Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.59911685T>CCA2623205661DIAPH3c.2367+50A>G (n.2367+50A>G)
c.2334+50A>G (n.2334+50A>G)
c.2157+50A>G (n.2157+50A>G)
c.2229+50A>G (n.2229+50A>G)
c.1578+50A>G (n.1578+50A>G)
n.2529+50A>G
n.2551+50A>G
 gnomAD v4
13g.59911687C>TCA2575424174DIAPH3c.2367+48G>A (n.2367+48G>A)
c.2334+48G>A (n.2334+48G>A)
c.2157+48G>A (n.2157+48G>A)
c.2229+48G>A (n.2229+48G>A)
c.1578+48G>A (n.1578+48G>A)
n.2529+48G>A
n.2551+48G>A
13g.59911688_59911689insTTTCA2517453716DIAPH3c.2367+47_2367+48insAAA (n.2367+47_2367+48insAAA)
c.2334+47_2334+48insAAA (n.2334+47_2334+48insAAA)
c.2157+47_2157+48insAAA (n.2157+47_2157+48insAAA)
c.2229+47_2229+48insAAA (n.2229+47_2229+48insAAA)
c.1578+47_1578+48insAAA (n.1578+47_1578+48insAAA)
n.2529+47_2529+48insAAA
n.2551+47_2551+48insAAA
13g.59911689_59911691delinsCTTCA2095278574DIAPH3c.2367+44_2367+46delinsAAG (n.2367+44_2367+46delinsAAG)
c.2334+44_2334+46delinsAAG (n.2334+44_2334+46delinsAAG)
c.2157+44_2157+46delinsAAG (n.2157+44_2157+46delinsAAG)
c.2229+44_2229+46delinsAAG (n.2229+44_2229+46delinsAAG)
c.1578+44_1578+46delinsAAG (n.1578+44_1578+46delinsAAG)
n.2529+44_2529+46delinsAAG
n.2551+44_2551+46delinsAAG
13g.59911690T>CCA6996401DIAPH3c.2367+45A>G (n.2367+45A>G)
c.2334+45A>G (n.2334+45A>G)
c.2157+45A>G (n.2157+45A>G)
c.2229+45A>G (n.2229+45A>G)
c.1578+45A>G (n.1578+45A>G)
n.2529+45A>G
n.2551+45A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911690T=CA2095278576DIAPH3c.2367+45A= (n.2367+45A=)
c.2334+45A= (n.2334+45A=)
c.2157+45A= (n.2157+45A=)
c.2229+45A= (n.2229+45A=)
c.1578+45A= (n.1578+45A=)
n.2529+45A=
n.2551+45A=
13g.59911690_59911691delCA956587826DIAPH3c.2367+44_2367+45del (n.2367+44_2367+45del)
c.2334+44_2334+45del (n.2334+44_2334+45del)
c.2157+44_2157+45del (n.2157+44_2157+45del)
c.2229+44_2229+45del (n.2229+44_2229+45del)
c.1578+44_1578+45del (n.1578+44_1578+45del)
n.2529+44_2529+45del
n.2551+44_2551+45del
 dbSNP gnomAD v3 gnomAD v4
13g.59911690_59911691insCCA2549084000DIAPH3c.2367+44_2367+45insG (n.2367+44_2367+45insG)
c.2334+44_2334+45insG (n.2334+44_2334+45insG)
c.2157+44_2157+45insG (n.2157+44_2157+45insG)
c.2229+44_2229+45insG (n.2229+44_2229+45insG)
c.1578+44_1578+45insG (n.1578+44_1578+45insG)
n.2529+44_2529+45insG
n.2551+44_2551+45insG
13g.59911692G>TCA2575424175DIAPH3c.2367+43C>A (n.2367+43C>A)
c.2334+43C>A (n.2334+43C>A)
c.2157+43C>A (n.2157+43C>A)
c.2229+43C>A (n.2229+43C>A)
c.1578+43C>A (n.1578+43C>A)
n.2529+43C>A
n.2551+43C>A
 gnomAD v4
13g.59911694T>CCA2623205662DIAPH3c.2367+41A>G (n.2367+41A>G)
c.2334+41A>G (n.2334+41A>G)
c.2157+41A>G (n.2157+41A>G)
c.2229+41A>G (n.2229+41A>G)
c.1578+41A>G (n.1578+41A>G)
n.2529+41A>G
n.2551+41A>G
 gnomAD v4
13g.59911696G>TCA2623205663DIAPH3c.2367+39C>A (n.2367+39C>A)
c.2334+39C>A (n.2334+39C>A)
c.2157+39C>A (n.2157+39C>A)
c.2229+39C>A (n.2229+39C>A)
c.1578+39C>A (n.1578+39C>A)
n.2529+39C>A
n.2551+39C>A
 gnomAD v4
13g.59911696_59911697delCA2499872818DIAPH3c.2367+38_2367+39del (n.2367+38_2367+39del)
c.2334+38_2334+39del (n.2334+38_2334+39del)
c.2157+38_2157+39del (n.2157+38_2157+39del)
c.2229+38_2229+39del (n.2229+38_2229+39del)
c.1578+38_1578+39del (n.1578+38_1578+39del)
n.2529+38_2529+39del
n.2551+38_2551+39del
13g.59911697G>TCA2623205664DIAPH3c.2367+38C>A (n.2367+38C>A)
c.2334+38C>A (n.2334+38C>A)
c.2157+38C>A (n.2157+38C>A)
c.2229+38C>A (n.2229+38C>A)
c.1578+38C>A (n.1578+38C>A)
n.2529+38C>A
n.2551+38C>A
 gnomAD v4
13g.59911697_59911698insTCACA2536169440DIAPH3c.2367+37_2367+38insTGA (n.2367+37_2367+38insTGA)
c.2334+37_2334+38insTGA (n.2334+37_2334+38insTGA)
c.2157+37_2157+38insTGA (n.2157+37_2157+38insTGA)
c.2229+37_2229+38insTGA (n.2229+37_2229+38insTGA)
c.1578+37_1578+38insTGA (n.1578+37_1578+38insTGA)
n.2529+37_2529+38insTGA
n.2551+37_2551+38insTGA
13g.59911698C>ACA2728459419DIAPH3c.2367+37G>T (n.2367+37G>T)
c.2334+37G>T (n.2334+37G>T)
c.2157+37G>T (n.2157+37G>T)
c.2229+37G>T (n.2229+37G>T)
c.1578+37G>T (n.1578+37G>T)
n.2529+37G>T
n.2551+37G>T
 dbSNP
13g.59911699A>GCA2728459421DIAPH3c.2367+36T>C (n.2367+36T>C)
c.2334+36T>C (n.2334+36T>C)
c.2157+36T>C (n.2157+36T>C)
c.2229+36T>C (n.2229+36T>C)
c.1578+36T>C (n.1578+36T>C)
n.2529+36T>C
n.2551+36T>C
 dbSNP
13g.59911700C=CA2095278578DIAPH3c.2367+35G= (n.2367+35G=)
c.2334+35G= (n.2334+35G=)
c.2157+35G= (n.2157+35G=)
c.2229+35G= (n.2229+35G=)
c.1578+35G= (n.1578+35G=)
n.2529+35G=
n.2551+35G=
13g.59911700C>TCA699640302DIAPH3c.2367+35G>A (n.2367+35G>A)
c.2334+35G>A (n.2334+35G>A)
c.2157+35G>A (n.2157+35G>A)
c.2229+35G>A (n.2229+35G>A)
c.1578+35G>A (n.1578+35G>A)
n.2529+35G>A
n.2551+35G>A
 dbSNP gnomAD v4
13g.59911701A=CA2095278580DIAPH3c.2367+34T= (n.2367+34T=)
c.2334+34T= (n.2334+34T=)
c.2157+34T= (n.2157+34T=)
c.2229+34T= (n.2229+34T=)
c.1578+34T= (n.1578+34T=)
n.2529+34T=
n.2551+34T=
13g.59911701A>GCA610296646DIAPH3c.2367+34T>C (n.2367+34T>C)
c.2334+34T>C (n.2334+34T>C)
c.2157+34T>C (n.2157+34T>C)
c.2229+34T>C (n.2229+34T>C)
c.1578+34T>C (n.1578+34T>C)
n.2529+34T>C
n.2551+34T>C
 dbSNP gnomAD v2 gnomAD v4
13g.59911702G>ACA610296649DIAPH3c.2367+33C>T (n.2367+33C>T)
c.2334+33C>T (n.2334+33C>T)
c.2157+33C>T (n.2157+33C>T)
c.2229+33C>T (n.2229+33C>T)
c.1578+33C>T (n.1578+33C>T)
n.2529+33C>T
n.2551+33C>T
 dbSNP gnomAD v2 gnomAD v4
13g.59911702G=CA2095278583DIAPH3c.2367+33C= (n.2367+33C=)
c.2334+33C= (n.2334+33C=)
c.2157+33C= (n.2157+33C=)
c.2229+33C= (n.2229+33C=)
c.1578+33C= (n.1578+33C=)
n.2529+33C=
n.2551+33C=
13g.59911702G>TCA2623205665DIAPH3c.2367+33C>A (n.2367+33C>A)
c.2334+33C>A (n.2334+33C>A)
c.2157+33C>A (n.2157+33C>A)
c.2229+33C>A (n.2229+33C>A)
c.1578+33C>A (n.1578+33C>A)
n.2529+33C>A
n.2551+33C>A
 gnomAD v4
13g.59911703T>CCA6996402DIAPH3c.2367+32A>G (n.2367+32A>G)
c.2334+32A>G (n.2334+32A>G)
c.2157+32A>G (n.2157+32A>G)
c.2229+32A>G (n.2229+32A>G)
c.1578+32A>G (n.1578+32A>G)
n.2529+32A>G
n.2551+32A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911703T=CA2095278585DIAPH3c.2367+32A= (n.2367+32A=)
c.2334+32A= (n.2334+32A=)
c.2157+32A= (n.2157+32A=)
c.2229+32A= (n.2229+32A=)
c.1578+32A= (n.1578+32A=)
n.2529+32A=
n.2551+32A=
13g.59911704delCA2623205666DIAPH3c.2367+31del (n.2367+31del)
c.2334+31del (n.2334+31del)
c.2157+31del (n.2157+31del)
c.2229+31del (n.2229+31del)
c.1578+31del (n.1578+31del)
n.2529+31del
n.2551+31del
 gnomAD v4
13g.59911705T>CCA2547175023DIAPH3c.2367+30A>G (n.2367+30A>G)
c.2334+30A>G (n.2334+30A>G)
c.2157+30A>G (n.2157+30A>G)
c.2229+30A>G (n.2229+30A>G)
c.1578+30A>G (n.1578+30A>G)
n.2529+30A>G
n.2551+30A>G
 gnomAD v4
13g.59911706A>GCA2623205668DIAPH3c.2367+29T>C (n.2367+29T>C)
c.2334+29T>C (n.2334+29T>C)
c.2157+29T>C (n.2157+29T>C)
c.2229+29T>C (n.2229+29T>C)
c.1578+29T>C (n.1578+29T>C)
n.2529+29T>C
n.2551+29T>C
 gnomAD v4
13g.59911710dupCA2623205667DIAPH3c.2367+29dup (n.2367+29dup)
c.2334+29dup (n.2334+29dup)
c.2157+29dup (n.2157+29dup)
c.2229+29dup (n.2229+29dup)
c.1578+29dup (n.1578+29dup)
n.2529+29dup
n.2551+29dup
 gnomAD v4
13g.59911712C>GCA2575424176DIAPH3c.2367+23G>C (n.2367+23G>C)
c.2334+23G>C (n.2334+23G>C)
c.2157+23G>C (n.2157+23G>C)
c.2229+23G>C (n.2229+23G>C)
c.1578+23G>C (n.1578+23G>C)
n.2529+23G>C
n.2551+23G>C
13g.59911713C=CA2095278587DIAPH3c.2367+22G= (n.2367+22G=)
c.2334+22G= (n.2334+22G=)
c.2157+22G= (n.2157+22G=)
c.2229+22G= (n.2229+22G=)
c.1578+22G= (n.1578+22G=)
n.2529+22G=
n.2551+22G=
13g.59911713C>TCA6996403DIAPH3c.2367+22G>A (n.2367+22G>A)
c.2334+22G>A (n.2334+22G>A)
c.2157+22G>A (n.2157+22G>A)
c.2229+22G>A (n.2229+22G>A)
c.1578+22G>A (n.1578+22G>A)
n.2529+22G>A
n.2551+22G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911714T>CCA2527302779DIAPH3c.2367+21A>G (n.2367+21A>G)
c.2334+21A>G (n.2334+21A>G)
c.2157+21A>G (n.2157+21A>G)
c.2229+21A>G (n.2229+21A>G)
c.1578+21A>G (n.1578+21A>G)
n.2529+21A>G
n.2551+21A>G
13g.59911715C>GCA2623205669DIAPH3c.2367+20G>C (n.2367+20G>C)
c.2334+20G>C (n.2334+20G>C)
c.2157+20G>C (n.2157+20G>C)
c.2229+20G>C (n.2229+20G>C)
c.1578+20G>C (n.1578+20G>C)
n.2529+20G>C
n.2551+20G>C
 gnomAD v4
13g.59911716T>CCA699640308DIAPH3c.2367+19A>G (n.2367+19A>G)
c.2334+19A>G (n.2334+19A>G)
c.2157+19A>G (n.2157+19A>G)
c.2229+19A>G (n.2229+19A>G)
c.1578+19A>G (n.1578+19A>G)
n.2529+19A>G
n.2551+19A>G
 dbSNP
13g.59911716T=CA2095278589DIAPH3c.2367+19A= (n.2367+19A=)
c.2334+19A= (n.2334+19A=)
c.2157+19A= (n.2157+19A=)
c.2229+19A= (n.2229+19A=)
c.1578+19A= (n.1578+19A=)
n.2529+19A=
n.2551+19A=
13g.59911717_59911718insCAAAGAGGGCAGACACCA2537915959DIAPH3c.2367+18_2367+19insTGTCTGCCCTCTTTGG (n.2367+18_2367+19insTGTCTGCCCTCTTTGG)
c.2334+18_2334+19insTGTCTGCCCTCTTTGG (n.2334+18_2334+19insTGTCTGCCCTCTTTGG)
c.2157+18_2157+19insTGTCTGCCCTCTTTGG (n.2157+18_2157+19insTGTCTGCCCTCTTTGG)
c.2229+18_2229+19insTGTCTGCCCTCTTTGG (n.2229+18_2229+19insTGTCTGCCCTCTTTGG)
c.1578+18_1578+19insTGTCTGCCCTCTTTGG (n.1578+18_1578+19insTGTCTGCCCTCTTTGG)
n.2529+18_2529+19insTGTCTGCCCTCTTTGG
n.2551+18_2551+19insTGTCTGCCCTCTTTGG
13g.59911718T>GCA2623205671DIAPH3c.2367+17A>C (n.2367+17A>C)
c.2334+17A>C (n.2334+17A>C)
c.2157+17A>C (n.2157+17A>C)
c.2229+17A>C (n.2229+17A>C)
c.1578+17A>C (n.1578+17A>C)
n.2529+17A>C
n.2551+17A>C
 gnomAD v4
13g.59911718dupCA2623205670DIAPH3c.2367+17dup (n.2367+17dup)
c.2334+17dup (n.2334+17dup)
c.2157+17dup (n.2157+17dup)
c.2229+17dup (n.2229+17dup)
c.1578+17dup (n.1578+17dup)
n.2529+17dup
n.2551+17dup
 gnomAD v4
13g.59911719G>ACA2575424177DIAPH3c.2367+16C>T (n.2367+16C>T)
c.2334+16C>T (n.2334+16C>T)
c.2157+16C>T (n.2157+16C>T)
c.2229+16C>T (n.2229+16C>T)
c.1578+16C>T (n.1578+16C>T)
n.2529+16C>T
n.2551+16C>T
13g.59911719G>TCA2623205672DIAPH3c.2367+16C>A (n.2367+16C>A)
c.2334+16C>A (n.2334+16C>A)
c.2157+16C>A (n.2157+16C>A)
c.2229+16C>A (n.2229+16C>A)
c.1578+16C>A (n.1578+16C>A)
n.2529+16C>A
n.2551+16C>A
 gnomAD v4
13g.59911720_59911725delinsAGACTCCA2095278590DIAPH3c.2367+10_2367+15delinsGAGTCT (n.2367+10_2367+15delinsGAGTCT)
c.2334+10_2334+15delinsGAGTCT (n.2334+10_2334+15delinsGAGTCT)
c.2157+10_2157+15delinsGAGTCT (n.2157+10_2157+15delinsGAGTCT)
c.2229+10_2229+15delinsGAGTCT (n.2229+10_2229+15delinsGAGTCT)
c.1578+10_1578+15delinsGAGTCT (n.1578+10_1578+15delinsGAGTCT)
n.2529+10_2529+15delinsGAGTCT
n.2551+10_2551+15delinsGAGTCT
13g.59911721G>ACA2575424178DIAPH3c.2367+14C>T (n.2367+14C>T)
c.2334+14C>T (n.2334+14C>T)
c.2157+14C>T (n.2157+14C>T)
c.2229+14C>T (n.2229+14C>T)
c.1578+14C>T (n.1578+14C>T)
n.2529+14C>T
n.2551+14C>T
 gnomAD v4
13g.59911721G>CCA610296653DIAPH3c.2367+14C>G (n.2367+14C>G)
c.2334+14C>G (n.2334+14C>G)
c.2157+14C>G (n.2157+14C>G)
c.2229+14C>G (n.2229+14C>G)
c.1578+14C>G (n.1578+14C>G)
n.2529+14C>G
n.2551+14C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.59911721G=CA2095278592DIAPH3c.2367+14C= (n.2367+14C=)
c.2334+14C= (n.2334+14C=)
c.2157+14C= (n.2157+14C=)
c.2229+14C= (n.2229+14C=)
c.1578+14C= (n.1578+14C=)
n.2529+14C=
n.2551+14C=
13g.59911721G>TCA654855740DIAPH3c.2367+14C>A (n.2367+14C>A)
c.2334+14C>A (n.2334+14C>A)
c.2157+14C>A (n.2157+14C>A)
c.2229+14C>A (n.2229+14C>A)
c.1578+14C>A (n.1578+14C>A)
n.2529+14C>A
n.2551+14C>A
 COSMIC
13g.59911722_59911726delCA956587831DIAPH3c.2367+10_2367+14del (n.2367+10_2367+14del)
c.2334+10_2334+14del (n.2334+10_2334+14del)
c.2157+10_2157+14del (n.2157+10_2157+14del)
c.2229+10_2229+14del (n.2229+10_2229+14del)
c.1578+10_1578+14del (n.1578+10_1578+14del)
n.2529+10_2529+14del
n.2551+10_2551+14del
 dbSNP gnomAD v3 gnomAD v4
13g.59911722A=CA2095278594DIAPH3c.2367+13T= (n.2367+13T=)
c.2334+13T= (n.2334+13T=)
c.2157+13T= (n.2157+13T=)
c.2229+13T= (n.2229+13T=)
c.1578+13T= (n.1578+13T=)
n.2529+13T=
n.2551+13T=
13g.59911722A>GCA610296655DIAPH3c.2367+13T>C (n.2367+13T>C)
c.2334+13T>C (n.2334+13T>C)
c.2157+13T>C (n.2157+13T>C)
c.2229+13T>C (n.2229+13T>C)
c.1578+13T>C (n.1578+13T>C)
n.2529+13T>C
n.2551+13T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.59911723C>ACA2095278597DIAPH3c.2367+12G>T (n.2367+12G>T)
c.2334+12G>T (n.2334+12G>T)
c.2157+12G>T (n.2157+12G>T)
c.2229+12G>T (n.2229+12G>T)
c.1578+12G>T (n.1578+12G>T)
n.2529+12G>T
n.2551+12G>T
 dbSNP
13g.59911723C=CA2095278596DIAPH3c.2367+12G= (n.2367+12G=)
c.2334+12G= (n.2334+12G=)
c.2157+12G= (n.2157+12G=)
c.2229+12G= (n.2229+12G=)
c.1578+12G= (n.1578+12G=)
n.2529+12G=
n.2551+12G=
13g.59911723C>GCA2572299003DIAPH3c.2367+12G>C (n.2367+12G>C)
c.2334+12G>C (n.2334+12G>C)
c.2157+12G>C (n.2157+12G>C)
c.2229+12G>C (n.2229+12G>C)
c.1578+12G>C (n.1578+12G>C)
n.2529+12G>C
n.2551+12G>C
13g.59911723C>TCA2623205673DIAPH3c.2367+12G>A (n.2367+12G>A)
c.2334+12G>A (n.2334+12G>A)
c.2157+12G>A (n.2157+12G>A)
c.2229+12G>A (n.2229+12G>A)
c.1578+12G>A (n.1578+12G>A)
n.2529+12G>A
n.2551+12G>A
 gnomAD v4
13g.59911724T>ACA2530150593DIAPH3c.2367+11A>T (n.2367+11A>T)
c.2334+11A>T (n.2334+11A>T)
c.2157+11A>T (n.2157+11A>T)
c.2229+11A>T (n.2229+11A>T)
c.1578+11A>T (n.1578+11A>T)
n.2529+11A>T
n.2551+11A>T
13g.59911725C=CA2095278603DIAPH3c.2367+10G= (n.2367+10G=)
c.2334+10G= (n.2334+10G=)
c.2157+10G= (n.2157+10G=)
c.2229+10G= (n.2229+10G=)
c.1578+10G= (n.1578+10G=)
n.2529+10G=
n.2551+10G=
13g.59911725C>TCA6996404DIAPH3c.2367+10G>A (n.2367+10G>A)
c.2334+10G>A (n.2334+10G>A)
c.2157+10G>A (n.2157+10G>A)
c.2229+10G>A (n.2229+10G>A)
c.1578+10G>A (n.1578+10G>A)
n.2529+10G>A
n.2551+10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911726G>ACA6996405DIAPH3c.2367+9C>T (n.2367+9C>T)
c.2334+9C>T (n.2334+9C>T)
c.2157+9C>T (n.2157+9C>T)
c.2229+9C>T (n.2229+9C>T)
c.1578+9C>T (n.1578+9C>T)
n.2529+9C>T
n.2551+9C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911726G=CA2095278605DIAPH3c.2367+9C= (n.2367+9C=)
c.2334+9C= (n.2334+9C=)
c.2157+9C= (n.2157+9C=)
c.2229+9C= (n.2229+9C=)
c.1578+9C= (n.1578+9C=)
n.2529+9C=
n.2551+9C=
13g.59911729A>GCA2623205674DIAPH3c.2367+6T>C (n.2367+6T>C)
c.2334+6T>C (n.2334+6T>C)
c.2157+6T>C (n.2157+6T>C)
c.2229+6T>C (n.2229+6T>C)
c.1578+6T>C (n.1578+6T>C)
n.2529+6T>C
n.2551+6T>C
 gnomAD v4
13g.59911730C=CA2095278608DIAPH3c.2367+5G= (n.2367+5G=)
c.2334+5G= (n.2334+5G=)
c.2157+5G= (n.2157+5G=)
c.2229+5G= (n.2229+5G=)
c.1578+5G= (n.1578+5G=)
n.2529+5G=
n.2551+5G=
13g.59911730C>TCA610296659DIAPH3c.2367+5G>A (n.2367+5G>A)
c.2334+5G>A (n.2334+5G>A)
c.2157+5G>A (n.2157+5G>A)
c.2229+5G>A (n.2229+5G>A)
c.1578+5G>A (n.1578+5G>A)
n.2529+5G>A
n.2551+5G>A
 dbSNP gnomAD v2 gnomAD v4
13g.59911731T>CCA250956559DIAPH3c.2367+4A>G (n.2367+4A>G)
c.2334+4A>G (n.2334+4A>G)
c.2157+4A>G (n.2157+4A>G)
c.2229+4A>G (n.2229+4A>G)
c.1578+4A>G (n.1578+4A>G)
n.2529+4A>G
n.2551+4A>G
 dbSNP gnomAD v4
13g.59911731T=CA2095278610DIAPH3c.2367+4A= (n.2367+4A=)
c.2334+4A= (n.2334+4A=)
c.2157+4A= (n.2157+4A=)
c.2229+4A= (n.2229+4A=)
c.1578+4A= (n.1578+4A=)
n.2529+4A=
n.2551+4A=
13g.59911732T>CCA2623205675DIAPH3c.2367+3A>G (n.2367+3A>G)
c.2334+3A>G (n.2334+3A>G)
c.2157+3A>G (n.2157+3A>G)
c.2229+3A>G (n.2229+3A>G)
c.1578+3A>G (n.1578+3A>G)
n.2529+3A>G
n.2551+3A>G
 gnomAD v4
13g.59911733A>CCA388330765DIAPH3c.2367+2T>G (n.2367+2T>G)
c.2334+2T>G (n.2334+2T>G)
c.2157+2T>G (n.2157+2T>G)
c.2229+2T>G (n.2229+2T>G)
c.1578+2T>G (n.1578+2T>G)
n.2529+2T>G
n.2551+2T>G
13g.59911733A>GCA388330766DIAPH3c.2367+2T>C (n.2367+2T>C)
c.2334+2T>C (n.2334+2T>C)
c.2157+2T>C (n.2157+2T>C)
c.2229+2T>C (n.2229+2T>C)
c.1578+2T>C (n.1578+2T>C)
n.2529+2T>C
n.2551+2T>C
13g.59911733A>TCA388330767DIAPH3c.2367+2T>A (n.2367+2T>A)
c.2334+2T>A (n.2334+2T>A)
c.2157+2T>A (n.2157+2T>A)
c.2229+2T>A (n.2229+2T>A)
c.1578+2T>A (n.1578+2T>A)
n.2529+2T>A
n.2551+2T>A
13g.59911740_59911745delCA2575424179DIAPH3c.2364_2367+2del
c.2331_2334+2del
c.2154_2157+2del
c.2226_2229+2del
c.1575_1578+2del
n.2526_2529+2del
n.2548_2551+2del
13g.59911734C>ACA388330768DIAPH3c.2367+1G>T (n.2367+1G>T)
c.2334+1G>T (n.2334+1G>T)
c.2157+1G>T (n.2157+1G>T)
c.2229+1G>T (n.2229+1G>T)
c.1578+1G>T (n.1578+1G>T)
n.2529+1G>T
n.2551+1G>T
13g.59911734C>GCA388330769DIAPH3c.2367+1G>C (n.2367+1G>C)
c.2334+1G>C (n.2334+1G>C)
c.2157+1G>C (n.2157+1G>C)
c.2229+1G>C (n.2229+1G>C)
c.1578+1G>C (n.1578+1G>C)
n.2529+1G>C
n.2551+1G>C
13g.59911734C>TCA388330770DIAPH3c.2367+1G>A (n.2367+1G>A)
c.2334+1G>A (n.2334+1G>A)
c.2157+1G>A (n.2157+1G>A)
c.2229+1G>A (n.2229+1G>A)
c.1578+1G>A (n.1578+1G>A)
n.2529+1G>A
n.2551+1G>A
13g.59911735C>ACA484003282DIAPH3c.2367G>T (p.Val789=)
c.2334G>T (p.Val778=)
c.2157G>T (p.Val719=)
c.2229G>T (p.Val743=)
c.1578G>T (p.Val526=)
n.2529G>T
n.2551G>T
13g.59911735C>GCA484003283DIAPH3c.2367G>C (p.Val789=)
c.2334G>C (p.Val778=)
c.2157G>C (p.Val719=)
c.2229G>C (p.Val743=)
c.1578G>C (p.Val526=)
n.2529G>C
n.2551G>C
13g.59911735C>TCA484003284DIAPH3c.2367G>A (p.Val789=)
c.2334G>A (p.Val778=)
c.2157G>A (p.Val719=)
c.2229G>A (p.Val743=)
c.1578G>A (p.Val526=)
n.2529G>A
n.2551G>A
13g.59911736delCA2623205676DIAPH3c.2366del (p.Val789GlyfsTer2)
c.2333del (p.Val778GlyfsTer2)
c.2156del (p.Val719GlyfsTer2)
c.2228del (p.Val743GlyfsTer2)
c.1577del (p.Val526GlyfsTer2)
n.2528del
n.2550del
 gnomAD v4
13g.59911736A>CCA388330771DIAPH3c.2366T>G (p.Val789Gly)
c.2333T>G (p.Val778Gly)
c.2156T>G (p.Val719Gly)
c.2228T>G (p.Val743Gly)
c.1577T>G (p.Val526Gly)
n.2528T>G
n.2550T>G
13g.59911736A>GCA388330772DIAPH3c.2366T>C (p.Val789Ala)
c.2333T>C (p.Val778Ala)
c.2156T>C (p.Val719Ala)
c.2228T>C (p.Val743Ala)
c.1577T>C (p.Val526Ala)
n.2528T>C
n.2550T>C
13g.59911736A>TCA388330773DIAPH3c.2366T>A (p.Val789Glu)
c.2333T>A (p.Val778Glu)
c.2156T>A (p.Val719Glu)
c.2228T>A (p.Val743Glu)
c.1577T>A (p.Val526Glu)
n.2528T>A
n.2550T>A
13g.59911737C>ACA388330774DIAPH3c.2365G>T (p.Val789Leu)
c.2332G>T (p.Val778Leu)
c.2155G>T (p.Val719Leu)
c.2227G>T (p.Val743Leu)
c.1576G>T (p.Val526Leu)
n.2527G>T
n.2549G>T
13g.59911737C>GCA388330775DIAPH3c.2365G>C (p.Val789Leu)
c.2332G>C (p.Val778Leu)
c.2155G>C (p.Val719Leu)
c.2227G>C (p.Val743Leu)
c.1576G>C (p.Val526Leu)
n.2527G>C
n.2549G>C
13g.59911737C>TCA388330776DIAPH3c.2365G>A (p.Val789Met)
c.2332G>A (p.Val778Met)
c.2155G>A (p.Val719Met)
c.2227G>A (p.Val743Met)
c.1576G>A (p.Val526Met)
n.2527G>A
n.2549G>A
13g.59911738A>CCA484003287DIAPH3c.2364T>G (p.Val788=)
c.2331T>G (p.Val777=)
c.2154T>G (p.Val718=)
c.2226T>G (p.Val742=)
c.1575T>G (p.Val525=)
n.2526T>G
n.2548T>G
13g.59911738A>GCA484003285DIAPH3c.2364T>C (p.Val788=)
c.2331T>C (p.Val777=)
c.2154T>C (p.Val718=)
c.2226T>C (p.Val742=)
c.1575T>C (p.Val525=)
n.2526T>C
n.2548T>C
 COSMIC
13g.59911738A>TCA484003286DIAPH3c.2364T>A (p.Val788=)
c.2331T>A (p.Val777=)
c.2154T>A (p.Val718=)
c.2226T>A (p.Val742=)
c.1575T>A (p.Val525=)
n.2526T>A
n.2548T>A
13g.59911739A>CCA388330779DIAPH3c.2363T>G (p.Val788Gly)
c.2330T>G (p.Val777Gly)
c.2153T>G (p.Val718Gly)
c.2225T>G (p.Val742Gly)
c.1574T>G (p.Val525Gly)
n.2525T>G
n.2547T>G
13g.59911739A>GCA388330778DIAPH3c.2363T>C (p.Val788Ala)
c.2330T>C (p.Val777Ala)
c.2153T>C (p.Val718Ala)
c.2225T>C (p.Val742Ala)
c.1574T>C (p.Val525Ala)
n.2525T>C
n.2547T>C
 gnomAD v4
13g.59911739A>TCA388330777DIAPH3c.2363T>A (p.Val788Asp)
c.2330T>A (p.Val777Asp)
c.2153T>A (p.Val718Asp)
c.2225T>A (p.Val742Asp)
c.1574T>A (p.Val525Asp)
n.2525T>A
n.2547T>A
 gnomAD v4
13g.59911740C>ACA388330781DIAPH3c.2362G>T (p.Val788Phe)
c.2329G>T (p.Val777Phe)
c.2152G>T (p.Val718Phe)
c.2224G>T (p.Val742Phe)
c.1573G>T (p.Val525Phe)
n.2524G>T
n.2546G>T
13g.59911740C=CA2095278613DIAPH3c.2362G= (p.Val788=)
c.2329G= (p.Val777=)
c.2152G= (p.Val718=)
c.2224G= (p.Val742=)
c.1573G= (p.Val525=)
n.2524G=
n.2546G=
13g.59911740C>GCA388330780DIAPH3c.2362G>C (p.Val788Leu)
c.2329G>C (p.Val777Leu)
c.2152G>C (p.Val718Leu)
c.2224G>C (p.Val742Leu)
c.1573G>C (p.Val525Leu)
n.2524G>C
n.2546G>C
13g.59911740C>TCA250956560DIAPH3c.2362G>A (p.Val788Ile)
c.2329G>A (p.Val777Ile)
c.2152G>A (p.Val718Ile)
c.2224G>A (p.Val742Ile)
c.1573G>A (p.Val525Ile)
n.2524G>A
n.2546G>A
 dbSNP gnomAD v3 gnomAD v4
13g.59911741C>ACA484003288DIAPH3c.2361G>T (p.Val787=)
c.2328G>T (p.Val776=)
c.2151G>T (p.Val717=)
c.2223G>T (p.Val741=)
c.1572G>T (p.Val524=)
n.2523G>T
n.2545G>T
13g.59911741C>GCA484003289DIAPH3c.2361G>C (p.Val787=)
c.2328G>C (p.Val776=)
c.2151G>C (p.Val717=)
c.2223G>C (p.Val741=)
c.1572G>C (p.Val524=)
n.2523G>C
n.2545G>C
13g.59911741C>TCA484003290DIAPH3c.2361G>A (p.Val787=)
c.2328G>A (p.Val776=)
c.2151G>A (p.Val717=)
c.2223G>A (p.Val741=)
c.1572G>A (p.Val524=)
n.2523G>A
n.2545G>A
13g.59911742A>CCA388330782DIAPH3c.2360T>G (p.Val787Gly)
c.2327T>G (p.Val776Gly)
c.2150T>G (p.Val717Gly)
c.2222T>G (p.Val741Gly)
c.1571T>G (p.Val524Gly)
n.2522T>G
n.2544T>G
 gnomAD v4
13g.59911742A>GCA388330783DIAPH3c.2360T>C (p.Val787Ala)
c.2327T>C (p.Val776Ala)
c.2150T>C (p.Val717Ala)
c.2222T>C (p.Val741Ala)
c.1571T>C (p.Val524Ala)
n.2522T>C
n.2544T>C
 dbSNP
13g.59911742A>TCA388330784DIAPH3c.2360T>A (p.Val787Glu)
c.2327T>A (p.Val776Glu)
c.2150T>A (p.Val717Glu)
c.2222T>A (p.Val741Glu)
c.1571T>A (p.Val524Glu)
n.2522T>A
n.2544T>A
13g.59911743C>ACA6996406DIAPH3c.2359G>T (p.Val787Leu)
c.2326G>T (p.Val776Leu)
c.2149G>T (p.Val717Leu)
c.2221G>T (p.Val741Leu)
c.1570G>T (p.Val524Leu)
n.2521G>T
n.2543G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911743C=CA2095278617DIAPH3c.2359G= (p.Val787=)
c.2326G= (p.Val776=)
c.2149G= (p.Val717=)
c.2221G= (p.Val741=)
c.1570G= (p.Val524=)
n.2521G=
n.2543G=
13g.59911743C>GCA388330785DIAPH3c.2359G>C (p.Val787Leu)
c.2326G>C (p.Val776Leu)
c.2149G>C (p.Val717Leu)
c.2221G>C (p.Val741Leu)
c.1570G>C (p.Val524Leu)
n.2521G>C
n.2543G>C
13g.59911743C>TCA6996407DIAPH3c.2359G>A (p.Val787Met)
c.2326G>A (p.Val776Met)
c.2149G>A (p.Val717Met)
c.2221G>A (p.Val741Met)
c.1570G>A (p.Val524Met)
n.2521G>A
n.2543G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911744A>CCA388330786DIAPH3c.2358T>G (p.Phe786Leu)
c.2325T>G (p.Phe775Leu)
c.2148T>G (p.Phe716Leu)
c.2220T>G (p.Phe740Leu)
c.1569T>G (p.Phe523Leu)
n.2520T>G
n.2542T>G
 gnomAD v4
13g.59911744A>GCA484003291DIAPH3c.2358T>C (p.Phe786=)
c.2325T>C (p.Phe775=)
c.2148T>C (p.Phe716=)
c.2220T>C (p.Phe740=)
c.1569T>C (p.Phe523=)
n.2520T>C
n.2542T>C
13g.59911744A>TCA388330787DIAPH3c.2358T>A (p.Phe786Leu)
c.2325T>A (p.Phe775Leu)
c.2148T>A (p.Phe716Leu)
c.2220T>A (p.Phe740Leu)
c.1569T>A (p.Phe523Leu)
n.2520T>A
n.2542T>A
 gnomAD v4
13g.59911745A=CA2095278621DIAPH3c.2357T= (p.Phe786=)
c.2324T= (p.Phe775=)
c.2147T= (p.Phe716=)
c.2219T= (p.Phe740=)
c.1568T= (p.Phe523=)
n.2519T=
n.2541T=
13g.59911745A>CCA388330788DIAPH3c.2357T>G (p.Phe786Cys)
c.2324T>G (p.Phe775Cys)
c.2147T>G (p.Phe716Cys)
c.2219T>G (p.Phe740Cys)
c.1568T>G (p.Phe523Cys)
n.2519T>G
n.2541T>G
 gnomAD v4
13g.59911745A>GCA250956561DIAPH3c.2357T>C (p.Phe786Ser)
c.2324T>C (p.Phe775Ser)
c.2147T>C (p.Phe716Ser)
c.2219T>C (p.Phe740Ser)
c.1568T>C (p.Phe523Ser)
n.2519T>C
n.2541T>C
 dbSNP
13g.59911745A>TCA388330789DIAPH3c.2357T>A (p.Phe786Tyr)
c.2324T>A (p.Phe775Tyr)
c.2147T>A (p.Phe716Tyr)
c.2219T>A (p.Phe740Tyr)
c.1568T>A (p.Phe523Tyr)
n.2519T>A
n.2541T>A
13g.59911746A>CCA388330792DIAPH3c.2356T>G (p.Phe786Val)
c.2323T>G (p.Phe775Val)
c.2146T>G (p.Phe716Val)
c.2218T>G (p.Phe740Val)
c.1567T>G (p.Phe523Val)
n.2518T>G
n.2540T>G
13g.59911746A>GCA388330790DIAPH3c.2356T>C (p.Phe786Leu)
c.2323T>C (p.Phe775Leu)
c.2146T>C (p.Phe716Leu)
c.2218T>C (p.Phe740Leu)
c.1567T>C (p.Phe523Leu)
n.2518T>C
n.2540T>C
13g.59911746A>TCA388330791DIAPH3c.2356T>A (p.Phe786Ile)
c.2323T>A (p.Phe775Ile)
c.2146T>A (p.Phe716Ile)
c.2218T>A (p.Phe740Ile)
c.1567T>A (p.Phe523Ile)
n.2518T>A
n.2540T>A
13g.59911747C>ACA388330793DIAPH3c.2355G>T (p.Gln785His)
c.2322G>T (p.Gln774His)
c.2145G>T (p.Gln715His)
c.2217G>T (p.Gln739His)
c.1566G>T (p.Gln522His)
n.2517G>T
n.2539G>T
13g.59911747C>GCA388330794DIAPH3c.2355G>C (p.Gln785His)
c.2322G>C (p.Gln774His)
c.2145G>C (p.Gln715His)
c.2217G>C (p.Gln739His)
c.1566G>C (p.Gln522His)
n.2517G>C
n.2539G>C
 gnomAD v4
13g.59911747C>TCA484003292DIAPH3c.2355G>A (p.Gln785=)
c.2322G>A (p.Gln774=)
c.2145G>A (p.Gln715=)
c.2217G>A (p.Gln739=)
c.1566G>A (p.Gln522=)
n.2517G>A
n.2539G>A
13g.59911748T>ACA388330795DIAPH3c.2354A>T (p.Gln785Leu)
c.2321A>T (p.Gln774Leu)
c.2144A>T (p.Gln715Leu)
c.2216A>T (p.Gln739Leu)
c.1565A>T (p.Gln522Leu)
n.2516A>T
n.2538A>T
 COSMIC
13g.59911748T>CCA6996408DIAPH3c.2354A>G (p.Gln785Arg)
c.2321A>G (p.Gln774Arg)
c.2144A>G (p.Gln715Arg)
c.2216A>G (p.Gln739Arg)
c.1565A>G (p.Gln522Arg)
n.2516A>G
n.2538A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911748T>GCA388330796DIAPH3c.2354A>C (p.Gln785Pro)
c.2321A>C (p.Gln774Pro)
c.2144A>C (p.Gln715Pro)
c.2216A>C (p.Gln739Pro)
c.1565A>C (p.Gln522Pro)
n.2516A>C
n.2538A>C
13g.59911748T=CA2095278626DIAPH3c.2354A= (p.Gln785=)
c.2321A= (p.Gln774=)
c.2144A= (p.Gln715=)
c.2216A= (p.Gln739=)
c.1565A= (p.Gln522=)
n.2516A=
n.2538A=
13g.59911749G>ACA388330797DIAPH3c.2353C>T (p.Gln785Ter)
c.2320C>T (p.Gln774Ter)
c.2143C>T (p.Gln715Ter)
c.2215C>T (p.Gln739Ter)
c.1564C>T (p.Gln522Ter)
n.2515C>T
n.2537C>T
13g.59911749G>CCA388330798DIAPH3c.2353C>G (p.Gln785Glu)
c.2320C>G (p.Gln774Glu)
c.2143C>G (p.Gln715Glu)
c.2215C>G (p.Gln739Glu)
c.1564C>G (p.Gln522Glu)
n.2515C>G
n.2537C>G
 dbSNP
13g.59911749G=CA2095278630DIAPH3c.2353C= (p.Gln785=)
c.2320C= (p.Gln774=)
c.2143C= (p.Gln715=)
c.2215C= (p.Gln739=)
c.1564C= (p.Gln522=)
n.2515C=
n.2537C=
13g.59911749G>TCA250956562DIAPH3c.2353C>A (p.Gln785Lys)
c.2320C>A (p.Gln774Lys)
c.2143C>A (p.Gln715Lys)
c.2215C>A (p.Gln739Lys)
c.1564C>A (p.Gln522Lys)
n.2515C>A
n.2537C>A
 dbSNP gnomAD v4
13g.59911750C>ACA388330799DIAPH3c.2352G>T (p.Glu784Asp)
c.2319G>T (p.Glu773Asp)
c.2142G>T (p.Glu714Asp)
c.2214G>T (p.Glu738Asp)
c.1563G>T (p.Glu521Asp)
n.2514G>T
n.2536G>T
13g.59911750C>GCA388330800DIAPH3c.2352G>C (p.Glu784Asp)
c.2319G>C (p.Glu773Asp)
c.2142G>C (p.Glu714Asp)
c.2214G>C (p.Glu738Asp)
c.1563G>C (p.Glu521Asp)
n.2514G>C
n.2536G>C
13g.59911750C>TCA484003293DIAPH3c.2352G>A (p.Glu784=)
c.2319G>A (p.Glu773=)
c.2142G>A (p.Glu714=)
c.2214G>A (p.Glu738=)
c.1563G>A (p.Glu521=)
n.2514G>A
n.2536G>A
13g.59911751T>ACA388330801DIAPH3c.2351A>T (p.Glu784Val)
c.2318A>T (p.Glu773Val)
c.2141A>T (p.Glu714Val)
c.2213A>T (p.Glu738Val)
c.1562A>T (p.Glu521Val)
n.2513A>T
n.2535A>T
13g.59911751T>CCA388330802DIAPH3c.2351A>G (p.Glu784Gly)
c.2318A>G (p.Glu773Gly)
c.2141A>G (p.Glu714Gly)
c.2213A>G (p.Glu738Gly)
c.1562A>G (p.Glu521Gly)
n.2513A>G
n.2535A>G
13g.59911751T>GCA388330803DIAPH3c.2351A>C (p.Glu784Ala)
c.2318A>C (p.Glu773Ala)
c.2141A>C (p.Glu714Ala)
c.2213A>C (p.Glu738Ala)
c.1562A>C (p.Glu521Ala)
n.2513A>C
n.2535A>C
13g.59911752C>ACA250956563DIAPH3c.2350G>T (p.Glu784Ter)
c.2317G>T (p.Glu773Ter)
c.2140G>T (p.Glu714Ter)
c.2212G>T (p.Glu738Ter)
c.1561G>T (p.Glu521Ter)
n.2512G>T
n.2534G>T
 dbSNP
13g.59911752C=CA2095278632DIAPH3c.2350G= (p.Glu784=)
c.2317G= (p.Glu773=)
c.2140G= (p.Glu714=)
c.2212G= (p.Glu738=)
c.1561G= (p.Glu521=)
n.2512G=
n.2534G=
13g.59911752C>GCA388330805DIAPH3c.2350G>C (p.Glu784Gln)
c.2317G>C (p.Glu773Gln)
c.2140G>C (p.Glu714Gln)
c.2212G>C (p.Glu738Gln)
c.1561G>C (p.Glu521Gln)
n.2512G>C
n.2534G>C
13g.59911752C>TCA388330804DIAPH3c.2350G>A (p.Glu784Lys)
c.2317G>A (p.Glu773Lys)
c.2140G>A (p.Glu714Lys)
c.2212G>A (p.Glu738Lys)
c.1561G>A (p.Glu521Lys)
n.2512G>A
n.2534G>A
 COSMIC
13g.59911753A>CCA484003294DIAPH3c.2349T>G (p.Pro783=)
c.2316T>G (p.Pro772=)
c.2139T>G (p.Pro713=)
c.2211T>G (p.Pro737=)
c.1560T>G (p.Pro520=)
n.2511T>G
n.2533T>G
13g.59911753A>GCA484003295DIAPH3c.2349T>C (p.Pro783=)
c.2316T>C (p.Pro772=)
c.2139T>C (p.Pro713=)
c.2211T>C (p.Pro737=)
c.1560T>C (p.Pro520=)
n.2511T>C
n.2533T>C
13g.59911753A>TCA484003296DIAPH3c.2349T>A (p.Pro783=)
c.2316T>A (p.Pro772=)
c.2139T>A (p.Pro713=)
c.2211T>A (p.Pro737=)
c.1560T>A (p.Pro520=)
n.2511T>A
n.2533T>A
13g.59911754G>ACA388330806DIAPH3c.2348C>T (p.Pro783Leu)
c.2315C>T (p.Pro772Leu)
c.2138C>T (p.Pro713Leu)
c.2210C>T (p.Pro737Leu)
c.1559C>T (p.Pro520Leu)
n.2510C>T
n.2532C>T
13g.59911754G>CCA6996409DIAPH3c.2348C>G (p.Pro783Arg)
c.2315C>G (p.Pro772Arg)
c.2138C>G (p.Pro713Arg)
c.2210C>G (p.Pro737Arg)
c.1559C>G (p.Pro520Arg)
n.2510C>G
n.2532C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911754G=CA2095278635DIAPH3c.2348C= (p.Pro783=)
c.2315C= (p.Pro772=)
c.2138C= (p.Pro713=)
c.2210C= (p.Pro737=)
c.1559C= (p.Pro520=)
n.2510C=
n.2532C=
13g.59911754G>TCA388330807DIAPH3c.2348C>A (p.Pro783His)
c.2315C>A (p.Pro772His)
c.2138C>A (p.Pro713His)
c.2210C>A (p.Pro737His)
c.1559C>A (p.Pro520His)
n.2510C>A
n.2532C>A
13g.59911755G>ACA250956564DIAPH3c.2347C>T (p.Pro783Ser)
c.2314C>T (p.Pro772Ser)
c.2137C>T (p.Pro713Ser)
c.2209C>T (p.Pro737Ser)
c.1558C>T (p.Pro520Ser)
n.2509C>T
n.2531C>T
 dbSNP gnomAD v4
13g.59911755G>CCA388330808DIAPH3c.2347C>G (p.Pro783Ala)
c.2314C>G (p.Pro772Ala)
c.2137C>G (p.Pro713Ala)
c.2209C>G (p.Pro737Ala)
c.1558C>G (p.Pro520Ala)
n.2509C>G
n.2531C>G
13g.59911755G=CA2095278638DIAPH3c.2347C= (p.Pro783=)
c.2314C= (p.Pro772=)
c.2137C= (p.Pro713=)
c.2209C= (p.Pro737=)
c.1558C= (p.Pro520=)
n.2509C=
n.2531C=
13g.59911755G>TCA388330809DIAPH3c.2347C>A (p.Pro783Thr)
c.2314C>A (p.Pro772Thr)
c.2137C>A (p.Pro713Thr)
c.2209C>A (p.Pro737Thr)
c.1558C>A (p.Pro520Thr)
n.2509C>A
n.2531C>A
 gnomAD v4
13g.59911756T>ACA388330810DIAPH3c.2346A>T (p.Glu782Asp)
c.2313A>T (p.Glu771Asp)
c.2136A>T (p.Glu712Asp)
c.2208A>T (p.Glu736Asp)
c.1557A>T (p.Glu519Asp)
n.2508A>T
n.2530A>T
13g.59911756T>CCA250956565DIAPH3c.2346A>G (p.Glu782=)
c.2313A>G (p.Glu771=)
c.2136A>G (p.Glu712=)
c.2208A>G (p.Glu736=)
c.1557A>G (p.Glu519=)
n.2508A>G
n.2530A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.59911756T>GCA388330811DIAPH3c.2346A>C (p.Glu782Asp)
c.2313A>C (p.Glu771Asp)
c.2136A>C (p.Glu712Asp)
c.2208A>C (p.Glu736Asp)
c.1557A>C (p.Glu519Asp)
n.2508A>C
n.2530A>C
13g.59911756T=CA2095278640DIAPH3c.2346A= (p.Glu782=)
c.2313A= (p.Glu771=)
c.2136A= (p.Glu712=)
c.2208A= (p.Glu736=)
c.1557A= (p.Glu519=)
n.2508A=
n.2530A=
13g.59911757T>ACA388330812DIAPH3c.2345A>T (p.Glu782Val)
c.2312A>T (p.Glu771Val)
c.2135A>T (p.Glu712Val)
c.2207A>T (p.Glu736Val)
c.1556A>T (p.Glu519Val)
n.2507A>T
n.2529A>T
13g.59911757T>CCA388330813DIAPH3c.2345A>G (p.Glu782Gly)
c.2312A>G (p.Glu771Gly)
c.2135A>G (p.Glu712Gly)
c.2207A>G (p.Glu736Gly)
c.1556A>G (p.Glu519Gly)
n.2507A>G
n.2529A>G
13g.59911757T>GCA388330814DIAPH3c.2345A>C (p.Glu782Ala)
c.2312A>C (p.Glu771Ala)
c.2135A>C (p.Glu712Ala)
c.2207A>C (p.Glu736Ala)
c.1556A>C (p.Glu519Ala)
n.2507A>C
n.2529A>C
13g.59911758C>ACA388330815DIAPH3c.2344G>T (p.Glu782Ter)
c.2311G>T (p.Glu771Ter)
c.2134G>T (p.Glu712Ter)
c.2206G>T (p.Glu736Ter)
c.1555G>T (p.Glu519Ter)
n.2506G>T
n.2528G>T
13g.59911758C>GCA388330816DIAPH3c.2344G>C (p.Glu782Gln)
c.2311G>C (p.Glu771Gln)
c.2134G>C (p.Glu712Gln)
c.2206G>C (p.Glu736Gln)
c.1555G>C (p.Glu519Gln)
n.2506G>C
n.2528G>C
13g.59911758C>TCA388330817DIAPH3c.2344G>A (p.Glu782Lys)
c.2311G>A (p.Glu771Lys)
c.2134G>A (p.Glu712Lys)
c.2206G>A (p.Glu736Lys)
c.1555G>A (p.Glu519Lys)
n.2506G>A
n.2528G>A
13g.59911759A>CCA388330818DIAPH3c.2343T>G (p.Cys781Trp)
c.2310T>G (p.Cys770Trp)
c.2133T>G (p.Cys711Trp)
c.2205T>G (p.Cys735Trp)
c.1554T>G (p.Cys518Trp)
n.2505T>G
n.2527T>G
13g.59911759A>GCA484003297DIAPH3c.2343T>C (p.Cys781=)
c.2310T>C (p.Cys770=)
c.2133T>C (p.Cys711=)
c.2205T>C (p.Cys735=)
c.1554T>C (p.Cys518=)
n.2505T>C
n.2527T>C
13g.59911759A>TCA388330819DIAPH3c.2343T>A (p.Cys781Ter)
c.2310T>A (p.Cys770Ter)
c.2133T>A (p.Cys711Ter)
c.2205T>A (p.Cys735Ter)
c.1554T>A (p.Cys518Ter)
n.2505T>A
n.2527T>A
13g.59911760C>ACA388330820DIAPH3c.2342G>T (p.Cys781Phe)
c.2309G>T (p.Cys770Phe)
c.2132G>T (p.Cys711Phe)
c.2204G>T (p.Cys735Phe)
c.1553G>T (p.Cys518Phe)
n.2504G>T
n.2526G>T
13g.59911760C>GCA388330822DIAPH3c.2342G>C (p.Cys781Ser)
c.2309G>C (p.Cys770Ser)
c.2132G>C (p.Cys711Ser)
c.2204G>C (p.Cys735Ser)
c.1553G>C (p.Cys518Ser)
n.2504G>C
n.2526G>C
13g.59911760C>TCA388330821DIAPH3c.2342G>A (p.Cys781Tyr)
c.2309G>A (p.Cys770Tyr)
c.2132G>A (p.Cys711Tyr)
c.2204G>A (p.Cys735Tyr)
c.1553G>A (p.Cys518Tyr)
n.2504G>A
n.2526G>A
13g.59911761A=CA2095278647DIAPH3c.2341T= (p.Cys781=)
c.2308T= (p.Cys770=)
c.2131T= (p.Cys711=)
c.2203T= (p.Cys735=)
c.1552T= (p.Cys518=)
n.2503T=
n.2525T=
13g.59911761A>CCA388330823DIAPH3c.2341T>G (p.Cys781Gly)
c.2308T>G (p.Cys770Gly)
c.2131T>G (p.Cys711Gly)
c.2203T>G (p.Cys735Gly)
c.1552T>G (p.Cys518Gly)
n.2503T>G
n.2525T>G
 gnomAD v4
13g.59911761A>GCA250956566DIAPH3c.2341T>C (p.Cys781Arg)
c.2308T>C (p.Cys770Arg)
c.2131T>C (p.Cys711Arg)
c.2203T>C (p.Cys735Arg)
c.1552T>C (p.Cys518Arg)
n.2503T>C
n.2525T>C
 dbSNP gnomAD v3 gnomAD v4
13g.59911761A>TCA388330824DIAPH3c.2341T>A (p.Cys781Ser)
c.2308T>A (p.Cys770Ser)
c.2131T>A (p.Cys711Ser)
c.2203T>A (p.Cys735Ser)
c.1552T>A (p.Cys518Ser)
n.2503T>A
n.2525T>A
 dbSNP
13g.59911762_59911764delCA2623205677DIAPH3c.2339_2341del (p.Leu780del)
c.2306_2308del (p.Leu769del)
c.2129_2131del (p.Leu710del)
c.2201_2203del (p.Leu734del)
c.1550_1552del (p.Leu517del)
n.2501_2503del
n.2523_2525del
 gnomAD v4
13g.59911762T>ACA388330825DIAPH3c.2340A>T (p.Leu780Phe)
c.2307A>T (p.Leu769Phe)
c.2130A>T (p.Leu710Phe)
c.2202A>T (p.Leu734Phe)
c.1551A>T (p.Leu517Phe)
n.2502A>T
n.2524A>T
13g.59911762T>CCA6996410DIAPH3c.2340A>G (p.Leu780=)
c.2307A>G (p.Leu769=)
c.2130A>G (p.Leu710=)
c.2202A>G (p.Leu734=)
c.1551A>G (p.Leu517=)
n.2502A>G
n.2524A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911762T>GCA388330826DIAPH3c.2340A>C (p.Leu780Phe)
c.2307A>C (p.Leu769Phe)
c.2130A>C (p.Leu710Phe)
c.2202A>C (p.Leu734Phe)
c.1551A>C (p.Leu517Phe)
n.2502A>C
n.2524A>C
 dbSNP gnomAD v4
13g.59911762T=CA2095278650DIAPH3c.2340A= (p.Leu780=)
c.2307A= (p.Leu769=)
c.2130A= (p.Leu710=)
c.2202A= (p.Leu734=)
c.1551A= (p.Leu517=)
n.2502A=
n.2524A=
13g.59911763A>CCA388330827DIAPH3c.2339T>G (p.Leu780Ter)
c.2306T>G (p.Leu769Ter)
c.2129T>G (p.Leu710Ter)
c.2201T>G (p.Leu734Ter)
c.1550T>G (p.Leu517Ter)
n.2501T>G
n.2523T>G
13g.59911763A>GCA388330828DIAPH3c.2339T>C (p.Leu780Ser)
c.2306T>C (p.Leu769Ser)
c.2129T>C (p.Leu710Ser)
c.2201T>C (p.Leu734Ser)
c.1550T>C (p.Leu517Ser)
n.2501T>C
n.2523T>C
13g.59911763A>TCA388330829DIAPH3c.2339T>A (p.Leu780Ter)
c.2306T>A (p.Leu769Ter)
c.2129T>A (p.Leu710Ter)
c.2201T>A (p.Leu734Ter)
c.1550T>A (p.Leu517Ter)
n.2501T>A
n.2523T>A
13g.59911763_59911764delCA2623205678DIAPH3c.2338_2339del (p.Leu780MetfsTer2)
c.2305_2306del (p.Leu769MetfsTer2)
c.2128_2129del (p.Leu710MetfsTer2)
c.2200_2201del (p.Leu734MetfsTer2)
c.1549_1550del (p.Leu517MetfsTer2)
n.2500_2501del
n.2522_2523del
 gnomAD v4
13g.59911764dupCA2623205679DIAPH3c.2339dup (p.Leu780PhefsTer3)
c.2306dup (p.Leu769PhefsTer3)
c.2129dup (p.Leu710PhefsTer3)
c.2201dup (p.Leu734PhefsTer3)
c.1550dup (p.Leu517PhefsTer3)
n.2501dup
n.2523dup
 gnomAD v4
13g.59911764A>CCA388330830DIAPH3c.2338T>G (p.Leu780Val)
c.2305T>G (p.Leu769Val)
c.2128T>G (p.Leu710Val)
c.2200T>G (p.Leu734Val)
c.1549T>G (p.Leu517Val)
n.2500T>G
n.2522T>G
13g.59911764A>GCA484003298DIAPH3c.2338T>C (p.Leu780=)
c.2305T>C (p.Leu769=)
c.2128T>C (p.Leu710=)
c.2200T>C (p.Leu734=)
c.1549T>C (p.Leu517=)
n.2500T>C
n.2522T>C
13g.59911764A>TCA388330831DIAPH3c.2338T>A (p.Leu780Ile)
c.2305T>A (p.Leu769Ile)
c.2128T>A (p.Leu710Ile)
c.2200T>A (p.Leu734Ile)
c.1549T>A (p.Leu517Ile)
n.2500T>A
n.2522T>A
 gnomAD v4
13g.59911765G>ACA484003299DIAPH3c.2337C>T (p.Asn779=)
c.2304C>T (p.Asn768=)
c.2127C>T (p.Asn709=)
c.2199C>T (p.Asn733=)
c.1548C>T (p.Asn516=)
n.2499C>T
n.2521C>T
 dbSNP gnomAD v4
13g.59911765G>CCA6996411DIAPH3c.2337C>G (p.Asn779Lys)
c.2304C>G (p.Asn768Lys)
c.2127C>G (p.Asn709Lys)
c.2199C>G (p.Asn733Lys)
c.1548C>G (p.Asn516Lys)
n.2499C>G
n.2521C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911765G=CA2095278656DIAPH3c.2337C= (p.Asn779=)
c.2304C= (p.Asn768=)
c.2127C= (p.Asn709=)
c.2199C= (p.Asn733=)
c.1548C= (p.Asn516=)
n.2499C=
n.2521C=
13g.59911765G>TCA388330832DIAPH3c.2337C>A (p.Asn779Lys)
c.2304C>A (p.Asn768Lys)
c.2127C>A (p.Asn709Lys)
c.2199C>A (p.Asn733Lys)
c.1548C>A (p.Asn516Lys)
n.2499C>A
n.2521C>A
13g.59911766T>ACA388330833DIAPH3c.2336A>T (p.Asn779Ile)
c.2303A>T (p.Asn768Ile)
c.2126A>T (p.Asn709Ile)
c.2198A>T (p.Asn733Ile)
c.1547A>T (p.Asn516Ile)
n.2498A>T
n.2520A>T
13g.59911766T>CCA388330834DIAPH3c.2336A>G (p.Asn779Ser)
c.2303A>G (p.Asn768Ser)
c.2126A>G (p.Asn709Ser)
c.2198A>G (p.Asn733Ser)
c.1547A>G (p.Asn516Ser)
n.2498A>G
n.2520A>G
 dbSNP gnomAD v3 gnomAD v4
13g.59911766T>GCA388330835DIAPH3c.2336A>C (p.Asn779Thr)
c.2303A>C (p.Asn768Thr)
c.2126A>C (p.Asn709Thr)
c.2198A>C (p.Asn733Thr)
c.1547A>C (p.Asn516Thr)
n.2498A>C
n.2520A>C
13g.59911766T=CA2095278659DIAPH3c.2336A= (p.Asn779=)
c.2303A= (p.Asn768=)
c.2126A= (p.Asn709=)
c.2198A= (p.Asn733=)
c.1547A= (p.Asn516=)
n.2498A=
n.2520A=
13g.59911767T>ACA388330836DIAPH3c.2335A>T (p.Asn779Tyr)
c.2302A>T (p.Asn768Tyr)
c.2125A>T (p.Asn709Tyr)
c.2197A>T (p.Asn733Tyr)
c.1546A>T (p.Asn516Tyr)
n.2497A>T
n.2519A>T
 gnomAD v4
13g.59911767T>CCA388330837DIAPH3c.2335A>G (p.Asn779Asp)
c.2302A>G (p.Asn768Asp)
c.2125A>G (p.Asn709Asp)
c.2197A>G (p.Asn733Asp)
c.1546A>G (p.Asn516Asp)
n.2497A>G
n.2519A>G
13g.59911767T>GCA388330838DIAPH3c.2335A>C (p.Asn779His)
c.2302A>C (p.Asn768His)
c.2125A>C (p.Asn709His)
c.2197A>C (p.Asn733His)
c.1546A>C (p.Asn516His)
n.2497A>C
n.2519A>C
13g.59911770_59911771insGTGAACCACAACCACAAACTGCTCA2623205680DIAPH3c.2335_2336insGTTTGTGGTTGTGGTTCACAGCA (p.Asn779SerfsTer19)
c.2302_2303insGTTTGTGGTTGTGGTTCACAGCA (p.Asn768SerfsTer19)
c.2125_2126insGTTTGTGGTTGTGGTTCACAGCA (p.Asn709SerfsTer19)
c.2197_2198insGTTTGTGGTTGTGGTTCACAGCA (p.Asn733SerfsTer19)
c.1546_1547insGTTTGTGGTTGTGGTTCACAGCA (p.Asn516SerfsTer19)
n.2497_2498insGTTTGTGGTTGTGGTTCACAGCA
n.2519_2520insGTTTGTGGTTGTGGTTCACAGCA
 gnomAD v4
13g.59911768G>ACA484003300DIAPH3c.2334C>T (p.Ser778=)
c.2301C>T (p.Ser767=)
c.2124C>T (p.Ser708=)
c.2196C>T (p.Ser732=)
c.1545C>T (p.Ser515=)
n.2496C>T
n.2518C>T
13g.59911768G>CCA388330839DIAPH3c.2334C>G (p.Ser778Arg)
c.2301C>G (p.Ser767Arg)
c.2124C>G (p.Ser708Arg)
c.2196C>G (p.Ser732Arg)
c.1545C>G (p.Ser515Arg)
n.2496C>G
n.2518C>G
13g.59911768G>TCA388330840DIAPH3c.2334C>A (p.Ser778Arg)
c.2301C>A (p.Ser767Arg)
c.2124C>A (p.Ser708Arg)
c.2196C>A (p.Ser732Arg)
c.1545C>A (p.Ser515Arg)
n.2496C>A
n.2518C>A
13g.59911769C>ACA388330841DIAPH3c.2333G>T (p.Ser778Ile)
c.2300G>T (p.Ser767Ile)
c.2123G>T (p.Ser708Ile)
c.2195G>T (p.Ser732Ile)
c.1544G>T (p.Ser515Ile)
n.2495G>T
n.2517G>T
13g.59911769C>GCA388330842DIAPH3c.2333G>C (p.Ser778Thr)
c.2300G>C (p.Ser767Thr)
c.2123G>C (p.Ser708Thr)
c.2195G>C (p.Ser732Thr)
c.1544G>C (p.Ser515Thr)
n.2495G>C
n.2517G>C
13g.59911769C>TCA388330843DIAPH3c.2333G>A (p.Ser778Asn)
c.2300G>A (p.Ser767Asn)
c.2123G>A (p.Ser708Asn)
c.2195G>A (p.Ser732Asn)
c.1544G>A (p.Ser515Asn)
n.2495G>A
n.2517G>A
13g.59911770delCA645571891DIAPH3c.2332del (p.Ser778AlafsTer12)
c.2299del (p.Ser767AlafsTer12)
c.2122del (p.Ser708AlafsTer12)
c.2194del (p.Ser732AlafsTer12)
c.1543del (p.Ser515AlafsTer12)
n.2494del
n.2516del
 COSMIC
13g.59911770T>ACA388330844DIAPH3c.2332A>T (p.Ser778Cys)
c.2299A>T (p.Ser767Cys)
c.2122A>T (p.Ser708Cys)
c.2194A>T (p.Ser732Cys)
c.1543A>T (p.Ser515Cys)
n.2494A>T
n.2516A>T
13g.59911770T>CCA388330845DIAPH3c.2332A>G (p.Ser778Gly)
c.2299A>G (p.Ser767Gly)
c.2122A>G (p.Ser708Gly)
c.2194A>G (p.Ser732Gly)
c.1543A>G (p.Ser515Gly)
n.2494A>G
n.2516A>G
13g.59911770T>GCA388330846DIAPH3c.2332A>C (p.Ser778Arg)
c.2299A>C (p.Ser767Arg)
c.2122A>C (p.Ser708Arg)
c.2194A>C (p.Ser732Arg)
c.1543A>C (p.Ser515Arg)
n.2494A>C
n.2516A>C
13g.59911771A=CA2095278662DIAPH3c.2331T= (p.Tyr777=)
c.2298T= (p.Tyr766=)
c.2121T= (p.Tyr707=)
c.2193T= (p.Tyr731=)
c.1542T= (p.Tyr514=)
n.2493T=
n.2515T=
13g.59911771A>CCA388330847DIAPH3c.2331T>G (p.Tyr777Ter)
c.2298T>G (p.Tyr766Ter)
c.2121T>G (p.Tyr707Ter)
c.2193T>G (p.Tyr731Ter)
c.1542T>G (p.Tyr514Ter)
n.2493T>G
n.2515T>G
13g.59911771A>GCA484003301DIAPH3c.2331T>C (p.Tyr777=)
c.2298T>C (p.Tyr766=)
c.2121T>C (p.Tyr707=)
c.2193T>C (p.Tyr731=)
c.1542T>C (p.Tyr514=)
n.2493T>C
n.2515T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.59911771A>TCA388330848DIAPH3c.2331T>A (p.Tyr777Ter)
c.2298T>A (p.Tyr766Ter)
c.2121T>A (p.Tyr707Ter)
c.2193T>A (p.Tyr731Ter)
c.1542T>A (p.Tyr514Ter)
n.2493T>A
n.2515T>A
13g.59911772T>ACA388330849DIAPH3c.2330A>T (p.Tyr777Phe)
c.2297A>T (p.Tyr766Phe)
c.2120A>T (p.Tyr707Phe)
c.2192A>T (p.Tyr731Phe)
c.1541A>T (p.Tyr514Phe)
n.2492A>T
n.2514A>T
 dbSNP
13g.59911772T>CCA388330850DIAPH3c.2330A>G (p.Tyr777Cys)
c.2297A>G (p.Tyr766Cys)
c.2120A>G (p.Tyr707Cys)
c.2192A>G (p.Tyr731Cys)
c.1541A>G (p.Tyr514Cys)
n.2492A>G
n.2514A>G
13g.59911772T>GCA388330851DIAPH3c.2330A>C (p.Tyr777Ser)
c.2297A>C (p.Tyr766Ser)
c.2120A>C (p.Tyr707Ser)
c.2192A>C (p.Tyr731Ser)
c.1541A>C (p.Tyr514Ser)
n.2492A>C
n.2514A>C
13g.59911772T=CA2095278667DIAPH3c.2330A= (p.Tyr777=)
c.2297A= (p.Tyr766=)
c.2120A= (p.Tyr707=)
c.2192A= (p.Tyr731=)
c.1541A= (p.Tyr514=)
n.2492A=
n.2514A=
13g.59911773A>CCA388330852DIAPH3c.2329T>G (p.Tyr777Asp)
c.2296T>G (p.Tyr766Asp)
c.2119T>G (p.Tyr707Asp)
c.2191T>G (p.Tyr731Asp)
c.1540T>G (p.Tyr514Asp)
n.2491T>G
n.2513T>G
13g.59911773A>GCA388330853DIAPH3c.2329T>C (p.Tyr777His)
c.2296T>C (p.Tyr766His)
c.2119T>C (p.Tyr707His)
c.2191T>C (p.Tyr731His)
c.1540T>C (p.Tyr514His)
n.2491T>C
n.2513T>C
13g.59911773A>TCA388330854DIAPH3c.2329T>A (p.Tyr777Asn)
c.2296T>A (p.Tyr766Asn)
c.2119T>A (p.Tyr707Asn)
c.2191T>A (p.Tyr731Asn)
c.1540T>A (p.Tyr514Asn)
n.2491T>A
n.2513T>A
13g.59911774T>ACA388330855DIAPH3c.2328A>T (p.Glu776Asp)
c.2295A>T (p.Glu765Asp)
c.2118A>T (p.Glu706Asp)
c.2190A>T (p.Glu730Asp)
c.1539A>T (p.Glu513Asp)
n.2490A>T
n.2512A>T
13g.59911774T>CCA484003302DIAPH3c.2328A>G (p.Glu776=)
c.2295A>G (p.Glu765=)
c.2118A>G (p.Glu706=)
c.2190A>G (p.Glu730=)
c.1539A>G (p.Glu513=)
n.2490A>G
n.2512A>G
13g.59911774T>GCA388330856DIAPH3c.2328A>C (p.Glu776Asp)
c.2295A>C (p.Glu765Asp)
c.2118A>C (p.Glu706Asp)
c.2190A>C (p.Glu730Asp)
c.1539A>C (p.Glu513Asp)
n.2490A>C
n.2512A>C
 dbSNP
13g.59911774T=CA2095278669DIAPH3c.2328A= (p.Glu776=)
c.2295A= (p.Glu765=)
c.2118A= (p.Glu706=)
c.2190A= (p.Glu730=)
c.1539A= (p.Glu513=)
n.2490A=
n.2512A=
13g.59911775T>ACA388330857DIAPH3c.2327A>T (p.Glu776Val)
c.2294A>T (p.Glu765Val)
c.2117A>T (p.Glu706Val)
c.2189A>T (p.Glu730Val)
c.1538A>T (p.Glu513Val)
n.2489A>T
n.2511A>T
13g.59911775T>CCA388330858DIAPH3c.2327A>G (p.Glu776Gly)
c.2294A>G (p.Glu765Gly)
c.2117A>G (p.Glu706Gly)
c.2189A>G (p.Glu730Gly)
c.1538A>G (p.Glu513Gly)
n.2489A>G
n.2511A>G
13g.59911775T>GCA388330859DIAPH3c.2327A>C (p.Glu776Ala)
c.2294A>C (p.Glu765Ala)
c.2117A>C (p.Glu706Ala)
c.2189A>C (p.Glu730Ala)
c.1538A>C (p.Glu513Ala)
n.2489A>C
n.2511A>C
13g.59911776C>ACA388330862DIAPH3c.2326G>T (p.Glu776Ter)
c.2293G>T (p.Glu765Ter)
c.2116G>T (p.Glu706Ter)
c.2188G>T (p.Glu730Ter)
c.1537G>T (p.Glu513Ter)
n.2488G>T
n.2510G>T
13g.59911776C>GCA388330860DIAPH3c.2326G>C (p.Glu776Gln)
c.2293G>C (p.Glu765Gln)
c.2116G>C (p.Glu706Gln)
c.2188G>C (p.Glu730Gln)
c.1537G>C (p.Glu513Gln)
n.2488G>C
n.2510G>C
 COSMIC
13g.59911776C>TCA388330861DIAPH3c.2326G>A (p.Glu776Lys)
c.2293G>A (p.Glu765Lys)
c.2116G>A (p.Glu706Lys)
c.2188G>A (p.Glu730Lys)
c.1537G>A (p.Glu513Lys)
n.2488G>A
n.2510G>A
13g.59911777A>CCA388330863DIAPH3c.2325T>G (p.Ser775Arg)
c.2292T>G (p.Ser764Arg)
c.2115T>G (p.Ser705Arg)
c.2187T>G (p.Ser729Arg)
c.1536T>G (p.Ser512Arg)
n.2487T>G
n.2509T>G
13g.59911777A>GCA484003303DIAPH3c.2325T>C (p.Ser775=)
c.2292T>C (p.Ser764=)
c.2115T>C (p.Ser705=)
c.2187T>C (p.Ser729=)
c.1536T>C (p.Ser512=)
n.2487T>C
n.2509T>C
13g.59911777A>TCA388330864DIAPH3c.2325T>A (p.Ser775Arg)
c.2292T>A (p.Ser764Arg)
c.2115T>A (p.Ser705Arg)
c.2187T>A (p.Ser729Arg)
c.1536T>A (p.Ser512Arg)
n.2487T>A
n.2509T>A
13g.59911778C>ACA388330865DIAPH3c.2324G>T (p.Ser775Ile)
c.2291G>T (p.Ser764Ile)
c.2114G>T (p.Ser705Ile)
c.2186G>T (p.Ser729Ile)
c.1535G>T (p.Ser512Ile)
n.2486G>T
n.2508G>T
13g.59911778C=CA2095278671DIAPH3c.2324G= (p.Ser775=)
c.2291G= (p.Ser764=)
c.2114G= (p.Ser705=)
c.2186G= (p.Ser729=)
c.1535G= (p.Ser512=)
n.2486G=
n.2508G=
13g.59911778C>GCA388330867DIAPH3c.2324G>C (p.Ser775Thr)
c.2291G>C (p.Ser764Thr)
c.2114G>C (p.Ser705Thr)
c.2186G>C (p.Ser729Thr)
c.1535G>C (p.Ser512Thr)
n.2486G>C
n.2508G>C
 ClinVar dbSNP gnomAD v4
13g.59911778C>TCA388330866DIAPH3c.2324G>A (p.Ser775Asn)
c.2291G>A (p.Ser764Asn)
c.2114G>A (p.Ser705Asn)
c.2186G>A (p.Ser729Asn)
c.1535G>A (p.Ser512Asn)
n.2486G>A
n.2508G>A
 dbSNP gnomAD v3 gnomAD v4
13g.59911779T>ACA388330868DIAPH3c.2323A>T (p.Ser775Cys)
c.2290A>T (p.Ser764Cys)
c.2113A>T (p.Ser705Cys)
c.2185A>T (p.Ser729Cys)
c.1534A>T (p.Ser512Cys)
n.2485A>T
n.2507A>T
13g.59911779T>CCA388330870DIAPH3c.2323A>G (p.Ser775Gly)
c.2290A>G (p.Ser764Gly)
c.2113A>G (p.Ser705Gly)
c.2185A>G (p.Ser729Gly)
c.1534A>G (p.Ser512Gly)
n.2485A>G
n.2507A>G
13g.59911779T>GCA388330869DIAPH3c.2323A>C (p.Ser775Arg)
c.2290A>C (p.Ser764Arg)
c.2113A>C (p.Ser705Arg)
c.2185A>C (p.Ser729Arg)
c.1534A>C (p.Ser512Arg)
n.2485A>C
n.2507A>C
13g.59911780C>ACA388330871DIAPH3c.2322G>T (p.Lys774Asn)
c.2289G>T (p.Lys763Asn)
c.2112G>T (p.Lys704Asn)
c.2184G>T (p.Lys728Asn)
c.1533G>T (p.Lys511Asn)
n.2484G>T
n.2506G>T
13g.59911780C=CA2095278673DIAPH3c.2322G= (p.Lys774=)
c.2289G= (p.Lys763=)
c.2112G= (p.Lys704=)
c.2184G= (p.Lys728=)
c.1533G= (p.Lys511=)
n.2484G=
n.2506G=
13g.59911780C>GCA388330872DIAPH3c.2322G>C (p.Lys774Asn)
c.2289G>C (p.Lys763Asn)
c.2112G>C (p.Lys704Asn)
c.2184G>C (p.Lys728Asn)
c.1533G>C (p.Lys511Asn)
n.2484G>C
n.2506G>C
13g.59911780C>TCA484003304DIAPH3c.2322G>A (p.Lys774=)
c.2289G>A (p.Lys763=)
c.2112G>A (p.Lys704=)
c.2184G>A (p.Lys728=)
c.1533G>A (p.Lys511=)
n.2484G>A
n.2506G>A
 dbSNP gnomAD v2
13g.59911781T>ACA388330873DIAPH3c.2321A>T (p.Lys774Met)
c.2288A>T (p.Lys763Met)
c.2111A>T (p.Lys704Met)
c.2183A>T (p.Lys728Met)
c.1532A>T (p.Lys511Met)
n.2483A>T
n.2505A>T
13g.59911781T>CCA6996412DIAPH3c.2321A>G (p.Lys774Arg)
c.2288A>G (p.Lys763Arg)
c.2111A>G (p.Lys704Arg)
c.2183A>G (p.Lys728Arg)
c.1532A>G (p.Lys511Arg)
n.2483A>G
n.2505A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911781T>GCA388330874DIAPH3c.2321A>C (p.Lys774Thr)
c.2288A>C (p.Lys763Thr)
c.2111A>C (p.Lys704Thr)
c.2183A>C (p.Lys728Thr)
c.1532A>C (p.Lys511Thr)
n.2483A>C
n.2505A>C
13g.59911781T=CA2095278677DIAPH3c.2321A= (p.Lys774=)
c.2288A= (p.Lys763=)
c.2111A= (p.Lys704=)
c.2183A= (p.Lys728=)
c.1532A= (p.Lys511=)
n.2483A=
n.2505A=
13g.59911782_59911783insACTTTTTTTCA2503553037DIAPH3c.2321_2322insAAAAAGTAA (p.Lys774_Ser775insLysSerLys)
c.2288_2289insAAAAAGTAA (p.Lys763_Ser764insLysSerLys)
c.2111_2112insAAAAAGTAA (p.Lys704_Ser705insLysSerLys)
c.2183_2184insAAAAAGTAA (p.Lys728_Ser729insLysSerLys)
c.1532_1533insAAAAAGTAA (p.Lys511_Ser512insLysSerLys)
n.2483_2484insAAAAAGTAA
n.2505_2506insAAAAAGTAA
13g.59911782T>ACA388330875DIAPH3c.2320A>T (p.Lys774Ter)
c.2287A>T (p.Lys763Ter)
c.2110A>T (p.Lys704Ter)
c.2182A>T (p.Lys728Ter)
c.1531A>T (p.Lys511Ter)
n.2482A>T
n.2504A>T
13g.59911782T>CCA388330876DIAPH3c.2320A>G (p.Lys774Glu)
c.2287A>G (p.Lys763Glu)
c.2110A>G (p.Lys704Glu)
c.2182A>G (p.Lys728Glu)
c.1531A>G (p.Lys511Glu)
n.2482A>G
n.2504A>G
 gnomAD v4
13g.59911782T>GCA388330877DIAPH3c.2320A>C (p.Lys774Gln)
c.2287A>C (p.Lys763Gln)
c.2110A>C (p.Lys704Gln)
c.2182A>C (p.Lys728Gln)
c.1531A>C (p.Lys511Gln)
n.2482A>C
n.2504A>C
 gnomAD v4
13g.59911783G>ACA484003305DIAPH3c.2319C>T (p.Phe773=)
c.2286C>T (p.Phe762=)
c.2109C>T (p.Phe703=)
c.2181C>T (p.Phe727=)
c.1530C>T (p.Phe510=)
n.2481C>T
n.2503C>T
13g.59911783G>CCA388330878DIAPH3c.2319C>G (p.Phe773Leu)
c.2286C>G (p.Phe762Leu)
c.2109C>G (p.Phe703Leu)
c.2181C>G (p.Phe727Leu)
c.1530C>G (p.Phe510Leu)
n.2481C>G
n.2503C>G
 dbSNP gnomAD v4
13g.59911783G=CA2095278679DIAPH3c.2319C= (p.Phe773=)
c.2286C= (p.Phe762=)
c.2109C= (p.Phe703=)
c.2181C= (p.Phe727=)
c.1530C= (p.Phe510=)
n.2481C=
n.2503C=
13g.59911783G>TCA388330879DIAPH3c.2319C>A (p.Phe773Leu)
c.2286C>A (p.Phe762Leu)
c.2109C>A (p.Phe703Leu)
c.2181C>A (p.Phe727Leu)
c.1530C>A (p.Phe510Leu)
n.2481C>A
n.2503C>A
13g.59911784A>CCA388330880DIAPH3c.2318T>G (p.Phe773Cys)
c.2285T>G (p.Phe762Cys)
c.2108T>G (p.Phe703Cys)
c.2180T>G (p.Phe727Cys)
c.1529T>G (p.Phe510Cys)
n.2480T>G
n.2502T>G
13g.59911784A>GCA388330881DIAPH3c.2318T>C (p.Phe773Ser)
c.2285T>C (p.Phe762Ser)
c.2108T>C (p.Phe703Ser)
c.2180T>C (p.Phe727Ser)
c.1529T>C (p.Phe510Ser)
n.2480T>C
n.2502T>C
13g.59911784A>TCA388330882DIAPH3c.2318T>A (p.Phe773Tyr)
c.2285T>A (p.Phe762Tyr)
c.2108T>A (p.Phe703Tyr)
c.2180T>A (p.Phe727Tyr)
c.1529T>A (p.Phe510Tyr)
n.2480T>A
n.2502T>A
13g.59911785A=CA2095278690DIAPH3c.2317T= (p.Phe773=)
c.2284T= (p.Phe762=)
c.2107T= (p.Phe703=)
c.2179T= (p.Phe727=)
c.1528T= (p.Phe510=)
n.2479T=
n.2501T=
13g.59911785A>CCA388330884DIAPH3c.2317T>G (p.Phe773Val)
c.2284T>G (p.Phe762Val)
c.2107T>G (p.Phe703Val)
c.2179T>G (p.Phe727Val)
c.1528T>G (p.Phe510Val)
n.2479T>G
n.2501T>G
13g.59911785A>GCA6996413DIAPH3c.2317T>C (p.Phe773Leu)
c.2284T>C (p.Phe762Leu)
c.2107T>C (p.Phe703Leu)
c.2179T>C (p.Phe727Leu)
c.1528T>C (p.Phe510Leu)
n.2479T>C
n.2501T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911785A>TCA388330883DIAPH3c.2317T>A (p.Phe773Ile)
c.2284T>A (p.Phe762Ile)
c.2107T>A (p.Phe703Ile)
c.2179T>A (p.Phe727Ile)
c.1528T>A (p.Phe510Ile)
n.2479T>A
n.2501T>A

Number of alleles fetched