Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47441743C>ACA2530752540RAPSNc.790-10G>T (n.790-10G>T)
c.789+80G>T (n.789+80G>T)
c.631-10G>T (n.631-10G>T)
11g.47441744A>GCA2557922638RAPSNc.790-11T>C (n.790-11T>C)
c.789+79T>C (n.789+79T>C)
c.631-11T>C (n.631-11T>C)
 gnomAD v4
11g.47441745G>CCA2740093736RAPSNc.790-12C>G (n.790-12C>G)
c.789+78C>G (n.789+78C>G)
c.631-12C>G (n.631-12C>G)
 ClinVar
11g.47441745G>TCA2613411992RAPSNc.790-12C>A (n.790-12C>A)
c.789+78C>A (n.789+78C>A)
c.631-12C>A (n.631-12C>A)
 gnomAD v4
11g.47441746G>ACA5976623RAPSNc.790-13C>T (n.790-13C>T)
c.789+77C>T (n.789+77C>T)
c.631-13C>T (n.631-13C>T)
 ClinVar dbSNP ExAC gnomAD v4
11g.47441746G=CA1969387621RAPSNc.790-13C= (n.790-13C=)
c.789+77C= (n.789+77C=)
c.631-13C= (n.631-13C=)
11g.47441746G>TCA221716428RAPSNc.790-13C>A (n.790-13C>A)
c.789+77C>A (n.789+77C>A)
c.631-13C>A (n.631-13C>A)
 dbSNP gnomAD v4
11g.47441747dupCA2563254536RAPSNc.790-14dup (n.790-14dup)
c.789+76dup (n.789+76dup)
c.631-14dup (n.631-14dup)
11g.47441748G>ACA1969387622RAPSNc.790-15C>T (n.790-15C>T)
c.789+75C>T (n.789+75C>T)
c.631-15C>T (n.631-15C>T)
 ClinVar dbSNP gnomAD v4
11g.47441748G>CCA5976624RAPSNc.790-15C>G (n.790-15C>G)
c.789+75C>G (n.789+75C>G)
c.631-15C>G (n.631-15C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441748G=CA1969387623RAPSNc.790-15C= (n.790-15C=)
c.789+75C= (n.789+75C=)
c.631-15C= (n.631-15C=)
11g.47441748G>TCA599374777RAPSNc.790-15C>A (n.790-15C>A)
c.789+75C>A (n.789+75C>A)
c.631-15C>A (n.631-15C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441752delCA2613412012RAPSNc.790-15del (n.790-15del)
c.789+75del (n.789+75del)
c.631-15del (n.631-15del)
 gnomAD v4
11g.47441749G>TCA2613412043RAPSNc.790-16C>A (n.790-16C>A)
c.789+74C>A (n.789+74C>A)
c.631-16C>A (n.631-16C>A)
 gnomAD v4
11g.47441750G>ACA2740093737RAPSNc.790-17C>T (n.790-17C>T)
c.789+73C>T (n.789+73C>T)
c.631-17C>T (n.631-17C>T)
 ClinVar
11g.47441750G>CCA599374778RAPSNc.790-17C>G (n.790-17C>G)
c.789+73C>G (n.789+73C>G)
c.631-17C>G (n.631-17C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441750G=CA1969387624RAPSNc.790-17C= (n.790-17C=)
c.789+73C= (n.789+73C=)
c.631-17C= (n.631-17C=)
11g.47441750G>TCA2613412049RAPSNc.790-17C>A (n.790-17C>A)
c.789+73C>A (n.789+73C>A)
c.631-17C>A (n.631-17C>A)
 gnomAD v4
11g.47441751G>TCA2613412054RAPSNc.790-18C>A (n.790-18C>A)
c.789+72C>A (n.789+72C>A)
c.631-18C>A (n.631-18C>A)
 gnomAD v4
11g.47441752G>ACA2613412060RAPSNc.790-19C>T (n.790-19C>T)
c.789+71C>T (n.789+71C>T)
c.631-19C>T (n.631-19C>T)
 gnomAD v4
11g.47441752G=CA1969387625RAPSNc.790-19C= (n.790-19C=)
c.789+71C= (n.789+71C=)
c.631-19C= (n.631-19C=)
11g.47441752G>TCA5976625RAPSNc.790-19C>A (n.790-19C>A)
c.789+71C>A (n.789+71C>A)
c.631-19C>A (n.631-19C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441753A>GCA2613412067RAPSNc.790-20T>C (n.790-20T>C)
c.789+70T>C (n.789+70T>C)
c.631-20T>C (n.631-20T>C)
 gnomAD v4
11g.47441753A>TCA2517028081RAPSNc.790-20T>A (n.790-20T>A)
c.789+70T>A (n.789+70T>A)
c.631-20T>A (n.631-20T>A)
11g.47441754T>CCA937663682RAPSNc.790-21A>G (n.790-21A>G)
c.789+69A>G (n.789+69A>G)
c.631-21A>G (n.631-21A>G)
 dbSNP gnomAD v3 gnomAD v4
11g.47441754T=CA1969387626RAPSNc.790-21A= (n.790-21A=)
c.789+69A= (n.789+69A=)
c.631-21A= (n.631-21A=)
11g.47441755G>TCA2613412072RAPSNc.790-22C>A (n.790-22C>A)
c.789+68C>A (n.789+68C>A)
c.631-22C>A (n.631-22C>A)
 gnomAD v4
11g.47441756G>ACA2574817143RAPSNc.790-23C>T (n.790-23C>T)
c.789+67C>T (n.789+67C>T)
c.631-23C>T (n.631-23C>T)
 gnomAD v4
11g.47441756G>CCA599374779RAPSNc.790-23C>G (n.790-23C>G)
c.789+67C>G (n.789+67C>G)
c.631-23C>G (n.631-23C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.47441756G=CA1969387627RAPSNc.790-23C= (n.790-23C=)
c.789+67C= (n.789+67C=)
c.631-23C= (n.631-23C=)
11g.47441756G>TCA2613412074RAPSNc.790-23C>A (n.790-23C>A)
c.789+67C>A (n.789+67C>A)
c.631-23C>A (n.631-23C>A)
 gnomAD v4
11g.47441757A>CCA2791336097RAPSNc.790-24T>G (n.790-24T>G)
c.789+66T>G (n.789+66T>G)
c.631-24T>G (n.631-24T>G)
11g.47441757A>GCA2538212489RAPSNc.790-24T>C (n.790-24T>C)
c.789+66T>C (n.789+66T>C)
c.631-24T>C (n.631-24T>C)
11g.47441758A>CCA2613412076RAPSNc.790-25T>G (n.790-25T>G)
c.789+65T>G (n.789+65T>G)
c.631-25T>G (n.631-25T>G)
 gnomAD v4
11g.47441760C>ACA2613412077RAPSNc.790-27G>T (n.790-27G>T)
c.789+63G>T (n.789+63G>T)
c.631-27G>T (n.631-27G>T)
 gnomAD v4
11g.47441760C=CA1969387628RAPSNc.790-27G= (n.790-27G=)
c.789+63G= (n.789+63G=)
c.631-27G= (n.631-27G=)
11g.47441760C>TCA599374780RAPSNc.790-27G>A (n.790-27G>A)
c.789+63G>A (n.789+63G>A)
c.631-27G>A (n.631-27G>A)
 dbSNP gnomAD v2
11g.47441761A=CA1969387629RAPSNc.790-28T= (n.790-28T=)
c.789+62T= (n.789+62T=)
c.631-28T= (n.631-28T=)
11g.47441761A>CCA937663686RAPSNc.790-28T>G (n.790-28T>G)
c.789+62T>G (n.789+62T>G)
c.631-28T>G (n.631-28T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.47441761A>GCA2613412079RAPSNc.790-28T>C (n.790-28T>C)
c.789+62T>C (n.789+62T>C)
c.631-28T>C (n.631-28T>C)
 gnomAD v4
11g.47441762G=CA1969387630RAPSNc.790-29C= (n.790-29C=)
c.789+61C= (n.789+61C=)
c.631-29C= (n.631-29C=)
11g.47441762G>TCA599374781RAPSNc.790-29C>A (n.790-29C>A)
c.789+61C>A (n.789+61C>A)
c.631-29C>A (n.631-29C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.47441763G>ACA599374782RAPSNc.790-30C>T (n.790-30C>T)
c.789+60C>T (n.789+60C>T)
c.631-30C>T (n.631-30C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47441763G=CA1969387631RAPSNc.790-30C= (n.790-30C=)
c.789+60C= (n.789+60C=)
c.631-30C= (n.631-30C=)
11g.47441763G>TCA937663692RAPSNc.790-30C>A (n.790-30C>A)
c.789+60C>A (n.789+60C>A)
c.631-30C>A (n.631-30C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.47441764C>ACA2613412084RAPSNc.790-31G>T (n.790-31G>T)
c.789+59G>T (n.789+59G>T)
c.631-31G>T (n.631-31G>T)
 gnomAD v4
11g.47441764C=CA1969387632RAPSNc.790-31G= (n.790-31G=)
c.789+59G= (n.789+59G=)
c.631-31G= (n.631-31G=)
11g.47441764C>GCA1969387633RAPSNc.790-31G>C (n.790-31G>C)
c.789+59G>C (n.789+59G>C)
c.631-31G>C (n.631-31G>C)
 dbSNP
11g.47441765T>CCA5976626RAPSNc.790-32A>G (n.790-32A>G)
c.789+58A>G (n.789+58A>G)
c.631-32A>G (n.631-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441765T=CA1969387634RAPSNc.790-32A= (n.790-32A=)
c.789+58A= (n.789+58A=)
c.631-32A= (n.631-32A=)
11g.47441765_47441769delCA2559923772RAPSNc.790-36_790-32del (n.790-36_790-32del)
c.789+54_789+58del (n.789+54_789+58del)
c.631-36_631-32del (n.631-36_631-32del)
11g.47441766G>ACA677010275RAPSNc.790-33C>T (n.790-33C>T)
c.789+57C>T (n.789+57C>T)
c.631-33C>T (n.631-33C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.47441766G>CCA2613412092RAPSNc.790-33C>G (n.790-33C>G)
c.789+57C>G (n.789+57C>G)
c.631-33C>G (n.631-33C>G)
 gnomAD v4
11g.47441766G=CA1969387635RAPSNc.790-33C= (n.790-33C=)
c.789+57C= (n.789+57C=)
c.631-33C= (n.631-33C=)
11g.47441766G>TCA2613412095RAPSNc.790-33C>A (n.790-33C>A)
c.789+57C>A (n.789+57C>A)
c.631-33C>A (n.631-33C>A)
 gnomAD v4
11g.47441767T>CCA2791336098RAPSNc.790-34A>G (n.790-34A>G)
c.789+56A>G (n.789+56A>G)
c.631-34A>G (n.631-34A>G)
11g.47441767T>GCA2791336099RAPSNc.790-34A>C (n.790-34A>C)
c.789+56A>C (n.789+56A>C)
c.631-34A>C (n.631-34A>C)
11g.47441767_47441768insCAGGCTTTCA599374783RAPSNc.790-34_790-33insAAGCCTGA (n.790-34_790-33insAAGCCTGA)
c.789+56_789+57insAAGCCTGA (n.789+56_789+57insAAGCCTGA)
c.631-34_631-33insAAGCCTGA (n.631-34_631-33insAAGCCTGA)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441767dupCA5976627RAPSNc.790-34dup (n.790-34dup)
c.789+56dup (n.789+56dup)
c.631-34dup (n.631-34dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441768A=CA1969387636RAPSNc.790-35T= (n.790-35T=)
c.789+55T= (n.789+55T=)
c.631-35T= (n.631-35T=)
11g.47441768A>GCA1969387637RAPSNc.790-35T>C (n.790-35T>C)
c.789+55T>C (n.789+55T>C)
c.631-35T>C (n.631-35T>C)
 dbSNP
11g.47441769T>CCA599374784RAPSNc.790-36A>G (n.790-36A>G)
c.789+54A>G (n.789+54A>G)
c.631-36A>G (n.631-36A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.47441769T=CA1969387638RAPSNc.790-36A= (n.790-36A=)
c.789+54A= (n.789+54A=)
c.631-36A= (n.631-36A=)
11g.47441770C>ACA2613412136RAPSNc.790-37G>T (n.790-37G>T)
c.789+53G>T (n.789+53G>T)
c.631-37G>T (n.631-37G>T)
 gnomAD v4
11g.47441770C=CA1969387639RAPSNc.790-37G= (n.790-37G=)
c.789+53G= (n.789+53G=)
c.631-37G= (n.631-37G=)
11g.47441770C>TCA221716455RAPSNc.790-37G>A (n.790-37G>A)
c.789+53G>A (n.789+53G>A)
c.631-37G>A (n.631-37G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.47441771A>CCA2540884726RAPSNc.790-38T>G (n.790-38T>G)
c.789+52T>G (n.789+52T>G)
c.631-38T>G (n.631-38T>G)
11g.47441771A>GCA2613412140RAPSNc.790-38T>C (n.790-38T>C)
c.789+52T>C (n.789+52T>C)
c.631-38T>C (n.631-38T>C)
 gnomAD v4
11g.47441771A>TCA2613412141RAPSNc.790-38T>A (n.790-38T>A)
c.789+52T>A (n.789+52T>A)
c.631-38T>A (n.631-38T>A)
 gnomAD v4
11g.47441772G>CCA1969387641RAPSNc.790-39C>G (n.790-39C>G)
c.789+51C>G (n.789+51C>G)
c.631-39C>G (n.631-39C>G)
 dbSNP
11g.47441772G=CA1969387640RAPSNc.790-39C= (n.790-39C=)
c.789+51C= (n.789+51C=)
c.631-39C= (n.631-39C=)
11g.47441772G>TCA2613412142RAPSNc.790-39C>A (n.790-39C>A)
c.789+51C>A (n.789+51C>A)
c.631-39C>A (n.631-39C>A)
 gnomAD v4
11g.47441773G>ACA221716488RAPSNc.790-40C>T (n.790-40C>T)
c.789+50C>T (n.789+50C>T)
c.631-40C>T (n.631-40C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441773G>CCA2613412148RAPSNc.790-40C>G (n.790-40C>G)
c.789+50C>G (n.789+50C>G)
c.631-40C>G (n.631-40C>G)
 gnomAD v4
11g.47441773G=CA1969387642RAPSNc.790-40C= (n.790-40C=)
c.789+50C= (n.789+50C=)
c.631-40C= (n.631-40C=)
11g.47441773G>TCA5976628RAPSNc.790-40C>A (n.790-40C>A)
c.789+50C>A (n.789+50C>A)
c.631-40C>A (n.631-40C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441774C>ACA5976629RAPSNc.790-41G>T (n.790-41G>T)
c.789+49G>T (n.789+49G>T)
c.631-41G>T (n.631-41G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441774C=CA1969387643RAPSNc.790-41G= (n.790-41G=)
c.789+49G= (n.789+49G=)
c.631-41G= (n.631-41G=)
11g.47441774C>TCA2613412176RAPSNc.790-41G>A (n.790-41G>A)
c.789+49G>A (n.789+49G>A)
c.631-41G>A (n.631-41G>A)
 gnomAD v4
11g.47441775C=CA1969387644RAPSNc.790-42G= (n.790-42G=)
c.789+48G= (n.789+48G=)
c.631-42G= (n.631-42G=)
11g.47441775C>TCA599374786RAPSNc.790-42G>A (n.790-42G>A)
c.789+48G>A (n.789+48G>A)
c.631-42G>A (n.631-42G>A)
 dbSNP gnomAD v2
11g.47441777G>ACA2613412186RAPSNc.790-44C>T (n.790-44C>T)
c.789+46C>T (n.789+46C>T)
c.631-44C>T (n.631-44C>T)
 gnomAD v4
11g.47441777G>TCA2613412184RAPSNc.790-44C>A (n.790-44C>A)
c.789+46C>A (n.789+46C>A)
c.631-44C>A (n.631-44C>A)
 gnomAD v4
11g.47441777_47441778insGGCA2613412197RAPSNc.790-44_790-43insCC (n.790-44_790-43insCC)
c.789+46_789+47insCC (n.789+46_789+47insCC)
c.631-44_631-43insCC (n.631-44_631-43insCC)
 gnomAD v4
11g.47441777_47441778insGGGCA2613412196RAPSNc.790-44_790-43insCCC (n.790-44_790-43insCCC)
c.789+46_789+47insCCC (n.789+46_789+47insCCC)
c.631-44_631-43insCCC (n.631-44_631-43insCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGGCA2613412194RAPSNc.790-44_790-43insCCCCCC (n.790-44_790-43insCCCCCC)
c.789+46_789+47insCCCCCC (n.789+46_789+47insCCCCCC)
c.631-44_631-43insCCCCCC (n.631-44_631-43insCCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCGCA2613412195RAPSNc.790-44_790-43insGCCCCCC (n.790-44_790-43insGCCCCCC)
c.789+46_789+47insGCCCCCC (n.789+46_789+47insGCCCCCC)
c.631-44_631-43insGCCCCCC (n.631-44_631-43insGCCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGGGCA2613412182RAPSNc.790-44_790-43insCCCCCCC (n.790-44_790-43insCCCCCCC)
c.789+46_789+47insCCCCCCC (n.789+46_789+47insCCCCCCC)
c.631-44_631-43insCCCCCCC (n.631-44_631-43insCCCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCGGCA2613412188RAPSNc.790-44_790-43insCGCCCCCC (n.790-44_790-43insCGCCCCCC)
c.789+46_789+47insCGCCCCCC (n.789+46_789+47insCGCCCCCC)
c.631-44_631-43insCGCCCCCC (n.631-44_631-43insCGCCCCCC)
 gnomAD v4
11g.47441777dupCA2613412198RAPSNc.790-44dup (n.790-44dup)
c.789+46dup (n.789+46dup)
c.631-44dup (n.631-44dup)
 gnomAD v4
11g.47441777_47441778insGGGGCCCA2613412208RAPSNc.790-45_790-44insGGCCCC (n.790-45_790-44insGGCCCC)
c.789+45_789+46insGGCCCC (n.789+45_789+46insGGCCCC)
c.631-45_631-44insGGCCCC (n.631-45_631-44insGGCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCCA2613412211RAPSNc.790-45_790-44insGCCCCC (n.790-45_790-44insGCCCCC)
c.789+45_789+46insGCCCCC (n.789+45_789+46insGCCCCC)
c.631-45_631-44insGCCCCC (n.631-45_631-44insGCCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGCCCCA2613412210RAPSNc.790-45_790-44insGGGCCCC (n.790-45_790-44insGGGCCCC)
c.789+45_789+46insGGGCCCC (n.789+45_789+46insGGGCCCC)
c.631-45_631-44insGGGCCCC (n.631-45_631-44insGGGCCCC)
 gnomAD v4
11g.47441777_47441778insGGGGGCCCA2613412214RAPSNc.790-45_790-44insGGCCCCC (n.790-45_790-44insGGCCCCC)
c.789+45_789+46insGGCCCCC (n.789+45_789+46insGGCCCCC)
c.631-45_631-44insGGCCCCC (n.631-45_631-44insGGCCCCC)
 gnomAD v4
11g.47441778delCA2549792497RAPSNc.790-45del (n.790-45del)
c.789+45del (n.789+45del)
c.631-45del (n.631-45del)
11g.47441778T>ACA2574817144RAPSNc.790-45A>T (n.790-45A>T)
c.789+45A>T (n.789+45A>T)
c.631-45A>T (n.631-45A>T)
11g.47441778T>CCA2574817145RAPSNc.790-45A>G (n.790-45A>G)
c.789+45A>G (n.789+45A>G)
c.631-45A>G (n.631-45A>G)
 gnomAD v4
11g.47441778T>GCA2613412226RAPSNc.790-45A>C (n.790-45A>C)
c.789+45A>C (n.789+45A>C)
c.631-45A>C (n.631-45A>C)
 gnomAD v4
11g.47441778T=CA1969387645RAPSNc.790-45A= (n.790-45A=)
c.789+45A= (n.789+45A=)
c.631-45A= (n.631-45A=)
11g.47441779G>ACA5976630RAPSNc.789+44C>T (n.789+44C>T)
c.630+44C>T (n.630+44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779G=CA1969387646RAPSNc.789+44C= (n.789+44C=)
c.630+44C= (n.630+44C=)
11g.47441779G>TCA2525443992RAPSNc.789+44C>A (n.789+44C>A)
c.630+44C>A (n.630+44C>A)
 gnomAD v4
11g.47441779_47441780insGGCA2613412242RAPSNc.789+44_790-45insCC (n.789+44_790-45insCC)
c.789+44_789+45insCC (n.789+44_789+45insCC)
c.630+44_631-45insCC (n.630+44_631-45insCC)
 gnomAD v4
11g.47441779_47441780insGGGCA2613412232RAPSNc.789+44_790-45insCCC (n.789+44_790-45insCCC)
c.789+44_789+45insCCC (n.789+44_789+45insCCC)
c.630+44_631-45insCCC (n.630+44_631-45insCCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCA2613412240RAPSNc.789+44_790-45insGGGCCC (n.789+44_790-45insGGGCCC)
c.789+44_789+45insGGGCCC (n.789+44_789+45insGGGCCC)
c.630+44_631-45insGGGCCC (n.630+44_631-45insGGGCCC)
 gnomAD v4
11g.47441779dupCA599374787RAPSNc.789+44dup (n.789+44dup)
c.630+44dup (n.630+44dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441783delCA2574817146RAPSNc.789+40_789+44del (n.789+40_789+44del)
c.630+40_630+44del (n.630+40_630+44del)
11g.47441779_47441780insGCCA937663725RAPSNc.789+43_789+44insGC (n.789+43_789+44insGC)
c.630+43_630+44insGC (n.630+43_630+44insGC)
 gnomAD v3 gnomAD v4
11g.47441779_47441780insACCCCA2613412976RAPSNc.789+43_789+44insGGGT (n.789+43_789+44insGGGT)
c.630+43_630+44insGGGT (n.630+43_630+44insGGGT)
 gnomAD v4
11g.47441779_47441780insGCCCCA599374796RAPSNc.789+43_789+44insGGGC (n.789+43_789+44insGGGC)
c.630+43_630+44insGGGC (n.630+43_630+44insGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCA2613413101RAPSNc.789+43_789+44insGGCC (n.789+43_789+44insGGCC)
c.630+43_630+44insGGCC (n.630+43_630+44insGGCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCA2613412969RAPSNc.789+43_789+44insGGGGC (n.789+43_789+44insGGGGC)
c.630+43_630+44insGGGGC (n.630+43_630+44insGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCA2613413097RAPSNc.789+43_789+44insGGGCC (n.789+43_789+44insGGGCC)
c.630+43_630+44insGGGCC (n.630+43_630+44insGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCA2613412482RAPSNc.789+43_789+44insGGCCC (n.789+43_789+44insGGCCC)
c.630+43_630+44insGGCCC (n.630+43_630+44insGGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCA2613412635RAPSNc.789+43_789+44insGGGGA (n.789+43_789+44insGGGGA)
c.630+43_630+44insGGGGA (n.630+43_630+44insGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCA599374795RAPSNc.789+43_789+44insGGGGGC (n.789+43_789+44insGGGGGC)
c.630+43_630+44insGGGGGC (n.630+43_630+44insGGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCCCA2613413089RAPSNc.789+43_789+44insGGGGCC (n.789+43_789+44insGGGGCC)
c.630+43_630+44insGGGGCC (n.630+43_630+44insGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCA2613412611RAPSNc.789+43_789+44insGGGCCC (n.789+43_789+44insGGGCCC)
c.630+43_630+44insGGGCCC (n.630+43_630+44insGGGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCCA2613412680RAPSNc.789+43_789+44insGGGGGA (n.789+43_789+44insGGGGGA)
c.630+43_630+44insGGGGGA (n.630+43_630+44insGGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCA599374794RAPSNc.789+43_789+44insGGGGGGC (n.789+43_789+44insGGGGGGC)
c.630+43_630+44insGGGGGGC (n.630+43_630+44insGGGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCCCCA2613413085RAPSNc.789+43_789+44insGGGGGCC (n.789+43_789+44insGGGGGCC)
c.630+43_630+44insGGGGGCC (n.630+43_630+44insGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCA2613412608RAPSNc.789+43_789+44insGGGGCCC (n.789+43_789+44insGGGGCCC)
c.630+43_630+44insGGGGCCC (n.630+43_630+44insGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCA2613412822RAPSNc.789+43_789+44insGCCCCCC (n.789+43_789+44insGCCCCCC)
c.630+43_630+44insGCCCCCC (n.630+43_630+44insGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCA2613412838RAPSNc.789+43_789+44insGGGGGGGC (n.789+43_789+44insGGGGGGGC)
c.630+43_630+44insGGGGGGGC (n.630+43_630+44insGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCA2613413082RAPSNc.789+43_789+44insGGGGGGCC (n.789+43_789+44insGGGGGGCC)
c.630+43_630+44insGGGGGGCC (n.630+43_630+44insGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCCGCCA2613413012RAPSNc.789+43_789+44insGCGGGGCC (n.789+43_789+44insGCGGGGCC)
c.630+43_630+44insGCGGGGCC (n.630+43_630+44insGCGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCA2613413008RAPSNc.789+43_789+44insGGCGGGCC (n.789+43_789+44insGGCGGGCC)
c.630+43_630+44insGGCGGGCC (n.630+43_630+44insGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCA2613412607RAPSNc.789+43_789+44insGGGGGCCC (n.789+43_789+44insGGGGGCCC)
c.630+43_630+44insGGGGGCCC (n.630+43_630+44insGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCA2613412578RAPSNc.789+43_789+44insGGCGGCCC (n.789+43_789+44insGGCGGCCC)
c.630+43_630+44insGGCGGCCC (n.630+43_630+44insGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGGCCA2613412544RAPSNc.789+43_789+44insGCCGGCCC (n.789+43_789+44insGCCGGCCC)
c.630+43_630+44insGCCGGCCC (n.630+43_630+44insGCCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCA2613412638RAPSNc.789+43_789+44insGGCCGCCC (n.789+43_789+44insGGCCGCCC)
c.630+43_630+44insGGCCGCCC (n.630+43_630+44insGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCCA2613412818RAPSNc.789+43_789+44insGGCCCCCC (n.789+43_789+44insGGCCCCCC)
c.630+43_630+44insGGCCCCCC (n.630+43_630+44insGGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGGCCA2613412739RAPSNc.789+43_789+44insGCCCCCCC (n.789+43_789+44insGCCCCCCC)
c.630+43_630+44insGCCCCCCC (n.630+43_630+44insGCCCCCCC)
 gnomAD v4
11g.47441779_47441780insACCCCCCCCCA2613412973RAPSNc.789+43_789+44insGGGGGGGGT (n.789+43_789+44insGGGGGGGGT)
c.630+43_630+44insGGGGGGGGT (n.630+43_630+44insGGGGGGGGT)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCA599374793RAPSNc.789+43_789+44insGGGGGGGGC (n.789+43_789+44insGGGGGGGGC)
c.630+43_630+44insGGGGGGGGC (n.630+43_630+44insGGGGGGGGC)
 dbSNP gnomAD v2 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCA2613413076RAPSNc.789+43_789+44insGGGGGGGCC (n.789+43_789+44insGGGGGGGCC)
c.630+43_630+44insGGGGGGGCC (n.630+43_630+44insGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCA2613412603RAPSNc.789+43_789+44insGGGGGGCCC (n.789+43_789+44insGGGGGGCCC)
c.630+43_630+44insGGGGGGCCC (n.630+43_630+44insGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCA2613412572RAPSNc.789+43_789+44insGGGCGGCCC (n.789+43_789+44insGGGCGGCCC)
c.630+43_630+44insGGGCGGCCC (n.630+43_630+44insGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCA2613412536RAPSNc.789+43_789+44insGGGCCGCCC (n.789+43_789+44insGGGCCGCCC)
c.630+43_630+44insGGGCCGCCC (n.630+43_630+44insGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCCCCCA2613412679RAPSNc.789+43_789+44insGGGGGGGGA (n.789+43_789+44insGGGGGGGGA)
c.630+43_630+44insGGGGGGGGA (n.630+43_630+44insGGGGGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCA599374792RAPSNc.789+43_789+44insGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCA2613413072RAPSNc.789+43_789+44insGGGGGGGGCC (n.789+43_789+44insGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGCC (n.630+43_630+44insGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCA2613412601RAPSNc.789+43_789+44insGGGGGGGCCC (n.789+43_789+44insGGGGGGGCCC)
c.630+43_630+44insGGGGGGGCCC (n.630+43_630+44insGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCA2613412564RAPSNc.789+43_789+44insGGGGCGGCCC (n.789+43_789+44insGGGGCGGCCC)
c.630+43_630+44insGGGGCGGCCC (n.630+43_630+44insGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCCA2613412478RAPSNc.789+43_789+44insGGGGCCGCCC (n.789+43_789+44insGGGGCCGCCC)
c.630+43_630+44insGGGGCCGCCC (n.630+43_630+44insGGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insTCCCCCCCCCCA2613412661RAPSNc.789+43_789+44insGGGGGGGGGA (n.789+43_789+44insGGGGGGGGGA)
c.630+43_630+44insGGGGGGGGGA (n.630+43_630+44insGGGGGGGGGA)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCA2613412919RAPSNc.789+43_789+44insGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCA2613413068RAPSNc.789+43_789+44insGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCGCCCCCCCA2613412959RAPSNc.789+43_789+44insGGGGGGCGGCC (n.789+43_789+44insGGGGGGCGGCC)
c.630+43_630+44insGGGGGGCGGCC (n.630+43_630+44insGGGGGGCGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCA2613412597RAPSNc.789+43_789+44insGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCCA2613412562RAPSNc.789+43_789+44insGGGGGCGGCCC (n.789+43_789+44insGGGGGCGGCCC)
c.630+43_630+44insGGGGGCGGCCC (n.630+43_630+44insGGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCCCA2613412729RAPSNc.789+43_789+44insGGGGGCCGCCC (n.789+43_789+44insGGGGGCCGCCC)
c.630+43_630+44insGGGGGCCGCCC (n.630+43_630+44insGGGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGCCCCCCCA2613412824RAPSNc.789+43_789+44insGGGGGGCCCCC (n.789+43_789+44insGGGGGGCCCCC)
c.630+43_630+44insGGGGGGCCCCC (n.630+43_630+44insGGGGGGCCCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCCCCCA2613412814RAPSNc.789+43_789+44insGGGGGCCCCCC (n.789+43_789+44insGGGGGCCCCCC)
c.630+43_630+44insGGGGGCCCCCC (n.630+43_630+44insGGGGGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCA2613412910RAPSNc.789+43_789+44insGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCA2613413027RAPSNc.789+43_789+44insGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCCCCCA2613413006RAPSNc.789+43_789+44insGGGGGGCGGGCC (n.789+43_789+44insGGGGGGCGGGCC)
c.630+43_630+44insGGGGGGCGGGCC (n.630+43_630+44insGGGGGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCGGCCCCCCCA2613412979RAPSNc.789+43_789+44insGGGGGGCCGGCC (n.789+43_789+44insGGGGGGCCGGCC)
c.630+43_630+44insGGGGGGCCGGCC (n.630+43_630+44insGGGGGGCCGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCCA2613412593RAPSNc.789+43_789+44insGGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCCCA2613412558RAPSNc.789+43_789+44insGGGGGGCGGCCC (n.789+43_789+44insGGGGGGCGGCCC)
c.630+43_630+44insGGGGGGCGGCCC (n.630+43_630+44insGGGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGCCCCCCCA2613412781RAPSNc.789+43_789+44insGGGGGGCCCCCC (n.789+43_789+44insGGGGGGCCCCCC)
c.630+43_630+44insGGGGGGCCCCCC (n.630+43_630+44insGGGGGGCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCA2613412905RAPSNc.789+43_789+44insGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCCA2613412982RAPSNc.789+43_789+44insGGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCGCCCCCCCCA2613412551RAPSNc.789+43_789+44insGGGGGGGCGGCCC (n.789+43_789+44insGGGGGGGCGGCCC)
c.630+43_630+44insGGGGGGGCGGCCC (n.630+43_630+44insGGGGGGGCGGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGCCCCCCCCA2613412834RAPSNc.789+43_789+44insGGGGGGGCCGCCC (n.789+43_789+44insGGGGGGGCCGCCC)
c.630+43_630+44insGGGGGGGCCGCCC (n.630+43_630+44insGGGGGGGCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGCGGGCCCCCCCA2613412830RAPSNc.789+43_789+44insGGGGGGCCCGCCC (n.789+43_789+44insGGGGGGCCCGCCC)
c.630+43_630+44insGGGGGGCCCGCCC (n.630+43_630+44insGGGGGGCCCGCCC)
 gnomAD v4
11g.47441779_47441780insGGGGGGGCCCCCCCA2613412736RAPSNc.789+43_789+44insGGGGGGCCCCCCC (n.789+43_789+44insGGGGGGCCCCCCC)
c.630+43_630+44insGGGGGGCCCCCCC (n.630+43_630+44insGGGGGGCCCCCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCA2613412892RAPSNc.789+43_789+44insGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCGCCCCCCCCCA2613413151RAPSNc.789+43_789+44insGGGGGGGGCGGGGC (n.789+43_789+44insGGGGGGGGCGGGGC)
c.630+43_630+44insGGGGGGGGCGGGGC (n.630+43_630+44insGGGGGGGGCGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCCCA2613413023RAPSNc.789+43_789+44insGGGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCCCCCCCA2613413002RAPSNc.789+43_789+44insGGGGGGGGCGGGCC (n.789+43_789+44insGGGGGGGGCGGGCC)
c.630+43_630+44insGGGGGGGGCGGGCC (n.630+43_630+44insGGGGGGGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCCCCA2613412589RAPSNc.789+43_789+44insGGGGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCA2613412889RAPSNc.789+43_789+44insGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCGCCCCCCCCCCA2613413145RAPSNc.789+43_789+44insGGGGGGGGGCGGGGC (n.789+43_789+44insGGGGGGGGGCGGGGC)
c.630+43_630+44insGGGGGGGGGCGGGGC (n.630+43_630+44insGGGGGGGGGCGGGGC)
 gnomAD v4
11g.47441779_47441780insGGCCCCCCCCCCCCCCA2613413018RAPSNc.789+43_789+44insGGGGGGGGGGGGGCC (n.789+43_789+44insGGGGGGGGGGGGGCC)
c.630+43_630+44insGGGGGGGGGGGGGCC (n.630+43_630+44insGGGGGGGGGGGGGCC)
 gnomAD v4
11g.47441779_47441780insGGCCCGCCCCCCCCCCA2613412994RAPSNc.789+43_789+44insGGGGGGGGGCGGGCC (n.789+43_789+44insGGGGGGGGGCGGGCC)
c.630+43_630+44insGGGGGGGGGCGGGCC (n.630+43_630+44insGGGGGGGGGCGGGCC)
 gnomAD v4
11g.47441779_47441780insGGGCCCCCCCCCCCCCA2613412582RAPSNc.789+43_789+44insGGGGGGGGGGGGCCC (n.789+43_789+44insGGGGGGGGGGGGCCC)
c.630+43_630+44insGGGGGGGGGGGGCCC (n.630+43_630+44insGGGGGGGGGGGGCCC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCA2613412884RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCCA2613412880RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCCCCA2613412842RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441779_47441780insGCCCCCCCCCCCCCCCCCCCCCCCCA2613412988RAPSNc.789+43_789+44insGGGGGGGGGGGGGGGGGGGGGGGC (n.789+43_789+44insGGGGGGGGGGGGGGGGGGGGGGGC)
c.630+43_630+44insGGGGGGGGGGGGGGGGGGGGGGGC (n.630+43_630+44insGGGGGGGGGGGGGGGGGGGGGGGC)
 gnomAD v4
11g.47441780C>ACA5976631RAPSNc.789+43G>T (n.789+43G>T)
c.630+43G>T (n.630+43G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441780C=CA1969387647RAPSNc.789+43G= (n.789+43G=)
c.630+43G= (n.630+43G=)
11g.47441780C>GCA599374791RAPSNc.789+43G>C (n.789+43G>C)
c.630+43G>C (n.630+43G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441780C>TCA2613412640RAPSNc.789+43G>A (n.789+43G>A)
c.630+43G>A (n.630+43G>A)
 gnomAD v4
11g.47441783dupCA599374790RAPSNc.789+43dup (n.789+43dup)
c.630+43dup (n.630+43dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441783delCA2613412660RAPSNc.789+43del (n.789+43del)
c.630+43del (n.630+43del)
 gnomAD v4
11g.47441780_47441784delCA2613412656RAPSNc.789+39_789+43del (n.789+39_789+43del)
c.630+39_630+43del (n.630+39_630+43del)
 gnomAD v4
11g.47441791_47441797dupCA2574817147RAPSNc.789+37_789+43dup (n.789+37_789+43dup)
c.630+37_630+43dup (n.630+37_630+43dup)
 gnomAD v4
11g.47441791_47441797delCA937663729RAPSNc.789+37_789+43del (n.789+37_789+43del)
c.630+37_630+43del (n.630+37_630+43del)
 gnomAD v3 gnomAD v4
11g.47441781C>ACA2613413214RAPSNc.789+42G>T (n.789+42G>T)
c.630+42G>T (n.630+42G>T)
 gnomAD v4
11g.47441781C>GCA2613413215RAPSNc.789+42G>C (n.789+42G>C)
c.630+42G>C (n.630+42G>C)
 gnomAD v4
11g.47441781C>TCA2613413218RAPSNc.789+42G>A (n.789+42G>A)
c.630+42G>A (n.630+42G>A)
 gnomAD v4
11g.47441782C>ACA2613413227RAPSNc.789+41G>T (n.789+41G>T)
c.630+41G>T (n.630+41G>T)
 gnomAD v4
11g.47441782C=CA1969387648RAPSNc.789+41G= (n.789+41G=)
c.630+41G= (n.630+41G=)
11g.47441782C>GCA2613413240RAPSNc.789+41G>C (n.789+41G>C)
c.630+41G>C (n.630+41G>C)
 gnomAD v4
11g.47441782C>TCA5976632RAPSNc.789+41G>A (n.789+41G>A)
c.630+41G>A (n.630+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441782_47441784delCA2613413234RAPSNc.789+39_789+41del (n.789+39_789+41del)
c.630+39_630+41del (n.630+39_630+41del)
 gnomAD v4
11g.47441783C>ACA2613413248RAPSNc.789+40G>T (n.789+40G>T)
c.630+40G>T (n.630+40G>T)
 gnomAD v4
11g.47441783C>TCA2613413265RAPSNc.789+40G>A (n.789+40G>A)
c.630+40G>A (n.630+40G>A)
 gnomAD v4
11g.47441783_47441784delCA2551843271RAPSNc.789+39_789+40del (n.789+39_789+40del)
c.630+39_630+40del (n.630+39_630+40del)
 gnomAD v4
11g.47441783_47441785delinsCTGCA1969387649RAPSNc.789+38_789+40delinsCAG (n.789+38_789+40delinsCAG)
c.630+38_630+40delinsCAG (n.630+38_630+40delinsCAG)
11g.47441783_47441784insACA2613413274RAPSNc.789+39_789+40insT (n.789+39_789+40insT)
c.630+39_630+40insT (n.630+39_630+40insT)
 gnomAD v4
11g.47441784delCA2613413276RAPSNc.789+39del (n.789+39del)
c.630+39del (n.630+39del)
 gnomAD v4
11g.47441784T>ACA937663738RAPSNc.789+39A>T (n.789+39A>T)
c.630+39A>T (n.630+39A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.47441784T>CCA221716547RAPSNc.789+39A>G (n.789+39A>G)
c.630+39A>G (n.630+39A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441784T>GCA937663742RAPSNc.789+39A>C (n.789+39A>C)
c.630+39A>C (n.630+39A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.47441784T=CA1969387650RAPSNc.789+39A= (n.789+39A=)
c.630+39A= (n.630+39A=)
11g.47441784_47441785delCA599374798RAPSNc.789+38_789+39del (n.789+38_789+39del)
c.630+38_630+39del (n.630+38_630+39del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441784_47441785insCCA2564840810RAPSNc.789+38_789+39insG (n.789+38_789+39insG)
c.630+38_630+39insG (n.630+38_630+39insG)
11g.47441784_47441785insCCCCCCCCCCCCCCCCCA2613413283RAPSNc.789+38_789+39insGGGGGGGGGGGGGGGG (n.789+38_789+39insGGGGGGGGGGGGGGGG)
c.630+38_630+39insGGGGGGGGGGGGGGGG (n.630+38_630+39insGGGGGGGGGGGGGGGG)
 gnomAD v4
11g.47441785delCA2613413290RAPSNc.789+38del (n.789+38del)
c.630+38del (n.630+38del)
 gnomAD v4
11g.47441785G>ACA2613413288RAPSNc.789+38C>T (n.789+38C>T)
c.630+38C>T (n.630+38C>T)
 gnomAD v4
11g.47441785G>CCA599374801RAPSNc.789+38C>G (n.789+38C>G)
c.630+38C>G (n.630+38C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441785G=CA1969387651RAPSNc.789+38C= (n.789+38C=)
c.630+38C= (n.630+38C=)
11g.47441785G>TCA599374800RAPSNc.789+38C>A (n.789+38C>A)
c.630+38C>A (n.630+38C>A)
 gnomAD v2 gnomAD v3 gnomAD v4
11g.47441786C>ACA2613413305RAPSNc.789+37G>T (n.789+37G>T)
c.630+37G>T (n.630+37G>T)
 gnomAD v4
11g.47441786C>GCA2613413307RAPSNc.789+37G>C (n.789+37G>C)
c.630+37G>C (n.630+37G>C)
 gnomAD v4
11g.47441786C>TCA2574817148RAPSNc.789+37G>A (n.789+37G>A)
c.630+37G>A (n.630+37G>A)
 gnomAD v4
11g.47441790dupCA937663745RAPSNc.789+37dup (n.789+37dup)
c.630+37dup (n.630+37dup)
 gnomAD v3 gnomAD v4
11g.47441790delCA599374802RAPSNc.789+37del (n.789+37del)
c.630+37del (n.630+37del)
 gnomAD v2 gnomAD v4
11g.47441789_47441790delCA2613413300RAPSNc.789+36_789+37del (n.789+36_789+37del)
c.630+36_630+37del (n.630+36_630+37del)
 gnomAD v4
11g.47441787C>ACA5976633RAPSNc.789+36G>T (n.789+36G>T)
c.630+36G>T (n.630+36G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441787C=CA1969387652RAPSNc.789+36G= (n.789+36G=)
c.630+36G= (n.630+36G=)
11g.47441787C>TCA599374804RAPSNc.789+36G>A (n.789+36G>A)
c.630+36G>A (n.630+36G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.47441790_47441791insCCCCCCCCCCCCCCCCCCCTCCCCCA2613413328RAPSNc.789+36_789+37insAGGGGGGGGGGGGGGGGGGGGGGG (n.789+36_789+37insAGGGGGGGGGGGGGGGGGGGGGGG)
c.630+36_630+37insAGGGGGGGGGGGGGGGGGGGGGGG (n.630+36_630+37insAGGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
11g.47441794_47441806delCA2791336100RAPSNc.789+24_789+36del (n.789+24_789+36del)
c.630+24_630+36del (n.630+24_630+36del)
11g.47441787_47441788insACACA2791336101RAPSNc.789+35_789+36insTGT (n.789+35_789+36insTGT)
c.630+35_630+36insTGT (n.630+35_630+36insTGT)
11g.47441788C>ACA2613413336RAPSNc.789+35G>T (n.789+35G>T)
c.630+35G>T (n.630+35G>T)
 gnomAD v4
11g.47441788C=CA1969387653RAPSNc.789+35G= (n.789+35G=)
c.630+35G= (n.630+35G=)
11g.47441788C>TCA599374805RAPSNc.789+35G>A (n.789+35G>A)
c.630+35G>A (n.630+35G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.47441790_47441791insCCCCCCCCCCCCCCCCCCCTCCCCA2613413332RAPSNc.789+35_789+36insAGGGGGGGGGGGGGGGGGGGGGG (n.789+35_789+36insAGGGGGGGGGGGGGGGGGGGGGG)
c.630+35_630+36insAGGGGGGGGGGGGGGGGGGGGGG (n.630+35_630+36insAGGGGGGGGGGGGGGGGGGGGGG)
 gnomAD v4
11g.47441789C>ACA2613413341RAPSNc.789+34G>T (n.789+34G>T)
c.630+34G>T (n.630+34G>T)
 gnomAD v4
11g.47441789C=CA1969387654RAPSNc.789+34G= (n.789+34G=)
c.630+34G= (n.630+34G=)
11g.47441789C>TCA1969387655RAPSNc.789+34G>A (n.789+34G>A)
c.630+34G>A (n.630+34G>A)
 dbSNP
11g.47441791_47441794delCA2613413339RAPSNc.789+31_789+34del (n.789+31_789+34del)
c.630+31_630+34del (n.630+31_630+34del)
 gnomAD v4
11g.47441790C>ACA2613413349RAPSNc.789+33G>T (n.789+33G>T)
c.630+33G>T (n.630+33G>T)
 gnomAD v4
11g.47441790C=CA1969387657RAPSNc.789+33G= (n.789+33G=)
c.630+33G= (n.630+33G=)
11g.47441790C>TCA1969387656RAPSNc.789+33G>A (n.789+33G>A)
c.630+33G>A (n.630+33G>A)
 dbSNP gnomAD v4
11g.47441790_47441791delCA2559925132RAPSNc.789+32_789+33del (n.789+32_789+33del)
c.630+32_630+33del (n.630+32_630+33del)
11g.47441790_47441792delinsCTGCA1969387658RAPSNc.789+31_789+33delinsCAG (n.789+31_789+33delinsCAG)
c.630+31_630+33delinsCAG (n.630+31_630+33delinsCAG)
11g.47441791_47441793delCA2613413347RAPSNc.789+31_789+33del (n.789+31_789+33del)
c.630+31_630+33del (n.630+31_630+33del)
 dbSNP gnomAD v4
11g.47441791delCA599374810RAPSNc.789+32del (n.789+32del)
c.630+32del (n.630+32del)
 gnomAD v2 gnomAD v3 gnomAD v4
11g.47441791T>ACA937663749RAPSNc.789+32A>T (n.789+32A>T)
c.630+32A>T (n.630+32A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.47441791T>CCA599374808RAPSNc.789+32A>G (n.789+32A>G)
c.630+32A>G (n.630+32A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441791T=CA1969387659RAPSNc.789+32A= (n.789+32A=)
c.630+32A= (n.630+32A=)
11g.47441791_47441792delCA599374807RAPSNc.789+31_789+32del (n.789+31_789+32del)
c.630+31_630+32del (n.630+31_630+32del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441792G>ACA599374813RAPSNc.789+31C>T (n.789+31C>T)
c.630+31C>T (n.630+31C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47441792G>CCA599374814RAPSNc.789+31C>G (n.789+31C>G)
c.630+31C>G (n.630+31C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441792G=CA1969387660RAPSNc.789+31C= (n.789+31C=)
c.630+31C= (n.630+31C=)
11g.47441792G>TCA937663757RAPSNc.789+31C>A (n.789+31C>A)
c.630+31C>A (n.630+31C>A)
 gnomAD v3 gnomAD v4
11g.47441797_47441803dupCA599374812RAPSNc.789+25_789+31dup (n.789+25_789+31dup)
c.630+25_630+31dup (n.630+25_630+31dup)
 gnomAD v2 gnomAD v4
11g.47441793C>ACA2613413365RAPSNc.789+30G>T (n.789+30G>T)
c.630+30G>T (n.630+30G>T)
 gnomAD v4
11g.47441793C=CA1969387661RAPSNc.789+30G= (n.789+30G=)
c.630+30G= (n.630+30G=)
11g.47441793C>TCA5976634RAPSNc.789+30G>A (n.789+30G>A)
c.630+30G>A (n.630+30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441797_47441798insCCCCCCCA2613413366RAPSNc.789+30_789+31insGGGGGG (n.789+30_789+31insGGGGGG)
c.630+30_630+31insGGGGGG (n.630+30_630+31insGGGGGG)
 gnomAD v4
11g.47441797delCA2574817149RAPSNc.789+30del (n.789+30del)
c.630+30del (n.630+30del)
 gnomAD v4
11g.47441794C>ACA2613413371RAPSNc.789+29G>T (n.789+29G>T)
c.630+29G>T (n.630+29G>T)
 gnomAD v4
11g.47441794C=CA1969387662RAPSNc.789+29G= (n.789+29G=)
c.630+29G= (n.630+29G=)
11g.47441794C>GCA2613413375RAPSNc.789+29G>C (n.789+29G>C)
c.630+29G>C (n.630+29G>C)
 gnomAD v4
11g.47441794C>TCA599374815RAPSNc.789+29G>A (n.789+29G>A)
c.630+29G>A (n.630+29G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.47441795C>ACA2613413379RAPSNc.789+28G>T (n.789+28G>T)
c.630+28G>T (n.630+28G>T)
 gnomAD v4
11g.47441795C=CA1969387663RAPSNc.789+28G= (n.789+28G=)
c.630+28G= (n.630+28G=)
11g.47441795C>GCA599374816RAPSNc.789+28G>C (n.789+28G>C)
c.630+28G>C (n.630+28G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.47441795C>TCA2613413385RAPSNc.789+28G>A (n.789+28G>A)
c.630+28G>A (n.630+28G>A)
 gnomAD v4
11g.47441795_47441798delCA2564174804RAPSNc.789+25_789+28del (n.789+25_789+28del)
c.630+25_630+28del (n.630+25_630+28del)
11g.47441796C>ACA2613413390RAPSNc.789+27G>T (n.789+27G>T)
c.630+27G>T (n.630+27G>T)
 gnomAD v4
11g.47441796C>TCA2613413387RAPSNc.789+27G>A (n.789+27G>A)
c.630+27G>A (n.630+27G>A)
 gnomAD v4
11g.47441797C>ACA2613413392RAPSNc.789+26G>T (n.789+26G>T)
c.630+26G>T (n.630+26G>T)
 gnomAD v4
11g.47441797C>TCA2574817150RAPSNc.789+26G>A (n.789+26G>A)
c.630+26G>A (n.630+26G>A)
 gnomAD v4
11g.47441797_47441799delinsCAGCA1969387664RAPSNc.789+24_789+26delinsCTG (n.789+24_789+26delinsCTG)
c.630+24_630+26delinsCTG (n.630+24_630+26delinsCTG)
11g.47441798_47441800delCA2527938009RAPSNc.789+24_789+26del (n.789+24_789+26del)
c.630+24_630+26del (n.630+24_630+26del)
11g.47441798A=CA1969387665RAPSNc.789+25T= (n.789+25T=)
c.630+25T= (n.630+25T=)
11g.47441798A>CCA221716573RAPSNc.789+25T>G (n.789+25T>G)
c.630+25T>G (n.630+25T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441798A>GCA1969387666RAPSNc.789+25T>C (n.789+25T>C)
c.630+25T>C (n.630+25T>C)
 dbSNP
11g.47441798_47441799delCA599374817RAPSNc.789+24_789+25del (n.789+24_789+25del)
c.630+24_630+25del (n.630+24_630+25del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441799G>ACA599374820RAPSNc.789+24C>T (n.789+24C>T)
c.630+24C>T (n.630+24C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47441799G>CCA599374819RAPSNc.789+24C>G (n.789+24C>G)
c.630+24C>G (n.630+24C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441799G=CA1969387667RAPSNc.789+24C= (n.789+24C=)
c.630+24C= (n.630+24C=)
11g.47441799G>TCA2568268344RAPSNc.789+24C>A (n.789+24C>A)
c.630+24C>A (n.630+24C>A)
 gnomAD v4
11g.47441800C>ACA2613413405RAPSNc.789+23G>T (n.789+23G>T)
c.630+23G>T (n.630+23G>T)
 gnomAD v4
11g.47441800C=CA1969387668RAPSNc.789+23G= (n.789+23G=)
c.630+23G= (n.630+23G=)
11g.47441800C>GCA677010352RAPSNc.789+23G>C (n.789+23G>C)
c.630+23G>C (n.630+23G>C)
 dbSNP
11g.47441800C>TCA5976635RAPSNc.789+23G>A (n.789+23G>A)
c.630+23G>A (n.630+23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441803_47441804insCCCCCCCCCCCCA599374821RAPSNc.789+23_789+24insGGGGGGGGGGG (n.789+23_789+24insGGGGGGGGGGG)
c.630+23_630+24insGGGGGGGGGGG (n.630+23_630+24insGGGGGGGGGGG)
 gnomAD v2 gnomAD v3 gnomAD v4
11g.47441801C>ACA2613413409RAPSNc.789+22G>T (n.789+22G>T)
c.630+22G>T (n.630+22G>T)
 gnomAD v4
11g.47441801C>TCA2613413410RAPSNc.789+22G>A (n.789+22G>A)
c.630+22G>A (n.630+22G>A)
 gnomAD v4
11g.47441802C>ACA2613413413RAPSNc.789+21G>T (n.789+21G>T)
c.630+21G>T (n.630+21G>T)
 gnomAD v4
11g.47441802C>TCA2613413418RAPSNc.789+21G>A (n.789+21G>A)
c.630+21G>A (n.630+21G>A)
 gnomAD v4
11g.47441803C>ACA2613413421RAPSNc.789+20G>T (n.789+20G>T)
c.630+20G>T (n.630+20G>T)
 gnomAD v4
11g.47441803C>TCA2613413423RAPSNc.789+20G>A (n.789+20G>A)
c.630+20G>A (n.630+20G>A)
 gnomAD v4
11g.47441803_47441808delinsCTGCATCA1969387669RAPSNc.789+15_789+20delinsATGCAG (n.789+15_789+20delinsATGCAG)
c.630+15_630+20delinsATGCAG (n.630+15_630+20delinsATGCAG)
11g.47441804T>ACA937663770RAPSNc.789+19A>T (n.789+19A>T)
c.630+19A>T (n.630+19A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.47441804T>CCA599374824RAPSNc.789+19A>G (n.789+19A>G)
c.630+19A>G (n.630+19A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441804T=CA1969387670RAPSNc.789+19A= (n.789+19A=)
c.630+19A= (n.630+19A=)
11g.47441804_47441805delCA599374823RAPSNc.789+18_789+19del (n.789+18_789+19del)
c.630+18_630+19del (n.630+18_630+19del)
 gnomAD v2 gnomAD v3 gnomAD v4
11g.47441804_47441808delCA599374822RAPSNc.789+15_789+19del (n.789+15_789+19del)
c.630+15_630+19del (n.630+15_630+19del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441805G>ACA2613413427RAPSNc.789+18C>T (n.789+18C>T)
c.630+18C>T (n.630+18C>T)
 gnomAD v4
11g.47441805G>CCA599374825RAPSNc.789+18C>G (n.789+18C>G)
c.630+18C>G (n.630+18C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441805G=CA1969387671RAPSNc.789+18C= (n.789+18C=)
c.630+18C= (n.630+18C=)
11g.47441805G>TCA2613413428RAPSNc.789+18C>A (n.789+18C>A)
c.630+18C>A (n.630+18C>A)
 gnomAD v4
11g.47441806C>ACA2574817151RAPSNc.789+17G>T (n.789+17G>T)
c.630+17G>T (n.630+17G>T)
 ClinVar gnomAD v4
11g.47441806C=CA1969387672RAPSNc.789+17G= (n.789+17G=)
c.630+17G= (n.630+17G=)
11g.47441806C>TCA5976636RAPSNc.789+17G>A (n.789+17G>A)
c.630+17G>A (n.630+17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441806dupCA2613413433RAPSNc.789+17dup (n.789+17dup)
c.630+17dup (n.630+17dup)
 gnomAD v4
11g.47441807A=CA1969387673RAPSNc.789+16T= (n.789+16T=)
c.630+16T= (n.630+16T=)
11g.47441807A>CCA599374828RAPSNc.789+16T>G (n.789+16T>G)
c.630+16T>G (n.630+16T>G)
 gnomAD v2 gnomAD v3 gnomAD v4
11g.47441807A>GCA599374827RAPSNc.789+16T>C (n.789+16T>C)
c.630+16T>C (n.630+16T>C)
 gnomAD v2 gnomAD v4
11g.47441807dupCA2613413440RAPSNc.789+16dup (n.789+16dup)
c.630+16dup (n.630+16dup)
 dbSNP gnomAD v4
11g.47441808T>ACA937663780RAPSNc.789+15A>T (n.789+15A>T)
c.630+15A>T (n.630+15A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.47441808T>CCA599374830RAPSNc.789+15A>G (n.789+15A>G)
c.630+15A>G (n.630+15A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441808T=CA1969387674RAPSNc.789+15A= (n.789+15A=)
c.630+15A= (n.630+15A=)
11g.47441811_47441826dupCA5976637RAPSNc.789_789+15dup
c.630_630+15dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441809C>ACA599374832RAPSNc.789+14G>T (n.789+14G>T)
c.630+14G>T (n.630+14G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.47441809C=CA1969387675RAPSNc.789+14G= (n.789+14G=)
c.630+14G= (n.630+14G=)
11g.47441809C>GCA599374833RAPSNc.789+14G>C (n.789+14G>C)
c.630+14G>C (n.630+14G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.47441809C>TCA677010360RAPSNc.789+14G>A (n.789+14G>A)
c.630+14G>A (n.630+14G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.47441810C>ACA2613413451RAPSNc.789+13G>T (n.789+13G>T)
c.630+13G>T (n.630+13G>T)
 gnomAD v4
11g.47441811C>ACA2613413461RAPSNc.789+12G>T (n.789+12G>T)
c.630+12G>T (n.630+12G>T)
 gnomAD v4
11g.47441811C=CA1969387676RAPSNc.789+12G= (n.789+12G=)
c.630+12G= (n.630+12G=)
11g.47441811C>TCA5976638RAPSNc.789+12G>A (n.789+12G>A)
c.630+12G>A (n.630+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441812G>ACA5976640RAPSNc.789+11C>T (n.789+11C>T)
c.630+11C>T (n.630+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441812G>CCA5976639RAPSNc.789+11C>G (n.789+11C>G)
c.630+11C>G (n.630+11C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441812G=CA1969387677RAPSNc.789+11C= (n.789+11C=)
c.630+11C= (n.630+11C=)
11g.47441812G>TCA2613413495RAPSNc.789+11C>A (n.789+11C>A)
c.630+11C>A (n.630+11C>A)
 gnomAD v4
11g.47441812_47441816delCA937663788RAPSNc.789+7_789+11del (n.789+7_789+11del)
c.630+7_630+11del (n.630+7_630+11del)
 gnomAD v3 gnomAD v4
11g.47441813G>CCA1969387679RAPSNc.789+10C>G (n.789+10C>G)
c.630+10C>G (n.630+10C>G)
 dbSNP gnomAD v4
11g.47441813G=CA1969387678RAPSNc.789+10C= (n.789+10C=)
c.630+10C= (n.630+10C=)
11g.47441813G>TCA2613413503RAPSNc.789+10C>A (n.789+10C>A)
c.630+10C>A (n.630+10C>A)
 gnomAD v4
11g.47441814T>GCA2613413504RAPSNc.789+9A>C (n.789+9A>C)
c.630+9A>C (n.630+9A>C)
 gnomAD v4
11g.47441815delCA2791336102RAPSNc.789+8del (n.789+8del)
c.630+8del (n.630+8del)
11g.47441815G>CCA2580084186RAPSNc.789+8C>G (n.789+8C>G)
c.630+8C>G (n.630+8C>G)
 ClinVar
11g.47441815G>TCA2613413508RAPSNc.789+8C>A (n.789+8C>A)
c.630+8C>A (n.630+8C>A)
 gnomAD v4
11g.47441817C>ACA2613413523RAPSNc.789+6G>T (n.789+6G>T)
c.630+6G>T (n.630+6G>T)
 gnomAD v4
11g.47441818C>TCA2613413526RAPSNc.789+5G>A (n.789+5G>A)
c.630+5G>A (n.630+5G>A)
 gnomAD v4
11g.47441819T>CCA2613413527RAPSNc.789+4A>G (n.789+4A>G)
c.630+4A>G (n.630+4A>G)
 gnomAD v4
11g.47441820C>ACA2613413533RAPSNc.789+3G>T (n.789+3G>T)
c.630+3G>T (n.630+3G>T)
 gnomAD v4
11g.47441820C=CA1969387680RAPSNc.789+3G= (n.789+3G=)
c.630+3G= (n.630+3G=)
11g.47441820C>TCA1969387681RAPSNc.789+3G>A (n.789+3G>A)
c.630+3G>A (n.630+3G>A)
 dbSNP gnomAD v4
11g.47441821A>CCA380329882RAPSNc.789+2T>G (n.789+2T>G)
c.630+2T>G (n.630+2T>G)
 gnomAD v3 gnomAD v4
11g.47441821A>GCA380329884RAPSNc.789+2T>C (n.789+2T>C)
c.630+2T>C (n.630+2T>C)
 gnomAD v4
11g.47441821A>TCA380329887RAPSNc.789+2T>A (n.789+2T>A)
c.630+2T>A (n.630+2T>A)
11g.47441822C>ACA380329888RAPSNc.789+1G>T (n.789+1G>T)
c.630+1G>T (n.630+1G>T)
 gnomAD v4
11g.47441822C>GCA380329889RAPSNc.789+1G>C (n.789+1G>C)
c.630+1G>C (n.630+1G>C)
11g.47441822C>TCA380329890RAPSNc.789+1G>A (n.789+1G>A)
c.630+1G>A (n.630+1G>A)
11g.47441823C>ACA380329893RAPSNc.789G>T (p.Glu263Asp)
c.630G>T (p.Glu210Asp)
 gnomAD v4
11g.47441823C>GCA380329892RAPSNc.789G>C (p.Glu263Asp)
c.630G>C (p.Glu210Asp)
11g.47441823C>TCA474218211RAPSNc.789G>A (p.Glu263=)
c.630G>A (p.Glu210=)
 gnomAD v4
11g.47441824T>ACA380329896RAPSNc.788A>T (p.Glu263Val)
c.629A>T (p.Glu210Val)
 gnomAD v4
11g.47441824T>CCA380329898RAPSNc.788A>G (p.Glu263Gly)
c.629A>G (p.Glu210Gly)
11g.47441824T>GCA380329904RAPSNc.788A>C (p.Glu263Ala)
c.629A>C (p.Glu210Ala)
11g.47441825C>ACA380329907RAPSNc.787G>T (p.Glu263Ter)
c.628G>T (p.Glu210Ter)
 gnomAD v4
11g.47441825C>GCA380329909RAPSNc.787G>C (p.Glu263Gln)
c.628G>C (p.Glu210Gln)
11g.47441825C>TCA380329910RAPSNc.787G>A (p.Glu263Lys)
c.628G>A (p.Glu210Lys)
11g.47441826C>ACA474218213RAPSNc.786G>T (p.Leu262=)
c.627G>T (p.Leu209=)
 gnomAD v4
11g.47441826C>GCA474218214RAPSNc.786G>C (p.Leu262=)
c.627G>C (p.Leu209=)
11g.47441826C>TCA474218215RAPSNc.786G>A (p.Leu262=)
c.627G>A (p.Leu209=)
 gnomAD v4
11g.47441827A>CCA380329913RAPSNc.785T>G (p.Leu262Arg)
c.626T>G (p.Leu209Arg)
11g.47441827A>GCA380329915RAPSNc.785T>C (p.Leu262Pro)
c.626T>C (p.Leu209Pro)
 gnomAD v4
11g.47441827A>TCA380329914RAPSNc.785T>A (p.Leu262Gln)
c.626T>A (p.Leu209Gln)
11g.47441827_47441828delCA1462199068RAPSNc.784_785del (p.Leu262GlyfsTer?)
c.625_626del (p.Leu209GlyfsTer?)
11g.47441828G>ACA221716601RAPSNc.784C>T (p.Leu262=)
c.625C>T (p.Leu209=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441828G>CCA380329916RAPSNc.784C>G (p.Leu262Val)
c.625C>G (p.Leu209Val)
 ClinVar
11g.47441828G=CA1969387682RAPSNc.784C= (p.Leu262=)
c.625C= (p.Leu209=)
11g.47441828G>TCA380329918RAPSNc.784C>A (p.Leu262Met)
c.625C>A (p.Leu209Met)
 gnomAD v4
11g.47441829G>ACA474218219RAPSNc.783C>T (p.Asp261=)
c.624C>T (p.Asp208=)
 ClinVar dbSNP gnomAD v4
11g.47441829G>CCA380329920RAPSNc.783C>G (p.Asp261Glu)
c.624C>G (p.Asp208Glu)
11g.47441829G=CA1969387683RAPSNc.783C= (p.Asp261=)
c.624C= (p.Asp208=)
11g.47441829G>TCA380329921RAPSNc.783C>A (p.Asp261Glu)
c.624C>A (p.Asp208Glu)
 gnomAD v4
11g.47441830T>ACA380329928RAPSNc.782A>T (p.Asp261Val)
c.623A>T (p.Asp208Val)
11g.47441830T>CCA380329930RAPSNc.782A>G (p.Asp261Gly)
c.623A>G (p.Asp208Gly)
11g.47441830T>GCA380329932RAPSNc.782A>C (p.Asp261Ala)
c.623A>C (p.Asp208Ala)
11g.47441831C>ACA380329934RAPSNc.781G>T (p.Asp261Tyr)
c.622G>T (p.Asp208Tyr)
 gnomAD v4
11g.47441831C=CA1969387684RAPSNc.781G= (p.Asp261=)
c.622G= (p.Asp208=)
11g.47441831C>GCA380329936RAPSNc.781G>C (p.Asp261His)
c.622G>C (p.Asp208His)
11g.47441831C>TCA5976641RAPSNc.781G>A (p.Asp261Asn)
c.622G>A (p.Asp208Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441834delCA2613413576RAPSNc.781del (p.Asp261ThrfsTer13)
c.781del (p.Asp261ThrfsTer4)
c.622del (p.Asp208ThrfsTer13)
c.781del (p.Asp261ThrfsTer22)
 gnomAD v4
11g.47441832C>ACA474218222RAPSNc.780G>T (p.Gly260=)
c.621G>T (p.Gly207=)
11g.47441832C=CA1969387685RAPSNc.780G= (p.Gly260=)
c.621G= (p.Gly207=)
11g.47441832C>GCA474218223RAPSNc.780G>C (p.Gly260=)
c.621G>C (p.Gly207=)
11g.47441832C>TCA474218224RAPSNc.780G>A (p.Gly260=)
c.621G>A (p.Gly207=)
 dbSNP gnomAD v3 gnomAD v4
11g.47441833C>ACA380329942RAPSNc.779G>T (p.Gly260Val)
c.620G>T (p.Gly207Val)
 gnomAD v4
11g.47441833C>GCA380329944RAPSNc.779G>C (p.Gly260Ala)
c.620G>C (p.Gly207Ala)
11g.47441833C>TCA380329945RAPSNc.779G>A (p.Gly260Glu)
c.620G>A (p.Gly207Glu)
11g.47441834C>ACA380329951RAPSNc.778G>T (p.Gly260Trp)
c.619G>T (p.Gly207Trp)
 gnomAD v4
11g.47441834C>GCA380329949RAPSNc.778G>C (p.Gly260Arg)
c.619G>C (p.Gly207Arg)
11g.47441834C>TCA380329946RAPSNc.778G>A (p.Gly260Arg)
c.619G>A (p.Gly207Arg)
 gnomAD v4
11g.47441835A>CCA474218229RAPSNc.777T>G (p.Arg259=)
c.618T>G (p.Arg206=)
11g.47441835A>GCA474218230RAPSNc.777T>C (p.Arg259=)
c.618T>C (p.Arg206=)
 gnomAD v4
11g.47441835A>TCA474218228RAPSNc.777T>A (p.Arg259=)
c.618T>A (p.Arg206=)
11g.47441836C>ACA380329952RAPSNc.776G>T (p.Arg259Leu)
c.617G>T (p.Arg206Leu)
 gnomAD v4
11g.47441836C=CA1969387686RAPSNc.776G= (p.Arg259=)
c.617G= (p.Arg206=)
11g.47441836C>GCA380329954RAPSNc.776G>C (p.Arg259Pro)
c.617G>C (p.Arg206Pro)
 gnomAD v4
11g.47441836C>TCA5976642RAPSNc.776G>A (p.Arg259His)
c.617G>A (p.Arg206His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441837G>ACA5976643RAPSNc.775C>T (p.Arg259Cys)
c.616C>T (p.Arg206Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441837G>CCA5976644RAPSNc.775C>G (p.Arg259Gly)
c.616C>G (p.Arg206Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441837G=CA1969387687RAPSNc.775C= (p.Arg259=)
c.616C= (p.Arg206=)
11g.47441837G>TCA380329966RAPSNc.775C>A (p.Arg259Ser)
c.616C>A (p.Arg206Ser)
 gnomAD v4
11g.47441838G>ACA474218231RAPSNc.774C>T (p.Ser258=)
c.615C>T (p.Ser205=)
 ClinVar dbSNP gnomAD v4
11g.47441838G>CCA380329970RAPSNc.774C>G (p.Ser258Arg)
c.615C>G (p.Ser205Arg)
11g.47441838G>TCA380329973RAPSNc.774C>A (p.Ser258Arg)
c.615C>A (p.Ser205Arg)
 gnomAD v4
11g.47441839C>ACA380329976RAPSNc.773G>T (p.Ser258Ile)
c.614G>T (p.Ser205Ile)
 gnomAD v4
11g.47441839C>GCA380329978RAPSNc.773G>C (p.Ser258Thr)
c.614G>C (p.Ser205Thr)
11g.47441839C>TCA380329981RAPSNc.773G>A (p.Ser258Asn)
c.614G>A (p.Ser205Asn)
 gnomAD v4 COSMIC
11g.47441840T>ACA380329985RAPSNc.772A>T (p.Ser258Cys)
c.613A>T (p.Ser205Cys)
11g.47441840T>CCA380329987RAPSNc.772A>G (p.Ser258Gly)
c.613A>G (p.Ser205Gly)
 gnomAD v4
11g.47441840T>GCA380329989RAPSNc.772A>C (p.Ser258Arg)
c.613A>C (p.Ser205Arg)
11g.47441841C>ACA474218233RAPSNc.771G>T (p.Arg257=)
c.612G>T (p.Arg204=)
 gnomAD v4
11g.47441841C>GCA474218235RAPSNc.771G>C (p.Arg257=)
c.612G>C (p.Arg204=)
11g.47441841C>TCA474218234RAPSNc.771G>A (p.Arg257=)
c.612G>A (p.Arg204=)
 gnomAD v4
11g.47441842C>ACA380329996RAPSNc.770G>T (p.Arg257Leu)
c.611G>T (p.Arg204Leu)
 gnomAD v4
11g.47441842C=CA1969387688RAPSNc.770G= (p.Arg257=)
c.611G= (p.Arg204=)
11g.47441842C>GCA380329998RAPSNc.770G>C (p.Arg257Pro)
c.611G>C (p.Arg204Pro)
 gnomAD v4
11g.47441842C>TCA5976645RAPSNc.770G>A (p.Arg257Gln)
c.611G>A (p.Arg204Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441843G>ACA5976646RAPSNc.769C>T (p.Arg257Trp)
c.610C>T (p.Arg204Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441843G>CCA380330004RAPSNc.769C>G (p.Arg257Gly)
c.610C>G (p.Arg204Gly)
 ClinVar
11g.47441843G=CA1969387689RAPSNc.769C= (p.Arg257=)
c.610C= (p.Arg204=)
11g.47441843G>TCA474218236RAPSNc.769C>A (p.Arg257=)
c.610C>A (p.Arg204=)
 gnomAD v4

Number of alleles fetched