Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.96144944_96144993delCA2781376649GDF6c.946_995del (p.Pro316AlafsTer?)
c.793+91_793+140del (n.793+91_793+140del)
c.874+72_874+121del (n.874+72_874+121del)
c.547_596del (p.Pro183AlafsTer?)
8g.96144982_96145011delCA2687993690GDF6c.928_957del (p.Glu310_Ala319del)
c.793+73_793+102del (n.793+73_793+102del)
c.874+54_874+83del (n.874+54_874+83del)
c.529_558del (p.Glu177_Ala186del)
 gnomAD v4
8g.96144982_96145017delCA2687993691GDF6c.921_956del (p.Gly308_Ala319del)
c.793+66_793+101del (n.793+66_793+101del)
c.874+47_874+82del (n.874+47_874+82del)
c.522_557del (p.Gly175_Ala186del)
 gnomAD v4
8g.96144985G>ACA371751466GDF6c.946C>T (p.Pro316Ser)
c.793+91C>T (n.793+91C>T)
c.874+72C>T (n.874+72C>T)
c.547C>T (p.Pro183Ser)
 gnomAD v4
8g.96144985G>CCA371751467GDF6c.946C>G (p.Pro316Ala)
c.793+91C>G (n.793+91C>G)
c.874+72C>G (n.874+72C>G)
c.547C>G (p.Pro183Ala)
8g.96144985G=CA1804261477GDF6c.946C= (p.Pro316=)
c.793+91C= (n.793+91C=)
c.874+72C= (n.874+72C=)
c.547C= (p.Pro183=)
8g.96144985G>TCA4815387GDF6c.946C>A (p.Pro316Thr)
c.793+91C>A (n.793+91C>A)
c.874+72C>A (n.874+72C>A)
c.547C>A (p.Pro183Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96144986C>ACA462454638GDF6c.945G>T (p.Pro315=)
c.793+90G>T (n.793+90G>T)
c.874+71G>T (n.874+71G>T)
c.546G>T (p.Pro182=)
 dbSNP gnomAD v2 gnomAD v4
8g.96144986C=CA1804261480GDF6c.945G= (p.Pro315=)
c.793+90G= (n.793+90G=)
c.874+71G= (n.874+71G=)
c.546G= (p.Pro182=)
8g.96144986C>GCA462454640GDF6c.945G>C (p.Pro315=)
c.793+90G>C (n.793+90G>C)
c.874+71G>C (n.874+71G>C)
c.546G>C (p.Pro182=)
8g.96144986C>TCA462454641GDF6c.945G>A (p.Pro315=)
c.793+90G>A (n.793+90G>A)
c.874+71G>A (n.874+71G>A)
c.546G>A (p.Pro182=)
 gnomAD v4
8g.96144987G>ACA371751468GDF6c.944C>T (p.Pro315Leu)
c.793+89C>T (n.793+89C>T)
c.874+70C>T (n.874+70C>T)
c.545C>T (p.Pro182Leu)
 gnomAD v4
8g.96144987G>CCA371751469GDF6c.944C>G (p.Pro315Arg)
c.793+89C>G (n.793+89C>G)
c.874+70C>G (n.874+70C>G)
c.545C>G (p.Pro182Arg)
8g.96144987G>TCA371751470GDF6c.944C>A (p.Pro315Gln)
c.793+89C>A (n.793+89C>A)
c.874+70C>A (n.874+70C>A)
c.545C>A (p.Pro182Gln)
 gnomAD v4
8g.96144988G>ACA371751471GDF6c.943C>T (p.Pro315Ser)
c.793+88C>T (n.793+88C>T)
c.874+69C>T (n.874+69C>T)
c.544C>T (p.Pro182Ser)
 gnomAD v4
8g.96144988G>CCA371751472GDF6c.943C>G (p.Pro315Ala)
c.793+88C>G (n.793+88C>G)
c.874+69C>G (n.874+69C>G)
c.544C>G (p.Pro182Ala)
8g.96144988G>TCA371751473GDF6c.943C>A (p.Pro315Thr)
c.793+88C>A (n.793+88C>A)
c.874+69C>A (n.874+69C>A)
c.544C>A (p.Pro182Thr)
 gnomAD v4
8g.96144989C>ACA462454642GDF6c.942G>T (p.Pro314=)
c.793+87G>T (n.793+87G>T)
c.874+68G>T (n.874+68G>T)
c.543G>T (p.Pro181=)
 gnomAD v4
8g.96144989C>GCA462454643GDF6c.942G>C (p.Pro314=)
c.793+87G>C (n.793+87G>C)
c.874+68G>C (n.874+68G>C)
c.543G>C (p.Pro181=)
8g.96144989C>TCA462454644GDF6c.942G>A (p.Pro314=)
c.793+87G>A (n.793+87G>A)
c.874+68G>A (n.874+68G>A)
c.543G>A (p.Pro181=)
 ClinVar dbSNP gnomAD v4
8g.96144990G>ACA181485029GDF6c.941C>T (p.Pro314Leu)
c.793+86C>T (n.793+86C>T)
c.874+67C>T (n.874+67C>T)
c.542C>T (p.Pro181Leu)
 dbSNP gnomAD v4 COSMIC
8g.96144990G>CCA371751474GDF6c.941C>G (p.Pro314Arg)
c.793+86C>G (n.793+86C>G)
c.874+67C>G (n.874+67C>G)
c.542C>G (p.Pro181Arg)
8g.96144990G=CA1804261481GDF6c.941C= (p.Pro314=)
c.793+86C= (n.793+86C=)
c.874+67C= (n.874+67C=)
c.542C= (p.Pro181=)
8g.96144990G>TCA371751475GDF6c.941C>A (p.Pro314Gln)
c.793+86C>A (n.793+86C>A)
c.874+67C>A (n.874+67C>A)
c.542C>A (p.Pro181Gln)
8g.96144991G>ACA371751476GDF6c.940C>T (p.Pro314Ser)
c.793+85C>T (n.793+85C>T)
c.874+66C>T (n.874+66C>T)
c.541C>T (p.Pro181Ser)
 gnomAD v4
8g.96144991G>CCA371751477GDF6c.940C>G (p.Pro314Ala)
c.793+85C>G (n.793+85C>G)
c.874+66C>G (n.874+66C>G)
c.541C>G (p.Pro181Ala)
 gnomAD v4
8g.96144991G>TCA371751478GDF6c.940C>A (p.Pro314Thr)
c.793+85C>A (n.793+85C>A)
c.874+66C>A (n.874+66C>A)
c.541C>A (p.Pro181Thr)
 gnomAD v4
8g.96144992C>ACA371751479GDF6c.939G>T (p.Trp313Cys)
c.793+84G>T (n.793+84G>T)
c.874+65G>T (n.874+65G>T)
c.540G>T (p.Trp180Cys)
 gnomAD v4
8g.96144992C=CA1804261483GDF6c.939G= (p.Trp313=)
c.793+84G= (n.793+84G=)
c.874+65G= (n.874+65G=)
c.540G= (p.Trp180=)
8g.96144992C>GCA371751480GDF6c.939G>C (p.Trp313Cys)
c.793+84G>C (n.793+84G>C)
c.874+65G>C (n.874+65G>C)
c.540G>C (p.Trp180Cys)
8g.96144992C>TCA371751481GDF6c.939G>A (p.Trp313Ter)
c.793+84G>A (n.793+84G>A)
c.874+65G>A (n.874+65G>A)
c.540G>A (p.Trp180Ter)
 dbSNP gnomAD v4
8g.96144993C>ACA371751482GDF6c.938G>T (p.Trp313Leu)
c.793+83G>T (n.793+83G>T)
c.874+64G>T (n.874+64G>T)
c.539G>T (p.Trp180Leu)
 gnomAD v4
8g.96144993C>GCA371751483GDF6c.938G>C (p.Trp313Ser)
c.793+83G>C (n.793+83G>C)
c.874+64G>C (n.874+64G>C)
c.539G>C (p.Trp180Ser)
8g.96144993C>TCA371751484GDF6c.938G>A (p.Trp313Ter)
c.793+83G>A (n.793+83G>A)
c.874+64G>A (n.874+64G>A)
c.539G>A (p.Trp180Ter)
 gnomAD v4
8g.96144994A>CCA371751485GDF6c.937T>G (p.Trp313Gly)
c.793+82T>G (n.793+82T>G)
c.874+63T>G (n.874+63T>G)
c.538T>G (p.Trp180Gly)
8g.96144994A>GCA371751486GDF6c.937T>C (p.Trp313Arg)
c.793+82T>C (n.793+82T>C)
c.874+63T>C (n.874+63T>C)
c.538T>C (p.Trp180Arg)
8g.96144994A>TCA371751487GDF6c.937T>A (p.Trp313Arg)
c.793+82T>A (n.793+82T>A)
c.874+63T>A (n.874+63T>A)
c.538T>A (p.Trp180Arg)
8g.96144995C>ACA462454661GDF6c.936G>T (p.Ser312=)
c.793+81G>T (n.793+81G>T)
c.874+62G>T (n.874+62G>T)
c.537G>T (p.Ser179=)
 dbSNP gnomAD v2 gnomAD v4
8g.96144995C=CA1804261489GDF6c.936G= (p.Ser312=)
c.793+81G= (n.793+81G=)
c.874+62G= (n.874+62G=)
c.537G= (p.Ser179=)
8g.96144995C>GCA4815388GDF6c.936G>C (p.Ser312=)
c.793+81G>C (n.793+81G>C)
c.874+62G>C (n.874+62G>C)
c.537G>C (p.Ser179=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96144995C>TCA462454660GDF6c.936G>A (p.Ser312=)
c.793+81G>A (n.793+81G>A)
c.874+62G>A (n.874+62G>A)
c.537G>A (p.Ser179=)
 gnomAD v4
8g.96144996delCA2781376666GDF6c.935del (p.Ser312CysfsTer?)
c.793+80del (n.793+80del)
c.874+61del (n.874+61del)
c.536del (p.Ser179CysfsTer?)
8g.96144996G>ACA371751490GDF6c.935C>T (p.Ser312Leu)
c.793+80C>T (n.793+80C>T)
c.874+61C>T (n.874+61C>T)
c.536C>T (p.Ser179Leu)
 gnomAD v4
8g.96144996G>CCA371751488GDF6c.935C>G (p.Ser312Trp)
c.793+80C>G (n.793+80C>G)
c.874+61C>G (n.874+61C>G)
c.536C>G (p.Ser179Trp)
8g.96144996G>TCA371751489GDF6c.935C>A (p.Ser312Ter)
c.793+80C>A (n.793+80C>A)
c.874+61C>A (n.874+61C>A)
c.536C>A (p.Ser179Ter)
 gnomAD v4
8g.96144997A>CCA371751491GDF6c.934T>G (p.Ser312Ala)
c.793+79T>G (n.793+79T>G)
c.874+60T>G (n.874+60T>G)
c.535T>G (p.Ser179Ala)
8g.96144997A>GCA371751492GDF6c.934T>C (p.Ser312Pro)
c.793+79T>C (n.793+79T>C)
c.874+60T>C (n.874+60T>C)
c.535T>C (p.Ser179Pro)
 gnomAD v4
8g.96144997A>TCA371751493GDF6c.934T>A (p.Ser312Thr)
c.793+79T>A (n.793+79T>A)
c.874+60T>A (n.874+60T>A)
c.535T>A (p.Ser179Thr)
8g.96144998C>ACA462454667GDF6c.933G>T (p.Gly311=)
c.793+78G>T (n.793+78G>T)
c.874+59G>T (n.874+59G>T)
c.534G>T (p.Gly178=)
 gnomAD v4
8g.96144998C>GCA462454668GDF6c.933G>C (p.Gly311=)
c.793+78G>C (n.793+78G>C)
c.874+59G>C (n.874+59G>C)
c.534G>C (p.Gly178=)
8g.96144998C>TCA462454669GDF6c.933G>A (p.Gly311=)
c.793+78G>A (n.793+78G>A)
c.874+59G>A (n.874+59G>A)
c.534G>A (p.Gly178=)
 gnomAD v4
8g.96145001delCA2687993693GDF6c.933del (p.Ser312ArgfsTer?)
c.793+78del (n.793+78del)
c.874+59del (n.874+59del)
c.534del (p.Ser179ArgfsTer?)
 gnomAD v4
8g.96144998_96144999insAGACA2781376667GDF6c.932_933insTCT (p.Gly311_Ser312insLeu)
c.793+77_793+78insTCT (n.793+77_793+78insTCT)
c.874+58_874+59insTCT (n.874+58_874+59insTCT)
c.533_534insTCT (p.Gly178_Ser179insLeu)
8g.96144998_96144999insGATGAGCGCGAACTCGGAGTAGGCCGTCATGGCCAGACA2781376668GDF6c.932_933insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (p.Ser312LeufsTer?)
c.793+77_793+78insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (n.793+77_793+78insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC)
c.874+58_874+59insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (n.874+58_874+59insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC)
c.533_534insTCTGGCCATGACGGCCTACTCCGAGTTCGCGCTCATC (p.Ser179LeufsTer?)
8g.96144999C>ACA371751494GDF6c.932G>T (p.Gly311Val)
c.793+77G>T (n.793+77G>T)
c.874+58G>T (n.874+58G>T)
c.533G>T (p.Gly178Val)
 gnomAD v4
8g.96144999C=CA1804261492GDF6c.932G= (p.Gly311=)
c.793+77G= (n.793+77G=)
c.874+58G= (n.874+58G=)
c.533G= (p.Gly178=)
8g.96144999C>GCA371751495GDF6c.932G>C (p.Gly311Ala)
c.793+77G>C (n.793+77G>C)
c.874+58G>C (n.874+58G>C)
c.533G>C (p.Gly178Ala)
8g.96144999C>TCA371751496GDF6c.932G>A (p.Gly311Glu)
c.793+77G>A (n.793+77G>A)
c.874+58G>A (n.874+58G>A)
c.533G>A (p.Gly178Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145000C>ACA371751497GDF6c.931G>T (p.Gly311Trp)
c.793+76G>T (n.793+76G>T)
c.874+57G>T (n.874+57G>T)
c.532G>T (p.Gly178Trp)
 dbSNP gnomAD v4
8g.96145000C=CA1804261497GDF6c.931G= (p.Gly311=)
c.793+76G= (n.793+76G=)
c.874+57G= (n.874+57G=)
c.532G= (p.Gly178=)
8g.96145000C>GCA371751498GDF6c.931G>C (p.Gly311Arg)
c.793+76G>C (n.793+76G>C)
c.874+57G>C (n.874+57G>C)
c.532G>C (p.Gly178Arg)
8g.96145000C>TCA371751499GDF6c.931G>A (p.Gly311Arg)
c.793+76G>A (n.793+76G>A)
c.874+57G>A (n.874+57G>A)
c.532G>A (p.Gly178Arg)
 ClinVar dbSNP gnomAD v4
8g.96145001C>ACA371751500GDF6c.930G>T (p.Glu310Asp)
c.793+75G>T (n.793+75G>T)
c.874+56G>T (n.874+56G>T)
c.531G>T (p.Glu177Asp)
 gnomAD v4
8g.96145001C>GCA371751501GDF6c.930G>C (p.Glu310Asp)
c.793+75G>C (n.793+75G>C)
c.874+56G>C (n.874+56G>C)
c.531G>C (p.Glu177Asp)
8g.96145001C>TCA462454675GDF6c.930G>A (p.Glu310=)
c.793+75G>A (n.793+75G>A)
c.874+56G>A (n.874+56G>A)
c.531G>A (p.Glu177=)
 gnomAD v4
8g.96145002T>ACA371751504GDF6c.929A>T (p.Glu310Val)
c.793+74A>T (n.793+74A>T)
c.874+55A>T (n.874+55A>T)
c.530A>T (p.Glu177Val)
 gnomAD v4
8g.96145002T>CCA371751502GDF6c.929A>G (p.Glu310Gly)
c.793+74A>G (n.793+74A>G)
c.874+55A>G (n.874+55A>G)
c.530A>G (p.Glu177Gly)
 gnomAD v4
8g.96145002T>GCA371751503GDF6c.929A>C (p.Glu310Ala)
c.793+74A>C (n.793+74A>C)
c.874+55A>C (n.874+55A>C)
c.530A>C (p.Glu177Ala)
8g.96145002T=CA1804261506GDF6c.929A= (p.Glu310=)
c.793+74A= (n.793+74A=)
c.874+55A= (n.874+55A=)
c.530A= (p.Glu177=)
8g.96145003C>ACA371751505GDF6c.928G>T (p.Glu310Ter)
c.793+73G>T (n.793+73G>T)
c.874+54G>T (n.874+54G>T)
c.529G>T (p.Glu177Ter)
 gnomAD v4
8g.96145003C=CA1804261512GDF6c.928G= (p.Glu310=)
c.793+73G= (n.793+73G=)
c.874+54G= (n.874+54G=)
c.529G= (p.Glu177=)
8g.96145003C>GCA371751506GDF6c.928G>C (p.Glu310Gln)
c.793+73G>C (n.793+73G>C)
c.874+54G>C (n.874+54G>C)
c.529G>C (p.Glu177Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.96145003C>TCA371751507GDF6c.928G>A (p.Glu310Lys)
c.793+73G>A (n.793+73G>A)
c.874+54G>A (n.874+54G>A)
c.529G>A (p.Glu177Lys)
 ClinVar gnomAD v4
8g.96145004_96145009dupCA583845608GDF6c.923_928dup (p.Ala309_Glu310insGlyAla)
c.793+68_793+73dup (n.793+68_793+73dup)
c.874+49_874+54dup (n.874+49_874+54dup)
c.524_529dup (p.Ala176_Glu177insGlyAla)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145004G>ACA462454682GDF6c.927C>T (p.Ala309=)
c.793+72C>T (n.793+72C>T)
c.874+53C>T (n.874+53C>T)
c.528C>T (p.Ala176=)
 gnomAD v4
8g.96145004G>CCA462454683GDF6c.927C>G (p.Ala309=)
c.793+72C>G (n.793+72C>G)
c.874+53C>G (n.874+53C>G)
c.528C>G (p.Ala176=)
8g.96145004G>TCA462454685GDF6c.927C>A (p.Ala309=)
c.793+72C>A (n.793+72C>A)
c.874+53C>A (n.874+53C>A)
c.528C>A (p.Ala176=)
 gnomAD v4
8g.96145005G>ACA371751508GDF6c.926C>T (p.Ala309Val)
c.793+71C>T (n.793+71C>T)
c.874+52C>T (n.874+52C>T)
c.527C>T (p.Ala176Val)
 gnomAD v4
8g.96145005G>CCA371751509GDF6c.926C>G (p.Ala309Gly)
c.793+71C>G (n.793+71C>G)
c.874+52C>G (n.874+52C>G)
c.527C>G (p.Ala176Gly)
8g.96145005G>TCA371751510GDF6c.926C>A (p.Ala309Asp)
c.793+71C>A (n.793+71C>A)
c.874+52C>A (n.874+52C>A)
c.527C>A (p.Ala176Asp)
 gnomAD v4
8g.96145012_96145017dupCA2687993695GDF6c.921_926dup (p.Ala309_Glu310insGlyAla)
c.793+66_793+71dup (n.793+66_793+71dup)
c.874+47_874+52dup (n.874+47_874+52dup)
c.522_527dup (p.Ala176_Glu177insGlyAla)
 gnomAD v4
8g.96145006_96145017dupCA2687993694GDF6c.915_926dup (p.Ala309_Glu310insGlyAlaGlyAla)
c.793+60_793+71dup (n.793+60_793+71dup)
c.874+41_874+52dup (n.874+41_874+52dup)
c.516_527dup (p.Ala176_Glu177insGlyAlaGlyAla)
 gnomAD v4
8g.96145012_96145017delCA2567509463GDF6c.921_926del (p.Gly308_Ala309del)
c.793+66_793+71del (n.793+66_793+71del)
c.874+47_874+52del (n.874+47_874+52del)
c.522_527del (p.Gly175_Ala176del)
8g.96145005_96145047delinsGCGCCCGCGCCCGGGCCCGCAGCCTCGGCCGAGCCCAGCTGCTCA1804261514GDF6c.884_926delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (p.Glu295=)
c.793+29_793+71delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (n.793+29_793+71delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC)
c.874+10_874+52delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (n.874+10_874+52delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC)
c.485_527delinsAGCAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCGC (p.Glu162=)
8g.96145006C>ACA371751511GDF6c.925G>T (p.Ala309Ser)
c.793+70G>T (n.793+70G>T)
c.874+51G>T (n.874+51G>T)
c.526G>T (p.Ala176Ser)
 gnomAD v4
8g.96145006C>GCA371751512GDF6c.925G>C (p.Ala309Pro)
c.793+70G>C (n.793+70G>C)
c.874+51G>C (n.874+51G>C)
c.526G>C (p.Ala176Pro)
8g.96145006C>TCA371751513GDF6c.925G>A (p.Ala309Thr)
c.793+70G>A (n.793+70G>A)
c.874+51G>A (n.874+51G>A)
c.526G>A (p.Ala176Thr)
 gnomAD v4
8g.96145006_96145044delinsCGCCCGCGCCCGGGCCCGCAGCCTCGGCCGAGCCCAGCTCA1804261519GDF6c.887_925delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (p.Gln296=)
c.793+32_793+70delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (n.793+32_793+70delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG)
c.874+13_874+51delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (n.874+13_874+51delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG)
c.488_526delinsAGCTGGGCTCGGCCGAGGCTGCGGGCCCGGGCGCGGGCG (p.Gln163=)
8g.96145009_96145050delCA1116878395GDF6c.884_925del (p.Glu295_Gly308del)
c.793+29_793+70del (n.793+29_793+70del)
c.874+10_874+51del (n.874+10_874+51del)
c.485_526del (p.Glu162_Gly175del)
 dbSNP gnomAD v3 gnomAD v4
8g.96145007G>ACA462454692GDF6c.924C>T (p.Gly308=)
c.793+69C>T (n.793+69C>T)
c.874+50C>T (n.874+50C>T)
c.525C>T (p.Gly175=)
 dbSNP gnomAD v4
8g.96145007G>CCA462454694GDF6c.924C>G (p.Gly308=)
c.793+69C>G (n.793+69C>G)
c.874+50C>G (n.874+50C>G)
c.525C>G (p.Gly175=)
8g.96145007G=CA1804261525GDF6c.924C= (p.Gly308=)
c.793+69C= (n.793+69C=)
c.874+50C= (n.874+50C=)
c.525C= (p.Gly175=)
8g.96145007G>TCA462454696GDF6c.924C>A (p.Gly308=)
c.793+69C>A (n.793+69C>A)
c.874+50C>A (n.874+50C>A)
c.525C>A (p.Gly175=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145009_96145046delCA583845609GDF6c.887_924del (p.Gln296ArgfsTer?)
c.793+32_793+69del (n.793+32_793+69del)
c.874+13_874+50del (n.874+13_874+50del)
c.488_525del (p.Gln163ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.96145008C>ACA371751514GDF6c.923G>T (p.Gly308Val)
c.793+68G>T (n.793+68G>T)
c.874+49G>T (n.874+49G>T)
c.524G>T (p.Gly175Val)
 gnomAD v4
8g.96145008C>GCA371751515GDF6c.923G>C (p.Gly308Ala)
c.793+68G>C (n.793+68G>C)
c.874+49G>C (n.874+49G>C)
c.524G>C (p.Gly175Ala)
8g.96145008C>TCA371751516GDF6c.923G>A (p.Gly308Asp)
c.793+68G>A (n.793+68G>A)
c.874+49G>A (n.874+49G>A)
c.524G>A (p.Gly175Asp)
 gnomAD v4
8g.96145010delCA2687993696GDF6c.923del (p.Gly308AlafsTer?)
c.793+68del (n.793+68del)
c.874+49del (n.874+49del)
c.524del (p.Gly175AlafsTer?)
 gnomAD v4
8g.96145009C>ACA371751517GDF6c.922G>T (p.Gly308Cys)
c.793+67G>T (n.793+67G>T)
c.874+48G>T (n.874+48G>T)
c.523G>T (p.Gly175Cys)
 gnomAD v4
8g.96145009C>GCA371751519GDF6c.922G>C (p.Gly308Arg)
c.793+67G>C (n.793+67G>C)
c.874+48G>C (n.874+48G>C)
c.523G>C (p.Gly175Arg)
 gnomAD v4
8g.96145009C>TCA371751518GDF6c.922G>A (p.Gly308Ser)
c.793+67G>A (n.793+67G>A)
c.874+48G>A (n.874+48G>A)
c.523G>A (p.Gly175Ser)
 gnomAD v4
8g.96145010C>ACA462454706GDF6c.921G>T (p.Ala307=)
c.793+66G>T (n.793+66G>T)
c.874+47G>T (n.874+47G>T)
c.522G>T (p.Ala174=)
 gnomAD v4
8g.96145010C=CA1804261534GDF6c.921G= (p.Ala307=)
c.793+66G= (n.793+66G=)
c.874+47G= (n.874+47G=)
c.522G= (p.Ala174=)
8g.96145010C>GCA4815389GDF6c.921G>C (p.Ala307=)
c.793+66G>C (n.793+66G>C)
c.874+47G>C (n.874+47G>C)
c.522G>C (p.Ala174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145010C>TCA462454707GDF6c.921G>A (p.Ala307=)
c.793+66G>A (n.793+66G>A)
c.874+47G>A (n.874+47G>A)
c.522G>A (p.Ala174=)
 gnomAD v4
8g.96145011G>ACA371751522GDF6c.920C>T (p.Ala307Val)
c.793+65C>T (n.793+65C>T)
c.874+46C>T (n.874+46C>T)
c.521C>T (p.Ala174Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145011G>CCA371751520GDF6c.920C>G (p.Ala307Gly)
c.793+65C>G (n.793+65C>G)
c.874+46C>G (n.874+46C>G)
c.521C>G (p.Ala174Gly)
 gnomAD v4
8g.96145011G=CA1804261539GDF6c.920C= (p.Ala307=)
c.793+65C= (n.793+65C=)
c.874+46C= (n.874+46C=)
c.521C= (p.Ala174=)
8g.96145011G>TCA371751521GDF6c.920C>A (p.Ala307Glu)
c.793+65C>A (n.793+65C>A)
c.874+46C>A (n.874+46C>A)
c.521C>A (p.Ala174Glu)
 gnomAD v4
8g.96145012C>ACA371751523GDF6c.919G>T (p.Ala307Ser)
c.793+64G>T (n.793+64G>T)
c.874+45G>T (n.874+45G>T)
c.520G>T (p.Ala174Ser)
 gnomAD v4
8g.96145012C=CA1804261549GDF6c.919G= (p.Ala307=)
c.793+64G= (n.793+64G=)
c.874+45G= (n.874+45G=)
c.520G= (p.Ala174=)
8g.96145012C>GCA371751524GDF6c.919G>C (p.Ala307Pro)
c.793+64G>C (n.793+64G>C)
c.874+45G>C (n.874+45G>C)
c.520G>C (p.Ala174Pro)
8g.96145012C>TCA371751525GDF6c.919G>A (p.Ala307Thr)
c.793+64G>A (n.793+64G>A)
c.874+45G>A (n.874+45G>A)
c.520G>A (p.Ala174Thr)
 gnomAD v4
8g.96145013G>ACA462454712GDF6c.918C>T (p.Gly306=)
c.793+63C>T (n.793+63C>T)
c.874+44C>T (n.874+44C>T)
c.519C>T (p.Gly173=)
 gnomAD v4
8g.96145013G>CCA462454714GDF6c.918C>G (p.Gly306=)
c.793+63C>G (n.793+63C>G)
c.874+44C>G (n.874+44C>G)
c.519C>G (p.Gly173=)
8g.96145013G>TCA462454717GDF6c.918C>A (p.Gly306=)
c.793+63C>A (n.793+63C>A)
c.874+44C>A (n.874+44C>A)
c.519C>A (p.Gly173=)
 gnomAD v4
8g.96145018_96145023dupCA1116878406GDF6c.913_918dup (p.Gly306_Ala307insProGly)
c.793+58_793+63dup (n.793+58_793+63dup)
c.874+39_874+44dup (n.874+39_874+44dup)
c.514_519dup (p.Gly173_Ala174insProGly)
 dbSNP gnomAD v3 gnomAD v4
8g.96145014C>ACA371751526GDF6c.917G>T (p.Gly306Val)
c.793+62G>T (n.793+62G>T)
c.874+43G>T (n.874+43G>T)
c.518G>T (p.Gly173Val)
 gnomAD v4
8g.96145014C>GCA371751527GDF6c.917G>C (p.Gly306Ala)
c.793+62G>C (n.793+62G>C)
c.874+43G>C (n.874+43G>C)
c.518G>C (p.Gly173Ala)
8g.96145014C>TCA371751528GDF6c.917G>A (p.Gly306Asp)
c.793+62G>A (n.793+62G>A)
c.874+43G>A (n.874+43G>A)
c.518G>A (p.Gly173Asp)
 gnomAD v4
8g.96145016delCA2579211110GDF6c.917del (p.Gly306AlafsTer?)
c.793+62del (n.793+62del)
c.874+43del (n.874+43del)
c.518del (p.Gly173AlafsTer?)
 gnomAD v4
8g.96145015C>ACA371751529GDF6c.916G>T (p.Gly306Cys)
c.793+61G>T (n.793+61G>T)
c.874+42G>T (n.874+42G>T)
c.517G>T (p.Gly173Cys)
 gnomAD v4
8g.96145015C>GCA371751530GDF6c.916G>C (p.Gly306Arg)
c.793+61G>C (n.793+61G>C)
c.874+42G>C (n.874+42G>C)
c.517G>C (p.Gly173Arg)
8g.96145015C>TCA371751531GDF6c.916G>A (p.Gly306Ser)
c.793+61G>A (n.793+61G>A)
c.874+42G>A (n.874+42G>A)
c.517G>A (p.Gly173Ser)
 gnomAD v4
8g.96145016C>ACA462454726GDF6c.915G>T (p.Pro305=)
c.793+60G>T (n.793+60G>T)
c.874+41G>T (n.874+41G>T)
c.516G>T (p.Pro172=)
 gnomAD v4
8g.96145016C=CA1804261556GDF6c.915G= (p.Pro305=)
c.793+60G= (n.793+60G=)
c.874+41G= (n.874+41G=)
c.516G= (p.Pro172=)
8g.96145016C>GCA462454727GDF6c.915G>C (p.Pro305=)
c.793+60G>C (n.793+60G>C)
c.874+41G>C (n.874+41G>C)
c.516G>C (p.Pro172=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145016C>TCA462454723GDF6c.915G>A (p.Pro305=)
c.793+60G>A (n.793+60G>A)
c.874+41G>A (n.874+41G>A)
c.516G>A (p.Pro172=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145017G>ACA371751534GDF6c.914C>T (p.Pro305Leu)
c.793+59C>T (n.793+59C>T)
c.874+40C>T (n.874+40C>T)
c.515C>T (p.Pro172Leu)
 gnomAD v4
8g.96145017G>CCA371751533GDF6c.914C>G (p.Pro305Arg)
c.793+59C>G (n.793+59C>G)
c.874+40C>G (n.874+40C>G)
c.515C>G (p.Pro172Arg)
 gnomAD v4
8g.96145017G>TCA371751532GDF6c.914C>A (p.Pro305Gln)
c.793+59C>A (n.793+59C>A)
c.874+40C>A (n.874+40C>A)
c.515C>A (p.Pro172Gln)
 ClinVar gnomAD v4
8g.96145019delCA2687993697GDF6c.914del (p.Pro305ArgfsTer?)
c.793+59del (n.793+59del)
c.874+40del (n.874+40del)
c.515del (p.Pro172ArgfsTer?)
 gnomAD v4
8g.96145018G>ACA371751535GDF6c.913C>T (p.Pro305Ser)
c.793+58C>T (n.793+58C>T)
c.874+39C>T (n.874+39C>T)
c.514C>T (p.Pro172Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.96145018G>CCA371751536GDF6c.913C>G (p.Pro305Ala)
c.793+58C>G (n.793+58C>G)
c.874+39C>G (n.874+39C>G)
c.514C>G (p.Pro172Ala)
8g.96145018G=CA1804261558GDF6c.913C= (p.Pro305=)
c.793+58C= (n.793+58C=)
c.874+39C= (n.874+39C=)
c.514C= (p.Pro172=)
8g.96145018G>TCA371751537GDF6c.913C>A (p.Pro305Thr)
c.793+58C>A (n.793+58C>A)
c.874+39C>A (n.874+39C>A)
c.514C>A (p.Pro172Thr)
 gnomAD v4
8g.96145019G>ACA462454739GDF6c.912C>T (p.Gly304=)
c.793+57C>T (n.793+57C>T)
c.874+38C>T (n.874+38C>T)
c.513C>T (p.Gly171=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145019G>CCA462454737GDF6c.912C>G (p.Gly304=)
c.793+57C>G (n.793+57C>G)
c.874+38C>G (n.874+38C>G)
c.513C>G (p.Gly171=)
 gnomAD v4
8g.96145019G=CA1804261563GDF6c.912C= (p.Gly304=)
c.793+57C= (n.793+57C=)
c.874+38C= (n.874+38C=)
c.513C= (p.Gly171=)
8g.96145019G>TCA462454738GDF6c.912C>A (p.Gly304=)
c.793+57C>A (n.793+57C>A)
c.874+38C>A (n.874+38C>A)
c.513C>A (p.Gly171=)
 gnomAD v4
8g.96145020C>ACA371751538GDF6c.911G>T (p.Gly304Val)
c.793+56G>T (n.793+56G>T)
c.874+37G>T (n.874+37G>T)
c.512G>T (p.Gly171Val)
 gnomAD v4
8g.96145020C>GCA371751539GDF6c.911G>C (p.Gly304Ala)
c.793+56G>C (n.793+56G>C)
c.874+37G>C (n.874+37G>C)
c.512G>C (p.Gly171Ala)
8g.96145020C>TCA371751540GDF6c.911G>A (p.Gly304Asp)
c.793+56G>A (n.793+56G>A)
c.874+37G>A (n.874+37G>A)
c.512G>A (p.Gly171Asp)
 gnomAD v4
8g.96145021C>ACA371751541GDF6c.910G>T (p.Gly304Cys)
c.793+55G>T (n.793+55G>T)
c.874+36G>T (n.874+36G>T)
c.511G>T (p.Gly171Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.96145021C=CA1804261566GDF6c.910G= (p.Gly304=)
c.793+55G= (n.793+55G=)
c.874+36G= (n.874+36G=)
c.511G= (p.Gly171=)
8g.96145021C>GCA371751542GDF6c.910G>C (p.Gly304Arg)
c.793+55G>C (n.793+55G>C)
c.874+36G>C (n.874+36G>C)
c.511G>C (p.Gly171Arg)
8g.96145021C>TCA371751543GDF6c.910G>A (p.Gly304Ser)
c.793+55G>A (n.793+55G>A)
c.874+36G>A (n.874+36G>A)
c.511G>A (p.Gly171Ser)
 gnomAD v4
8g.96145022C>ACA462454746GDF6c.909G>T (p.Ala303=)
c.793+54G>T (n.793+54G>T)
c.874+35G>T (n.874+35G>T)
c.510G>T (p.Ala170=)
 gnomAD v4
8g.96145022C=CA1804261573GDF6c.909G= (p.Ala303=)
c.793+54G= (n.793+54G=)
c.874+35G= (n.874+35G=)
c.510G= (p.Ala170=)
8g.96145022C>GCA462454750GDF6c.909G>C (p.Ala303=)
c.793+54G>C (n.793+54G>C)
c.874+35G>C (n.874+35G>C)
c.510G>C (p.Ala170=)
 dbSNP gnomAD v3 gnomAD v4
8g.96145022C>TCA462454747GDF6c.909G>A (p.Ala303=)
c.793+54G>A (n.793+54G>A)
c.874+35G>A (n.874+35G>A)
c.510G>A (p.Ala170=)
 gnomAD v4
8g.96145023G>ACA371751544GDF6c.908C>T (p.Ala303Val)
c.793+53C>T (n.793+53C>T)
c.874+34C>T (n.874+34C>T)
c.509C>T (p.Ala170Val)
 gnomAD v4
8g.96145023G>CCA371751545GDF6c.908C>G (p.Ala303Gly)
c.793+53C>G (n.793+53C>G)
c.874+34C>G (n.874+34C>G)
c.509C>G (p.Ala170Gly)
 gnomAD v4
8g.96145023G>TCA371751546GDF6c.908C>A (p.Ala303Glu)
c.793+53C>A (n.793+53C>A)
c.874+34C>A (n.874+34C>A)
c.509C>A (p.Ala170Glu)
 gnomAD v4
8g.96145024delCA2687993698GDF6c.907del (p.Ala303ArgfsTer?)
c.793+52del (n.793+52del)
c.874+33del (n.874+33del)
c.508del (p.Ala170ArgfsTer?)
 gnomAD v4
8g.96145024C>ACA371751549GDF6c.907G>T (p.Ala303Ser)
c.793+52G>T (n.793+52G>T)
c.874+33G>T (n.874+33G>T)
c.508G>T (p.Ala170Ser)
 gnomAD v4
8g.96145024C>GCA371751548GDF6c.907G>C (p.Ala303Pro)
c.793+52G>C (n.793+52G>C)
c.874+33G>C (n.874+33G>C)
c.508G>C (p.Ala170Pro)
8g.96145024C>TCA371751547GDF6c.907G>A (p.Ala303Thr)
c.793+52G>A (n.793+52G>A)
c.874+33G>A (n.874+33G>A)
c.508G>A (p.Ala170Thr)
 gnomAD v4
8g.96145025A=CA1804261579GDF6c.906T= (p.Ala302=)
c.793+51T= (n.793+51T=)
c.874+32T= (n.874+32T=)
c.507T= (p.Ala169=)
8g.96145025A>CCA181485030GDF6c.906T>G (p.Ala302=)
c.793+51T>G (n.793+51T>G)
c.874+32T>G (n.874+32T>G)
c.507T>G (p.Ala169=)
 dbSNP gnomAD v4
8g.96145025A>GCA462454773GDF6c.906T>C (p.Ala302=)
c.793+51T>C (n.793+51T>C)
c.874+32T>C (n.874+32T>C)
c.507T>C (p.Ala169=)
 gnomAD v4
8g.96145025A>TCA462454776GDF6c.906T>A (p.Ala302=)
c.793+51T>A (n.793+51T>A)
c.874+32T>A (n.874+32T>A)
c.507T>A (p.Ala169=)
 gnomAD v4
8g.96145026G>ACA371751550GDF6c.905C>T (p.Ala302Val)
c.793+50C>T (n.793+50C>T)
c.874+31C>T (n.874+31C>T)
c.506C>T (p.Ala169Val)
 gnomAD v4
8g.96145026G>CCA371751551GDF6c.905C>G (p.Ala302Gly)
c.793+50C>G (n.793+50C>G)
c.874+31C>G (n.874+31C>G)
c.506C>G (p.Ala169Gly)
 gnomAD v4
8g.96145026G>TCA371751552GDF6c.905C>A (p.Ala302Asp)
c.793+50C>A (n.793+50C>A)
c.874+31C>A (n.874+31C>A)
c.506C>A (p.Ala169Asp)
 gnomAD v4
8g.96145027C>ACA371751553GDF6c.904G>T (p.Ala302Ser)
c.793+49G>T (n.793+49G>T)
c.874+30G>T (n.874+30G>T)
c.505G>T (p.Ala169Ser)
 gnomAD v4
8g.96145027C>GCA371751554GDF6c.904G>C (p.Ala302Pro)
c.793+49G>C (n.793+49G>C)
c.874+30G>C (n.874+30G>C)
c.505G>C (p.Ala169Pro)
8g.96145027C>TCA371751555GDF6c.904G>A (p.Ala302Thr)
c.793+49G>A (n.793+49G>A)
c.874+30G>A (n.874+30G>A)
c.505G>A (p.Ala169Thr)
 gnomAD v4
8g.96145028delCA2687993699GDF6c.904del (p.Ala302LeufsTer?)
c.793+49del (n.793+49del)
c.874+30del (n.874+30del)
c.505del (p.Ala169LeufsTer?)
 gnomAD v4
8g.96145028C>ACA371751556GDF6c.903G>T (p.Glu301Asp)
c.793+48G>T (n.793+48G>T)
c.874+29G>T (n.874+29G>T)
c.504G>T (p.Glu168Asp)
 gnomAD v4
8g.96145028C>GCA371751557GDF6c.903G>C (p.Glu301Asp)
c.793+48G>C (n.793+48G>C)
c.874+29G>C (n.874+29G>C)
c.504G>C (p.Glu168Asp)
8g.96145028C>TCA462454787GDF6c.903G>A (p.Glu301=)
c.793+48G>A (n.793+48G>A)
c.874+29G>A (n.874+29G>A)
c.504G>A (p.Glu168=)
 ClinVar dbSNP gnomAD v4
8g.96145029T>ACA371751558GDF6c.902A>T (p.Glu301Val)
c.793+47A>T (n.793+47A>T)
c.874+28A>T (n.874+28A>T)
c.503A>T (p.Glu168Val)
8g.96145029T>CCA4815390GDF6c.902A>G (p.Glu301Gly)
c.793+47A>G (n.793+47A>G)
c.874+28A>G (n.874+28A>G)
c.503A>G (p.Glu168Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145029T>GCA371751559GDF6c.902A>C (p.Glu301Ala)
c.793+47A>C (n.793+47A>C)
c.874+28A>C (n.874+28A>C)
c.503A>C (p.Glu168Ala)
8g.96145029T=CA1804261585GDF6c.902A= (p.Glu301=)
c.793+47A= (n.793+47A=)
c.874+28A= (n.874+28A=)
c.503A= (p.Glu168=)
8g.96145030delCA2687993700GDF6c.901del (p.Glu301ArgfsTer?)
c.793+46del (n.793+46del)
c.874+27del (n.874+27del)
c.502del (p.Glu168ArgfsTer?)
 gnomAD v4
8g.96145030C>ACA371751562GDF6c.901G>T (p.Glu301Ter)
c.793+46G>T (n.793+46G>T)
c.874+27G>T (n.874+27G>T)
c.502G>T (p.Glu168Ter)
 gnomAD v4
8g.96145030C=CA1804261596GDF6c.901G= (p.Glu301=)
c.793+46G= (n.793+46G=)
c.874+27G= (n.874+27G=)
c.502G= (p.Glu168=)
8g.96145030C>GCA371751561GDF6c.901G>C (p.Glu301Gln)
c.793+46G>C (n.793+46G>C)
c.874+27G>C (n.874+27G>C)
c.502G>C (p.Glu168Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.96145030C>TCA371751560GDF6c.901G>A (p.Glu301Lys)
c.793+46G>A (n.793+46G>A)
c.874+27G>A (n.874+27G>A)
c.502G>A (p.Glu168Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.96145030_96145031delCA2687993701GDF6c.900_901del (p.Glu301GlyfsTer?)
c.793+45_793+46del (n.793+45_793+46del)
c.874+26_874+27del (n.874+26_874+27del)
c.501_502del (p.Glu168GlyfsTer?)
 gnomAD v4
8g.96145030_96145031insACACA2781376669GDF6c.900_901insTGT (p.Ala300_Glu301insCys)
c.793+45_793+46insTGT (n.793+45_793+46insTGT)
c.874+26_874+27insTGT (n.874+26_874+27insTGT)
c.501_502insTGT (p.Ala167_Glu168insCys)
8g.96145031G>ACA462454789GDF6c.900C>T (p.Ala300=)
c.793+45C>T (n.793+45C>T)
c.874+26C>T (n.874+26C>T)
c.501C>T (p.Ala167=)
 gnomAD v4
8g.96145031G>CCA462454790GDF6c.900C>G (p.Ala300=)
c.793+45C>G (n.793+45C>G)
c.874+26C>G (n.874+26C>G)
c.501C>G (p.Ala167=)
 dbSNP gnomAD v4
8g.96145031G=CA1804261599GDF6c.900C= (p.Ala300=)
c.793+45C= (n.793+45C=)
c.874+26C= (n.874+26C=)
c.501C= (p.Ala167=)
8g.96145031G>TCA462454791GDF6c.900C>A (p.Ala300=)
c.793+45C>A (n.793+45C>A)
c.874+26C>A (n.874+26C>A)
c.501C>A (p.Ala167=)
 gnomAD v4
8g.96145032G>ACA371751563GDF6c.899C>T (p.Ala300Val)
c.793+44C>T (n.793+44C>T)
c.874+25C>T (n.874+25C>T)
c.500C>T (p.Ala167Val)
 gnomAD v4
8g.96145032G>CCA371751564GDF6c.899C>G (p.Ala300Gly)
c.793+44C>G (n.793+44C>G)
c.874+25C>G (n.874+25C>G)
c.500C>G (p.Ala167Gly)
8g.96145032G>TCA371751565GDF6c.899C>A (p.Ala300Asp)
c.793+44C>A (n.793+44C>A)
c.874+25C>A (n.874+25C>A)
c.500C>A (p.Ala167Asp)
 gnomAD v4
8g.96145033C>ACA371751566GDF6c.898G>T (p.Ala300Ser)
c.793+43G>T (n.793+43G>T)
c.874+24G>T (n.874+24G>T)
c.499G>T (p.Ala167Ser)
 gnomAD v4
8g.96145033C>GCA371751567GDF6c.898G>C (p.Ala300Pro)
c.793+43G>C (n.793+43G>C)
c.874+24G>C (n.874+24G>C)
c.499G>C (p.Ala167Pro)
8g.96145033C>TCA371751568GDF6c.898G>A (p.Ala300Thr)
c.793+43G>A (n.793+43G>A)
c.874+24G>A (n.874+24G>A)
c.499G>A (p.Ala167Thr)
 gnomAD v4
8g.96145034C>ACA462454798GDF6c.897G>T (p.Ser299=)
c.793+42G>T (n.793+42G>T)
c.874+23G>T (n.874+23G>T)
c.498G>T (p.Ser166=)
 gnomAD v4
8g.96145034C=CA1804261601GDF6c.897G= (p.Ser299=)
c.793+42G= (n.793+42G=)
c.874+23G= (n.874+23G=)
c.498G= (p.Ser166=)
8g.96145034C>GCA462454799GDF6c.897G>C (p.Ser299=)
c.793+42G>C (n.793+42G>C)
c.874+23G>C (n.874+23G>C)
c.498G>C (p.Ser166=)
 ClinVar gnomAD v4
8g.96145034C>TCA4815391GDF6c.897G>A (p.Ser299=)
c.793+42G>A (n.793+42G>A)
c.874+23G>A (n.874+23G>A)
c.498G>A (p.Ser166=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8g.96145035delCA2781376670GDF6c.896del (p.Ser299TrpfsTer?)
c.793+41del (n.793+41del)
c.874+22del (n.874+22del)
c.497del (p.Ser166TrpfsTer?)
8g.96145035G>ACA4815392GDF6c.896C>T (p.Ser299Leu)
c.793+41C>T (n.793+41C>T)
c.874+22C>T (n.874+22C>T)
c.497C>T (p.Ser166Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145035G>CCA371751569GDF6c.896C>G (p.Ser299Trp)
c.793+41C>G (n.793+41C>G)
c.874+22C>G (n.874+22C>G)
c.497C>G (p.Ser166Trp)
 gnomAD v4
8g.96145035G=CA1804261608GDF6c.896C= (p.Ser299=)
c.793+41C= (n.793+41C=)
c.874+22C= (n.874+22C=)
c.497C= (p.Ser166=)
8g.96145035G>TCA371751570GDF6c.896C>A (p.Ser299Ter)
c.793+41C>A (n.793+41C>A)
c.874+22C>A (n.874+22C>A)
c.497C>A (p.Ser166Ter)
 gnomAD v4
8g.96145036A>CCA371751571GDF6c.895T>G (p.Ser299Ala)
c.793+40T>G (n.793+40T>G)
c.874+21T>G (n.874+21T>G)
c.496T>G (p.Ser166Ala)
8g.96145036A>GCA371751572GDF6c.895T>C (p.Ser299Pro)
c.793+40T>C (n.793+40T>C)
c.874+21T>C (n.874+21T>C)
c.496T>C (p.Ser166Pro)
 gnomAD v4
8g.96145036A>TCA371751573GDF6c.895T>A (p.Ser299Thr)
c.793+40T>A (n.793+40T>A)
c.874+21T>A (n.874+21T>A)
c.496T>A (p.Ser166Thr)
8g.96145037G>ACA462454818GDF6c.894C>T (p.Gly298=)
c.793+39C>T (n.793+39C>T)
c.874+20C>T (n.874+20C>T)
c.495C>T (p.Gly165=)
 gnomAD v4 COSMIC
8g.96145037G>CCA462454816GDF6c.894C>G (p.Gly298=)
c.793+39C>G (n.793+39C>G)
c.874+20C>G (n.874+20C>G)
c.495C>G (p.Gly165=)
8g.96145037G>TCA462454815GDF6c.894C>A (p.Gly298=)
c.793+39C>A (n.793+39C>A)
c.874+20C>A (n.874+20C>A)
c.495C>A (p.Gly165=)
 gnomAD v4
8g.96145038C>ACA371751575GDF6c.893G>T (p.Gly298Val)
c.793+38G>T (n.793+38G>T)
c.874+19G>T (n.874+19G>T)
c.494G>T (p.Gly165Val)
 gnomAD v4
8g.96145038C=CA1804261613GDF6c.893G= (p.Gly298=)
c.793+38G= (n.793+38G=)
c.874+19G= (n.874+19G=)
c.494G= (p.Gly165=)
8g.96145038C>GCA371751576GDF6c.893G>C (p.Gly298Ala)
c.793+38G>C (n.793+38G>C)
c.874+19G>C (n.874+19G>C)
c.494G>C (p.Gly165Ala)
8g.96145038C>TCA371751574GDF6c.893G>A (p.Gly298Asp)
c.793+38G>A (n.793+38G>A)
c.874+19G>A (n.874+19G>A)
c.494G>A (p.Gly165Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145040delCA2687993702GDF6c.893del (p.Gly298AlafsTer?)
c.793+38del (n.793+38del)
c.874+19del (n.874+19del)
c.494del (p.Gly165AlafsTer?)
 gnomAD v4
8g.96145038_96145043delCA2687993703GDF6c.888_893del (p.Gln296_Gly298delinsHis)
c.793+33_793+38del (n.793+33_793+38del)
c.874+14_874+19del (n.874+14_874+19del)
c.489_494del (p.Gln163_Gly165delinsHis)
 gnomAD v4
8g.96145039C>ACA371751578GDF6c.892G>T (p.Gly298Cys)
c.793+37G>T (n.793+37G>T)
c.874+18G>T (n.874+18G>T)
c.493G>T (p.Gly165Cys)
 gnomAD v4
8g.96145039C=CA1804261616GDF6c.892G= (p.Gly298=)
c.793+37G= (n.793+37G=)
c.874+18G= (n.874+18G=)
c.493G= (p.Gly165=)
8g.96145039C>GCA371751577GDF6c.892G>C (p.Gly298Arg)
c.793+37G>C (n.793+37G>C)
c.874+18G>C (n.874+18G>C)
c.493G>C (p.Gly165Arg)
 gnomAD v4
8g.96145039C>TCA371751579GDF6c.892G>A (p.Gly298Ser)
c.793+37G>A (n.793+37G>A)
c.874+18G>A (n.874+18G>A)
c.493G>A (p.Gly165Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.96145040C>ACA462454827GDF6c.891G>T (p.Leu297=)
c.793+36G>T (n.793+36G>T)
c.874+17G>T (n.874+17G>T)
c.492G>T (p.Leu164=)
 gnomAD v4
8g.96145040C>GCA462454830GDF6c.891G>C (p.Leu297=)
c.793+36G>C (n.793+36G>C)
c.874+17G>C (n.874+17G>C)
c.492G>C (p.Leu164=)
8g.96145040C>TCA462454829GDF6c.891G>A (p.Leu297=)
c.793+36G>A (n.793+36G>A)
c.874+17G>A (n.874+17G>A)
c.492G>A (p.Leu164=)
 gnomAD v4
8g.96145041A>CCA371751580GDF6c.890T>G (p.Leu297Arg)
c.793+35T>G (n.793+35T>G)
c.874+16T>G (n.874+16T>G)
c.491T>G (p.Leu164Arg)
8g.96145041A>GCA371751582GDF6c.890T>C (p.Leu297Pro)
c.793+35T>C (n.793+35T>C)
c.874+16T>C (n.874+16T>C)
c.491T>C (p.Leu164Pro)
 gnomAD v4
8g.96145041A>TCA371751581GDF6c.890T>A (p.Leu297Gln)
c.793+35T>A (n.793+35T>A)
c.874+16T>A (n.874+16T>A)
c.491T>A (p.Leu164Gln)
 gnomAD v4
8g.96145042G>ACA462454833GDF6c.889C>T (p.Leu297=)
c.793+34C>T (n.793+34C>T)
c.874+15C>T (n.874+15C>T)
c.490C>T (p.Leu164=)
 gnomAD v4
8g.96145042G>CCA371751583GDF6c.889C>G (p.Leu297Val)
c.793+34C>G (n.793+34C>G)
c.874+15C>G (n.874+15C>G)
c.490C>G (p.Leu164Val)
 gnomAD v4
8g.96145042G>TCA371751584GDF6c.889C>A (p.Leu297Met)
c.793+34C>A (n.793+34C>A)
c.874+15C>A (n.874+15C>A)
c.490C>A (p.Leu164Met)
 gnomAD v4
8g.96145043C>ACA181485031GDF6c.888G>T (p.Gln296His)
c.793+33G>T (n.793+33G>T)
c.874+14G>T (n.874+14G>T)
c.489G>T (p.Gln163His)
 dbSNP gnomAD v4
8g.96145043C=CA1804261619GDF6c.888G= (p.Gln296=)
c.793+33G= (n.793+33G=)
c.874+14G= (n.874+14G=)
c.489G= (p.Gln163=)
8g.96145043C>GCA371751585GDF6c.888G>C (p.Gln296His)
c.793+33G>C (n.793+33G>C)
c.874+14G>C (n.874+14G>C)
c.489G>C (p.Gln163His)
 dbSNP gnomAD v2 gnomAD v4
8g.96145043C>TCA462454834GDF6c.888G>A (p.Gln296=)
c.793+33G>A (n.793+33G>A)
c.874+14G>A (n.874+14G>A)
c.489G>A (p.Gln163=)
 gnomAD v4
8g.96145044T>ACA371751586GDF6c.887A>T (p.Gln296Leu)
c.793+32A>T (n.793+32A>T)
c.874+13A>T (n.874+13A>T)
c.488A>T (p.Gln163Leu)
8g.96145044T>CCA371751587GDF6c.887A>G (p.Gln296Arg)
c.793+32A>G (n.793+32A>G)
c.874+13A>G (n.874+13A>G)
c.488A>G (p.Gln163Arg)
 dbSNP gnomAD v4
8g.96145044T>GCA371751588GDF6c.887A>C (p.Gln296Pro)
c.793+32A>C (n.793+32A>C)
c.874+13A>C (n.874+13A>C)
c.488A>C (p.Gln163Pro)
 gnomAD v4
8g.96145044T=CA1804261621GDF6c.887A= (p.Gln296=)
c.793+32A= (n.793+32A=)
c.874+13A= (n.874+13A=)
c.488A= (p.Gln163=)
8g.96145045G>ACA371751589GDF6c.886C>T (p.Gln296Ter)
c.793+31C>T (n.793+31C>T)
c.874+12C>T (n.874+12C>T)
c.487C>T (p.Gln163Ter)
 gnomAD v4
8g.96145045G>CCA371751590GDF6c.886C>G (p.Gln296Glu)
c.793+31C>G (n.793+31C>G)
c.874+12C>G (n.874+12C>G)
c.487C>G (p.Gln163Glu)
 gnomAD v4
8g.96145045G>TCA371751591GDF6c.886C>A (p.Gln296Lys)
c.793+31C>A (n.793+31C>A)
c.874+12C>A (n.874+12C>A)
c.487C>A (p.Gln163Lys)
 gnomAD v4
8g.96145045_96145046delCA2687993704GDF6c.885_886del (p.Gln296AlafsTer?)
c.793+30_793+31del (n.793+30_793+31del)
c.874+11_874+12del (n.874+11_874+12del)
c.486_487del (p.Gln163AlafsTer?)
 gnomAD v4
8g.96145046C>ACA371751592GDF6c.885G>T (p.Glu295Asp)
c.793+30G>T (n.793+30G>T)
c.874+11G>T (n.874+11G>T)
c.486G>T (p.Glu162Asp)
 gnomAD v4
8g.96145046C=CA1804261624GDF6c.885G= (p.Glu295=)
c.793+30G= (n.793+30G=)
c.874+11G= (n.874+11G=)
c.486G= (p.Glu162=)
8g.96145046C>GCA371751593GDF6c.885G>C (p.Glu295Asp)
c.793+30G>C (n.793+30G>C)
c.874+11G>C (n.874+11G>C)
c.486G>C (p.Glu162Asp)
8g.96145046C>TCA4815393GDF6c.885G>A (p.Glu295=)
c.793+30G>A (n.793+30G>A)
c.874+11G>A (n.874+11G>A)
c.486G>A (p.Glu162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145047T>ACA371751594GDF6c.884A>T (p.Glu295Val)
c.793+29A>T (n.793+29A>T)
c.874+10A>T (n.874+10A>T)
c.485A>T (p.Glu162Val)
 gnomAD v4 COSMIC
8g.96145047T>CCA371751596GDF6c.884A>G (p.Glu295Gly)
c.793+29A>G (n.793+29A>G)
c.874+10A>G (n.874+10A>G)
c.485A>G (p.Glu162Gly)
 gnomAD v4
8g.96145047T>GCA371751595GDF6c.884A>C (p.Glu295Ala)
c.793+29A>C (n.793+29A>C)
c.874+10A>C (n.874+10A>C)
c.485A>C (p.Glu162Ala)
8g.96145048C>ACA371751597GDF6c.883G>T (p.Glu295Ter)
c.793+28G>T (n.793+28G>T)
c.874+9G>T (n.874+9G>T)
c.484G>T (p.Glu162Ter)
 gnomAD v4
8g.96145048C=CA1804261629GDF6c.883G= (p.Glu295=)
c.793+28G= (n.793+28G=)
c.874+9G= (n.874+9G=)
c.484G= (p.Glu162=)
8g.96145048C>GCA371751598GDF6c.883G>C (p.Glu295Gln)
c.793+28G>C (n.793+28G>C)
c.874+9G>C (n.874+9G>C)
c.484G>C (p.Glu162Gln)
 gnomAD v4
8g.96145048C>TCA371751599GDF6c.883G>A (p.Glu295Lys)
c.793+28G>A (n.793+28G>A)
c.874+9G>A (n.874+9G>A)
c.484G>A (p.Glu162Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145051_96145052delCA2687993705GDF6c.882_883del (p.Glu295AlafsTer?)
c.793+27_793+28del (n.793+27_793+28del)
c.874+8_874+9del (n.874+8_874+9del)
c.483_484del (p.Glu162AlafsTer?)
 gnomAD v4
8g.96145049G>ACA462454867GDF6c.882C>T (p.Arg294=)
c.793+27C>T (n.793+27C>T)
c.874+8C>T (n.874+8C>T)
c.483C>T (p.Arg161=)
 gnomAD v4
8g.96145049G>CCA462454868GDF6c.882C>G (p.Arg294=)
c.793+27C>G (n.793+27C>G)
c.874+8C>G (n.874+8C>G)
c.483C>G (p.Arg161=)
 gnomAD v4
8g.96145049G>TCA462454869GDF6c.882C>A (p.Arg294=)
c.793+27C>A (n.793+27C>A)
c.874+8C>A (n.874+8C>A)
c.483C>A (p.Arg161=)
 gnomAD v4
8g.96145050C>ACA371751600GDF6c.881G>T (p.Arg294Leu)
c.793+26G>T (n.793+26G>T)
c.874+7G>T (n.874+7G>T)
c.482G>T (p.Arg161Leu)
 gnomAD v4
8g.96145050C>GCA371751601GDF6c.881G>C (p.Arg294Pro)
c.793+26G>C (n.793+26G>C)
c.874+7G>C (n.874+7G>C)
c.482G>C (p.Arg161Pro)
8g.96145050C>TCA371751602GDF6c.881G>A (p.Arg294His)
c.793+26G>A (n.793+26G>A)
c.874+7G>A (n.874+7G>A)
c.482G>A (p.Arg161His)
 ClinVar dbSNP gnomAD v4
8g.96145051G>ACA371751603GDF6c.880C>T (p.Arg294Cys)
c.793+25C>T (n.793+25C>T)
c.874+6C>T (n.874+6C>T)
c.481C>T (p.Arg161Cys)
 gnomAD v4
8g.96145051G>CCA4815394GDF6c.880C>G (p.Arg294Gly)
c.793+25C>G (n.793+25C>G)
c.874+6C>G (n.874+6C>G)
c.481C>G (p.Arg161Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145051G=CA1804261634GDF6c.880C= (p.Arg294=)
c.793+25C= (n.793+25C=)
c.874+6C= (n.874+6C=)
c.481C= (p.Arg161=)
8g.96145051G>TCA371751604GDF6c.880C>A (p.Arg294Ser)
c.793+25C>A (n.793+25C>A)
c.874+6C>A (n.874+6C>A)
c.481C>A (p.Arg161Ser)
 gnomAD v4
8g.96145052C>ACA371751607GDF6c.879G>T (p.Met293Ile)
c.793+24G>T (n.793+24G>T)
c.874+5G>T (n.874+5G>T)
c.480G>T (p.Met160Ile)
 gnomAD v4
8g.96145052C=CA1804261639GDF6c.879G= (p.Met293=)
c.793+24G= (n.793+24G=)
c.874+5G= (n.874+5G=)
c.480G= (p.Met160=)
8g.96145052C>GCA371751606GDF6c.879G>C (p.Met293Ile)
c.793+24G>C (n.793+24G>C)
c.874+5G>C (n.874+5G>C)
c.480G>C (p.Met160Ile)
 dbSNP
8g.96145052C>TCA371751605GDF6c.879G>A (p.Met293Ile)
c.793+24G>A (n.793+24G>A)
c.874+5G>A (n.874+5G>A)
c.480G>A (p.Met160Ile)
 gnomAD v4
8g.96145053A=CA1804261642GDF6c.878T= (p.Met293=)
c.793+23T= (n.793+23T=)
c.874+4T= (n.874+4T=)
c.479T= (p.Met160=)
8g.96145053A>CCA371751608GDF6c.878T>G (p.Met293Arg)
c.793+23T>G (n.793+23T>G)
c.874+4T>G (n.874+4T>G)
c.479T>G (p.Met160Arg)
8g.96145053A>GCA4815395GDF6c.878T>C (p.Met293Thr)
c.793+23T>C (n.793+23T>C)
c.874+4T>C (n.874+4T>C)
c.479T>C (p.Met160Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145053A>TCA371751609GDF6c.878T>A (p.Met293Lys)
c.793+23T>A (n.793+23T>A)
c.874+4T>A (n.874+4T>A)
c.479T>A (p.Met160Lys)
8g.96145054T>ACA371751610GDF6c.877A>T (p.Met293Leu)
c.793+22A>T (n.793+22A>T)
c.874+3A>T (n.874+3A>T)
c.478A>T (p.Met160Leu)
 gnomAD v4
8g.96145054T>CCA371751611GDF6c.877A>G (p.Met293Val)
c.793+22A>G (n.793+22A>G)
c.874+3A>G (n.874+3A>G)
c.478A>G (p.Met160Val)
 gnomAD v4
8g.96145054T>GCA371751612GDF6c.877A>C (p.Met293Leu)
c.793+22A>C (n.793+22A>C)
c.874+3A>C (n.874+3A>C)
c.478A>C (p.Met160Leu)
 gnomAD v4
8g.96145057_96145058delCA2781376671GDF6c.876_877del (p.Glu292AspfsTer?)
c.793+21_793+22del (n.793+21_793+22del)
c.874+2_874+3del
c.477_478del (p.Glu159AspfsTer?)
8g.96145055C>ACA371751613GDF6c.876G>T (p.Glu292Asp)
c.793+21G>T (n.793+21G>T)
c.874+2G>T (n.874+2G>T)
c.477G>T (p.Glu159Asp)
 gnomAD v4
8g.96145055C=CA1804261647GDF6c.876G= (p.Glu292=)
c.793+21G= (n.793+21G=)
c.874+2G= (n.874+2G=)
c.477G= (p.Glu159=)
8g.96145055C>GCA371751614GDF6c.876G>C (p.Glu292Asp)
c.793+21G>C (n.793+21G>C)
c.874+2G>C (n.874+2G>C)
c.477G>C (p.Glu159Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145055C>TCA371751615GDF6c.876G>A (p.Glu292=)
c.793+21G>A (n.793+21G>A)
c.874+2G>A (n.874+2G>A)
c.477G>A (p.Glu159=)
 gnomAD v4
8g.96145055_96145056insCAGGCCCGACGCTCCCACTGCTGATTGGTGGCCAGGACCGTGGTGTAACCCGCCTCGCGCAGGTCCCTCACCAGCTGCCAGGCCACGGGGCA913142007GDF6c.875_876insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (p.Glu292delinsAspProValAlaTrpGlnLeuValArgAspLeuArgGluAlaGlyTyrThrThrValLeuAlaThrAsnGlnGlnTrpGluArgArgAlaTrp)
c.793+20_793+21insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (n.793+20_793+21insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG)
c.874+1_874+2insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (n.874+1_874+2insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG)
c.476_477insCCCCGTGGCCTGGCAGCTGGTGAGGGACCTGCGCGAGGCGGGTTACACCACGGTCCTGGCCACCAATCAGCAGTGGGAGCGTCGGGCCTG (p.Glu159delinsAspProValAlaTrpGlnLeuValArgAspLeuArgGluAlaGlyTyrThrThrValLeuAlaThrAsnGlnGlnTrpGluArgArgAlaTrp)
8g.96145056T>ACA371751616GDF6c.875A>T (p.Glu292Val)
c.793+20A>T (n.793+20A>T)
c.874+1A>T (n.874+1A>T)
c.476A>T (p.Glu159Val)
 gnomAD v4
8g.96145056T>CCA371751617GDF6c.875A>G (p.Glu292Gly)
c.793+20A>G (n.793+20A>G)
c.874+1A>G (n.874+1A>G)
c.476A>G (p.Glu159Gly)
 gnomAD v4
8g.96145056T>GCA371751618GDF6c.875A>C (p.Glu292Ala)
c.793+20A>C (n.793+20A>C)
c.874+1A>C (n.874+1A>C)
c.476A>C (p.Glu159Ala)
8g.96145057C>ACA371751621GDF6c.874G>T (p.Glu292Ter)
c.793+19G>T (n.793+19G>T)
c.874G>T (p.Ala292Ser)
c.475G>T (p.Glu159Ter)
 gnomAD v4
8g.96145057C>GCA371751620GDF6c.874G>C (p.Glu292Gln)
c.793+19G>C (n.793+19G>C)
c.874G>C (p.Ala292Pro)
c.475G>C (p.Glu159Gln)
 gnomAD v4
8g.96145057C>TCA371751619GDF6c.874G>A (p.Glu292Lys)
c.793+19G>A (n.793+19G>A)
c.874G>A (p.Ala292Thr)
c.475G>A (p.Glu159Lys)
 gnomAD v4
8g.96145058T>ACA462454887GDF6c.873A>T (p.Ala291=)
c.793+18A>T (n.793+18A>T)
c.474A>T (p.Ala158=)
 gnomAD v4
8g.96145058T>CCA462454894GDF6c.873A>G (p.Ala291=)
c.793+18A>G (n.793+18A>G)
c.474A>G (p.Ala158=)
 gnomAD v4
8g.96145058T>GCA462454900GDF6c.873A>C (p.Ala291=)
c.793+18A>C (n.793+18A>C)
c.474A>C (p.Ala158=)
8g.96145059G>ACA371751622GDF6c.872C>T (p.Ala291Val)
c.793+17C>T (n.793+17C>T)
c.473C>T (p.Ala158Val)
 gnomAD v4
8g.96145059G>CCA371751623GDF6c.872C>G (p.Ala291Gly)
c.793+17C>G (n.793+17C>G)
c.473C>G (p.Ala158Gly)
8g.96145059G=CA1804261651GDF6c.872C= (p.Ala291=)
c.793+17C= (n.793+17C=)
c.473C= (p.Ala158=)
8g.96145059G>TCA371751624GDF6c.872C>A (p.Ala291Glu)
c.793+17C>A (n.793+17C>A)
c.473C>A (p.Ala158Glu)
 dbSNP gnomAD v4
8g.96145060C>ACA371751625GDF6c.871G>T (p.Ala291Ser)
c.793+16G>T (n.793+16G>T)
c.472G>T (p.Ala158Ser)
 gnomAD v4
8g.96145060C>GCA371751626GDF6c.871G>C (p.Ala291Pro)
c.793+16G>C (n.793+16G>C)
c.472G>C (p.Ala158Pro)
 gnomAD v4
8g.96145060C>TCA371751627GDF6c.871G>A (p.Ala291Thr)
c.793+16G>A (n.793+16G>A)
c.472G>A (p.Ala158Thr)
 gnomAD v4
8g.96145061delCA2687993706GDF6c.870del (p.Phe290LeufsTer?)
c.793+15del (n.793+15del)
c.471del (p.Phe157LeufsTer?)
 gnomAD v4
8g.96145061G>ACA4815396GDF6c.870C>T (p.Phe290=)
c.793+15C>T (n.793+15C>T)
c.471C>T (p.Phe157=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96145061G>CCA4815397GDF6c.870C>G (p.Phe290Leu)
c.793+15C>G (n.793+15C>G)
c.471C>G (p.Phe157Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145061G=CA1804261665GDF6c.870C= (p.Phe290=)
c.793+15C= (n.793+15C=)
c.471C= (p.Phe157=)
8g.96145061G>TCA371751628GDF6c.870C>A (p.Phe290Leu)
c.793+15C>A (n.793+15C>A)
c.471C>A (p.Phe157Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.96145062A>CCA371751629GDF6c.869T>G (p.Phe290Cys)
c.793+14T>G (n.793+14T>G)
c.470T>G (p.Phe157Cys)
8g.96145062A>GCA371751630GDF6c.869T>C (p.Phe290Ser)
c.793+14T>C (n.793+14T>C)
c.470T>C (p.Phe157Ser)
 gnomAD v4
8g.96145062A>TCA371751631GDF6c.869T>A (p.Phe290Tyr)
c.793+14T>A (n.793+14T>A)
c.470T>A (p.Phe157Tyr)
 gnomAD v4
8g.96145063A>CCA371751634GDF6c.868T>G (p.Phe290Val)
c.793+13T>G (n.793+13T>G)
c.469T>G (p.Phe157Val)
8g.96145063A>GCA371751633GDF6c.868T>C (p.Phe290Leu)
c.793+13T>C (n.793+13T>C)
c.469T>C (p.Phe157Leu)
 gnomAD v4
8g.96145063A>TCA371751632GDF6c.868T>A (p.Phe290Ile)
c.793+13T>A (n.793+13T>A)
c.469T>A (p.Phe157Ile)
 gnomAD v4
8g.96145064C>ACA462454928GDF6c.867G>T (p.Leu289=)
c.793+12G>T (n.793+12G>T)
c.468G>T (p.Leu156=)
 gnomAD v4
8g.96145064C>GCA462454937GDF6c.867G>C (p.Leu289=)
c.793+12G>C (n.793+12G>C)
c.468G>C (p.Leu156=)
8g.96145064C>TCA462454942GDF6c.867G>A (p.Leu289=)
c.793+12G>A (n.793+12G>A)
c.468G>A (p.Leu156=)
 gnomAD v4
8g.96145065A=CA1804261686GDF6c.866T= (p.Leu289=)
c.793+11T= (n.793+11T=)
c.467T= (p.Leu156=)
8g.96145065A>CCA371751635GDF6c.866T>G (p.Leu289Arg)
c.793+11T>G (n.793+11T>G)
c.467T>G (p.Leu156Arg)
 gnomAD v4
8g.96145065A>GCA119556GDF6c.866T>C (p.Leu289Pro)
c.793+11T>C (n.793+11T>C)
c.467T>C (p.Leu156Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145065A>TCA371751636GDF6c.866T>A (p.Leu289Gln)
c.793+11T>A (n.793+11T>A)
c.467T>A (p.Leu156Gln)
8g.96145066G>ACA462454944GDF6c.865C>T (p.Leu289=)
c.793+10C>T (n.793+10C>T)
c.466C>T (p.Leu156=)
 gnomAD v4
8g.96145066G>CCA371751637GDF6c.865C>G (p.Leu289Val)
c.793+10C>G (n.793+10C>G)
c.466C>G (p.Leu156Val)
8g.96145066G>TCA371751638GDF6c.865C>A (p.Leu289Met)
c.793+10C>A (n.793+10C>A)
c.466C>A (p.Leu156Met)
 gnomAD v4
8g.96145067G>ACA462454945GDF6c.864C>T (p.Asn288=)
c.793+9C>T (n.793+9C>T)
c.465C>T (p.Asn155=)
 gnomAD v4
8g.96145067G>CCA371751639GDF6c.864C>G (p.Asn288Lys)
c.793+9C>G (n.793+9C>G)
c.465C>G (p.Asn155Lys)
8g.96145067G>TCA371751640GDF6c.864C>A (p.Asn288Lys)
c.793+9C>A (n.793+9C>A)
c.465C>A (p.Asn155Lys)
 gnomAD v4
8g.96145068T>ACA371751643GDF6c.863A>T (p.Asn288Ile)
c.793+8A>T (n.793+8A>T)
c.464A>T (p.Asn155Ile)
 gnomAD v4
8g.96145068T>CCA371751641GDF6c.863A>G (p.Asn288Ser)
c.793+8A>G (n.793+8A>G)
c.464A>G (p.Asn155Ser)
 gnomAD v4
8g.96145068T>GCA371751642GDF6c.863A>C (p.Asn288Thr)
c.793+8A>C (n.793+8A>C)
c.464A>C (p.Asn155Thr)
8g.96145069T>ACA371751644GDF6c.862A>T (p.Asn288Tyr)
c.793+7A>T (n.793+7A>T)
c.463A>T (p.Asn155Tyr)
 gnomAD v4
8g.96145069T>CCA371751645GDF6c.862A>G (p.Asn288Asp)
c.793+7A>G (n.793+7A>G)
c.463A>G (p.Asn155Asp)
 gnomAD v4
8g.96145069T>GCA371751646GDF6c.862A>C (p.Asn288His)
c.793+7A>C (n.793+7A>C)
c.463A>C (p.Asn155His)
8g.96145070C>ACA371751647GDF6c.861G>T (p.Lys287Asn)
c.793+6G>T (n.793+6G>T)
c.462G>T (p.Lys154Asn)
 gnomAD v4
8g.96145070C>GCA371751648GDF6c.861G>C (p.Lys287Asn)
c.793+6G>C (n.793+6G>C)
c.462G>C (p.Lys154Asn)
8g.96145070C>TCA462454963GDF6c.861G>A (p.Lys287=)
c.793+6G>A (n.793+6G>A)
c.462G>A (p.Lys154=)
 ClinVar gnomAD v4
8g.96145071T>ACA371751649GDF6c.860A>T (p.Lys287Met)
c.793+5A>T (n.793+5A>T)
c.461A>T (p.Lys154Met)
8g.96145071T>CCA371751651GDF6c.860A>G (p.Lys287Arg)
c.793+5A>G (n.793+5A>G)
c.461A>G (p.Lys154Arg)
 gnomAD v4
8g.96145071T>GCA371751650GDF6c.860A>C (p.Lys287Thr)
c.793+5A>C (n.793+5A>C)
c.461A>C (p.Lys154Thr)
8g.96145072T>ACA371751652GDF6c.859A>T (p.Lys287Ter)
c.793+4A>T (n.793+4A>T)
c.460A>T (p.Lys154Ter)
 gnomAD v4
8g.96145072T>CCA371751653GDF6c.859A>G (p.Lys287Glu)
c.793+4A>G (n.793+4A>G)
c.460A>G (p.Lys154Glu)
 gnomAD v4
8g.96145072T>GCA371751654GDF6c.859A>C (p.Lys287Gln)
c.793+4A>C (n.793+4A>C)
c.460A>C (p.Lys154Gln)
8g.96145073G>ACA462454974GDF6c.858C>T (p.Arg286=)
c.793+3C>T (n.793+3C>T)
c.459C>T (p.Arg153=)
 gnomAD v4
8g.96145073G>CCA462454975GDF6c.858C>G (p.Arg286=)
c.793+3C>G (n.793+3C>G)
c.459C>G (p.Arg153=)
8g.96145073G>TCA462454976GDF6c.858C>A (p.Arg286=)
c.793+3C>A (n.793+3C>A)
c.459C>A (p.Arg153=)
 gnomAD v4
8g.96145074C>ACA371751655GDF6c.857G>T (p.Arg286Leu)
c.793+2G>T (n.793+2G>T)
c.458G>T (p.Arg153Leu)
 gnomAD v4
8g.96145074C=CA1804261692GDF6c.857G= (p.Arg286=)
c.793+2G= (n.793+2G=)
c.458G= (p.Arg153=)
8g.96145074C>GCA4815398GDF6c.857G>C (p.Arg286Pro)
c.793+2G>C (n.793+2G>C)
c.458G>C (p.Arg153Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145074C>TCA4815399GDF6c.857G>A (p.Arg286His)
c.793+2G>A (n.793+2G>A)
c.458G>A (p.Arg153His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96145075G>ACA371751656GDF6c.856C>T (p.Arg286Cys)
c.793+1C>T (n.793+1C>T)
c.457C>T (p.Arg153Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.96145075G>CCA371751657GDF6c.856C>G (p.Arg286Gly)
c.793+1C>G (n.793+1C>G)
c.457C>G (p.Arg153Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.96145075G=CA1804261696GDF6c.856C= (p.Arg286=)
c.793+1C= (n.793+1C=)
c.457C= (p.Arg153=)
8g.96145075G>TCA371751658GDF6c.856C>A (p.Arg286Ser)
c.793+1C>A (n.793+1C>A)
c.457C>A (p.Arg153Ser)
 gnomAD v4
8g.96145076C>ACA371751659GDF6c.855G>T (p.Gln285His)
c.793G>T (p.Ala265Ser)
c.456G>T (p.Gln152His)
 gnomAD v4
8g.96145076C>GCA371751660GDF6c.855G>C (p.Gln285His)
c.793G>C (p.Ala265Pro)
c.456G>C (p.Gln152His)
 ClinVar
8g.96145076C>TCA371751661GDF6c.855G>A (p.Gln285=)
c.793G>A (p.Ala265Thr)
c.456G>A (p.Gln152=)
 gnomAD v4
8g.96145077T>ACA371751662GDF6c.854A>T (p.Gln285Leu)
c.792A>T (p.Pro264=)
c.455A>T (p.Gln152Leu)
 ClinVar dbSNP gnomAD v4
8g.96145077T>CCA4815400GDF6c.854A>G (p.Gln285Arg)
c.792A>G (p.Pro264=)
c.455A>G (p.Gln152Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145077T>GCA371751663GDF6c.854A>C (p.Gln285Pro)
c.792A>C (p.Pro264=)
c.455A>C (p.Gln152Pro)
8g.96145077T=CA1804261711GDF6c.854A= (p.Gln285=)
c.792A= (p.Pro264=)
c.455A= (p.Gln152=)
8g.96145078G>ACA371751664GDF6c.853C>T (p.Gln285Ter)
c.791C>T (p.Pro264Leu)
c.454C>T (p.Gln152Ter)
 gnomAD v4
8g.96145078G>CCA371751665GDF6c.853C>G (p.Gln285Glu)
c.791C>G (p.Pro264Arg)
c.454C>G (p.Gln152Glu)
8g.96145078G>TCA371751666GDF6c.853C>A (p.Gln285Lys)
c.791C>A (p.Pro264Gln)
c.454C>A (p.Gln152Lys)
 gnomAD v4
8g.96145080delCA2687993708GDF6c.853del (p.Gln285SerfsTer?)
c.791del (p.Pro264GlnfsTer21)
c.454del (p.Gln152SerfsTer?)
 gnomAD v4
8g.96145079G>ACA371751667GDF6c.852C>T (p.Ser284=)
c.790C>T (p.Pro264Ser)
c.453C>T (p.Ser151=)
 gnomAD v4
8g.96145079G>CCA4815401GDF6c.852C>G (p.Ser284=)
c.790C>G (p.Pro264Ala)
c.453C>G (p.Ser151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145079G=CA1804261719GDF6c.852C= (p.Ser284=)
c.790C= (p.Pro264=)
c.453C= (p.Ser151=)
8g.96145079G>TCA371751668GDF6c.852C>A (p.Ser284=)
c.790C>A (p.Pro264Thr)
c.453C>A (p.Ser151=)
 gnomAD v4
8g.96145080G>ACA371751669GDF6c.851C>T (p.Ser284Phe)
c.789C>T (p.Ile263=)
c.452C>T (p.Ser151Phe)
 gnomAD v4
8g.96145080G>CCA371751670GDF6c.851C>G (p.Ser284Cys)
c.789C>G (p.Ile263Met)
c.452C>G (p.Ser151Cys)
 dbSNP gnomAD v3 gnomAD v4
8g.96145080G=CA1804261733GDF6c.851C= (p.Ser284=)
c.789C= (p.Ile263=)
c.452C= (p.Ser151=)
8g.96145080G>TCA371751671GDF6c.851C>A (p.Ser284Tyr)
c.789C>A (p.Ile263=)
c.452C>A (p.Ser151Tyr)
 gnomAD v4
8g.96145081A=CA1804261738GDF6c.850T= (p.Ser284=)
c.788T= (p.Ile263=)
c.451T= (p.Ser151=)
8g.96145081A>CCA371751672GDF6c.850T>G (p.Ser284Ala)
c.788T>G (p.Ile263Ser)
c.451T>G (p.Ser151Ala)
8g.96145081A>GCA371751673GDF6c.850T>C (p.Ser284Pro)
c.788T>C (p.Ile263Thr)
c.451T>C (p.Ser151Pro)
 dbSNP gnomAD v4
8g.96145081A>TCA371751674GDF6c.850T>A (p.Ser284Thr)
c.788T>A (p.Ile263Asn)
c.451T>A (p.Ser151Thr)
8g.96145082T>ACA371751677GDF6c.849A>T (p.Arg283Ser)
c.787A>T (p.Ile263Phe)
c.450A>T (p.Arg150Ser)
 gnomAD v4
8g.96145082T>CCA371751675GDF6c.849A>G (p.Arg283=)
c.787A>G (p.Ile263Val)
c.450A>G (p.Arg150=)
 gnomAD v4
8g.96145082T>GCA371751676GDF6c.849A>C (p.Arg283Ser)
c.787A>C (p.Ile263Leu)
c.450A>C (p.Arg150Ser)
8g.96145083C>ACA371751678GDF6c.848G>T (p.Arg283Ile)
c.786G>T (p.Gln262His)
c.449G>T (p.Arg150Ile)
 gnomAD v4
8g.96145083C=CA1804261743GDF6c.848G= (p.Arg283=)
c.786G= (p.Gln262=)
c.449G= (p.Arg150=)
8g.96145083C>GCA371751679GDF6c.848G>C (p.Arg283Thr)
c.786G>C (p.Gln262His)
c.449G>C (p.Arg150Thr)
 gnomAD v4
8g.96145083C>TCA371751680GDF6c.848G>A (p.Arg283Lys)
c.786G>A (p.Gln262=)
c.449G>A (p.Arg150Lys)
 dbSNP gnomAD v4
8g.96145084T>ACA371751681GDF6c.847A>T (p.Arg283Ter)
c.785A>T (p.Gln262Leu)
c.448A>T (p.Arg150Ter)
 gnomAD v4
8g.96145084T>CCA371751682GDF6c.847A>G (p.Arg283Gly)
c.785A>G (p.Gln262Arg)
c.448A>G (p.Arg150Gly)
 gnomAD v4
8g.96145084T>GCA371751683GDF6c.847A>C (p.Arg283=)
c.785A>C (p.Gln262Pro)
c.448A>C (p.Arg150=)
8g.96145085G>ACA371751684GDF6c.846C>T (p.Thr282=)
c.784C>T (p.Gln262Ter)
c.447C>T (p.Thr149=)
 gnomAD v4
8g.96145085G>CCA371751685GDF6c.846C>G (p.Thr282=)
c.784C>G (p.Gln262Glu)
c.447C>G (p.Thr149=)
8g.96145085G>TCA371751686GDF6c.846C>A (p.Thr282=)
c.784C>A (p.Gln262Lys)
c.447C>A (p.Thr149=)
 gnomAD v4
8g.96145086delCA2687993714GDF6c.846del (p.Arg283AspfsTer?)
c.784del (p.Gln262ArgfsTer23)
c.447del (p.Arg150AspfsTer?)
 gnomAD v4

Number of alleles fetched