Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26477356_26477366delinsGTGACACCTTCCA1239829928OTOFc.2406+50_2406+60delinsGAAGGTGTCAC (n.2406+50_2406+60delinsGAAGGTGTCAC)
c.165+50_165+60delinsGAAGGTGTCAC (n.165+50_165+60delinsGAAGGTGTCAC)
c.336+50_336+60delinsGAAGGTGTCAC (n.336+50_336+60delinsGAAGGTGTCAC)
c.2451+50_2451+60delinsGAAGGTGTCAC (n.2451+50_2451+60delinsGAAGGTGTCAC)
2g.26477358_26477367delCA1239829929OTOFc.2406+50_2406+59del (n.2406+50_2406+59del)
c.165+50_165+59del (n.165+50_165+59del)
c.336+50_336+59del (n.336+50_336+59del)
c.2451+50_2451+59del (n.2451+50_2451+59del)
 dbSNP
2g.26477366C>GCA2658237923OTOFc.2406+50G>C (n.2406+50G>C)
c.165+50G>C (n.165+50G>C)
c.336+50G>C (n.336+50G>C)
c.2451+50G>C (n.2451+50G>C)
 gnomAD v4
2g.26477368C>ACA2658237924OTOFc.2406+48G>T (n.2406+48G>T)
c.165+48G>T (n.165+48G>T)
c.336+48G>T (n.336+48G>T)
c.2451+48G>T (n.2451+48G>T)
 gnomAD v4
2g.26477368C=CA1239829939OTOFc.2406+48G= (n.2406+48G=)
c.165+48G= (n.165+48G=)
c.336+48G= (n.336+48G=)
c.2451+48G= (n.2451+48G=)
2g.26477368C>GCA1239829940OTOFc.2406+48G>C (n.2406+48G>C)
c.165+48G>C (n.165+48G>C)
c.336+48G>C (n.336+48G>C)
c.2451+48G>C (n.2451+48G>C)
 dbSNP
2g.26477368C>TCA1563920OTOFc.2406+48G>A (n.2406+48G>A)
c.165+48G>A (n.165+48G>A)
c.336+48G>A (n.336+48G>A)
c.2451+48G>A (n.2451+48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477369A=CA1239829943OTOFc.2406+47T= (n.2406+47T=)
c.165+47T= (n.165+47T=)
c.336+47T= (n.336+47T=)
c.2451+47T= (n.2451+47T=)
2g.26477369A>CCA2658237925OTOFc.2406+47T>G (n.2406+47T>G)
c.165+47T>G (n.165+47T>G)
c.336+47T>G (n.336+47T>G)
c.2451+47T>G (n.2451+47T>G)
 gnomAD v4
2g.26477369A>TCA1563921OTOFc.2406+47T>A (n.2406+47T>A)
c.165+47T>A (n.165+47T>A)
c.336+47T>A (n.336+47T>A)
c.2451+47T>A (n.2451+47T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477370C>ACA531761847OTOFc.2406+46G>T (n.2406+46G>T)
c.165+46G>T (n.165+46G>T)
c.336+46G>T (n.336+46G>T)
c.2451+46G>T (n.2451+46G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.26477370C=CA1239829945OTOFc.2406+46G= (n.2406+46G=)
c.165+46G= (n.165+46G=)
c.336+46G= (n.336+46G=)
c.2451+46G= (n.2451+46G=)
2g.26477370C>TCA531761845OTOFc.2406+46G>A (n.2406+46G>A)
c.165+46G>A (n.165+46G>A)
c.336+46G>A (n.336+46G>A)
c.2451+46G>A (n.2451+46G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477372A>GCA2698921013OTOFc.2406+44T>C (n.2406+44T>C)
c.165+44T>C (n.165+44T>C)
c.336+44T>C (n.336+44T>C)
c.2451+44T>C (n.2451+44T>C)
 dbSNP
2g.26477373C>ACA2658237926OTOFc.2406+43G>T (n.2406+43G>T)
c.165+43G>T (n.165+43G>T)
c.336+43G>T (n.336+43G>T)
c.2451+43G>T (n.2451+43G>T)
 gnomAD v4
2g.26477373C=CA1239829948OTOFc.2406+43G= (n.2406+43G=)
c.165+43G= (n.165+43G=)
c.336+43G= (n.336+43G=)
c.2451+43G= (n.2451+43G=)
2g.26477373C>GCA1563922OTOFc.2406+43G>C (n.2406+43G>C)
c.165+43G>C (n.165+43G>C)
c.336+43G>C (n.336+43G>C)
c.2451+43G>C (n.2451+43G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477374C>ACA2658237927OTOFc.2406+42G>T (n.2406+42G>T)
c.165+42G>T (n.165+42G>T)
c.336+42G>T (n.336+42G>T)
c.2451+42G>T (n.2451+42G>T)
 gnomAD v4
2g.26477374C=CA1239829951OTOFc.2406+42G= (n.2406+42G=)
c.165+42G= (n.165+42G=)
c.336+42G= (n.336+42G=)
c.2451+42G= (n.2451+42G=)
2g.26477374C>GCA1239829952OTOFc.2406+42G>C (n.2406+42G>C)
c.165+42G>C (n.165+42G>C)
c.336+42G>C (n.336+42G>C)
c.2451+42G>C (n.2451+42G>C)
 dbSNP gnomAD v4
2g.26477374C>TCA2658237928OTOFc.2406+42G>A (n.2406+42G>A)
c.165+42G>A (n.165+42G>A)
c.336+42G>A (n.336+42G>A)
c.2451+42G>A (n.2451+42G>A)
 gnomAD v4
2g.26477376G>ACA1563923OTOFc.2406+40C>T (n.2406+40C>T)
c.165+40C>T (n.165+40C>T)
c.336+40C>T (n.336+40C>T)
c.2451+40C>T (n.2451+40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477376G=CA1239829953OTOFc.2406+40C= (n.2406+40C=)
c.165+40C= (n.165+40C=)
c.336+40C= (n.336+40C=)
c.2451+40C= (n.2451+40C=)
2g.26477377G>CCA2658237929OTOFc.2406+39C>G (n.2406+39C>G)
c.165+39C>G (n.165+39C>G)
c.336+39C>G (n.336+39C>G)
c.2451+39C>G (n.2451+39C>G)
 gnomAD v4
2g.26477378C>ACA2658237930OTOFc.2406+38G>T (n.2406+38G>T)
c.165+38G>T (n.165+38G>T)
c.336+38G>T (n.336+38G>T)
c.2451+38G>T (n.2451+38G>T)
 gnomAD v4
2g.26477378C=CA1239829985OTOFc.2406+38G= (n.2406+38G=)
c.165+38G= (n.165+38G=)
c.336+38G= (n.336+38G=)
c.2451+38G= (n.2451+38G=)
2g.26477378C>GCA2698800449OTOFc.2406+38G>C (n.2406+38G>C)
c.165+38G>C (n.165+38G>C)
c.336+38G>C (n.336+38G>C)
c.2451+38G>C (n.2451+38G>C)
 dbSNP
2g.26477378C>TCA531761851OTOFc.2406+38G>A (n.2406+38G>A)
c.165+38G>A (n.165+38G>A)
c.336+38G>A (n.336+38G>A)
c.2451+38G>A (n.2451+38G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477379C=CA1239829988OTOFc.2406+37G= (n.2406+37G=)
c.165+37G= (n.165+37G=)
c.336+37G= (n.336+37G=)
c.2451+37G= (n.2451+37G=)
2g.26477379C>GCA531761853OTOFc.2406+37G>C (n.2406+37G>C)
c.165+37G>C (n.165+37G>C)
c.336+37G>C (n.336+37G>C)
c.2451+37G>C (n.2451+37G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26477380C>ACA2581758126OTOFc.2406+36G>T (n.2406+36G>T)
c.165+36G>T (n.165+36G>T)
c.336+36G>T (n.336+36G>T)
c.2451+36G>T (n.2451+36G>T)
2g.26477380C=CA1239829992OTOFc.2406+36G= (n.2406+36G=)
c.165+36G= (n.165+36G=)
c.336+36G= (n.336+36G=)
c.2451+36G= (n.2451+36G=)
2g.26477380C>GCA2576699506OTOFc.2406+36G>C (n.2406+36G>C)
c.165+36G>C (n.165+36G>C)
c.336+36G>C (n.336+36G>C)
c.2451+36G>C (n.2451+36G>C)
 gnomAD v4
2g.26477380C>TCA1563924OTOFc.2406+36G>A (n.2406+36G>A)
c.165+36G>A (n.165+36G>A)
c.336+36G>A (n.336+36G>A)
c.2451+36G>A (n.2451+36G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477384dupCA2576699507OTOFc.2406+34dup (n.2406+34dup)
c.165+34dup (n.165+34dup)
c.336+34dup (n.336+34dup)
c.2451+34dup (n.2451+34dup)
2g.26477383C>ACA2658237931OTOFc.2406+33G>T (n.2406+33G>T)
c.165+33G>T (n.165+33G>T)
c.336+33G>T (n.336+33G>T)
c.2451+33G>T (n.2451+33G>T)
 gnomAD v4
2g.26477384C>ACA2658237932OTOFc.2406+32G>T (n.2406+32G>T)
c.165+32G>T (n.165+32G>T)
c.336+32G>T (n.336+32G>T)
c.2451+32G>T (n.2451+32G>T)
 gnomAD v4
2g.26477384C=CA1239829996OTOFc.2406+32G= (n.2406+32G=)
c.165+32G= (n.165+32G=)
c.336+32G= (n.336+32G=)
c.2451+32G= (n.2451+32G=)
2g.26477384C>TCA1028608286OTOFc.2406+32G>A (n.2406+32G>A)
c.165+32G>A (n.165+32G>A)
c.336+32G>A (n.336+32G>A)
c.2451+32G>A (n.2451+32G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.26477387C=CA1239829999OTOFc.2406+29G= (n.2406+29G=)
c.165+29G= (n.165+29G=)
c.336+29G= (n.336+29G=)
c.2451+29G= (n.2451+29G=)
2g.26477387C>TCA1563925OTOFc.2406+29G>A (n.2406+29G>A)
c.165+29G>A (n.165+29G>A)
c.336+29G>A (n.336+29G>A)
c.2451+29G>A (n.2451+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477388A=CA1239830002OTOFc.2406+28T= (n.2406+28T=)
c.165+28T= (n.165+28T=)
c.336+28T= (n.336+28T=)
c.2451+28T= (n.2451+28T=)
2g.26477388A>CCA44398430OTOFc.2406+28T>G (n.2406+28T>G)
c.165+28T>G (n.165+28T>G)
c.336+28T>G (n.336+28T>G)
c.2451+28T>G (n.2451+28T>G)
 dbSNP
2g.26477388A>GCA2658237933OTOFc.2406+28T>C (n.2406+28T>C)
c.165+28T>C (n.165+28T>C)
c.336+28T>C (n.336+28T>C)
c.2451+28T>C (n.2451+28T>C)
 gnomAD v4
2g.26477389G>ACA1563926OTOFc.2406+27C>T (n.2406+27C>T)
c.165+27C>T (n.165+27C>T)
c.336+27C>T (n.336+27C>T)
c.2451+27C>T (n.2451+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477389G=CA1239830006OTOFc.2406+27C= (n.2406+27C=)
c.165+27C= (n.165+27C=)
c.336+27C= (n.336+27C=)
c.2451+27C= (n.2451+27C=)
2g.26477389G>TCA2658237934OTOFc.2406+27C>A (n.2406+27C>A)
c.165+27C>A (n.165+27C>A)
c.336+27C>A (n.336+27C>A)
c.2451+27C>A (n.2451+27C>A)
 gnomAD v4
2g.26477390C>ACA2658237936OTOFc.2406+26G>T (n.2406+26G>T)
c.165+26G>T (n.165+26G>T)
c.336+26G>T (n.336+26G>T)
c.2451+26G>T (n.2451+26G>T)
 gnomAD v4
2g.26477390C=CA1239830007OTOFc.2406+26G= (n.2406+26G=)
c.165+26G= (n.165+26G=)
c.336+26G= (n.336+26G=)
c.2451+26G= (n.2451+26G=)
2g.26477390C>GCA531761855OTOFc.2406+26G>C (n.2406+26G>C)
c.165+26G>C (n.165+26G>C)
c.336+26G>C (n.336+26G>C)
c.2451+26G>C (n.2451+26G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26477390C>TCA2562720205OTOFc.2406+26G>A (n.2406+26G>A)
c.165+26G>A (n.165+26G>A)
c.336+26G>A (n.336+26G>A)
c.2451+26G>A (n.2451+26G>A)
 dbSNP gnomAD v4
2g.26477394delCA2658237935OTOFc.2406+26del (n.2406+26del)
c.165+26del (n.165+26del)
c.336+26del (n.336+26del)
c.2451+26del (n.2451+26del)
 gnomAD v4
2g.26477391C>ACA2658237937OTOFc.2406+25G>T (n.2406+25G>T)
c.165+25G>T (n.165+25G>T)
c.336+25G>T (n.336+25G>T)
c.2451+25G>T (n.2451+25G>T)
 gnomAD v4
2g.26477391C=CA1239830009OTOFc.2406+25G= (n.2406+25G=)
c.165+25G= (n.165+25G=)
c.336+25G= (n.336+25G=)
c.2451+25G= (n.2451+25G=)
2g.26477391C>GCA1563927OTOFc.2406+25G>C (n.2406+25G>C)
c.165+25G>C (n.165+25G>C)
c.336+25G>C (n.336+25G>C)
c.2451+25G>C (n.2451+25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477392C>ACA1563928OTOFc.2406+24G>T (n.2406+24G>T)
c.165+24G>T (n.165+24G>T)
c.336+24G>T (n.336+24G>T)
c.2451+24G>T (n.2451+24G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477392C=CA1239830011OTOFc.2406+24G= (n.2406+24G=)
c.165+24G= (n.165+24G=)
c.336+24G= (n.336+24G=)
c.2451+24G= (n.2451+24G=)
2g.26477393C>ACA2658237938OTOFc.2406+23G>T (n.2406+23G>T)
c.165+23G>T (n.165+23G>T)
c.336+23G>T (n.336+23G>T)
c.2451+23G>T (n.2451+23G>T)
 gnomAD v4
2g.26477394C>ACA2658237939OTOFc.2406+22G>T (n.2406+22G>T)
c.165+22G>T (n.165+22G>T)
c.336+22G>T (n.336+22G>T)
c.2451+22G>T (n.2451+22G>T)
 gnomAD v4
2g.26477394C=CA1239830013OTOFc.2406+22G= (n.2406+22G=)
c.165+22G= (n.165+22G=)
c.336+22G= (n.336+22G=)
c.2451+22G= (n.2451+22G=)
2g.26477394C>TCA531761857OTOFc.2406+22G>A (n.2406+22G>A)
c.165+22G>A (n.165+22G>A)
c.336+22G>A (n.336+22G>A)
c.2451+22G>A (n.2451+22G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.26477395G>ACA1563929OTOFc.2406+21C>T (n.2406+21C>T)
c.165+21C>T (n.165+21C>T)
c.336+21C>T (n.336+21C>T)
c.2451+21C>T (n.2451+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477395G=CA1239830015OTOFc.2406+21C= (n.2406+21C=)
c.165+21C= (n.165+21C=)
c.336+21C= (n.336+21C=)
c.2451+21C= (n.2451+21C=)
2g.26477395G>TCA2658237940OTOFc.2406+21C>A (n.2406+21C>A)
c.165+21C>A (n.165+21C>A)
c.336+21C>A (n.336+21C>A)
c.2451+21C>A (n.2451+21C>A)
 gnomAD v4
2g.26477396C>ACA2658237941OTOFc.2406+20G>T (n.2406+20G>T)
c.165+20G>T (n.165+20G>T)
c.336+20G>T (n.336+20G>T)
c.2451+20G>T (n.2451+20G>T)
 gnomAD v4
2g.26477396C>TCA2658237942OTOFc.2406+20G>A (n.2406+20G>A)
c.165+20G>A (n.165+20G>A)
c.336+20G>A (n.336+20G>A)
c.2451+20G>A (n.2451+20G>A)
 gnomAD v4
2g.26477397C>ACA2658237943OTOFc.2406+19G>T (n.2406+19G>T)
c.165+19G>T (n.165+19G>T)
c.336+19G>T (n.336+19G>T)
c.2451+19G>T (n.2451+19G>T)
 gnomAD v4
2g.26477397C=CA1239830017OTOFc.2406+19G= (n.2406+19G=)
c.165+19G= (n.165+19G=)
c.336+19G= (n.336+19G=)
c.2451+19G= (n.2451+19G=)
2g.26477397C>TCA1563930OTOFc.2406+19G>A (n.2406+19G>A)
c.165+19G>A (n.165+19G>A)
c.336+19G>A (n.336+19G>A)
c.2451+19G>A (n.2451+19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477398G>ACA1563931OTOFc.2406+18C>T (n.2406+18C>T)
c.165+18C>T (n.165+18C>T)
c.336+18C>T (n.336+18C>T)
c.2451+18C>T (n.2451+18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477398G=CA1239830018OTOFc.2406+18C= (n.2406+18C=)
c.165+18C= (n.165+18C=)
c.336+18C= (n.336+18C=)
c.2451+18C= (n.2451+18C=)
2g.26477398G>TCA2658237944OTOFc.2406+18C>A (n.2406+18C>A)
c.165+18C>A (n.165+18C>A)
c.336+18C>A (n.336+18C>A)
c.2451+18C>A (n.2451+18C>A)
 gnomAD v4
2g.26477399T>ACA2658237945OTOFc.2406+17A>T (n.2406+17A>T)
c.165+17A>T (n.165+17A>T)
c.336+17A>T (n.336+17A>T)
c.2451+17A>T (n.2451+17A>T)
 gnomAD v4
2g.26477399T>CCA2658237946OTOFc.2406+17A>G (n.2406+17A>G)
c.165+17A>G (n.165+17A>G)
c.336+17A>G (n.336+17A>G)
c.2451+17A>G (n.2451+17A>G)
 gnomAD v4
2g.26477400C>ACA2658237947OTOFc.2406+16G>T (n.2406+16G>T)
c.165+16G>T (n.165+16G>T)
c.336+16G>T (n.336+16G>T)
c.2451+16G>T (n.2451+16G>T)
 gnomAD v4
2g.26477401C>ACA2658237948OTOFc.2406+15G>T (n.2406+15G>T)
c.165+15G>T (n.165+15G>T)
c.336+15G>T (n.336+15G>T)
c.2451+15G>T (n.2451+15G>T)
 gnomAD v4
2g.26477401C>TCA2658237949OTOFc.2406+15G>A (n.2406+15G>A)
c.165+15G>A (n.165+15G>A)
c.336+15G>A (n.336+15G>A)
c.2451+15G>A (n.2451+15G>A)
 gnomAD v4
2g.26477402A>GCA2658237950OTOFc.2406+14T>C (n.2406+14T>C)
c.165+14T>C (n.165+14T>C)
c.336+14T>C (n.336+14T>C)
c.2451+14T>C (n.2451+14T>C)
 gnomAD v4
2g.26477403G>CCA1563932OTOFc.2406+13C>G (n.2406+13C>G)
c.165+13C>G (n.165+13C>G)
c.336+13C>G (n.336+13C>G)
c.2451+13C>G (n.2451+13C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477403G=CA1239830020OTOFc.2406+13C= (n.2406+13C=)
c.165+13C= (n.165+13C=)
c.336+13C= (n.336+13C=)
c.2451+13C= (n.2451+13C=)
2g.26477403G>TCA2658237951OTOFc.2406+13C>A (n.2406+13C>A)
c.165+13C>A (n.165+13C>A)
c.336+13C>A (n.336+13C>A)
c.2451+13C>A (n.2451+13C>A)
 gnomAD v4
2g.26477405T>CCA2698921100OTOFc.2406+11A>G (n.2406+11A>G)
c.165+11A>G (n.165+11A>G)
c.336+11A>G (n.336+11A>G)
c.2451+11A>G (n.2451+11A>G)
 dbSNP
2g.26477406G>ACA1563933OTOFc.2406+10C>T (n.2406+10C>T)
c.165+10C>T (n.165+10C>T)
c.336+10C>T (n.336+10C>T)
c.2451+10C>T (n.2451+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477406G=CA1239830023OTOFc.2406+10C= (n.2406+10C=)
c.165+10C= (n.165+10C=)
c.336+10C= (n.336+10C=)
c.2451+10C= (n.2451+10C=)
2g.26477406G>TCA2658237952OTOFc.2406+10C>A (n.2406+10C>A)
c.165+10C>A (n.165+10C>A)
c.336+10C>A (n.336+10C>A)
c.2451+10C>A (n.2451+10C>A)
 gnomAD v4
2g.26477407C>ACA1239830026OTOFc.2406+9G>T (n.2406+9G>T)
c.165+9G>T (n.165+9G>T)
c.336+9G>T (n.336+9G>T)
c.2451+9G>T (n.2451+9G>T)
 dbSNP gnomAD v4
2g.26477407C=CA1239830025OTOFc.2406+9G= (n.2406+9G=)
c.165+9G= (n.165+9G=)
c.336+9G= (n.336+9G=)
c.2451+9G= (n.2451+9G=)
2g.26477407C>TCA142802OTOFc.2406+9G>A (n.2406+9G>A)
c.165+9G>A (n.165+9G>A)
c.336+9G>A (n.336+9G>A)
c.2451+9G>A (n.2451+9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477408G>ACA1563934OTOFc.2406+8C>T (n.2406+8C>T)
c.165+8C>T (n.165+8C>T)
c.336+8C>T (n.336+8C>T)
c.2451+8C>T (n.2451+8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477408G=CA1239830027OTOFc.2406+8C= (n.2406+8C=)
c.165+8C= (n.165+8C=)
c.336+8C= (n.336+8C=)
c.2451+8C= (n.2451+8C=)
2g.26477409T>CCA531761863OTOFc.2406+7A>G (n.2406+7A>G)
c.165+7A>G (n.165+7A>G)
c.336+7A>G (n.336+7A>G)
c.2451+7A>G (n.2451+7A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26477409T=CA1239830033OTOFc.2406+7A= (n.2406+7A=)
c.165+7A= (n.165+7A=)
c.336+7A= (n.336+7A=)
c.2451+7A= (n.2451+7A=)
2g.26477410C>ACA2658237953OTOFc.2406+6G>T (n.2406+6G>T)
c.165+6G>T (n.165+6G>T)
c.336+6G>T (n.336+6G>T)
c.2451+6G>T (n.2451+6G>T)
 gnomAD v4
2g.26477410C>TCA2658237954OTOFc.2406+6G>A (n.2406+6G>A)
c.165+6G>A (n.165+6G>A)
c.336+6G>A (n.336+6G>A)
c.2451+6G>A (n.2451+6G>A)
 gnomAD v4
2g.26477411C>ACA2749240626OTOFc.2406+5G>T (n.2406+5G>T)
c.165+5G>T (n.165+5G>T)
c.336+5G>T (n.336+5G>T)
c.2451+5G>T (n.2451+5G>T)
2g.26477412T>CCA2573134381OTOFc.2406+4A>G (n.2406+4A>G)
c.165+4A>G (n.165+4A>G)
c.336+4A>G (n.336+4A>G)
c.2451+4A>G (n.2451+4A>G)
 ClinVar dbSNP
2g.26477413C>ACA2658237955OTOFc.2406+3G>T (n.2406+3G>T)
c.165+3G>T (n.165+3G>T)
c.336+3G>T (n.336+3G>T)
c.2451+3G>T (n.2451+3G>T)
 gnomAD v4
2g.26477413C=CA1239830035OTOFc.2406+3G= (n.2406+3G=)
c.165+3G= (n.165+3G=)
c.336+3G= (n.336+3G=)
c.2451+3G= (n.2451+3G=)
2g.26477413C>TCA531761864OTOFc.2406+3G>A (n.2406+3G>A)
c.165+3G>A (n.165+3G>A)
c.336+3G>A (n.336+3G>A)
c.2451+3G>A (n.2451+3G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26477414A>CCA346122903OTOFc.2406+2T>G (n.2406+2T>G)
c.165+2T>G (n.165+2T>G)
c.336+2T>G (n.336+2T>G)
c.2451+2T>G (n.2451+2T>G)
2g.26477414A>GCA346122916OTOFc.2406+2T>C (n.2406+2T>C)
c.165+2T>C (n.165+2T>C)
c.336+2T>C (n.336+2T>C)
c.2451+2T>C (n.2451+2T>C)
 ClinVar gnomAD v4
2g.26477414A>TCA346122920OTOFc.2406+2T>A (n.2406+2T>A)
c.165+2T>A (n.165+2T>A)
c.336+2T>A (n.336+2T>A)
c.2451+2T>A (n.2451+2T>A)
 gnomAD v4
2g.26477414dupCA2573051914OTOFc.2406+2dup (n.2406+2dup)
c.165+2dup (n.165+2dup)
c.336+2dup (n.336+2dup)
c.2451+2dup (n.2451+2dup)
 ClinVar dbSNP
2g.26477415C>ACA346122923OTOFc.2406+1G>T (n.2406+1G>T)
c.165+1G>T (n.165+1G>T)
c.336+1G>T (n.336+1G>T)
c.2451+1G>T (n.2451+1G>T)
2g.26477415C=CA1239830037OTOFc.2406+1G= (n.2406+1G=)
c.165+1G= (n.165+1G=)
c.336+1G= (n.336+1G=)
c.2451+1G= (n.2451+1G=)
2g.26477415C>GCA346122924OTOFc.2406+1G>C (n.2406+1G>C)
c.165+1G>C (n.165+1G>C)
c.336+1G>C (n.336+1G>C)
c.2451+1G>C (n.2451+1G>C)
2g.26477415C>TCA44398460OTOFc.2406+1G>A (n.2406+1G>A)
c.165+1G>A (n.165+1G>A)
c.336+1G>A (n.336+1G>A)
c.2451+1G>A (n.2451+1G>A)
 dbSNP
2g.26477416C>ACA425360020OTOFc.2406G>T (p.Leu802=)
c.165G>T (p.Leu55=)
c.336G>T (p.Leu112=)
c.2451G>T (p.Leu817=)
 gnomAD v4
2g.26477416C>GCA425360021OTOFc.2406G>C (p.Leu802=)
c.165G>C (p.Leu55=)
c.336G>C (p.Leu112=)
c.2451G>C (p.Leu817=)
2g.26477416C>TCA425360022OTOFc.2406G>A (p.Leu802=)
c.165G>A (p.Leu55=)
c.336G>A (p.Leu112=)
c.2451G>A (p.Leu817=)
 gnomAD v4
2g.26477417A>CCA346122926OTOFc.2405T>G (p.Leu802Arg)
c.164T>G (p.Leu55Arg)
c.335T>G (p.Leu112Arg)
c.2450T>G (p.Leu817Arg)
2g.26477417A>GCA346122932OTOFc.2405T>C (p.Leu802Pro)
c.164T>C (p.Leu55Pro)
c.335T>C (p.Leu112Pro)
c.2450T>C (p.Leu817Pro)
 gnomAD v4
2g.26477417A>TCA346122929OTOFc.2405T>A (p.Leu802Gln)
c.164T>A (p.Leu55Gln)
c.335T>A (p.Leu112Gln)
c.2450T>A (p.Leu817Gln)
2g.26477418G>ACA425360027OTOFc.2404C>T (p.Leu802=)
c.163C>T (p.Leu55=)
c.334C>T (p.Leu112=)
c.2449C>T (p.Leu817=)
 dbSNP gnomAD v4
2g.26477418G>CCA346122935OTOFc.2404C>G (p.Leu802Val)
c.163C>G (p.Leu55Val)
c.334C>G (p.Leu112Val)
c.2449C>G (p.Leu817Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477418G=CA1239830042OTOFc.2404C= (p.Leu802=)
c.163C= (p.Leu55=)
c.334C= (p.Leu112=)
c.2449C= (p.Leu817=)
2g.26477418G>TCA346122937OTOFc.2404C>A (p.Leu802Met)
c.163C>A (p.Leu55Met)
c.334C>A (p.Leu112Met)
c.2449C>A (p.Leu817Met)
 gnomAD v4
2g.26477419C>ACA346122941OTOFc.2403G>T (p.Glu801Asp)
c.162G>T (p.Glu54Asp)
c.333G>T (p.Glu111Asp)
c.2448G>T (p.Glu816Asp)
 gnomAD v4
2g.26477419C>GCA346122945OTOFc.2403G>C (p.Glu801Asp)
c.162G>C (p.Glu54Asp)
c.333G>C (p.Glu111Asp)
c.2448G>C (p.Glu816Asp)
2g.26477419C>TCA425360029OTOFc.2403G>A (p.Glu801=)
c.162G>A (p.Glu54=)
c.333G>A (p.Glu111=)
c.2448G>A (p.Glu816=)
2g.26477420T>ACA1563935OTOFc.2402A>T (p.Glu801Val)
c.161A>T (p.Glu54Val)
c.332A>T (p.Glu111Val)
c.2447A>T (p.Glu816Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477420T>CCA346122955OTOFc.2402A>G (p.Glu801Gly)
c.161A>G (p.Glu54Gly)
c.332A>G (p.Glu111Gly)
c.2447A>G (p.Glu816Gly)
2g.26477420T>GCA346122959OTOFc.2402A>C (p.Glu801Ala)
c.161A>C (p.Glu54Ala)
c.332A>C (p.Glu111Ala)
c.2447A>C (p.Glu816Ala)
2g.26477420T=CA1239830048OTOFc.2402A= (p.Glu801=)
c.161A= (p.Glu54=)
c.332A= (p.Glu111=)
c.2447A= (p.Glu816=)
2g.26477420_26477421delinsAACA142800OTOFc.2401_2402delinsTT (p.Glu801Leu)
c.160_161delinsTT (p.Glu54Leu)
c.331_332delinsTT (p.Glu111Leu)
c.2446_2447delinsTT (p.Glu816Leu)
 ClinVar dbSNP
2g.26477420_26477421delinsTCCA1239830050OTOFc.2401_2402delinsGA (p.Glu801=)
c.160_161delinsGA (p.Glu54=)
c.331_332delinsGA (p.Glu111=)
c.2446_2447delinsGA (p.Glu816=)
2g.26477421C>ACA1563936OTOFc.2401G>T (p.Glu801Ter)
c.160G>T (p.Glu54Ter)
c.331G>T (p.Glu111Ter)
c.2446G>T (p.Glu816Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477421C=CA1239830055OTOFc.2401G= (p.Glu801=)
c.160G= (p.Glu54=)
c.331G= (p.Glu111=)
c.2446G= (p.Glu816=)
2g.26477421C>GCA346122971OTOFc.2401G>C (p.Glu801Gln)
c.160G>C (p.Glu54Gln)
c.331G>C (p.Glu111Gln)
c.2446G>C (p.Glu816Gln)
2g.26477421C>TCA346122973OTOFc.2401G>A (p.Glu801Lys)
c.160G>A (p.Glu54Lys)
c.331G>A (p.Glu111Lys)
c.2446G>A (p.Glu816Lys)
2g.26477422C>ACA346122977OTOFc.2400G>T (p.Arg800Ser)
c.159G>T (p.Arg53Ser)
c.330G>T (p.Arg110Ser)
c.2445G>T (p.Arg815Ser)
2g.26477422C=CA1239830059OTOFc.2400G= (p.Arg800=)
c.159G= (p.Arg53=)
c.330G= (p.Arg110=)
c.2445G= (p.Arg815=)
2g.26477422C>GCA346122979OTOFc.2400G>C (p.Arg800Ser)
c.159G>C (p.Arg53Ser)
c.330G>C (p.Arg110Ser)
c.2445G>C (p.Arg815Ser)
 gnomAD v4
2g.26477422C>TCA425360033OTOFc.2400G>A (p.Arg800=)
c.159G>A (p.Arg53=)
c.330G>A (p.Arg110=)
c.2445G>A (p.Arg815=)
 dbSNP
2g.26477423C>ACA346122982OTOFc.2399G>T (p.Arg800Met)
c.158G>T (p.Arg53Met)
c.329G>T (p.Arg110Met)
c.2444G>T (p.Arg815Met)
 gnomAD v4
2g.26477423C=CA1239830062OTOFc.2399G= (p.Arg800=)
c.158G= (p.Arg53=)
c.329G= (p.Arg110=)
c.2444G= (p.Arg815=)
2g.26477423C>GCA346122984OTOFc.2399G>C (p.Arg800Thr)
c.158G>C (p.Arg53Thr)
c.329G>C (p.Arg110Thr)
c.2444G>C (p.Arg815Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26477423C>TCA346122985OTOFc.2399G>A (p.Arg800Lys)
c.158G>A (p.Arg53Lys)
c.329G>A (p.Arg110Lys)
c.2444G>A (p.Arg815Lys)
2g.26477424T>ACA346122988OTOFc.2398A>T (p.Arg800Trp)
c.157A>T (p.Arg53Trp)
c.328A>T (p.Arg110Trp)
c.2443A>T (p.Arg815Trp)
2g.26477424T>CCA346122989OTOFc.2398A>G (p.Arg800Gly)
c.157A>G (p.Arg53Gly)
c.328A>G (p.Arg110Gly)
c.2443A>G (p.Arg815Gly)
 gnomAD v4
2g.26477424T>GCA425360036OTOFc.2398A>C (p.Arg800=)
c.157A>C (p.Arg53=)
c.328A>C (p.Arg110=)
c.2443A>C (p.Arg815=)
2g.26477425C>ACA346122991OTOFc.2397G>T (p.Met799Ile)
c.156G>T (p.Met52Ile)
c.327G>T (p.Met109Ile)
c.2442G>T (p.Met814Ile)
 gnomAD v4
2g.26477425C>GCA346122993OTOFc.2397G>C (p.Met799Ile)
c.156G>C (p.Met52Ile)
c.327G>C (p.Met109Ile)
c.2442G>C (p.Met814Ile)
2g.26477425C>TCA346122995OTOFc.2397G>A (p.Met799Ile)
c.156G>A (p.Met52Ile)
c.327G>A (p.Met109Ile)
c.2442G>A (p.Met814Ile)
2g.26477426A>CCA346122997OTOFc.2396T>G (p.Met799Arg)
c.155T>G (p.Met52Arg)
c.326T>G (p.Met109Arg)
c.2441T>G (p.Met814Arg)
2g.26477426A>GCA346122998OTOFc.2396T>C (p.Met799Thr)
c.155T>C (p.Met52Thr)
c.326T>C (p.Met109Thr)
c.2441T>C (p.Met814Thr)
2g.26477426A>TCA346122999OTOFc.2396T>A (p.Met799Lys)
c.155T>A (p.Met52Lys)
c.326T>A (p.Met109Lys)
c.2441T>A (p.Met814Lys)
 gnomAD v4
2g.26477427T>ACA346123003OTOFc.2395A>T (p.Met799Leu)
c.154A>T (p.Met52Leu)
c.325A>T (p.Met109Leu)
c.2440A>T (p.Met814Leu)
2g.26477427T>CCA346123006OTOFc.2395A>G (p.Met799Val)
c.154A>G (p.Met52Val)
c.325A>G (p.Met109Val)
c.2440A>G (p.Met814Val)
 gnomAD v4
2g.26477427T>GCA346123010OTOFc.2395A>C (p.Met799Leu)
c.154A>C (p.Met52Leu)
c.325A>C (p.Met109Leu)
c.2440A>C (p.Met814Leu)
2g.26477428G>ACA425360043OTOFc.2394C>T (p.Cys798=)
c.153C>T (p.Cys51=)
c.324C>T (p.Cys108=)
c.2439C>T (p.Cys813=)
 gnomAD v4
2g.26477428G>CCA346123024OTOFc.2394C>G (p.Cys798Trp)
c.153C>G (p.Cys51Trp)
c.324C>G (p.Cys108Trp)
c.2439C>G (p.Cys813Trp)
2g.26477428G>TCA346123028OTOFc.2394C>A (p.Cys798Ter)
c.153C>A (p.Cys51Ter)
c.324C>A (p.Cys108Ter)
c.2439C>A (p.Cys813Ter)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477429C>ACA1563937OTOFc.2393G>T (p.Cys798Phe)
c.152G>T (p.Cys51Phe)
c.323G>T (p.Cys108Phe)
c.2438G>T (p.Cys813Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477429C=CA1239830065OTOFc.2393G= (p.Cys798=)
c.152G= (p.Cys51=)
c.323G= (p.Cys108=)
c.2438G= (p.Cys813=)
2g.26477429C>GCA346123039OTOFc.2393G>C (p.Cys798Ser)
c.152G>C (p.Cys51Ser)
c.323G>C (p.Cys108Ser)
c.2438G>C (p.Cys813Ser)
2g.26477429C>TCA346123040OTOFc.2393G>A (p.Cys798Tyr)
c.152G>A (p.Cys51Tyr)
c.323G>A (p.Cys108Tyr)
c.2438G>A (p.Cys813Tyr)
 gnomAD v4
2g.26477430A=CA1239830067OTOFc.2392T= (p.Cys798=)
c.151T= (p.Cys51=)
c.322T= (p.Cys108=)
c.2437T= (p.Cys813=)
2g.26477430A>CCA346123041OTOFc.2392T>G (p.Cys798Gly)
c.151T>G (p.Cys51Gly)
c.322T>G (p.Cys108Gly)
c.2437T>G (p.Cys813Gly)
2g.26477430A>GCA44398468OTOFc.2392T>C (p.Cys798Arg)
c.151T>C (p.Cys51Arg)
c.322T>C (p.Cys108Arg)
c.2437T>C (p.Cys813Arg)
 ClinVar dbSNP gnomAD v4
2g.26477430A>TCA346123051OTOFc.2392T>A (p.Cys798Ser)
c.151T>A (p.Cys51Ser)
c.322T>A (p.Cys108Ser)
c.2437T>A (p.Cys813Ser)
 gnomAD v4
2g.26477431G>ACA425360048OTOFc.2391C>T (p.Ser797=)
c.150C>T (p.Ser50=)
c.321C>T (p.Ser107=)
c.2436C>T (p.Ser812=)
 gnomAD v4
2g.26477431G>CCA425360050OTOFc.2391C>G (p.Ser797=)
c.150C>G (p.Ser50=)
c.321C>G (p.Ser107=)
c.2436C>G (p.Ser812=)
2g.26477431G>TCA425360052OTOFc.2391C>A (p.Ser797=)
c.150C>A (p.Ser50=)
c.321C>A (p.Ser107=)
c.2436C>A (p.Ser812=)
 gnomAD v4
2g.26477432G>ACA346123063OTOFc.2390C>T (p.Ser797Phe)
c.149C>T (p.Ser50Phe)
c.320C>T (p.Ser107Phe)
c.2435C>T (p.Ser812Phe)
2g.26477432G>CCA346123066OTOFc.2390C>G (p.Ser797Cys)
c.149C>G (p.Ser50Cys)
c.320C>G (p.Ser107Cys)
c.2435C>G (p.Ser812Cys)
2g.26477432G>TCA346123069OTOFc.2390C>A (p.Ser797Tyr)
c.149C>A (p.Ser50Tyr)
c.320C>A (p.Ser107Tyr)
c.2435C>A (p.Ser812Tyr)
2g.26477433A>CCA346123073OTOFc.2389T>G (p.Ser797Ala)
c.148T>G (p.Ser50Ala)
c.319T>G (p.Ser107Ala)
c.2434T>G (p.Ser812Ala)
2g.26477433A>GCA346123074OTOFc.2389T>C (p.Ser797Pro)
c.148T>C (p.Ser50Pro)
c.319T>C (p.Ser107Pro)
c.2434T>C (p.Ser812Pro)
2g.26477433A>TCA346123075OTOFc.2389T>A (p.Ser797Thr)
c.148T>A (p.Ser50Thr)
c.319T>A (p.Ser107Thr)
c.2434T>A (p.Ser812Thr)
2g.26477434C>ACA346123085OTOFc.2388G>T (p.Lys796Asn)
c.147G>T (p.Lys49Asn)
c.318G>T (p.Lys106Asn)
c.2433G>T (p.Lys811Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.26477434C=CA1239830069OTOFc.2388G= (p.Lys796=)
c.147G= (p.Lys49=)
c.318G= (p.Lys106=)
c.2433G= (p.Lys811=)
2g.26477434C>GCA346123079OTOFc.2388G>C (p.Lys796Asn)
c.147G>C (p.Lys49Asn)
c.318G>C (p.Lys106Asn)
c.2433G>C (p.Lys811Asn)
2g.26477434C>TCA425360055OTOFc.2388G>A (p.Lys796=)
c.147G>A (p.Lys49=)
c.318G>A (p.Lys106=)
c.2433G>A (p.Lys811=)
2g.26477435T>ACA346123091OTOFc.2387A>T (p.Lys796Met)
c.146A>T (p.Lys49Met)
c.317A>T (p.Lys106Met)
c.2432A>T (p.Lys811Met)
2g.26477435T>CCA346123101OTOFc.2387A>G (p.Lys796Arg)
c.146A>G (p.Lys49Arg)
c.317A>G (p.Lys106Arg)
c.2432A>G (p.Lys811Arg)
2g.26477435T>GCA346123093OTOFc.2387A>C (p.Lys796Thr)
c.146A>C (p.Lys49Thr)
c.317A>C (p.Lys106Thr)
c.2432A>C (p.Lys811Thr)
2g.26477436T>ACA346123104OTOFc.2386A>T (p.Lys796Ter)
c.145A>T (p.Lys49Ter)
c.316A>T (p.Lys106Ter)
c.2431A>T (p.Lys811Ter)
2g.26477436T>CCA346123106OTOFc.2386A>G (p.Lys796Glu)
c.145A>G (p.Lys49Glu)
c.316A>G (p.Lys106Glu)
c.2431A>G (p.Lys811Glu)
 gnomAD v4
2g.26477436T>GCA346123108OTOFc.2386A>C (p.Lys796Gln)
c.145A>C (p.Lys49Gln)
c.316A>C (p.Lys106Gln)
c.2431A>C (p.Lys811Gln)
2g.26477437G>ACA425360061OTOFc.2385C>T (p.Leu795=)
c.144C>T (p.Leu48=)
c.315C>T (p.Leu105=)
c.2430C>T (p.Leu810=)
 gnomAD v4
2g.26477437G>CCA425360062OTOFc.2385C>G (p.Leu795=)
c.144C>G (p.Leu48=)
c.315C>G (p.Leu105=)
c.2430C>G (p.Leu810=)
2g.26477437G>TCA425360063OTOFc.2385C>A (p.Leu795=)
c.144C>A (p.Leu48=)
c.315C>A (p.Leu105=)
c.2430C>A (p.Leu810=)
 gnomAD v4
2g.26477438_26477440delCA2698921354OTOFc.2383_2385del (p.Leu795del)
c.142_144del (p.Leu48del)
c.313_315del (p.Leu105del)
c.2428_2430del (p.Leu810del)
 dbSNP
2g.26477438A>CCA346123111OTOFc.2384T>G (p.Leu795Arg)
c.143T>G (p.Leu48Arg)
c.314T>G (p.Leu105Arg)
c.2429T>G (p.Leu810Arg)
2g.26477438A>GCA346123115OTOFc.2384T>C (p.Leu795Pro)
c.143T>C (p.Leu48Pro)
c.314T>C (p.Leu105Pro)
c.2429T>C (p.Leu810Pro)
 gnomAD v4
2g.26477438A>TCA346123119OTOFc.2384T>A (p.Leu795His)
c.143T>A (p.Leu48His)
c.314T>A (p.Leu105His)
c.2429T>A (p.Leu810His)
 gnomAD v4
2g.26477439G>ACA346123123OTOFc.2383C>T (p.Leu795Phe)
c.142C>T (p.Leu48Phe)
c.313C>T (p.Leu105Phe)
c.2428C>T (p.Leu810Phe)
 ClinVar dbSNP gnomAD v4
2g.26477439G>CCA346123126OTOFc.2383C>G (p.Leu795Val)
c.142C>G (p.Leu48Val)
c.313C>G (p.Leu105Val)
c.2428C>G (p.Leu810Val)
 gnomAD v4
2g.26477439G>TCA346123129OTOFc.2383C>A (p.Leu795Ile)
c.142C>A (p.Leu48Ile)
c.313C>A (p.Leu105Ile)
c.2428C>A (p.Leu810Ile)
2g.26477440delCA2586968837OTOFc.2383del (p.Leu795SerfsTer5)
c.142del (p.Leu48SerfsTer5)
c.313del (p.Leu105SerfsTer5)
c.2428del (p.Leu810SerfsTer5)
2g.26477440G>ACA425360069OTOFc.2382C>T (p.Arg794=)
c.141C>T (p.Arg47=)
c.312C>T (p.Arg104=)
c.2427C>T (p.Arg809=)
 gnomAD v4
2g.26477440G>CCA425360072OTOFc.2382C>G (p.Arg794=)
c.141C>G (p.Arg47=)
c.312C>G (p.Arg104=)
c.2427C>G (p.Arg809=)
2g.26477440G>TCA425360068OTOFc.2382C>A (p.Arg794=)
c.141C>A (p.Arg47=)
c.312C>A (p.Arg104=)
c.2427C>A (p.Arg809=)
2g.26477441C>ACA346123134OTOFc.2381G>T (p.Arg794Leu)
c.140G>T (p.Arg47Leu)
c.311G>T (p.Arg104Leu)
c.2426G>T (p.Arg809Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.26477441C=CA1239830073OTOFc.2381G= (p.Arg794=)
c.140G= (p.Arg47=)
c.311G= (p.Arg104=)
c.2426G= (p.Arg809=)
2g.26477441C>GCA346123137OTOFc.2381G>C (p.Arg794Pro)
c.140G>C (p.Arg47Pro)
c.311G>C (p.Arg104Pro)
c.2426G>C (p.Arg809Pro)
2g.26477441C>TCA142799OTOFc.2381G>A (p.Arg794His)
c.140G>A (p.Arg47His)
c.311G>A (p.Arg104His)
c.2426G>A (p.Arg809His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477442G>ACA1563938OTOFc.2380C>T (p.Arg794Cys)
c.139C>T (p.Arg47Cys)
c.310C>T (p.Arg104Cys)
c.2425C>T (p.Arg809Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477442G>CCA346123143OTOFc.2380C>G (p.Arg794Gly)
c.139C>G (p.Arg47Gly)
c.310C>G (p.Arg104Gly)
c.2425C>G (p.Arg809Gly)
2g.26477442G=CA1239830078OTOFc.2380C= (p.Arg794=)
c.139C= (p.Arg47=)
c.310C= (p.Arg104=)
c.2425C= (p.Arg809=)
2g.26477442G>TCA346123145OTOFc.2380C>A (p.Arg794Ser)
c.139C>A (p.Arg47Ser)
c.310C>A (p.Arg104Ser)
c.2425C>A (p.Arg809Ser)
 gnomAD v4
2g.26477443C>ACA346123150OTOFc.2379G>T (p.Glu793Asp)
c.138G>T (p.Glu46Asp)
c.309G>T (p.Glu103Asp)
c.2424G>T (p.Glu808Asp)
2g.26477443C=CA1239830080OTOFc.2379G= (p.Glu793=)
c.138G= (p.Glu46=)
c.309G= (p.Glu103=)
c.2424G= (p.Glu808=)
2g.26477443C>GCA346123154OTOFc.2379G>C (p.Glu793Asp)
c.138G>C (p.Glu46Asp)
c.309G>C (p.Glu103Asp)
c.2424G>C (p.Glu808Asp)
2g.26477443C>TCA425359969OTOFc.2379G>A (p.Glu793=)
c.138G>A (p.Glu46=)
c.309G>A (p.Glu103=)
c.2424G>A (p.Glu808=)
 dbSNP gnomAD v2
2g.26477444T>ACA346123159OTOFc.2378A>T (p.Glu793Val)
c.137A>T (p.Glu46Val)
c.308A>T (p.Glu103Val)
c.2423A>T (p.Glu808Val)
2g.26477444T>CCA346123161OTOFc.2378A>G (p.Glu793Gly)
c.137A>G (p.Glu46Gly)
c.308A>G (p.Glu103Gly)
c.2423A>G (p.Glu808Gly)
 gnomAD v4
2g.26477444T>GCA346123163OTOFc.2378A>C (p.Glu793Ala)
c.137A>C (p.Glu46Ala)
c.308A>C (p.Glu103Ala)
c.2423A>C (p.Glu808Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.26477444T=CA1239830082OTOFc.2378A= (p.Glu793=)
c.137A= (p.Glu46=)
c.308A= (p.Glu103=)
c.2423A= (p.Glu808=)
2g.26477445C>ACA346123167OTOFc.2377G>T (p.Glu793Ter)
c.136G>T (p.Glu46Ter)
c.307G>T (p.Glu103Ter)
c.2422G>T (p.Glu808Ter)
 ClinVar gnomAD v4
2g.26477445C=CA1239830084OTOFc.2377G= (p.Glu793=)
c.136G= (p.Glu46=)
c.307G= (p.Glu103=)
c.2422G= (p.Glu808=)
2g.26477445C>GCA346123169OTOFc.2377G>C (p.Glu793Gln)
c.136G>C (p.Glu46Gln)
c.307G>C (p.Glu103Gln)
c.2422G>C (p.Glu808Gln)
 dbSNP
2g.26477445C>TCA346123171OTOFc.2377G>A (p.Glu793Lys)
c.136G>A (p.Glu46Lys)
c.307G>A (p.Glu103Lys)
c.2422G>A (p.Glu808Lys)
2g.26477447delCA2658238000OTOFc.2377del (p.Glu793SerfsTer7)
c.136del (p.Glu46SerfsTer7)
c.307del (p.Glu103SerfsTer7)
c.2422del (p.Glu808SerfsTer7)
 gnomAD v4
2g.26477446C>ACA425359974OTOFc.2376G>T (p.Arg792=)
c.135G>T (p.Arg45=)
c.306G>T (p.Arg102=)
c.2421G>T (p.Arg807=)
 gnomAD v4
2g.26477446C=CA1239830088OTOFc.2376G= (p.Arg792=)
c.135G= (p.Arg45=)
c.306G= (p.Arg102=)
c.2421G= (p.Arg807=)
2g.26477446C>GCA425359975OTOFc.2376G>C (p.Arg792=)
c.135G>C (p.Arg45=)
c.306G>C (p.Arg102=)
c.2421G>C (p.Arg807=)
 dbSNP gnomAD v2 gnomAD v4
2g.26477446C>TCA44398485OTOFc.2376G>A (p.Arg792=)
c.135G>A (p.Arg45=)
c.306G>A (p.Arg102=)
c.2421G>A (p.Arg807=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477447C>ACA346123178OTOFc.2375G>T (p.Arg792Leu)
c.134G>T (p.Arg45Leu)
c.305G>T (p.Arg102Leu)
c.2420G>T (p.Arg807Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.26477447C=CA1239830094OTOFc.2375G= (p.Arg792=)
c.134G= (p.Arg45=)
c.305G= (p.Arg102=)
c.2420G= (p.Arg807=)
2g.26477447C>GCA1563939OTOFc.2375G>C (p.Arg792Pro)
c.134G>C (p.Arg45Pro)
c.305G>C (p.Arg102Pro)
c.2420G>C (p.Arg807Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477447C>TCA142795OTOFc.2375G>A (p.Arg792Gln)
c.134G>A (p.Arg45Gln)
c.305G>A (p.Arg102Gln)
c.2420G>A (p.Arg807Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477448G>ACA177552OTOFc.2374C>T (p.Arg792Trp)
c.133C>T (p.Arg45Trp)
c.304C>T (p.Arg102Trp)
c.2419C>T (p.Arg807Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477448G>CCA346123196OTOFc.2374C>G (p.Arg792Gly)
c.133C>G (p.Arg45Gly)
c.304C>G (p.Arg102Gly)
c.2419C>G (p.Arg807Gly)
2g.26477448G=CA1239830099OTOFc.2374C= (p.Arg792=)
c.133C= (p.Arg45=)
c.304C= (p.Arg102=)
c.2419C= (p.Arg807=)
2g.26477448G>TCA425359976OTOFc.2374C>A (p.Arg792=)
c.133C>A (p.Arg45=)
c.304C>A (p.Arg102=)
c.2419C>A (p.Arg807=)
 dbSNP gnomAD v3 gnomAD v4
2g.26477449G>ACA425359977OTOFc.2373C>T (p.Asp791=)
c.132C>T (p.Asp44=)
c.303C>T (p.Asp101=)
c.2418C>T (p.Asp806=)
 gnomAD v4
2g.26477449G>CCA346123201OTOFc.2373C>G (p.Asp791Glu)
c.132C>G (p.Asp44Glu)
c.303C>G (p.Asp101Glu)
c.2418C>G (p.Asp806Glu)
2g.26477449G>TCA346123203OTOFc.2373C>A (p.Asp791Glu)
c.132C>A (p.Asp44Glu)
c.303C>A (p.Asp101Glu)
c.2418C>A (p.Asp806Glu)
 gnomAD v4
2g.26477450T>ACA346123206OTOFc.2372A>T (p.Asp791Val)
c.131A>T (p.Asp44Val)
c.302A>T (p.Asp101Val)
c.2417A>T (p.Asp806Val)
2g.26477450T>CCA346123207OTOFc.2372A>G (p.Asp791Gly)
c.131A>G (p.Asp44Gly)
c.302A>G (p.Asp101Gly)
c.2417A>G (p.Asp806Gly)
 gnomAD v4
2g.26477450T>GCA346123209OTOFc.2372A>C (p.Asp791Ala)
c.131A>C (p.Asp44Ala)
c.302A>C (p.Asp101Ala)
c.2417A>C (p.Asp806Ala)
2g.26477451C>ACA346123212OTOFc.2371G>T (p.Asp791Tyr)
c.130G>T (p.Asp44Tyr)
c.301G>T (p.Asp101Tyr)
c.2416G>T (p.Asp806Tyr)
 gnomAD v4
2g.26477451C=CA1239830103OTOFc.2371G= (p.Asp791=)
c.130G= (p.Asp44=)
c.301G= (p.Asp101=)
c.2416G= (p.Asp806=)
2g.26477451C>GCA346123214OTOFc.2371G>C (p.Asp791His)
c.130G>C (p.Asp44His)
c.301G>C (p.Asp101His)
c.2416G>C (p.Asp806His)
2g.26477451C>TCA346123217OTOFc.2371G>A (p.Asp791Asn)
c.130G>A (p.Asp44Asn)
c.301G>A (p.Asp101Asn)
c.2416G>A (p.Asp806Asn)
 gnomAD v4
2g.26477451_26477452insTCA262044OTOFc.2370_2371insA (p.Asp791ArgfsTer?)
c.129_130insA (p.Asp44ArgfsTer?)
c.300_301insA (p.Asp101ArgfsTer?)
c.2415_2416insA (p.Asp806ArgfsTer?)
 ClinVar dbSNP
2g.26477452A>CCA425359980OTOFc.2370T>G (p.Leu790=)
c.129T>G (p.Leu43=)
c.300T>G (p.Leu100=)
c.2415T>G (p.Leu805=)
2g.26477452A>GCA425359981OTOFc.2370T>C (p.Leu790=)
c.129T>C (p.Leu43=)
c.300T>C (p.Leu100=)
c.2415T>C (p.Leu805=)
 gnomAD v4
2g.26477452A>TCA425359983OTOFc.2370T>A (p.Leu790=)
c.129T>A (p.Leu43=)
c.300T>A (p.Leu100=)
c.2415T>A (p.Leu805=)
 ClinVar
2g.26477453A>CCA346123224OTOFc.2369T>G (p.Leu790Arg)
c.128T>G (p.Leu43Arg)
c.299T>G (p.Leu100Arg)
c.2414T>G (p.Leu805Arg)
 gnomAD v4
2g.26477453A>GCA346123226OTOFc.2369T>C (p.Leu790Pro)
c.128T>C (p.Leu43Pro)
c.299T>C (p.Leu100Pro)
c.2414T>C (p.Leu805Pro)
2g.26477453A>TCA346123228OTOFc.2369T>A (p.Leu790His)
c.128T>A (p.Leu43His)
c.299T>A (p.Leu100His)
c.2414T>A (p.Leu805His)
2g.26477454G>ACA346123232OTOFc.2368C>T (p.Leu790Phe)
c.127C>T (p.Leu43Phe)
c.298C>T (p.Leu100Phe)
c.2413C>T (p.Leu805Phe)
 gnomAD v4
2g.26477454G>CCA346123236OTOFc.2368C>G (p.Leu790Val)
c.127C>G (p.Leu43Val)
c.298C>G (p.Leu100Val)
c.2413C>G (p.Leu805Val)
2g.26477454G>TCA346123238OTOFc.2368C>A (p.Leu790Ile)
c.127C>A (p.Leu43Ile)
c.298C>A (p.Leu100Ile)
c.2413C>A (p.Leu805Ile)
 gnomAD v4
2g.26477455C>ACA346123241OTOFc.2367G>T (p.Arg789Ser)
c.126G>T (p.Arg42Ser)
c.297G>T (p.Arg99Ser)
c.2412G>T (p.Arg804Ser)
 gnomAD v4
2g.26477455C=CA1239830110OTOFc.2367G= (p.Arg789=)
c.126G= (p.Arg42=)
c.297G= (p.Arg99=)
c.2412G= (p.Arg804=)
2g.26477455C>GCA346123244OTOFc.2367G>C (p.Arg789Ser)
c.126G>C (p.Arg42Ser)
c.297G>C (p.Arg99Ser)
c.2412G>C (p.Arg804Ser)
2g.26477455C>TCA44398499OTOFc.2367G>A (p.Arg789=)
c.126G>A (p.Arg42=)
c.297G>A (p.Arg99=)
c.2412G>A (p.Arg804=)
 dbSNP gnomAD v4
2g.26477456C>ACA346123247OTOFc.2366G>T (p.Arg789Met)
c.125G>T (p.Arg42Met)
c.296G>T (p.Arg99Met)
c.2411G>T (p.Arg804Met)
 gnomAD v4
2g.26477456C>GCA346123249OTOFc.2366G>C (p.Arg789Thr)
c.125G>C (p.Arg42Thr)
c.296G>C (p.Arg99Thr)
c.2411G>C (p.Arg804Thr)
2g.26477456C>TCA346123251OTOFc.2366G>A (p.Arg789Lys)
c.125G>A (p.Arg42Lys)
c.296G>A (p.Arg99Lys)
c.2411G>A (p.Arg804Lys)
2g.26477457T>ACA346123253OTOFc.2365A>T (p.Arg789Trp)
c.124A>T (p.Arg42Trp)
c.295A>T (p.Arg99Trp)
c.2410A>T (p.Arg804Trp)
 gnomAD v4
2g.26477457T>CCA346123256OTOFc.2365A>G (p.Arg789Gly)
c.124A>G (p.Arg42Gly)
c.295A>G (p.Arg99Gly)
c.2410A>G (p.Arg804Gly)
 gnomAD v4
2g.26477457T>GCA425359988OTOFc.2365A>C (p.Arg789=)
c.124A>C (p.Arg42=)
c.295A>C (p.Arg99=)
c.2410A>C (p.Arg804=)
2g.26477458G>ACA1563940OTOFc.2364C>T (p.Thr788=)
c.123C>T (p.Thr41=)
c.294C>T (p.Thr98=)
c.2409C>T (p.Thr803=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26477458G>CCA425359989OTOFc.2364C>G (p.Thr788=)
c.123C>G (p.Thr41=)
c.294C>G (p.Thr98=)
c.2409C>G (p.Thr803=)
2g.26477458G=CA1239830113OTOFc.2364C= (p.Thr788=)
c.123C= (p.Thr41=)
c.294C= (p.Thr98=)
c.2409C= (p.Thr803=)
2g.26477458G>TCA425359990OTOFc.2364C>A (p.Thr788=)
c.123C>A (p.Thr41=)
c.294C>A (p.Thr98=)
c.2409C>A (p.Thr803=)
 gnomAD v4
2g.26477459G>ACA346123259OTOFc.2363C>T (p.Thr788Ile)
c.122C>T (p.Thr41Ile)
c.293C>T (p.Thr98Ile)
c.2408C>T (p.Thr803Ile)
 dbSNP
2g.26477459G>CCA346123260OTOFc.2363C>G (p.Thr788Ser)
c.122C>G (p.Thr41Ser)
c.293C>G (p.Thr98Ser)
c.2408C>G (p.Thr803Ser)
2g.26477459G=CA1239830114OTOFc.2363C= (p.Thr788=)
c.122C= (p.Thr41=)
c.293C= (p.Thr98=)
c.2408C= (p.Thr803=)
2g.26477459G>TCA346123261OTOFc.2363C>A (p.Thr788Asn)
c.122C>A (p.Thr41Asn)
c.293C>A (p.Thr98Asn)
c.2408C>A (p.Thr803Asn)
2g.26477460T>ACA346123263OTOFc.2362A>T (p.Thr788Ser)
c.121A>T (p.Thr41Ser)
c.292A>T (p.Thr98Ser)
c.2407A>T (p.Thr803Ser)
2g.26477460T>CCA346123267OTOFc.2362A>G (p.Thr788Ala)
c.121A>G (p.Thr41Ala)
c.292A>G (p.Thr98Ala)
c.2407A>G (p.Thr803Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.26477460T>GCA346123269OTOFc.2362A>C (p.Thr788Pro)
c.121A>C (p.Thr41Pro)
c.292A>C (p.Thr98Pro)
c.2407A>C (p.Thr803Pro)
 gnomAD v4
2g.26477460T=CA1239830118OTOFc.2362A= (p.Thr788=)
c.121A= (p.Thr41=)
c.292A= (p.Thr98=)
c.2407A= (p.Thr803=)
2g.26477461G>ACA1563941OTOFc.2361C>T (p.Arg787=)
c.120C>T (p.Arg40=)
c.291C>T (p.Arg97=)
c.2406C>T (p.Arg802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26477461G>CCA425359993OTOFc.2361C>G (p.Arg787=)
c.120C>G (p.Arg40=)
c.291C>G (p.Arg97=)
c.2406C>G (p.Arg802=)
2g.26477461G=CA1239830120OTOFc.2361C= (p.Arg787=)
c.120C= (p.Arg40=)
c.291C= (p.Arg97=)
c.2406C= (p.Arg802=)
2g.26477461G>TCA425359992OTOFc.2361C>A (p.Arg787=)
c.120C>A (p.Arg40=)
c.291C>A (p.Arg97=)
c.2406C>A (p.Arg802=)
 gnomAD v4
2g.26477462C>ACA346123274OTOFc.2360G>T (p.Arg787Leu)
c.119G>T (p.Arg40Leu)
c.290G>T (p.Arg97Leu)
c.2405G>T (p.Arg802Leu)
 gnomAD v4
2g.26477462C=CA1239830123OTOFc.2360G= (p.Arg787=)
c.119G= (p.Arg40=)
c.290G= (p.Arg97=)
c.2405G= (p.Arg802=)
2g.26477462C>GCA346123279OTOFc.2360G>C (p.Arg787Pro)
c.119G>C (p.Arg40Pro)
c.290G>C (p.Arg97Pro)
c.2405G>C (p.Arg802Pro)
2g.26477462C>TCA44398509OTOFc.2360G>A (p.Arg787His)
c.119G>A (p.Arg40His)
c.290G>A (p.Arg97His)
c.2405G>A (p.Arg802His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477463G>ACA1563942OTOFc.2359C>T (p.Arg787Cys)
c.118C>T (p.Arg40Cys)
c.289C>T (p.Arg97Cys)
c.2404C>T (p.Arg802Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26477463G>CCA346123289OTOFc.2359C>G (p.Arg787Gly)
c.118C>G (p.Arg40Gly)
c.289C>G (p.Arg97Gly)
c.2404C>G (p.Arg802Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.26477463G=CA1239830132OTOFc.2359C= (p.Arg787=)
c.118C= (p.Arg40=)
c.289C= (p.Arg97=)
c.2404C= (p.Arg802=)
2g.26477463G>TCA346123287OTOFc.2359C>A (p.Arg787Ser)
c.118C>A (p.Arg40Ser)
c.289C>A (p.Arg97Ser)
c.2404C>A (p.Arg802Ser)
 gnomAD v4
2g.26477464G>ACA425359994OTOFc.2358C>T (p.Ser786=)
c.117C>T (p.Ser39=)
c.288C>T (p.Ser96=)
c.2403C>T (p.Ser801=)
 gnomAD v4
2g.26477464G>CCA425359996OTOFc.2358C>G (p.Ser786=)
c.117C>G (p.Ser39=)
c.288C>G (p.Ser96=)
c.2403C>G (p.Ser801=)
2g.26477464G>TCA425359997OTOFc.2358C>A (p.Ser786=)
c.117C>A (p.Ser39=)
c.288C>A (p.Ser96=)
c.2403C>A (p.Ser801=)
2g.26477464_26477483dupCA2740257657OTOFc.2339_2358dup (p.Leu790AlafsTer17)
c.98_117dup (p.Leu43AlafsTer17)
c.269_288dup (p.Leu100AlafsTer17)
c.2384_2403dup (p.Leu805AlafsTer17)
2g.26477465G>ACA346123292OTOFc.2357C>T (p.Ser786Phe)
c.116C>T (p.Ser39Phe)
c.287C>T (p.Ser96Phe)
c.2402C>T (p.Ser801Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.26477465G>CCA346123297OTOFc.2357C>G (p.Ser786Cys)
c.116C>G (p.Ser39Cys)
c.287C>G (p.Ser96Cys)
c.2402C>G (p.Ser801Cys)
 gnomAD v4
2g.26477465G=CA1239830138OTOFc.2357C= (p.Ser786=)
c.116C= (p.Ser39=)
c.287C= (p.Ser96=)
c.2402C= (p.Ser801=)
2g.26477465G>TCA346123295OTOFc.2357C>A (p.Ser786Tyr)
c.116C>A (p.Ser39Tyr)
c.287C>A (p.Ser96Tyr)
c.2402C>A (p.Ser801Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.26477466A=CA1239830140OTOFc.2356T= (p.Ser786=)
c.115T= (p.Ser39=)
c.286T= (p.Ser96=)
c.2401T= (p.Ser801=)
2g.26477466A>CCA346123301OTOFc.2356T>G (p.Ser786Ala)
c.115T>G (p.Ser39Ala)
c.286T>G (p.Ser96Ala)
c.2401T>G (p.Ser801Ala)
 gnomAD v4
2g.26477466A>GCA346123302OTOFc.2356T>C (p.Ser786Pro)
c.115T>C (p.Ser39Pro)
c.286T>C (p.Ser96Pro)
c.2401T>C (p.Ser801Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26477466A>TCA346123304OTOFc.2356T>A (p.Ser786Thr)
c.115T>A (p.Ser39Thr)
c.286T>A (p.Ser96Thr)
c.2401T>A (p.Ser801Thr)

Number of alleles fetched