Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71511762_71511763insAAGGGCAGTGGTCCCA1260076306DYSFc.343-45_343-44insAAGGGCAGTGGTCC (n.343-45_343-44insAAGGGCAGTGGTCC)
c.346-45_346-44insAAGGGCAGTGGTCC (n.346-45_346-44insAAGGGCAGTGGTCC)
n.504-45_504-44insAAGGGCAGTGGTCC
 dbSNP
2g.71511759G>ACA49756196DYSFc.343-48G>A (n.343-48G>A)
c.346-48G>A (n.346-48G>A)
n.504-48G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511759G=CA1260076312DYSFc.343-48G= (n.343-48G=)
c.346-48G= (n.346-48G=)
n.504-48G=
2g.71511759G>TCA2659543441DYSFc.343-48G>T (n.343-48G>T)
c.346-48G>T (n.346-48G>T)
n.504-48G>T
 gnomAD v4
2g.71511761C>ACA2576999559DYSFc.343-46C>A (n.343-46C>A)
c.346-46C>A (n.346-46C>A)
n.504-46C>A
 gnomAD v4
2g.71511762C>ACA1260076313DYSFc.343-45C>A (n.343-45C>A)
c.346-45C>A (n.346-45C>A)
n.504-45C>A
 dbSNP gnomAD v4
2g.71511762C=CA1260076314DYSFc.343-45C= (n.343-45C=)
c.346-45C= (n.346-45C=)
n.504-45C=
2g.71511762C>TCA533252867DYSFc.343-45C>T (n.343-45C>T)
c.346-45C>T (n.346-45C>T)
n.504-45C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511763G>ACA1705330DYSFc.343-44G>A (n.343-44G>A)
c.346-44G>A (n.346-44G>A)
n.504-44G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511763G>CCA49756218DYSFc.343-44G>C (n.343-44G>C)
c.346-44G>C (n.346-44G>C)
n.504-44G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511763G=CA1260076315DYSFc.343-44G= (n.343-44G=)
c.346-44G= (n.346-44G=)
n.504-44G=
2g.71511763G>TCA2659543442DYSFc.343-44G>T (n.343-44G>T)
c.346-44G>T (n.346-44G>T)
n.504-44G>T
 gnomAD v4
2g.71511765G>CCA1260076317DYSFc.343-42G>C (n.343-42G>C)
c.346-42G>C (n.346-42G>C)
n.504-42G>C
 dbSNP
2g.71511765G=CA1260076316DYSFc.343-42G= (n.343-42G=)
c.346-42G= (n.346-42G=)
n.504-42G=
2g.71511765G>TCA49756225DYSFc.343-42G>T (n.343-42G>T)
c.346-42G>T (n.346-42G>T)
n.504-42G>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511765_71511766insTGCAGTGGTCCGATCA2659543443DYSFc.343-42_343-41insTGCAGTGGTCCGAT (n.343-42_343-41insTGCAGTGGTCCGAT)
c.346-42_346-41insTGCAGTGGTCCGAT (n.346-42_346-41insTGCAGTGGTCCGAT)
n.504-42_504-41insTGCAGTGGTCCGAT
 gnomAD v4
2g.71511766G=CA1260076318DYSFc.343-41G= (n.343-41G=)
c.346-41G= (n.346-41G=)
n.504-41G=
2g.71511766G>TCA2510937218DYSFc.343-41G>T (n.343-41G>T)
c.346-41G>T (n.346-41G>T)
n.504-41G>T
 gnomAD v4
2g.71511766_71511767insGCAGTGGTCCGATGCA1705331DYSFc.343-41_343-40insGCAGTGGTCCGATG (n.343-41_343-40insGCAGTGGTCCGATG)
c.346-41_346-40insGCAGTGGTCCGATG (n.346-41_346-40insGCAGTGGTCCGATG)
n.504-41_504-40insGCAGTGGTCCGATG
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511766_71511767insTTTATAGATGAGGAAACA1705332DYSFc.343-41_343-40insTTTATAGATGAGGAAA (n.343-41_343-40insTTTATAGATGAGGAAA)
c.346-41_346-40insTTTATAGATGAGGAAA (n.346-41_346-40insTTTATAGATGAGGAAA)
n.504-41_504-40insTTTATAGATGAGGAAA
 dbSNP ExAC
2g.71511766_71511767insTTTATAGATGAGGAAACTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCACACAGCTCA916563661DYSFc.343-41_343-40insTTTATAGATGAGGAAACTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCACACAGCT (n.343-41_343-40insTTTATAGATGAGGAAACTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCACACAGCT)
c.346-41_346-40insTTTATAGATGAGGAAACTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCACACAGCT (n.346-41_346-40insTTTATAGATGAGGAAACTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCACACAGCT)
n.504-41_504-40insTTTATAGATGAGGAAACTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCACACAGCT
 dbSNP
2g.71511767C>ACA1260076320DYSFc.343-40C>A (n.343-40C>A)
c.346-40C>A (n.346-40C>A)
n.504-40C>A
 dbSNP gnomAD v4
2g.71511767C=CA1260076319DYSFc.343-40C= (n.343-40C=)
c.346-40C= (n.346-40C=)
n.504-40C=
2g.71511767C>GCA1260076321DYSFc.343-40C>G (n.343-40C>G)
c.346-40C>G (n.346-40C>G)
n.504-40C>G
 dbSNP gnomAD v4
2g.71511767_71511768insTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCACA1705333DYSFc.343-40_343-39insTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCA (n.343-40_343-39insTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCA)
c.346-40_346-39insTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCA (n.346-40_346-39insTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCA)
n.504-40_504-39insTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCA
 dbSNP ExAC
2g.71511768C>TCA2576999562DYSFc.343-39C>T (n.343-39C>T)
c.346-39C>T (n.346-39C>T)
n.504-39C>T
 gnomAD v4
2g.71511770delCA2659543444DYSFc.343-37del (n.343-37del)
c.346-37del (n.346-37del)
n.504-37del
 gnomAD v4
2g.71511771C>ACA2576999564DYSFc.343-36C>A (n.343-36C>A)
c.346-36C>A (n.346-36C>A)
n.504-36C>A
 gnomAD v4
2g.71511771C=CA1260076322DYSFc.343-36C= (n.343-36C=)
c.346-36C= (n.346-36C=)
n.504-36C=
2g.71511771C>GCA2576999565DYSFc.343-36C>G (n.343-36C>G)
c.346-36C>G (n.346-36C>G)
n.504-36C>G
 gnomAD v4
2g.71511771C>TCA49756256DYSFc.343-36C>T (n.343-36C>T)
c.346-36C>T (n.346-36C>T)
n.504-36C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.71511772G>ACA1705334DYSFc.343-35G>A (n.343-35G>A)
c.346-35G>A (n.346-35G>A)
n.504-35G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511772G=CA1260076323DYSFc.343-35G= (n.343-35G=)
c.346-35G= (n.346-35G=)
n.504-35G=
2g.71511773C>ACA2576999566DYSFc.343-34C>A (n.343-34C>A)
c.346-34C>A (n.346-34C>A)
n.504-34C>A
 gnomAD v4
2g.71511773C=CA1260076324DYSFc.343-34C= (n.343-34C=)
c.346-34C= (n.346-34C=)
n.504-34C=
2g.71511773C>TCA1260076325DYSFc.343-34C>T (n.343-34C>T)
c.346-34C>T (n.346-34C>T)
n.504-34C>T
 dbSNP gnomAD v4
2g.71511774A=CA1260076327DYSFc.343-33A= (n.343-33A=)
c.346-33A= (n.346-33A=)
n.504-33A=
2g.71511774A>CCA1260076328DYSFc.343-33A>C (n.343-33A>C)
c.346-33A>C (n.346-33A>C)
n.504-33A>C
 dbSNP
2g.71511774_71511776delinsACCCA1260076326DYSFc.343-33_343-31delinsACC (n.343-33_343-31delinsACC)
c.346-33_346-31delinsACC (n.346-33_346-31delinsACC)
n.504-33_504-31delinsACC
2g.71511775C>ACA2659543445DYSFc.343-32C>A (n.343-32C>A)
c.346-32C>A (n.346-32C>A)
n.504-32C>A
 dbSNP gnomAD v4
2g.71511775C>TCA2659543446DYSFc.343-32C>T (n.343-32C>T)
c.346-32C>T (n.346-32C>T)
n.504-32C>T
 gnomAD v4
2g.71511775_71511776delinsTCA916563663DYSFc.343-32_343-31delinsT (n.343-32_343-31delinsT)
c.346-32_346-31delinsT (n.346-32_346-31delinsT)
n.504-32_504-31delinsT
 dbSNP
2g.71511776C>ACA2659543447DYSFc.343-31C>A (n.343-31C>A)
c.346-31C>A (n.346-31C>A)
n.504-31C>A
 gnomAD v4
2g.71511776C>TCA2576999568DYSFc.343-31C>T (n.343-31C>T)
c.346-31C>T (n.346-31C>T)
n.504-31C>T
 gnomAD v4
2g.71511778A=CA1260076329DYSFc.343-29A= (n.343-29A=)
c.346-29A= (n.346-29A=)
n.504-29A=
2g.71511778A>CCA2581778160DYSFc.343-29A>C (n.343-29A>C)
c.346-29A>C (n.346-29A>C)
n.504-29A>C
2g.71511778A>GCA1705335DYSFc.343-29A>G (n.343-29A>G)
c.346-29A>G (n.346-29A>G)
n.504-29A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511778A>TCA2576999574DYSFc.343-29A>T (n.343-29A>T)
c.346-29A>T (n.346-29A>T)
n.504-29A>T
 gnomAD v4
2g.71511779C>ACA2576999578DYSFc.343-28C>A (n.343-28C>A)
c.346-28C>A (n.346-28C>A)
n.504-28C>A
 gnomAD v4
2g.71511779C=CA1260076330DYSFc.343-28C= (n.343-28C=)
c.346-28C= (n.346-28C=)
n.504-28C=
2g.71511779C>TCA533252886DYSFc.343-28C>T (n.343-28C>T)
c.346-28C>T (n.346-28C>T)
n.504-28C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511780C>ACA2659543448DYSFc.343-27C>A (n.343-27C>A)
c.346-27C>A (n.346-27C>A)
n.504-27C>A
 gnomAD v4
2g.71511780C=CA1260076331DYSFc.343-27C= (n.343-27C=)
c.346-27C= (n.346-27C=)
n.504-27C=
2g.71511780C>GCA533252887DYSFc.343-27C>G (n.343-27C>G)
c.346-27C>G (n.346-27C>G)
n.504-27C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511780C>TCA49756275DYSFc.343-27C>T (n.343-27C>T)
c.346-27C>T (n.346-27C>T)
n.504-27C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511781T>CCA2576999580DYSFc.343-26T>C (n.343-26T>C)
c.346-26T>C (n.346-26T>C)
n.504-26T>C
 gnomAD v4
2g.71511783T>CCA2659543449DYSFc.343-24T>C (n.343-24T>C)
c.346-24T>C (n.346-24T>C)
n.504-24T>C
 gnomAD v4
2g.71511783T=CA1260076332DYSFc.343-24T= (n.343-24T=)
c.346-24T= (n.346-24T=)
n.504-24T=
2g.71511784C>ACA2576999584DYSFc.343-23C>A (n.343-23C>A)
c.346-23C>A (n.346-23C>A)
n.504-23C>A
 gnomAD v4
2g.71511788dupCA533252889DYSFc.343-19dup (n.343-19dup)
c.346-19dup (n.346-19dup)
n.504-19dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511788delCA2576999583DYSFc.343-19del (n.343-19del)
c.346-19del (n.346-19del)
n.504-19del
 gnomAD v4
2g.71511785C>ACA2659543450DYSFc.343-22C>A (n.343-22C>A)
c.346-22C>A (n.346-22C>A)
n.504-22C>A
 gnomAD v4
2g.71511785C=CA1260076333DYSFc.343-22C= (n.343-22C=)
c.346-22C= (n.346-22C=)
n.504-22C=
2g.71511785C>GCA533252892DYSFc.343-22C>G (n.343-22C>G)
c.346-22C>G (n.346-22C>G)
n.504-22C>G
 dbSNP gnomAD v2 gnomAD v4
2g.71511785C>TCA1705336DYSFc.343-22C>T (n.343-22C>T)
c.346-22C>T (n.346-22C>T)
n.504-22C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71511786C>ACA2750413696DYSFc.343-21C>A (n.343-21C>A)
c.346-21C>A (n.346-21C>A)
n.504-21C>A
2g.71511787C>ACA2659543451DYSFc.343-20C>A (n.343-20C>A)
c.346-20C>A (n.346-20C>A)
n.504-20C>A
 gnomAD v4
2g.71511788C>ACA533252894DYSFc.343-19C>A (n.343-19C>A)
c.346-19C>A (n.346-19C>A)
n.504-19C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71511788C=CA1260076334DYSFc.343-19C= (n.343-19C=)
c.346-19C= (n.346-19C=)
n.504-19C=
2g.71511788C>GCA2659543452DYSFc.343-19C>G (n.343-19C>G)
c.346-19C>G (n.346-19C>G)
n.504-19C>G
 gnomAD v4
2g.71511788C>TCA1260076335DYSFc.343-19C>T (n.343-19C>T)
c.346-19C>T (n.346-19C>T)
n.504-19C>T
 dbSNP gnomAD v4
2g.71511789A=CA1260076336DYSFc.343-18A= (n.343-18A=)
c.346-18A= (n.346-18A=)
n.504-18A=
2g.71511789A>GCA533252896DYSFc.343-18A>G (n.343-18A>G)
c.346-18A>G (n.346-18A>G)
n.504-18A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511790C>ACA2659543453DYSFc.343-17C>A (n.343-17C>A)
c.346-17C>A (n.346-17C>A)
n.504-17C>A
 gnomAD v4
2g.71511790C=CA1260076337DYSFc.343-17C= (n.343-17C=)
c.346-17C= (n.346-17C=)
n.504-17C=
2g.71511790C>GCA1032079744DYSFc.343-17C>G (n.343-17C>G)
c.346-17C>G (n.346-17C>G)
n.504-17C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71511790C>TCA222155DYSFc.343-17C>T (n.343-17C>T)
c.346-17C>T (n.346-17C>T)
n.504-17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511791G>ACA1705337DYSFc.343-16G>A (n.343-16G>A)
c.346-16G>A (n.346-16G>A)
n.504-16G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511791G=CA1260076338DYSFc.343-16G= (n.343-16G=)
c.346-16G= (n.346-16G=)
n.504-16G=
2g.71511793C>ACA2659543454DYSFc.343-14C>A (n.343-14C>A)
c.346-14C>A (n.346-14C>A)
n.504-14C>A
 gnomAD v4
2g.71511793C=CA1260076339DYSFc.343-14C= (n.343-14C=)
c.346-14C= (n.346-14C=)
n.504-14C=
2g.71511793C>GCA2576999590DYSFc.343-14C>G (n.343-14C>G)
c.346-14C>G (n.346-14C>G)
n.504-14C>G
2g.71511793C>TCA49756301DYSFc.343-14C>T (n.343-14C>T)
c.346-14C>T (n.346-14C>T)
n.504-14C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511794T>CCA2659543455DYSFc.343-13T>C (n.343-13T>C)
c.346-13T>C (n.346-13T>C)
n.504-13T>C
 gnomAD v4
2g.71511795C>ACA2659543456DYSFc.343-12C>A (n.343-12C>A)
c.346-12C>A (n.346-12C>A)
n.504-12C>A
 gnomAD v4
2g.71511795C=CA1260076340DYSFc.343-12C= (n.343-12C=)
c.346-12C= (n.346-12C=)
n.504-12C=
2g.71511795C>TCA533252902DYSFc.343-12C>T (n.343-12C>T)
c.346-12C>T (n.346-12C>T)
n.504-12C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511796A>TCA2659543457DYSFc.343-11A>T (n.343-11A>T)
c.346-11A>T (n.346-11A>T)
n.504-11A>T
 gnomAD v4
2g.71511797T>CCA2580067755DYSFc.343-10T>C (n.343-10T>C)
c.346-10T>C (n.346-10T>C)
n.504-10T>C
 ClinVar
2g.71511798C>ACA2659543458DYSFc.343-9C>A (n.343-9C>A)
c.346-9C>A (n.346-9C>A)
n.504-9C>A
 gnomAD v4
2g.71511799T>GCA2514198722DYSFc.343-8T>G (n.343-8T>G)
c.346-8T>G (n.346-8T>G)
n.504-8T>G
 ClinVar
2g.71511800C>ACA2659543459DYSFc.343-7C>A (n.343-7C>A)
c.346-7C>A (n.346-7C>A)
n.504-7C>A
 gnomAD v4
2g.71511800C=CA1260076341DYSFc.343-7C= (n.343-7C=)
c.346-7C= (n.346-7C=)
n.504-7C=
2g.71511800C>GCA49756308DYSFc.343-7C>G (n.343-7C>G)
c.346-7C>G (n.346-7C>G)
n.504-7C>G
 ClinVar dbSNP
2g.71511802T>ACA2659543460DYSFc.343-5T>A (n.343-5T>A)
c.346-5T>A (n.346-5T>A)
n.504-5T>A
 gnomAD v4
2g.71511803C>ACA2576999598DYSFc.343-4C>A (n.343-4C>A)
c.346-4C>A (n.346-4C>A)
n.504-4C>A
2g.71511803C>TCA2659543462DYSFc.343-4C>T (n.343-4C>T)
c.346-4C>T (n.346-4C>T)
n.504-4C>T
 gnomAD v4
2g.71511803_71511804delCA2576999597DYSFc.343-4_343-3del (n.343-4_343-3del)
c.346-4_346-3del (n.346-4_346-3del)
n.504-4_504-3del
2g.71511804delCA2659543461DYSFc.343-3del (n.343-3del)
c.346-3del (n.346-3del)
n.504-3del
 gnomAD v4
2g.71511804C=CA1260076342DYSFc.343-3C= (n.343-3C=)
c.346-3C= (n.346-3C=)
n.504-3C=
2g.71511804C>GCA533252904DYSFc.343-3C>G (n.343-3C>G)
c.346-3C>G (n.346-3C>G)
n.504-3C>G
 dbSNP gnomAD v2
2g.71511804C>TCA2659543463DYSFc.343-3C>T (n.343-3C>T)
c.346-3C>T (n.346-3C>T)
n.504-3C>T
 gnomAD v4
2g.71511805A>CCA347205366DYSFc.343-2A>C (n.343-2A>C)
c.346-2A>C (n.346-2A>C)
n.504-2A>C
 ClinVar
2g.71511805A>GCA347205367DYSFc.343-2A>G (n.343-2A>G)
c.346-2A>G (n.346-2A>G)
n.504-2A>G
 gnomAD v4
2g.71511805A>TCA347205368DYSFc.343-2A>T (n.343-2A>T)
c.346-2A>T (n.346-2A>T)
n.504-2A>T
 dbSNP
2g.71511806G>ACA347205369DYSFc.343-1G>A (n.343-1G>A)
c.346-1G>A (n.346-1G>A)
n.504-1G>A
2g.71511806G>CCA347205370DYSFc.343-1G>C (n.343-1G>C)
c.346-1G>C (n.346-1G>C)
n.504-1G>C
2g.71511806G>TCA347205371DYSFc.343-1G>T (n.343-1G>T)
c.346-1G>T (n.346-1G>T)
n.504-1G>T
 gnomAD v4
2g.71511807G>ACA49756314DYSFc.343G>A (p.Ala115Thr)
c.346G>A (p.Ala116Thr)
n.504G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511807G>CCA347205372DYSFc.343G>C (p.Ala115Pro)
c.346G>C (p.Ala116Pro)
n.504G>C
2g.71511807G=CA1260076343DYSFc.343G= (p.Ala115=)
c.346G= (p.Ala116=)
n.504G=
2g.71511807G>TCA347205373DYSFc.343G>T (p.Ala115Ser)
c.346G>T (p.Ala116Ser)
n.504G>T
 gnomAD v4
2g.71511808C>ACA347205374DYSFc.344C>A (p.Ala115Asp)
c.347C>A (p.Ala116Asp)
n.505C>A
 gnomAD v4
2g.71511808C=CA1260076344DYSFc.344C= (p.Ala115=)
c.347C= (p.Ala116=)
n.505C=
2g.71511808C>GCA347205375DYSFc.344C>G (p.Ala115Gly)
c.347C>G (p.Ala116Gly)
n.505C>G
 gnomAD v4
2g.71511808C>TCA347205376DYSFc.344C>T (p.Ala115Val)
c.347C>T (p.Ala116Val)
n.505C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511809C>ACA426697083DYSFc.345C>A (p.Ala115=)
c.348C>A (p.Ala116=)
n.506C>A
2g.71511809C>GCA426697084DYSFc.345C>G (p.Ala115=)
c.348C>G (p.Ala116=)
n.506C>G
2g.71511809C>TCA426697088DYSFc.345C>T (p.Ala115=)
c.348C>T (p.Ala116=)
n.506C>T
2g.71511811_71511814dupCA2586964932DYSFc.347_350dup (p.Val118AlafsTer31)
c.350_353dup (p.Val119AlafsTer31)
n.508_511dup
2g.71511810T>ACA347205377DYSFc.346T>A (p.Ser116Thr)
c.349T>A (p.Ser117Thr)
n.507T>A
2g.71511810T>CCA347205379DYSFc.346T>C (p.Ser116Pro)
c.349T>C (p.Ser117Pro)
n.507T>C
2g.71511810T>GCA347205378DYSFc.346T>G (p.Ser116Ala)
c.349T>G (p.Ser117Ala)
n.507T>G
2g.71511811C>ACA347205380DYSFc.347C>A (p.Ser116Ter)
c.350C>A (p.Ser117Ter)
n.508C>A
 gnomAD v4
2g.71511811C=CA1260076345DYSFc.347C= (p.Ser116=)
c.350C= (p.Ser117=)
n.508C=
2g.71511811C>GCA347205381DYSFc.347C>G (p.Ser116Trp)
c.350C>G (p.Ser117Trp)
n.508C>G
 COSMIC COSMIC
2g.71511811C>TCA1705338DYSFc.347C>T (p.Ser116Leu)
c.350C>T (p.Ser117Leu)
n.508C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71511812G>ACA49756364DYSFc.348G>A (p.Ser116=)
c.351G>A (p.Ser117=)
n.509G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71511812G>CCA426697110DYSFc.348G>C (p.Ser116=)
c.351G>C (p.Ser117=)
n.509G>C
2g.71511812G=CA1260076346DYSFc.348G= (p.Ser116=)
c.351G= (p.Ser117=)
n.509G=
2g.71511812G>TCA426697111DYSFc.348G>T (p.Ser116=)
c.351G>T (p.Ser117=)
n.509G>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511813C>ACA347205383DYSFc.349C>A (p.Leu117Met)
c.352C>A (p.Leu118Met)
n.510C>A
 dbSNP gnomAD v4
2g.71511813C=CA1260076347DYSFc.349C= (p.Leu117=)
c.352C= (p.Leu118=)
n.510C=
2g.71511813C>GCA347205382DYSFc.349C>G (p.Leu117Val)
c.352C>G (p.Leu118Val)
n.510C>G
2g.71511813C>TCA426697112DYSFc.349C>T (p.Leu117=)
c.352C>T (p.Leu118=)
n.510C>T
2g.71511814T>ACA347205386DYSFc.350T>A (p.Leu117Gln)
c.353T>A (p.Leu118Gln)
n.511T>A
2g.71511814T>CCA347205384DYSFc.350T>C (p.Leu117Pro)
c.353T>C (p.Leu118Pro)
n.511T>C
 gnomAD v4
2g.71511814T>GCA347205385DYSFc.350T>G (p.Leu117Arg)
c.353T>G (p.Leu118Arg)
n.511T>G
2g.71511815G>ACA426697118DYSFc.351G>A (p.Leu117=)
c.354G>A (p.Leu118=)
n.512G>A
 ClinVar
2g.71511815G>CCA426697120DYSFc.351G>C (p.Leu117=)
c.354G>C (p.Leu118=)
n.512G>C
2g.71511815G=CA1260076348DYSFc.351G= (p.Leu117=)
c.354G= (p.Leu118=)
n.512G=
2g.71511815G>TCA426697121DYSFc.351G>T (p.Leu117=)
c.354G>T (p.Leu118=)
n.512G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71511816delCA2576999607DYSFc.352del (p.Val118SerfsTer?)
c.355del (p.Val119SerfsTer?)
n.513del
2g.71511816G>ACA347205387DYSFc.352G>A (p.Val118Ile)
c.355G>A (p.Val119Ile)
n.513G>A
 gnomAD v4
2g.71511816G>CCA347205388DYSFc.352G>C (p.Val118Leu)
c.355G>C (p.Val119Leu)
n.513G>C
 COSMIC COSMIC
2g.71511816G>TCA347205389DYSFc.352G>T (p.Val118Phe)
c.355G>T (p.Val119Phe)
n.513G>T
2g.71511816_71511817delinsGTCA1260076349DYSFc.352_353delinsGT (p.Val118=)
c.355_356delinsGT (p.Val119=)
n.513_514delinsGT
2g.71511817delCA222158DYSFc.353del (p.Val118AlafsTer?)
c.356del (p.Val119AlafsTer?)
n.514del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511817T>ACA347205390DYSFc.353T>A (p.Val118Asp)
c.356T>A (p.Val119Asp)
n.514T>A
 dbSNP gnomAD v4
2g.71511817T>CCA347205391DYSFc.353T>C (p.Val118Ala)
c.356T>C (p.Val119Ala)
n.514T>C
2g.71511817T>GCA347205392DYSFc.353T>G (p.Val118Gly)
c.356T>G (p.Val119Gly)
n.514T>G
2g.71511817T=CA1260076350DYSFc.353T= (p.Val118=)
c.356T= (p.Val119=)
n.514T=
2g.71511818C>ACA426697135DYSFc.354C>A (p.Val118=)
c.357C>A (p.Val119=)
n.515C>A
 ClinVar
2g.71511818C=CA1260076351DYSFc.354C= (p.Val118=)
c.357C= (p.Val119=)
n.515C=
2g.71511818C>GCA426697137DYSFc.354C>G (p.Val118=)
c.357C>G (p.Val119=)
n.515C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71511818C>TCA426697140DYSFc.354C>T (p.Val118=)
c.357C>T (p.Val119=)
n.515C>T
2g.71511819C>ACA347205393DYSFc.355C>A (p.Leu119Met)
c.358C>A (p.Leu120Met)
n.516C>A
 gnomAD v4
2g.71511819C=CA1260076352DYSFc.355C= (p.Leu119=)
c.358C= (p.Leu120=)
n.516C=
2g.71511819C>GCA347205394DYSFc.355C>G (p.Leu119Val)
c.358C>G (p.Leu120Val)
n.516C>G
2g.71511819C>TCA49756386DYSFc.355C>T (p.Leu119=)
c.358C>T (p.Leu120=)
n.516C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511820T>ACA347205397DYSFc.356T>A (p.Leu119Gln)
c.359T>A (p.Leu120Gln)
n.517T>A
2g.71511820T>CCA347205395DYSFc.356T>C (p.Leu119Pro)
c.359T>C (p.Leu120Pro)
n.517T>C
 ClinVar gnomAD v4
2g.71511820T>GCA347205396DYSFc.356T>G (p.Leu119Arg)
c.359T>G (p.Leu120Arg)
n.517T>G
2g.71511821G>ACA426697167DYSFc.357G>A (p.Leu119=)
c.360G>A (p.Leu120=)
n.518G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511821G>CCA426697169DYSFc.357G>C (p.Leu119=)
c.360G>C (p.Leu120=)
n.518G>C
2g.71511821G=CA1260076353DYSFc.357G= (p.Leu119=)
c.360G= (p.Leu120=)
n.518G=
2g.71511821G>TCA426697174DYSFc.357G>T (p.Leu119=)
c.360G>T (p.Leu120=)
n.518G>T
 gnomAD v4
2g.71511822C>ACA347205398DYSFc.358C>A (p.Gln120Lys)
c.361C>A (p.Gln121Lys)
n.519C>A
 gnomAD v4
2g.71511822C=CA1260076354DYSFc.358C= (p.Gln120=)
c.361C= (p.Gln121=)
n.519C=
2g.71511822C>GCA347205399DYSFc.358C>G (p.Gln120Glu)
c.361C>G (p.Gln121Glu)
n.519C>G
2g.71511822C>TCA347205400DYSFc.358C>T (p.Gln120Ter)
c.361C>T (p.Gln121Ter)
n.519C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71511823A=CA1260076355DYSFc.359A= (p.Gln120=)
c.362A= (p.Gln121=)
n.520A=
2g.71511823A>CCA347205401DYSFc.359A>C (p.Gln120Pro)
c.362A>C (p.Gln121Pro)
n.520A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71511823A>GCA347205402DYSFc.359A>G (p.Gln120Arg)
c.362A>G (p.Gln121Arg)
n.520A>G
 gnomAD v4
2g.71511823A>TCA347205403DYSFc.359A>T (p.Gln120Leu)
c.362A>T (p.Gln121Leu)
n.520A>T
 gnomAD v4
2g.71511824G>ACA426697188DYSFc.360G>A (p.Gln120=)
c.363G>A (p.Gln121=)
n.521G>A
2g.71511824G>CCA347205404DYSFc.360G>C (p.Gln120His)
c.363G>C (p.Gln121His)
n.521G>C
2g.71511824G>TCA347205405DYSFc.360G>T (p.Gln120His)
c.363G>T (p.Gln121His)
n.521G>T
 gnomAD v4
2g.71511825G>ACA347205406DYSFc.361G>A (p.Val121Met)
c.364G>A (p.Val122Met)
n.522G>A
2g.71511825G>CCA347205407DYSFc.361G>C (p.Val121Leu)
c.364G>C (p.Val122Leu)
n.522G>C
2g.71511825G>TCA347205408DYSFc.361G>T (p.Val121Leu)
c.364G>T (p.Val122Leu)
n.522G>T
 gnomAD v4
2g.71511826T>ACA347205410DYSFc.362T>A (p.Val121Glu)
c.365T>A (p.Val122Glu)
n.523T>A
2g.71511826T>CCA347205411DYSFc.362T>C (p.Val121Ala)
c.365T>C (p.Val122Ala)
n.523T>C
2g.71511826T>GCA347205409DYSFc.362T>G (p.Val121Gly)
c.365T>G (p.Val122Gly)
n.523T>G
2g.71511827G>ACA426697206DYSFc.363G>A (p.Val121=)
c.366G>A (p.Val122=)
n.524G>A
2g.71511827G>CCA426697207DYSFc.363G>C (p.Val121=)
c.366G>C (p.Val122=)
n.524G>C
2g.71511827G>TCA426697210DYSFc.363G>T (p.Val121=)
c.366G>T (p.Val122=)
n.524G>T
2g.71511828T>ACA347205412DYSFc.364T>A (p.Ser122Thr)
c.367T>A (p.Ser123Thr)
n.525T>A
2g.71511828T>CCA347205413DYSFc.364T>C (p.Ser122Pro)
c.367T>C (p.Ser123Pro)
n.525T>C
 gnomAD v4
2g.71511828T>GCA347205414DYSFc.364T>G (p.Ser122Ala)
c.367T>G (p.Ser123Ala)
n.525T>G
2g.71511829C>ACA347205415DYSFc.365C>A (p.Ser122Tyr)
c.368C>A (p.Ser123Tyr)
n.526C>A
 gnomAD v4
2g.71511829C=CA1260076356DYSFc.365C= (p.Ser122=)
c.368C= (p.Ser123=)
n.526C=
2g.71511829C>GCA347205416DYSFc.365C>G (p.Ser122Cys)
c.368C>G (p.Ser123Cys)
n.526C>G
2g.71511829C>TCA1705339DYSFc.365C>T (p.Ser122Phe)
c.368C>T (p.Ser123Phe)
n.526C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71511830C>ACA426697247DYSFc.366C>A (p.Ser122=)
c.369C>A (p.Ser123=)
n.527C>A
2g.71511830C>GCA426697250DYSFc.366C>G (p.Ser122=)
c.369C>G (p.Ser123=)
n.527C>G
 ClinVar gnomAD v4
2g.71511830C>TCA426697253DYSFc.366C>T (p.Ser122=)
c.369C>T (p.Ser123=)
n.527C>T
2g.71511831T>ACA347205417DYSFc.367T>A (p.Tyr123Asn)
c.370T>A (p.Tyr124Asn)
n.528T>A
2g.71511831T>CCA347205418DYSFc.367T>C (p.Tyr123His)
c.370T>C (p.Tyr124His)
n.528T>C
 gnomAD v4
2g.71511831T>GCA347205419DYSFc.367T>G (p.Tyr123Asp)
c.370T>G (p.Tyr124Asp)
n.528T>G
2g.71511832A>CCA347205420DYSFc.368A>C (p.Tyr123Ser)
c.371A>C (p.Tyr124Ser)
n.529A>C
 gnomAD v4
2g.71511832A>GCA347205421DYSFc.368A>G (p.Tyr123Cys)
c.371A>G (p.Tyr124Cys)
n.529A>G
2g.71511832A>TCA347205422DYSFc.368A>T (p.Tyr123Phe)
c.371A>T (p.Tyr124Phe)
n.529A>T
2g.71511833C>ACA347205424DYSFc.369C>A (p.Tyr123Ter)
c.372C>A (p.Tyr124Ter)
n.530C>A
 gnomAD v4
2g.71511833C>GCA347205423DYSFc.369C>G (p.Tyr123Ter)
c.372C>G (p.Tyr124Ter)
n.530C>G
 gnomAD v4
2g.71511833C>TCA426697271DYSFc.369C>T (p.Tyr123=)
c.372C>T (p.Tyr124=)
n.530C>T
2g.71511834A=CA1260076357DYSFc.370A= (p.Thr124=)
c.373A= (p.Thr125=)
n.531A=
2g.71511834A>CCA347205425DYSFc.370A>C (p.Thr124Pro)
c.373A>C (p.Thr125Pro)
n.531A>C
 gnomAD v4
2g.71511834A>GCA10613906DYSFc.370A>G (p.Thr124Ala)
c.373A>G (p.Thr125Ala)
n.531A>G
 ClinVar dbSNP
2g.71511834A>TCA347205426DYSFc.370A>T (p.Thr124Ser)
c.373A>T (p.Thr125Ser)
n.531A>T
2g.71511835C>ACA347205427DYSFc.371C>A (p.Thr124Lys)
c.374C>A (p.Thr125Lys)
n.532C>A
 gnomAD v4
2g.71511835C>GCA347205428DYSFc.371C>G (p.Thr124Arg)
c.374C>G (p.Thr125Arg)
n.532C>G
2g.71511835C>TCA347205429DYSFc.371C>T (p.Thr124Ile)
c.374C>T (p.Thr125Ile)
n.532C>T
 gnomAD v4
2g.71511836A>CCA426697294DYSFc.372A>C (p.Thr124=)
c.375A>C (p.Thr125=)
n.533A>C
2g.71511836A>GCA426697298DYSFc.372A>G (p.Thr124=)
c.375A>G (p.Thr125=)
n.533A>G
 gnomAD v4
2g.71511836A>TCA426697299DYSFc.372A>T (p.Thr124=)
c.375A>T (p.Thr125=)
n.533A>T
 ClinVar
2g.71511837C>ACA347205430DYSFc.373C>A (p.Pro125Thr)
c.376C>A (p.Pro126Thr)
n.534C>A
2g.71511837C>GCA347205431DYSFc.373C>G (p.Pro125Ala)
c.376C>G (p.Pro126Ala)
n.534C>G
 gnomAD v4
2g.71511837C>TCA347205432DYSFc.373C>T (p.Pro125Ser)
c.376C>T (p.Pro126Ser)
n.534C>T
2g.71511838C>ACA347205433DYSFc.374C>A (p.Pro125Gln)
c.377C>A (p.Pro126Gln)
n.535C>A
 gnomAD v4
2g.71511838C=CA1260076358DYSFc.374C= (p.Pro125=)
c.377C= (p.Pro126=)
n.535C=
2g.71511838C>GCA347205434DYSFc.374C>G (p.Pro125Arg)
c.377C>G (p.Pro126Arg)
n.535C>G
2g.71511838C>TCA1705340DYSFc.374C>T (p.Pro125Leu)
c.377C>T (p.Pro126Leu)
n.535C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511839G>ACA1705341DYSFc.375G>A (p.Pro125=)
c.378G>A (p.Pro126=)
n.536G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511839G>CCA426697330DYSFc.375G>C (p.Pro125=)
c.378G>C (p.Pro126=)
n.536G>C
 gnomAD v4
2g.71511839G=CA1260076359DYSFc.375G= (p.Pro125=)
c.378G= (p.Pro126=)
n.536G=
2g.71511839G>TCA1705342DYSFc.375G>T (p.Pro125=)
c.378G>T (p.Pro126=)
n.536G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511840C>ACA347205435DYSFc.376C>A (p.Leu126Met)
c.379C>A (p.Leu127Met)
n.537C>A
2g.71511840C>GCA347205436DYSFc.376C>G (p.Leu126Val)
c.379C>G (p.Leu127Val)
n.537C>G
2g.71511840C>TCA426697343DYSFc.376C>T (p.Leu126=)
c.379C>T (p.Leu127=)
n.537C>T
2g.71511841T>ACA347205437DYSFc.377T>A (p.Leu126Gln)
c.380T>A (p.Leu127Gln)
n.538T>A
2g.71511841T>CCA347205439DYSFc.377T>C (p.Leu126Pro)
c.380T>C (p.Leu127Pro)
n.538T>C
 gnomAD v4
2g.71511841T>GCA347205438DYSFc.377T>G (p.Leu126Arg)
c.380T>G (p.Leu127Arg)
n.538T>G
2g.71511842G>ACA426697353DYSFc.378G>A (p.Leu126=)
c.381G>A (p.Leu127=)
n.539G>A
 ClinVar
2g.71511842G>CCA426697354DYSFc.378G>C (p.Leu126=)
c.381G>C (p.Leu127=)
n.539G>C
2g.71511842G>TCA426697355DYSFc.378G>T (p.Leu126=)
c.381G>T (p.Leu127=)
n.539G>T
 gnomAD v4
2g.71511843C>ACA347205440DYSFc.379C>A (p.Pro127Thr)
c.382C>A (p.Pro128Thr)
n.540C>A
 gnomAD v4
2g.71511843C=CA1260076360DYSFc.379C= (p.Pro127=)
c.382C= (p.Pro128=)
n.540C=
2g.71511843C>GCA347205441DYSFc.379C>G (p.Pro127Ala)
c.382C>G (p.Pro128Ala)
n.540C>G
2g.71511843C>TCA347205442DYSFc.379C>T (p.Pro127Ser)
c.382C>T (p.Pro128Ser)
n.540C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511844C>ACA347205443DYSFc.380C>A (p.Pro127His)
c.383C>A (p.Pro128His)
n.541C>A
 gnomAD v4
2g.71511844C=CA1260076361DYSFc.380C= (p.Pro127=)
c.383C= (p.Pro128=)
n.541C=
2g.71511844C>GCA347205444DYSFc.380C>G (p.Pro127Arg)
c.383C>G (p.Pro128Arg)
n.541C>G
 gnomAD v4
2g.71511844C>TCA347205445DYSFc.380C>T (p.Pro127Leu)
c.383C>T (p.Pro128Leu)
n.541C>T
 dbSNP gnomAD v4
2g.71511845T>ACA426697369DYSFc.381T>A (p.Pro127=)
c.384T>A (p.Pro128=)
n.542T>A
2g.71511845T>CCA426697370DYSFc.381T>C (p.Pro127=)
c.384T>C (p.Pro128=)
n.542T>C
 gnomAD v4
2g.71511845T>GCA426697374DYSFc.381T>G (p.Pro127=)
c.384T>G (p.Pro128=)
n.542T>G
2g.71511846G>ACA347205446DYSFc.382G>A (p.Gly128Arg)
c.385G>A (p.Gly129Arg)
n.543G>A
2g.71511846G>CCA347205447DYSFc.382G>C (p.Gly128Arg)
c.385G>C (p.Gly129Arg)
n.543G>C
2g.71511846G>TCA347205448DYSFc.382G>T (p.Gly128Ter)
c.385G>T (p.Gly129Ter)
n.543G>T
2g.71511847G>ACA147747DYSFc.383G>A (p.Gly128Glu)
c.386G>A (p.Gly129Glu)
n.544G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511847G>CCA347205449DYSFc.383G>C (p.Gly128Ala)
c.386G>C (p.Gly129Ala)
n.544G>C
2g.71511847G=CA1260076362DYSFc.383G= (p.Gly128=)
c.386G= (p.Gly129=)
n.544G=
2g.71511847G>TCA347205450DYSFc.383G>T (p.Gly128Val)
c.386G>T (p.Gly129Val)
n.544G>T
 gnomAD v4
2g.71511848A=CA1260076363DYSFc.384A= (p.Gly128=)
c.387A= (p.Gly129=)
n.545A=
2g.71511848A>CCA426697406DYSFc.384A>C (p.Gly128=)
c.387A>C (p.Gly129=)
n.545A>C
2g.71511848A>GCA426697410DYSFc.384A>G (p.Gly128=)
c.387A>G (p.Gly129=)
n.545A>G
 dbSNP gnomAD v3 gnomAD v4
2g.71511848A>TCA426697411DYSFc.384A>T (p.Gly128=)
c.387A>T (p.Gly129=)
n.545A>T
 gnomAD v4
2g.71511849G>ACA347205451DYSFc.385G>A (p.Ala129Thr)
c.388G>A (p.Ala130Thr)
n.546G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511849G>CCA347205453DYSFc.385G>C (p.Ala129Pro)
c.388G>C (p.Ala130Pro)
n.546G>C
 gnomAD v4
2g.71511849G=CA1260076364DYSFc.385G= (p.Ala129=)
c.388G= (p.Ala130=)
n.546G=
2g.71511849G>TCA347205452DYSFc.385G>T (p.Ala129Ser)
c.388G>T (p.Ala130Ser)
n.546G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511850delCA2739274508DYSFc.386del (p.Ala129ValfsTer22)
c.389del (p.Ala130ValfsTer22)
n.547del
 ClinVar
2g.71511850C>ACA347205454DYSFc.386C>A (p.Ala129Asp)
c.389C>A (p.Ala130Asp)
n.547C>A
 gnomAD v4
2g.71511850C=CA1260076365DYSFc.386C= (p.Ala129=)
c.389C= (p.Ala130=)
n.547C=
2g.71511850C>GCA347205455DYSFc.386C>G (p.Ala129Gly)
c.389C>G (p.Ala130Gly)
n.547C>G
 gnomAD v4
2g.71511850C>TCA347205456DYSFc.386C>T (p.Ala129Val)
c.389C>T (p.Ala130Val)
n.547C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511851T>ACA426697421DYSFc.387T>A (p.Ala129=)
c.390T>A (p.Ala130=)
n.548T>A
 gnomAD v4
2g.71511851T>CCA426697422DYSFc.387T>C (p.Ala129=)
c.390T>C (p.Ala130=)
n.548T>C
 gnomAD v4
2g.71511851T>GCA426697423DYSFc.387T>G (p.Ala129=)
c.390T>G (p.Ala130=)
n.548T>G
2g.71511852G>ACA347205457DYSFc.388G>A (p.Val130Met)
c.391G>A (p.Val131Met)
n.549G>A
 gnomAD v4
2g.71511852G>CCA347205458DYSFc.388G>C (p.Val130Leu)
c.391G>C (p.Val131Leu)
n.549G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511852G=CA1260076366DYSFc.388G= (p.Val130=)
c.391G= (p.Val131=)
n.549G=
2g.71511852G>TCA347205459DYSFc.388G>T (p.Val130Leu)
c.391G>T (p.Val131Leu)
n.549G>T
2g.71511853T>ACA347205460DYSFc.389T>A (p.Val130Glu)
c.392T>A (p.Val131Glu)
n.550T>A
2g.71511853T>CCA347205461DYSFc.389T>C (p.Val130Ala)
c.392T>C (p.Val131Ala)
n.550T>C
 gnomAD v4
2g.71511853T>GCA347205462DYSFc.389T>G (p.Val130Gly)
c.392T>G (p.Val131Gly)
n.550T>G
2g.71511854G>ACA426697442DYSFc.390G>A (p.Val130=)
c.393G>A (p.Val131=)
n.551G>A
 gnomAD v4
2g.71511854G>CCA426697447DYSFc.390G>C (p.Val130=)
c.393G>C (p.Val131=)
n.551G>C
2g.71511854G>TCA426697444DYSFc.390G>T (p.Val130=)
c.393G>T (p.Val131=)
n.551G>T
 gnomAD v4 COSMIC COSMIC
2g.71511854_71511856delinsGCCCA1260076367DYSFc.390_392delinsGCC (p.Val130=)
c.393_395delinsGCC (p.Val131=)
n.551_553delinsGCC
2g.71511855C>ACA347205464DYSFc.391C>A (p.Pro131Thr)
c.394C>A (p.Pro132Thr)
n.552C>A
 dbSNP gnomAD v2 gnomAD v4
2g.71511855C=CA1260076368DYSFc.391C= (p.Pro131=)
c.394C= (p.Pro132=)
n.552C=
2g.71511855C>GCA347205465DYSFc.391C>G (p.Pro131Ala)
c.394C>G (p.Pro132Ala)
n.552C>G
2g.71511855C>TCA347205463DYSFc.391C>T (p.Pro131Ser)
c.394C>T (p.Pro132Ser)
n.552C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71511857_71511858delCA222160DYSFc.393_394del (p.Leu132ValfsTer15)
c.396_397del (p.Leu133ValfsTer15)
n.554_555del
 ClinVar dbSNP
2g.71511856C>ACA347205466DYSFc.392C>A (p.Pro131His)
c.395C>A (p.Pro132His)
n.553C>A
 gnomAD v4
2g.71511856C=CA1260076369DYSFc.392C= (p.Pro131=)
c.395C= (p.Pro132=)
n.553C=
2g.71511856C>GCA1705343DYSFc.392C>G (p.Pro131Arg)
c.395C>G (p.Pro132Arg)
n.553C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511856C>TCA347205467DYSFc.392C>T (p.Pro131Leu)
c.395C>T (p.Pro132Leu)
n.553C>T
 gnomAD v4
2g.71511857C>ACA426697474DYSFc.393C>A (p.Pro131=)
c.396C>A (p.Pro132=)
n.554C>A
2g.71511857C=CA1260076370DYSFc.393C= (p.Pro131=)
c.396C= (p.Pro132=)
n.554C=
2g.71511857C>GCA426697478DYSFc.393C>G (p.Pro131=)
c.396C>G (p.Pro132=)
n.554C>G
2g.71511857C>TCA147749DYSFc.393C>T (p.Pro131=)
c.396C>T (p.Pro132=)
n.554C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71511858C>ACA347205469DYSFc.394C>A (p.Leu132Met)
c.397C>A (p.Leu133Met)
n.555C>A
 gnomAD v4
2g.71511858C=CA1260076371DYSFc.394C= (p.Leu132=)
c.397C= (p.Leu133=)
n.555C=
2g.71511858C>GCA347205468DYSFc.394C>G (p.Leu132Val)
c.397C>G (p.Leu133Val)
n.555C>G
2g.71511858C>TCA10604985DYSFc.394C>T (p.Leu132=)
c.397C>T (p.Leu133=)
n.555C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71511859T>ACA347205470DYSFc.395T>A (p.Leu132Gln)
c.398T>A (p.Leu133Gln)
n.556T>A
 gnomAD v4
2g.71511859T>CCA347205471DYSFc.395T>C (p.Leu132Pro)
c.398T>C (p.Leu133Pro)
n.556T>C
 gnomAD v4
2g.71511859T>GCA347205472DYSFc.395T>G (p.Leu132Arg)
c.398T>G (p.Leu133Arg)
n.556T>G

Number of alleles fetched