840C>G (p.Pro947Arg)
c.3011C>G (p.Pro1004Arg)
n.830C>G
c.5066C>G (p.Pro1689Arg)
c.5126C>G (p.Pro1709Arg)
c.5021C>G (p.Pro1674Arg)
2g.26463986G>TCA346133769OTOFc.5081C>A (p.Pro1694His)
c.2780C>A (p.Pro927His)
c.2840C>A (p.Pro947His)
c.3011C>A (p.Pro1004His)
n.830C>A
c.5066C>A (p.Pro1689His)
c.5126C>A (p.Pro1709His)
c.5021C>A (p.Pro1674His)
2g.26463987G>ACA346133782OTOFc.5080C>T (p.Pro1694Ser)
c.2779C>T (p.Pro927Ser)
c.2839C>T (p.Pro947Ser)
c.3010C>T (p.Pro1004Ser)
n.829C>T
c.5065C>T (p.Pro1689Ser)
c.5125C>T (p.Pro1709Ser)
c.5020C>T (p.Pro1674Ser)
2g.26463987G>CCA346133784OTOFc.5080C>G (p.Pro1694Ala)
c.2779C>G (p.Pro927Ala)
c.2839C>G (p.Pro947Ala)
c.3010C>G (p.Pro1004Ala)
n.829C>G
c.5065C>G (p.Pro1689Ala)
c.5125C>G (p.Pro1709Ala)
c.5020C>G (p.Pro1674Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463987G=CA1239814550OTOFc.5080C= (p.Pro1694=)
c.2779C= (p.Pro927=)
c.2839C= (p.Pro947=)
c.3010C= (p.Pro1004=)
n.829C=
c.5065C= (p.Pro1689=)
c.5125C= (p.Pro1709=)
c.5020C= (p.Pro1674=)
2g.26463987G>TCA346133788OTOFc.5080C>A (p.Pro1694Thr)
c.2779C>A (p.Pro927Thr)
c.2839C>A (p.Pro947Thr)
c.3010C>A (p.Pro1004Thr)
n.829C>A
c.5065C>A (p.Pro1689Thr)
c.5125C>A (p.Pro1709Thr)
c.5020C>A (p.Pro1674Thr)
2g.26463988G>ACA1562946OTOFc.5079C>T (p.Asn1693=)
c.2778C>T (p.Asn926=)
c.2838C>T (p.Asn946=)
c.3009C>T (p.Asn1003=)
n.828C>T
c.5064C>T (p.Asn1688=)
c.5124C>T (p.Asn1708=)
c.5019C>T (p.Asn1673=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26463988G>CCA346133795OTOFc.5079C>G (p.Asn1693Lys)
c.2778C>G (p.Asn926Lys)
c.2838C>G (p.Asn946Lys)
c.3009C>G (p.Asn1003Lys)
n.828C>G
c.5064C>G (p.Asn1688Lys)
c.5124C>G (p.Asn1708Lys)
c.5019C>G (p.Asn1673Lys)
2g.26463988G=CA1239814557OTOFc.5079C= (p.Asn1693=)
c.2778C= (p.Asn926=)
c.2838C= (p.Asn946=)
c.3009C= (p.Asn1003=)
n.828C=
c.5064C= (p.Asn1688=)
c.5124C= (p.Asn1708=)
c.5019C= (p.Asn1673=)
2g.26463988G>TCA346133797OTOFc.5079C>A (p.Asn1693Lys)
c.2778C>A (p.Asn926Lys)
c.2838C>A (p.Asn946Lys)
c.3009C>A (p.Asn1003Lys)
n.828C>A
c.5064C>A (p.Asn1688Lys)
c.5124C>A (p.Asn1708Lys)
c.5019C>A (p.Asn1673Lys)
 gnomAD v4
2g.26463989T>ACA346133809OTOFc.5078A>T (p.Asn1693Ile)
c.2777A>T (p.Asn926Ile)
c.2837A>T (p.Asn946Ile)
c.3008A>T (p.Asn1003Ile)
n.827A>T
c.5063A>T (p.Asn1688Ile)
c.5123A>T (p.Asn1708Ile)
c.5018A>T (p.Asn1673Ile)
2g.26463989T>CCA346133810OTOFc.5078A>G (p.Asn1693Ser)
c.2777A>G (p.Asn926Ser)
c.2837A>G (p.Asn946Ser)
c.3008A>G (p.Asn1003Ser)
n.827A>G
c.5063A>G (p.Asn1688Ser)
c.5123A>G (p.Asn1708Ser)
c.5018A>G (p.Asn1673Ser)
2g.26463989T>GCA346133806OTOFc.5078A>C (p.Asn1693Thr)
c.2777A>C (p.Asn926Thr)
c.2837A>C (p.Asn946Thr)
c.3008A>C (p.Asn1003Thr)
n.827A>C
c.5063A>C (p.Asn1688Thr)
c.5123A>C (p.Asn1708Thr)
c.5018A>C (p.Asn1673Thr)
2g.26463990T>ACA346133811OTOFc.5077A>T (p.Asn1693Tyr)
c.2776A>T (p.Asn926Tyr)
c.2836A>T (p.Asn946Tyr)
c.3007A>T (p.Asn1003Tyr)
n.826A>T
c.5062A>T (p.Asn1688Tyr)
c.5122A>T (p.Asn1708Tyr)
c.5017A>T (p.Asn1673Tyr)
2g.26463990T>CCA346133813OTOFc.5077A>G (p.Asn1693Asp)
c.2776A>G (p.Asn926Asp)
c.2836A>G (p.Asn946Asp)
c.3007A>G (p.Asn1003Asp)
n.826A>G
c.5062A>G (p.Asn1688Asp)
c.5122A>G (p.Asn1708Asp)
c.5017A>G (p.Asn1673Asp)
2g.26463990T>GCA346133814OTOFc.5077A>C (p.Asn1693His)
c.2776A>C (p.Asn926His)
c.2836A>C (p.Asn946His)
c.3007A>C (p.Asn1003His)
n.826A>C
c.5062A>C (p.Asn1688His)
c.5122A>C (p.Asn1708His)
c.5017A>C (p.Asn1673His)
2g.26463991G>ACA425207084OTOFc.5076C>T (p.Leu1692=)
c.2775C>T (p.Leu925=)
c.2835C>T (p.Leu945=)
c.3006C>T (p.Leu1002=)
n.825C>T
c.5061C>T (p.Leu1687=)
c.5121C>T (p.Leu1707=)
c.5016C>T (p.Leu1672=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463991G>CCA425207085OTOFc.5076C>G (p.Leu1692=)
c.2775C>G (p.Leu925=)
c.2835C>G (p.Leu945=)
c.3006C>G (p.Leu1002=)
n.825C>G
c.5061C>G (p.Leu1687=)
c.5121C>G (p.Leu1707=)
c.5016C>G (p.Leu1672=)
2g.26463991G=CA1239814560OTOFc.5076C= (p.Leu1692=)
c.2775C= (p.Leu925=)
c.2835C= (p.Leu945=)
c.3006C= (p.Leu1002=)
n.825C=
c.5061C= (p.Leu1687=)
c.5121C= (p.Leu1707=)
c.5016C= (p.Leu1672=)
2g.26463991G>TCA425207086OTOFc.5076C>A (p.Leu1692=)
c.2775C>A (p.Leu925=)
c.2835C>A (p.Leu945=)
c.3006C>A (p.Leu1002=)
n.825C>A
c.5061C>A (p.Leu1687=)
c.5121C>A (p.Leu1707=)
c.5016C>A (p.Leu1672=)
2g.26463992A>CCA346133816OTOFc.5075T>G (p.Leu1692Arg)
c.2774T>G (p.Leu925Arg)
c.2834T>G (p.Leu945Arg)
c.3005T>G (p.Leu1002Arg)
n.824T>G
c.5060T>G (p.Leu1687Arg)
c.5120T>G (p.Leu1707Arg)
c.5015T>G (p.Leu1672Arg)
2g.26463992A>GCA346133817OTOFc.5075T>C (p.Leu1692Pro)
c.2774T>C (p.Leu925Pro)
c.2834T>C (p.Leu945Pro)
c.3005T>C (p.Leu1002Pro)
n.824T>C
c.5060T>C (p.Leu1687Pro)
c.5120T>C (p.Leu1707Pro)
c.5015T>C (p.Leu1672Pro)
2g.26463992A>TCA346133818OTOFc.5075T>A (p.Leu1692His)
c.2774T>A (p.Leu925His)
c.2834T>A (p.Leu945His)
c.3005T>A (p.Leu1002His)
n.824T>A
c.5060T>A (p.Leu1687His)
c.5120T>A (p.Leu1707His)
c.5015T>A (p.Leu1672His)
2g.26463993G>ACA346133824OTOFc.5074C>T (p.Leu1692Phe)
c.2773C>T (p.Leu925Phe)
c.2833C>T (p.Leu945Phe)
c.3004C>T (p.Leu1002Phe)
n.823C>T
c.5059C>T (p.Leu1687Phe)
c.5119C>T (p.Leu1707Phe)
c.5014C>T (p.Leu1672Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26463993G>CCA346133820OTOFc.5074C>G (p.Leu1692Val)
c.2773C>G (p.Leu925Val)
c.2833C>G (p.Leu945Val)
c.3004C>G (p.Leu1002Val)
n.823C>G
c.5059C>G (p.Leu1687Val)
c.5119C>G (p.Leu1707Val)
c.5014C>G (p.Leu1672Val)
2g.26463993G=CA1239814563OTOFc.5074C= (p.Leu1692=)
c.2773C= (p.Leu925=)
c.2833C= (p.Leu945=)
c.3004C= (p.Leu1002=)
n.823C=
c.5059C= (p.Leu1687=)
c.5119C= (p.Leu1707=)
c.5014C= (p.Leu1672=)
2g.26463993G>TCA346133822OTOFc.5074C>A (p.Leu1692Ile)
c.2773C>A (p.Leu925Ile)
c.2833C>A (p.Leu945Ile)
c.3004C>A (p.Leu1002Ile)
n.823C>A
c.5059C>A (p.Leu1687Ile)
c.5119C>A (p.Leu1707Ile)
c.5014C>A (p.Leu1672Ile)
2g.26463994C>ACA425207087OTOFc.5073G>T (p.Leu1691=)
c.2772G>T (p.Leu924=)
c.2832G>T (p.Leu944=)
c.3003G>T (p.Leu1001=)
n.822G>T
c.5058G>T (p.Leu1686=)
c.5118G>T (p.Leu1706=)
c.5013G>T (p.Leu1671=)
2g.26463994C>GCA425207088OTOFc.5073G>C (p.Leu1691=)
c.2772G>C (p.Leu924=)
c.2832G>C (p.Leu944=)
c.3003G>C (p.Leu1001=)
n.822G>C
c.5058G>C (p.Leu1686=)
c.5118G>C (p.Leu1706=)
c.5013G>C (p.Leu1671=)
2g.26463994C>TCA425207090OTOFc.5073G>A (p.Leu1691=)
c.2772G>A (p.Leu924=)
c.2832G>A (p.Leu944=)
c.3003G>A (p.Leu1001=)
n.822G>A
c.5058G>A (p.Leu1686=)
c.5118G>A (p.Leu1706=)
c.5013G>A (p.Leu1671=)
2g.26463995A=CA1239814566OTOFc.5072T= (p.Leu1691=)
c.2771T= (p.Leu924=)
c.2831T= (p.Leu944=)
c.3002T= (p.Leu1001=)
n.821T=
c.5057T= (p.Leu1686=)
c.5117T= (p.Leu1706=)
c.5012T= (p.Leu1671=)
2g.26463995A>CCA346133825OTOFc.5072T>G (p.Leu1691Arg)
c.2771T>G (p.Leu924Arg)
c.2831T>G (p.Leu944Arg)
c.3002T>G (p.Leu1001Arg)
n.821T>G
c.5057T>G (p.Leu1686Arg)
c.5117T>G (p.Leu1706Arg)
c.5012T>G (p.Leu1671Arg)
2g.26463995A>GCA346133826OTOFc.5072T>C (p.Leu1691Pro)
c.2771T>C (p.Leu924Pro)
c.2831T>C (p.Leu944Pro)
c.3002T>C (p.Leu1001Pro)
n.821T>C
c.5057T>C (p.Leu1686Pro)
c.5117T>C (p.Leu1706Pro)
c.5012T>C (p.Leu1671Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.26463995A>TCA346133827OTOFc.5072T>A (p.Leu1691Gln)
c.2771T>A (p.Leu924Gln)
c.2831T>A (p.Leu944Gln)
c.3002T>A (p.Leu1001Gln)
n.821T>A
c.5057T>A (p.Leu1686Gln)
c.5117T>A (p.Leu1706Gln)
c.5012T>A (p.Leu1671Gln)
2g.26463996G>ACA425207093OTOFc.5071C>T (p.Leu1691=)
c.2770C>T (p.Leu924=)
c.2830C>T (p.Leu944=)
c.3001C>T (p.Leu1001=)
n.820C>T
c.5056C>T (p.Leu1686=)
c.5116C>T (p.Leu1706=)
c.5011C>T (p.Leu1671=)
2g.26463996G>CCA346133829OTOFc.5071C>G (p.Leu1691Val)
c.2770C>G (p.Leu924Val)
c.2830C>G (p.Leu944Val)
c.3001C>G (p.Leu1001Val)
n.820C>G
c.5056C>G (p.Leu1686Val)
c.5116C>G (p.Leu1706Val)
c.5011C>G (p.Leu1671Val)
 dbSNP
2g.26463996G=CA1239814571OTOFc.5071C= (p.Leu1691=)
c.2770C= (p.Leu924=)
c.2830C= (p.Leu944=)
c.3001C= (p.Leu1001=)
n.820C=
c.5056C= (p.Leu1686=)
c.5116C= (p.Leu1706=)
c.5011C= (p.Leu1671=)
2g.26463996G>TCA346133831OTOFc.5071C>A (p.Leu1691Met)
c.2770C>A (p.Leu924Met)
c.2830C>A (p.Leu944Met)
c.3001C>A (p.Leu1001Met)
n.820C>A
c.5056C>A (p.Leu1686Met)
c.5116C>A (p.Leu1706Met)
c.5011C>A (p.Leu1671Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26463997C>ACA425207094OTOFc.5070G>T (p.Pro1690=)
c.2769G>T (p.Pro923=)
c.2829G>T (p.Pro943=)
c.3000G>T (p.Pro1000=)
n.819G>T
c.5055G>T (p.Pro1685=)
c.5115G>T (p.Pro1705=)
c.5010G>T (p.Pro1670=)
 gnomAD v4
2g.26463997C=CA1239814579OTOFc.5070G= (p.Pro1690=)
c.2769G= (p.Pro923=)
c.2829G= (p.Pro943=)
c.3000G= (p.Pro1000=)
n.819G=
c.5055G= (p.Pro1685=)
c.5115G= (p.Pro1705=)
c.5010G= (p.Pro1670=)
2g.26463997C>GCA425207095OTOFc.5070G>C (p.Pro1690=)
c.2769G>C (p.Pro923=)
c.2829G>C (p.Pro943=)
c.3000G>C (p.Pro1000=)
n.819G>C
c.5055G>C (p.Pro1685=)
c.5115G>C (p.Pro1705=)
c.5010G>C (p.Pro1670=)
2g.26463997C>TCA44410817OTOFc.5070G>A (p.Pro1690=)
c.2769G>A (p.Pro923=)
c.2829G>A (p.Pro943=)
c.3000G>A (p.Pro1000=)
n.819G>A
c.5055G>A (p.Pro1685=)
c.5115G>A (p.Pro1705=)
c.5010G>A (p.Pro1670=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26463998G>ACA1562947OTOFc.5069C>T (p.Pro1690Leu)
c.2768C>T (p.Pro923Leu)
c.2828C>T (p.Pro943Leu)
c.2999C>T (p.Pro1000Leu)
n.818C>T
c.5054C>T (p.Pro1685Leu)
c.5114C>T (p.Pro1705Leu)
c.5009C>T (p.Pro1670Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26463998G>CCA346133834OTOFc.5069C>G (p.Pro1690Arg)
c.2768C>G (p.Pro923Arg)
c.2828C>G (p.Pro943Arg)
c.2999C>G (p.Pro1000Arg)
n.818C>G
c.5054C>G (p.Pro1685Arg)
c.5114C>G (p.Pro1705Arg)
c.5009C>G (p.Pro1670Arg)
2g.26463998G=CA1239814582OTOFc.5069C= (p.Pro1690=)
c.2768C= (p.Pro923=)
c.2828C= (p.Pro943=)
c.2999C= (p.Pro1000=)
n.818C=
c.5054C= (p.Pro1685=)
c.5114C= (p.Pro1705=)
c.5009C= (p.Pro1670=)
2g.26463998G>TCA346133833OTOFc.5069C>A (p.Pro1690Gln)
c.2768C>A (p.Pro923Gln)
c.2828C>A (p.Pro943Gln)
c.2999C>A (p.Pro1000Gln)
n.818C>A
c.5054C>A (p.Pro1685Gln)
c.5114C>A (p.Pro1705Gln)
c.5009C>A (p.Pro1670Gln)
2g.26463999G>ACA346133836OTOFc.5068C>T (p.Pro1690Ser)
c.2767C>T (p.Pro923Ser)
c.2827C>T (p.Pro943Ser)
c.2998C>T (p.Pro1000Ser)
n.817C>T
c.5053C>T (p.Pro1685Ser)
c.5113C>T (p.Pro1705Ser)
c.5008C>T (p.Pro1670Ser)
2g.26463999G>CCA1562948OTOFc.5068C>G (p.Pro1690Ala)
c.2767C>G (p.Pro923Ala)
c.2827C>G (p.Pro943Ala)
c.2998C>G (p.Pro1000Ala)
n.817C>G
c.5053C>G (p.Pro1685Ala)
c.5113C>G (p.Pro1705Ala)
c.5008C>G (p.Pro1670Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26463999G=CA1239814585OTOFc.5068C= (p.Pro1690=)
c.2767C= (p.Pro923=)
c.2827C= (p.Pro943=)
c.2998C= (p.Pro1000=)
n.817C=
c.5053C= (p.Pro1685=)
c.5113C= (p.Pro1705=)
c.5008C= (p.Pro1670=)
2g.26463999G>TCA346133838OTOFc.5068C>A (p.Pro1690Thr)
c.2767C>A (p.Pro923Thr)
c.2827C>A (p.Pro943Thr)
c.2998C>A (p.Pro1000Thr)
n.817C>A
c.5053C>A (p.Pro1685Thr)
c.5113C>A (p.Pro1705Thr)
c.5008C>A (p.Pro1670Thr)
 gnomAD v4
2g.26464000C>ACA346133840OTOFc.5067G>T (p.Arg1689Ser)
c.2766G>T (p.Arg922Ser)
c.2826G>T (p.Arg942Ser)
c.2997G>T (p.Arg999Ser)
n.816G>T
c.5052G>T (p.Arg1684Ser)
c.5112G>T (p.Arg1704Ser)
c.5007G>T (p.Arg1669Ser)
2g.26464000C=CA1239814590OTOFc.5067G= (p.Arg1689=)
c.2766G= (p.Arg922=)
c.2826G= (p.Arg942=)
c.2997G= (p.Arg999=)
n.816G=
c.5052G= (p.Arg1684=)
c.5112G= (p.Arg1704=)
c.5007G= (p.Arg1669=)
2g.26464000C>GCA346133841OTOFc.5067G>C (p.Arg1689Ser)
c.2766G>C (p.Arg922Ser)
c.2826G>C (p.Arg942Ser)
c.2997G>C (p.Arg999Ser)
n.816G>C
c.5052G>C (p.Arg1684Ser)
c.5112G>C (p.Arg1704Ser)
c.5007G>C (p.Arg1669Ser)
2g.26464000C>TCA1562949OTOFc.5067G>A (p.Arg1689=)
c.2766G>A (p.Arg922=)
c.2826G>A (p.Arg942=)
c.2997G>A (p.Arg999=)
n.816G>A
c.5052G>A (p.Arg1684=)
c.5112G>A (p.Arg1704=)
c.5007G>A (p.Arg1669=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26464001delCA2658233751OTOFc.5067del (p.Arg1689SerfsTer?)
c.2766del (p.Arg922SerfsTer?)
c.2826del (p.Arg942SerfsTer?)
c.2997del (p.Arg999SerfsTer?)
n.816del
c.5052del (p.Arg1684SerfsTer?)
c.5112del (p.Arg1704SerfsTer?)
c.5007del (p.Arg1669SerfsTer?)
 gnomAD v4
2g.26464001C>ACA346133844OTOFc.5066G>T (p.Arg1689Met)
c.2765G>T (p.Arg922Met)
c.2825G>T (p.Arg942Met)
c.2996G>T (p.Arg999Met)
n.815G>T
c.5051G>T (p.Arg1684Met)
c.5111G>T (p.Arg1704Met)
c.5006G>T (p.Arg1669Met)
2g.26464001C>GCA346133845OTOFc.5066G>C (p.Arg1689Thr)
c.2765G>C (p.Arg922Thr)
c.2825G>C (p.Arg942Thr)
c.2996G>C (p.Arg999Thr)
n.815G>C
c.5051G>C (p.Arg1684Thr)
c.5111G>C (p.Arg1704Thr)
c.5006G>C (p.Arg1669Thr)
2g.26464001C>TCA346133847OTOFc.5066G>A (p.Arg1689Lys)
c.2765G>A (p.Arg922Lys)
c.2825G>A (p.Arg942Lys)
c.2996G>A (p.Arg999Lys)
n.815G>A
c.5051G>A (p.Arg1684Lys)
c.5111G>A (p.Arg1704Lys)
c.5006G>A (p.Arg1669Lys)
2g.26464002T>ACA346133849OTOFc.5065A>T (p.Arg1689Trp)
c.2764A>T (p.Arg922Trp)
c.2824A>T (p.Arg942Trp)
c.2995A>T (p.Arg999Trp)
n.814A>T
c.5050A>T (p.Arg1684Trp)
c.5110A>T (p.Arg1704Trp)
c.5005A>T (p.Arg1669Trp)
2g.26464002T>CCA346133848OTOFc.5065A>G (p.Arg1689Gly)
c.2764A>G (p.Arg922Gly)
c.2824A>G (p.Arg942Gly)
c.2995A>G (p.Arg999Gly)
n.814A>G
c.5050A>G (p.Arg1684Gly)
c.5110A>G (p.Arg1704Gly)
c.5005A>G (p.Arg1669Gly)
 gnomAD v4
2g.26464002T>GCA425207102OTOFc.5065A>C (p.Arg1689=)
c.2764A>C (p.Arg922=)
c.2824A>C (p.Arg942=)
c.2995A>C (p.Arg999=)
n.814A>C
c.5050A>C (p.Arg1684=)
c.5110A>C (p.Arg1704=)
c.5005A>C (p.Arg1669=)
2g.26464003C>ACA425207103OTOFc.5064G>T (p.Thr1688=)
c.2763G>T (p.Thr921=)
c.2823G>T (p.Thr941=)
c.2994G>T (p.Thr998=)
n.813G>T
c.5049G>T (p.Thr1683=)
c.5109G>T (p.Thr1703=)
c.5004G>T (p.Thr1668=)
2g.26464003C=CA1239814594OTOFc.5064G= (p.Thr1688=)
c.2763G= (p.Thr921=)
c.2823G= (p.Thr941=)
c.2994G= (p.Thr998=)
n.813G=
c.5049G= (p.Thr1683=)
c.5109G= (p.Thr1703=)
c.5004G= (p.Thr1668=)
2g.26464003C>GCA425207104OTOFc.5064G>C (p.Thr1688=)
c.2763G>C (p.Thr921=)
c.2823G>C (p.Thr941=)
c.2994G>C (p.Thr998=)
n.813G>C
c.5049G>C (p.Thr1683=)
c.5109G>C (p.Thr1703=)
c.5004G>C (p.Thr1668=)
2g.26464003C>TCA425207105OTOFc.5064G>A (p.Thr1688=)
c.2763G>A (p.Thr921=)
c.2823G>A (p.Thr941=)
c.2994G>A (p.Thr998=)
n.813G>A
c.5049G>A (p.Thr1683=)
c.5109G>A (p.Thr1703=)
c.5004G>A (p.Thr1668=)
 ClinVar dbSNP gnomAD v4
2g.26464004G>ACA142917OTOFc.5063C>T (p.Thr1688Met)
c.2762C>T (p.Thr921Met)
c.2822C>T (p.Thr941Met)
c.2993C>T (p.Thr998Met)
n.812C>T
c.5048C>T (p.Thr1683Met)
c.5108C>T (p.Thr1703Met)
c.5003C>T (p.Thr1668Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26464004G>CCA346133851OTOFc.5063C>G (p.Thr1688Arg)
c.2762C>G (p.Thr921Arg)
c.2822C>G (p.Thr941Arg)
c.2993C>G (p.Thr998Arg)
n.812C>G
c.5048C>G (p.Thr1683Arg)
c.5108C>G (p.Thr1703Arg)
c.5003C>G (p.Thr1668Arg)
2g.26464004G=CA1239814605OTOFc.5063C= (p.Thr1688=)
c.2762C= (p.Thr921=)
c.2822C= (p.Thr941=)
c.2993C= (p.Thr998=)
n.812C=
c.5048C= (p.Thr1683=)
c.5108C= (p.Thr1703=)
c.5003C= (p.Thr1668=)
2g.26464004G>TCA346133853OTOFc.5063C>A (p.Thr1688Lys)
c.2762C>A (p.Thr921Lys)
c.2822C>A (p.Thr941Lys)
c.2993C>A (p.Thr998Lys)
n.812C>A
c.5048C>A (p.Thr1683Lys)
c.5108C>A (p.Thr1703Lys)
c.5003C>A (p.Thr1668Lys)
2g.26464005T>ACA346133854OTOFc.5062A>T (p.Thr1688Ser)
c.2761A>T (p.Thr921Ser)
c.2821A>T (p.Thr941Ser)
c.2992A>T (p.Thr998Ser)
n.811A>T
c.5047A>T (p.Thr1683Ser)
c.5107A>T (p.Thr1703Ser)
c.5002A>T (p.Thr1668Ser)
2g.26464005T>CCA346133855OTOFc.5062A>G (p.Thr1688Ala)
c.2761A>G (p.Thr921Ala)
c.2821A>G (p.Thr941Ala)
c.2992A>G (p.Thr998Ala)
n.811A>G
c.5047A>G (p.Thr1683Ala)
c.5107A>G (p.Thr1703Ala)
c.5002A>G (p.Thr1668Ala)
2g.26464005T>GCA346133856OTOFc.5062A>C (p.Thr1688Pro)
c.2761A>C (p.Thr921Pro)
c.2821A>C (p.Thr941Pro)
c.2992A>C (p.Thr998Pro)
n.811A>C
c.5047A>C (p.Thr1683Pro)
c.5107A>C (p.Thr1703Pro)
c.5002A>C (p.Thr1668Pro)
2g.26464006C>ACA346133859OTOFc.5061G>T (p.Glu1687Asp)
c.2760G>T (p.Glu920Asp)
c.2820G>T (p.Glu940Asp)
c.2991G>T (p.Glu997Asp)
n.810G>T
c.5046G>T (p.Glu1682Asp)
c.5106G>T (p.Glu1702Asp)
c.5001G>T (p.Glu1667Asp)
2g.26464006C=CA1239814612OTOFc.5061G= (p.Glu1687=)
c.2760G= (p.Glu920=)
c.2820G= (p.Glu940=)
c.2991G= (p.Glu997=)
n.810G=
c.5046G= (p.Glu1682=)
c.5106G= (p.Glu1702=)
c.5001G= (p.Glu1667=)
2g.26464006C>GCA346133857OTOFc.5061G>C (p.Glu1687Asp)
c.2760G>C (p.Glu920Asp)
c.2820G>C (p.Glu940Asp)
c.2991G>C (p.Glu997Asp)
n.810G>C
c.5046G>C (p.Glu1682Asp)
c.5106G>C (p.Glu1702Asp)
c.5001G>C (p.Glu1667Asp)
2g.26464006C>TCA1562950OTOFc.5061G>A (p.Glu1687=)
c.2760G>A (p.Glu920=)
c.2820G>A (p.Glu940=)
c.2991G>A (p.Glu997=)
n.810G>A
c.5046G>A (p.Glu1682=)
c.5106G>A (p.Glu1702=)
c.5001G>A (p.Glu1667=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26464007T>ACA346133860OTOFc.5060A>T (p.Glu1687Val)
c.2759A>T (p.Glu920Val)
c.2819A>T (p.Glu940Val)
c.2990A>T (p.Glu997Val)
n.809A>T
c.5045A>T (p.Glu1682Val)
c.5105A>T (p.Glu1702Val)
c.5000A>T (p.Glu1667Val)
2g.26464007T>CCA346133862OTOFc.5060A>G (p.Glu1687Gly)
c.2759A>G (p.Glu920Gly)
c.2819A>G (p.Glu940Gly)
c.2990A>G (p.Glu997Gly)
n.809A>G
c.5045A>G (p.Glu1682Gly)
c.5105A>G (p.Glu1702Gly)
c.5000A>G (p.Glu1667Gly)
2g.26464007T>GCA346133863OTOFc.5060A>C (p.Glu1687Ala)
c.2759A>C (p.Glu920Ala)
c.2819A>C (p.Glu940Ala)
c.2990A>C (p.Glu997Ala)
n.809A>C
c.5045A>C (p.Glu1682Ala)
c.5105A>C (p.Glu1702Ala)
c.5000A>C (p.Glu1667Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.26464007T=CA1239814620OTOFc.5060A= (p.Glu1687=)
c.2759A= (p.Glu920=)
c.2819A= (p.Glu940=)
c.2990A= (p.Glu997=)
n.809A=
c.5045A= (p.Glu1682=)
c.5105A= (p.Glu1702=)
c.5000A= (p.Glu1667=)
2g.26464008C>ACA346133865OTOFc.5059G>T (p.Glu1687Ter)
c.2758G>T (p.Glu920Ter)
c.2818G>T (p.Glu940Ter)
c.2989G>T (p.Glu997Ter)
n.808G>T
c.5044G>T (p.Glu1682Ter)
c.5104G>T (p.Glu1702Ter)
c.4999G>T (p.Glu1667Ter)
2g.26464008C=CA1239814624OTOFc.5059G= (p.Glu1687=)
c.2758G= (p.Glu920=)
c.2818G= (p.Glu940=)
c.2989G= (p.Glu997=)
n.808G=
c.5044G= (p.Glu1682=)
c.5104G= (p.Glu1702=)
c.4999G= (p.Glu1667=)
2g.26464008C>GCA346133867OTOFc.5059G>C (p.Glu1687Gln)
c.2758G>C (p.Glu920Gln)
c.2818G>C (p.Glu940Gln)
c.2989G>C (p.Glu997Gln)
n.808G>C
c.5044G>C (p.Glu1682Gln)
c.5104G>C (p.Glu1702Gln)
c.4999G>C (p.Glu1667Gln)
2g.26464008C>TCA346133869OTOFc.5059G>A (p.Glu1687Lys)
c.2758G>A (p.Glu920Lys)
c.2818G>A (p.Glu940Lys)
c.2989G>A (p.Glu997Lys)
n.808G>A
c.5044G>A (p.Glu1682Lys)
c.5104G>A (p.Glu1702Lys)
c.4999G>A (p.Glu1667Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.26464009C>ACA425207108OTOFc.5058G>T (p.Val1686=)
c.2757G>T (p.Val919=)
c.2817G>T (p.Val939=)
c.2988G>T (p.Val996=)
n.807G>T
c.5043G>T (p.Val1681=)
c.5103G>T (p.Val1701=)
c.4998G>T (p.Val1666=)
2g.26464009C>GCA425207109OTOFc.5058G>C (p.Val1686=)
c.2757G>C (p.Val919=)
c.2817G>C (p.Val939=)
c.2988G>C (p.Val996=)
n.807G>C
c.5043G>C (p.Val1681=)
c.5103G>C (p.Val1701=)
c.4998G>C (p.Val1666=)
2g.26464009C>TCA425207110OTOFc.5058G>A (p.Val1686=)
c.2757G>A (p.Val919=)
c.2817G>A (p.Val939=)
c.2988G>A (p.Val996=)
n.807G>A
c.5043G>A (p.Val1681=)
c.5103G>A (p.Val1701=)
c.4998G>A (p.Val1666=)
2g.26464010A>CCA346133871OTOFc.5057T>G (p.Val1686Gly)
c.2756T>G (p.Val919Gly)
c.2816T>G (p.Val939Gly)
c.2987T>G (p.Val996Gly)
n.806T>G
c.5042T>G (p.Val1681Gly)
c.5102T>G (p.Val1701Gly)
c.4997T>G (p.Val1666Gly)
2g.26464010A>GCA346133873OTOFc.5057T>C (p.Val1686Ala)
c.2756T>C (p.Val919Ala)
c.2816T>C (p.Val939Ala)
c.2987T>C (p.Val996Ala)
n.806T>C
c.5042T>C (p.Val1681Ala)
c.5102T>C (p.Val1701Ala)
c.4997T>C (p.Val1666Ala)
2g.26464010A>TCA346133874OTOFc.5057T>A (p.Val1686Glu)
c.2756T>A (p.Val919Glu)
c.2816T>A (p.Val939Glu)
c.2987T>A (p.Val996Glu)
n.806T>A
c.5042T>A (p.Val1681Glu)
c.5102T>A (p.Val1701Glu)
c.4997T>A (p.Val1666Glu)
2g.26464011C>ACA346133878OTOFc.5056G>T (p.Val1686Leu)
c.2755G>T (p.Val919Leu)
c.2815G>T (p.Val939Leu)
c.2986G>T (p.Val996Leu)
n.805G>T
c.5041G>T (p.Val1681Leu)
c.5101G>T (p.Val1701Leu)
c.4996G>T (p.Val1666Leu)
2g.26464011C=CA1239814627OTOFc.5056G= (p.Val1686=)
c.2755G= (p.Val919=)
c.2815G= (p.Val939=)
c.2986G= (p.Val996=)
n.805G=
c.5041G= (p.Val1681=)
c.5101G= (p.Val1701=)
c.4996G= (p.Val1666=)
2g.26464011C>GCA346133879OTOFc.5056G>C (p.Val1686Leu)
c.2755G>C (p.Val919Leu)
c.2815G>C (p.Val939Leu)
c.2986G>C (p.Val996Leu)
n.805G>C
c.5041G>C (p.Val1681Leu)
c.5101G>C (p.Val1701Leu)
c.4996G>C (p.Val1666Leu)
2g.26464011C>TCA346133883OTOFc.5056G>A (p.Val1686Met)
c.2755G>A (p.Val919Met)
c.2815G>A (p.Val939Met)
c.2986G>A (p.Val996Met)
n.805G>A
c.5041G>A (p.Val1681Met)
c.5101G>A (p.Val1701Met)
c.4996G>A (p.Val1666Met)
 dbSNP gnomAD v2 gnomAD v4
2g.26464012A=CA1239814632OTOFc.5055T= (p.His1685=)
c.2754T= (p.His918=)
c.2814T= (p.His938=)
c.2985T= (p.His995=)
n.804T=
c.5040T= (p.His1680=)
c.5100T= (p.His1700=)
c.4995T= (p.His1665=)
2g.26464012A>CCA346133886OTOFc.5055T>G (p.His1685Gln)
c.2754T>G (p.His918Gln)
c.2814T>G (p.His938Gln)
c.2985T>G (p.His995Gln)
n.804T>G
c.5040T>G (p.His1680Gln)
c.5100T>G (p.His1700Gln)
c.4995T>G (p.His1665Gln)
2g.26464012A>GCA1562951OTOFc.5055T>C (p.His1685=)
c.2754T>C (p.His918=)
c.2814T>C (p.His938=)
c.2985T>C (p.His995=)
n.804T>C
c.5040T>C (p.His1680=)
c.5100T>C (p.His1700=)
c.4995T>C (p.His1665=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26464012A>TCA346133889OTOFc.5055T>A (p.His1685Gln)
c.2754T>A (p.His918Gln)
c.2814T>A (p.His938Gln)
c.2985T>A (p.His995Gln)
n.804T>A
c.5040T>A (p.His1680Gln)
c.5100T>A (p.His1700Gln)
c.4995T>A (p.His1665Gln)
2g.26464013T>ACA346133893OTOFc.5054A>T (p.His1685Leu)
c.2753A>T (p.His918Leu)
c.2813A>T (p.His938Leu)
c.2984A>T (p.His995Leu)
n.803A>T
c.5039A>T (p.His1680Leu)
c.5099A>T (p.His1700Leu)
c.4994A>T (p.His1665Leu)
2g.26464013T>CCA346133895OTOFc.5054A>G (p.His1685Arg)
c.2753A>G (p.His918Arg)
c.2813A>G (p.His938Arg)
c.2984A>G (p.His995Arg)
n.803A>G
c.5039A>G (p.His1680Arg)
c.5099A>G (p.His1700Arg)
c.4994A>G (p.His1665Arg)
2g.26464013T>GCA346133899OTOFc.5054A>C (p.His1685Pro)
c.2753A>C (p.His918Pro)
c.2813A>C (p.His938Pro)
c.2984A>C (p.His995Pro)
n.803A>C
c.5039A>C (p.His1680Pro)
c.5099A>C (p.His1700Pro)
c.4994A>C (p.His1665Pro)
2g.26464014G>ACA346133901OTOFc.5053C>T (p.His1685Tyr)
c.2752C>T (p.His918Tyr)
c.2812C>T (p.His938Tyr)
c.2983C>T (p.His995Tyr)
n.802C>T
c.5038C>T (p.His1680Tyr)
c.5098C>T (p.His1700Tyr)
c.4993C>T (p.His1665Tyr)
2g.26464014G>CCA346133903OTOFc.5053C>G (p.His1685Asp)
c.2752C>G (p.His918Asp)
c.2812C>G (p.His938Asp)
c.2983C>G (p.His995Asp)
n.802C>G
c.5038C>G (p.His1680Asp)
c.5098C>G (p.His1700Asp)
c.4993C>G (p.His1665Asp)
2g.26464014G>TCA346133905OTOFc.5053C>A (p.His1685Asn)
c.2752C>A (p.His918Asn)
c.2812C>A (p.His938Asn)
c.2983C>A (p.His995Asn)
n.802C>A
c.5038C>A (p.His1680Asn)
c.5098C>A (p.His1700Asn)
c.4993C>A (p.His1665Asn)
2g.26464015C>ACA346133908OTOFc.5052G>T (p.Glu1684Asp)
c.2751G>T (p.Glu917Asp)
c.2811G>T (p.Glu937Asp)
c.2982G>T (p.Glu994Asp)
n.801G>T
c.5037G>T (p.Glu1679Asp)
c.5097G>T (p.Glu1699Asp)
c.4992G>T (p.Glu1664Asp)
2g.26464015C=CA1239814636OTOFc.5052G= (p.Glu1684=)
c.2751G= (p.Glu917=)
c.2811G= (p.Glu937=)
c.2982G= (p.Glu994=)
n.801G=
c.5037G= (p.Glu1679=)
c.5097G= (p.Glu1699=)
c.4992G= (p.Glu1664=)
2g.26464015C>GCA346133909OTOFc.5052G>C (p.Glu1684Asp)
c.2751G>C (p.Glu917Asp)
c.2811G>C (p.Glu937Asp)
c.2982G>C (p.Glu994Asp)
n.801G>C
c.5037G>C (p.Glu1679Asp)
c.5097G>C (p.Glu1699Asp)
c.4992G>C (p.Glu1664Asp)
 gnomAD v4
2g.26464015C>TCA425207111OTOFc.5052G>A (p.Glu1684=)
c.2751G>A (p.Glu917=)
c.2811G>A (p.Glu937=)
c.2982G>A (p.Glu994=)
n.801G>A
c.5037G>A (p.Glu1679=)
c.5097G>A (p.Glu1699=)
c.4992G>A (p.Glu1664=)
 dbSNP
2g.26464016T>ACA346133912OTOFc.5051A>T (p.Glu1684Val)
c.2750A>T (p.Glu917Val)
c.2810A>T (p.Glu937Val)
c.2981A>T (p.Glu994Val)
n.800A>T
c.5036A>T (p.Glu1679Val)
c.5096A>T (p.Glu1699Val)
c.4991A>T (p.Glu1664Val)
2g.26464016T>CCA346133915OTOFc.5051A>G (p.Glu1684Gly)
c.2750A>G (p.Glu917Gly)
c.2810A>G (p.Glu937Gly)
c.2981A>G (p.Glu994Gly)
n.800A>G
c.5036A>G (p.Glu1679Gly)
c.5096A>G (p.Glu1699Gly)
c.4991A>G (p.Glu1664Gly)
2g.26464016T>GCA346133918OTOFc.5051A>C (p.Glu1684Ala)
c.2750A>C (p.Glu917Ala)
c.2810A>C (p.Glu937Ala)
c.2981A>C (p.Glu994Ala)
n.800A>C
c.5036A>C (p.Glu1679Ala)
c.5096A>C (p.Glu1699Ala)
c.4991A>C (p.Glu1664Ala)
 gnomAD v4
2g.26464017C>ACA346133923OTOFc.5050G>T (p.Glu1684Ter)
c.2749G>T (p.Glu917Ter)
c.2809G>T (p.Glu937Ter)
c.2980G>T (p.Glu994Ter)
n.799G>T
c.5035G>T (p.Glu1679Ter)
c.5095G>T (p.Glu1699Ter)
c.4990G>T (p.Glu1664Ter)
2g.26464017C=CA1239814637OTOFc.5050G= (p.Glu1684=)
c.2749G= (p.Glu917=)
c.2809G= (p.Glu937=)
c.2980G= (p.Glu994=)
n.799G=
c.5035G= (p.Glu1679=)
c.5095G= (p.Glu1699=)
c.4990G= (p.Glu1664=)
2g.26464017C>GCA346133922OTOFc.5050G>C (p.Glu1684Gln)
c.2749G>C (p.Glu917Gln)
c.2809G>C (p.Glu937Gln)
c.2980G>C (p.Glu994Gln)
n.799G>C
c.5035G>C (p.Glu1679Gln)
c.5095G>C (p.Glu1699Gln)
c.4990G>C (p.Glu1664Gln)
 gnomAD v4
2g.26464017C>TCA44410849OTOFc.5050G>A (p.Glu1684Lys)
c.2749G>A (p.Glu917Lys)
c.2809G>A (p.Glu937Lys)
c.2980G>A (p.Glu994Lys)
n.799G>A
c.5035G>A (p.Glu1679Lys)
c.5095G>A (p.Glu1699Lys)
c.4990G>A (p.Glu1664Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.26464018T>ACA425207113OTOFc.5049A>T (p.Pro1683=)
c.2748A>T (p.Pro916=)
c.2808A>T (p.Pro936=)
c.2979A>T (p.Pro993=)
n.798A>T
c.5034A>T (p.Pro1678=)
c.5094A>T (p.Pro1698=)
c.4989A>T (p.Pro1663=)
2g.26464018T>CCA425207115OTOFc.5049A>G (p.Pro1683=)
c.2748A>G (p.Pro916=)
c.2808A>G (p.Pro936=)
c.2979A>G (p.Pro993=)
n.798A>G
c.5034A>G (p.Pro1678=)
c.5094A>G (p.Pro1698=)
c.4989A>G (p.Pro1663=)
2g.26464018T>GCA425207114OTOFc.5049A>C (p.Pro1683=)
c.2748A>C (p.Pro916=)
c.2808A>C (p.Pro936=)
c.2979A>C (p.Pro993=)
n.798A>C
c.5034A>C (p.Pro1678=)
c.5094A>C (p.Pro1698=)
c.4989A>C (p.Pro1663=)
2g.26464019G>ACA346133925OTOFc.5048C>T (p.Pro1683Leu)
c.2747C>T (p.Pro916Leu)
c.2807C>T (p.Pro936Leu)
c.2978C>T (p.Pro993Leu)
n.797C>T
c.5033C>T (p.Pro1678Leu)
c.5093C>T (p.Pro1698Leu)
c.4988C>T (p.Pro1663Leu)
2g.26464019G>CCA346133927OTOFc.5048C>G (p.Pro1683Arg)
c.2747C>G (p.Pro916Arg)
c.2807C>G (p.Pro936Arg)
c.2978C>G (p.Pro993Arg)
n.797C>G
c.5033C>G (p.Pro1678Arg)
c.5093C>G (p.Pro1698Arg)
c.4988C>G (p.Pro1663Arg)
2g.26464019G=CA1239814639OTOFc.5048C= (p.Pro1683=)
c.2747C= (p.Pro916=)
c.2807C= (p.Pro936=)
c.2978C= (p.Pro993=)
n.797C=
c.5033C= (p.Pro1678=)
c.5093C= (p.Pro1698=)
c.4988C= (p.Pro1663=)
2g.26464019G>TCA346133929OTOFc.5048C>A (p.Pro1683Gln)
c.2747C>A (p.Pro916Gln)
c.2807C>A (p.Pro936Gln)
c.2978C>A (p.Pro993Gln)
n.797C>A
c.5033C>A (p.Pro1678Gln)
c.5093C>A (p.Pro1698Gln)
c.4988C>A (p.Pro1663Gln)
 dbSNP

Number of alleles fetched