Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60836105_60836108delCA10602496CHD7c.3811_3814del (p.Glu1271HisfsTer14)
c.1717-26124_1717-26121del (n.1717-26124_1717-26121del)
c.1798_1801del (p.Glu600HisfsTer14)
c.1348_1351del (p.Glu450HisfsTer14)
c.556_559del (p.Glu186HisfsTer14)
 ClinVar dbSNP
8g.60836108A=CA1788112354CHD7c.3814A= (p.Thr1272=)
c.1717-26121A= (n.1717-26121A=)
c.1801A= (p.Thr601=)
c.1351A= (p.Thr451=)
c.559A= (p.Thr187=)
8g.60836108A>CCA371316165CHD7c.3814A>C (p.Thr1272Pro)
c.1717-26121A>C (n.1717-26121A>C)
c.1801A>C (p.Thr601Pro)
c.1351A>C (p.Thr451Pro)
c.559A>C (p.Thr187Pro)
8g.60836108A>GCA371316167CHD7c.3814A>G (p.Thr1272Ala)
c.1717-26121A>G (n.1717-26121A>G)
c.1801A>G (p.Thr601Ala)
c.1351A>G (p.Thr451Ala)
c.559A>G (p.Thr187Ala)
 dbSNP
8g.60836108A>TCA371316166CHD7c.3814A>T (p.Thr1272Ser)
c.1717-26121A>T (n.1717-26121A>T)
c.1801A>T (p.Thr601Ser)
c.1351A>T (p.Thr451Ser)
c.559A>T (p.Thr187Ser)
8g.60836113_60836114delCA2695201477CHD7c.3819_3820del (p.His1273GlnfsTer23)
c.1717-26116_1717-26115del (n.1717-26116_1717-26115del)
c.1806_1807del (p.His602GlnfsTer23)
c.1356_1357del (p.His452GlnfsTer23)
c.564_565del (p.His188GlnfsTer23)
 ClinVar
8g.60836109C>ACA371316168CHD7c.3815C>A (p.Thr1272Lys)
c.1717-26120C>A (n.1717-26120C>A)
c.1802C>A (p.Thr601Lys)
c.1352C>A (p.Thr451Lys)
c.560C>A (p.Thr187Lys)
8g.60836109C>GCA371316169CHD7c.3815C>G (p.Thr1272Arg)
c.1717-26120C>G (n.1717-26120C>G)
c.1802C>G (p.Thr601Arg)
c.1352C>G (p.Thr451Arg)
c.560C>G (p.Thr187Arg)
8g.60836109C>TCA371316170CHD7c.3815C>T (p.Thr1272Ile)
c.1717-26120C>T (n.1717-26120C>T)
c.1802C>T (p.Thr601Ile)
c.1352C>T (p.Thr451Ile)
c.560C>T (p.Thr187Ile)
8g.60836110A>CCA460846683CHD7c.3816A>C (p.Thr1272=)
c.1717-26119A>C (n.1717-26119A>C)
c.1803A>C (p.Thr601=)
c.1353A>C (p.Thr451=)
c.561A>C (p.Thr187=)
8g.60836110A>GCA460846684CHD7c.3816A>G (p.Thr1272=)
c.1717-26119A>G (n.1717-26119A>G)
c.1803A>G (p.Thr601=)
c.1353A>G (p.Thr451=)
c.561A>G (p.Thr187=)
 gnomAD v4
8g.60836110A>TCA460846685CHD7c.3816A>T (p.Thr1272=)
c.1717-26119A>T (n.1717-26119A>T)
c.1803A>T (p.Thr601=)
c.1353A>T (p.Thr451=)
c.561A>T (p.Thr187=)
8g.60836111C>ACA371316171CHD7c.3817C>A (p.His1273Asn)
c.1717-26118C>A (n.1717-26118C>A)
c.1804C>A (p.His602Asn)
c.1354C>A (p.His452Asn)
c.562C>A (p.His188Asn)
8g.60836111C>GCA371316172CHD7c.3817C>G (p.His1273Asp)
c.1717-26118C>G (n.1717-26118C>G)
c.1804C>G (p.His602Asp)
c.1354C>G (p.His452Asp)
c.562C>G (p.His188Asp)
8g.60836111C>TCA371316173CHD7c.3817C>T (p.His1273Tyr)
c.1717-26118C>T (n.1717-26118C>T)
c.1804C>T (p.His602Tyr)
c.1354C>T (p.His452Tyr)
c.562C>T (p.His188Tyr)
8g.60836112delCA2740095053CHD7c.3818del (p.His1273ProfsTer13)
c.1717-26117del (n.1717-26117del)
c.1805del (p.His602ProfsTer13)
c.1355del (p.His452ProfsTer13)
c.563del (p.His188ProfsTer13)
 ClinVar
8g.60836112A>CCA371316176CHD7c.3818A>C (p.His1273Pro)
c.1717-26117A>C (n.1717-26117A>C)
c.1805A>C (p.His602Pro)
c.1355A>C (p.His452Pro)
c.563A>C (p.His188Pro)
8g.60836112A>GCA371316174CHD7c.3818A>G (p.His1273Arg)
c.1717-26117A>G (n.1717-26117A>G)
c.1805A>G (p.His602Arg)
c.1355A>G (p.His452Arg)
c.563A>G (p.His188Arg)
8g.60836112A>TCA371316175CHD7c.3818A>T (p.His1273Leu)
c.1717-26117A>T (n.1717-26117A>T)
c.1805A>T (p.His602Leu)
c.1355A>T (p.His452Leu)
c.563A>T (p.His188Leu)
8g.60836113C>ACA371316177CHD7c.3819C>A (p.His1273Gln)
c.1717-26116C>A (n.1717-26116C>A)
c.1806C>A (p.His602Gln)
c.1356C>A (p.His452Gln)
c.564C>A (p.His188Gln)
8g.60836113C>GCA371316178CHD7c.3819C>G (p.His1273Gln)
c.1717-26116C>G (n.1717-26116C>G)
c.1806C>G (p.His602Gln)
c.1356C>G (p.His452Gln)
c.564C>G (p.His188Gln)
8g.60836113C>TCA460846687CHD7c.3819C>T (p.His1273=)
c.1717-26116C>T (n.1717-26116C>T)
c.1806C>T (p.His602=)
c.1356C>T (p.His452=)
c.564C>T (p.His188=)
 gnomAD v4
8g.60836114A=CA1788112358CHD7c.3820A= (p.Asn1274=)
c.1717-26115A= (n.1717-26115A=)
c.1807A= (p.Asn603=)
c.1357A= (p.Asn453=)
c.565A= (p.Asn189=)
8g.60836114A>CCA371316179CHD7c.3820A>C (p.Asn1274His)
c.1717-26115A>C (n.1717-26115A>C)
c.1807A>C (p.Asn603His)
c.1357A>C (p.Asn453His)
c.565A>C (p.Asn189His)
 ClinVar dbSNP gnomAD v4
8g.60836114A>GCA371316180CHD7c.3820A>G (p.Asn1274Asp)
c.1717-26115A>G (n.1717-26115A>G)
c.1807A>G (p.Asn603Asp)
c.1357A>G (p.Asn453Asp)
c.565A>G (p.Asn189Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.60836114A>TCA371316181CHD7c.3820A>T (p.Asn1274Tyr)
c.1717-26115A>T (n.1717-26115A>T)
c.1807A>T (p.Asn603Tyr)
c.1357A>T (p.Asn453Tyr)
c.565A>T (p.Asn189Tyr)
8g.60836115A=CA1788112361CHD7c.3821A= (p.Asn1274=)
c.1717-26114A= (n.1717-26114A=)
c.1808A= (p.Asn603=)
c.1358A= (p.Asn453=)
c.566A= (p.Asn189=)
8g.60836115A>CCA371316182CHD7c.3821A>C (p.Asn1274Thr)
c.1717-26114A>C (n.1717-26114A>C)
c.1808A>C (p.Asn603Thr)
c.1358A>C (p.Asn453Thr)
c.566A>C (p.Asn189Thr)
8g.60836115A>GCA371316184CHD7c.3821A>G (p.Asn1274Ser)
c.1717-26114A>G (n.1717-26114A>G)
c.1808A>G (p.Asn603Ser)
c.1358A>G (p.Asn453Ser)
c.566A>G (p.Asn189Ser)
 ClinVar dbSNP gnomAD v4
8g.60836115A>TCA371316183CHD7c.3821A>T (p.Asn1274Ile)
c.1717-26114A>T (n.1717-26114A>T)
c.1808A>T (p.Asn603Ile)
c.1358A>T (p.Asn453Ile)
c.566A>T (p.Asn189Ile)
8g.60836116T>ACA371316185CHD7c.3822T>A (p.Asn1274Lys)
c.1717-26113T>A (n.1717-26113T>A)
c.1809T>A (p.Asn603Lys)
c.1359T>A (p.Asn453Lys)
c.567T>A (p.Asn189Lys)
8g.60836116T>CCA460846689CHD7c.3822T>C (p.Asn1274=)
c.1717-26113T>C (n.1717-26113T>C)
c.1809T>C (p.Asn603=)
c.1359T>C (p.Asn453=)
c.567T>C (p.Asn189=)
 gnomAD v4
8g.60836116T>GCA4760032CHD7c.3822T>G (p.Asn1274Lys)
c.1717-26113T>G (n.1717-26113T>G)
c.1809T>G (p.Asn603Lys)
c.1359T>G (p.Asn453Lys)
c.567T>G (p.Asn189Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60836116T=CA1788112363CHD7c.3822T= (p.Asn1274=)
c.1717-26113T= (n.1717-26113T=)
c.1809T= (p.Asn603=)
c.1359T= (p.Asn453=)
c.567T= (p.Asn189=)
8g.60836117G>ACA371316186CHD7c.3823G>A (p.Ala1275Thr)
c.1717-26112G>A (n.1717-26112G>A)
c.1810G>A (p.Ala604Thr)
c.1360G>A (p.Ala454Thr)
c.568G>A (p.Ala190Thr)
8g.60836117G>CCA371316187CHD7c.3823G>C (p.Ala1275Pro)
c.1717-26112G>C (n.1717-26112G>C)
c.1810G>C (p.Ala604Pro)
c.1360G>C (p.Ala454Pro)
c.568G>C (p.Ala190Pro)
8g.60836117G>TCA371316188CHD7c.3823G>T (p.Ala1275Ser)
c.1717-26112G>T (n.1717-26112G>T)
c.1810G>T (p.Ala604Ser)
c.1360G>T (p.Ala454Ser)
c.568G>T (p.Ala190Ser)
8g.60836118C>ACA4760033CHD7c.3824C>A (p.Ala1275Glu)
c.1717-26111C>A (n.1717-26111C>A)
c.1811C>A (p.Ala604Glu)
c.1361C>A (p.Ala454Glu)
c.569C>A (p.Ala190Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60836118C=CA1788112367CHD7c.3824C= (p.Ala1275=)
c.1717-26111C= (n.1717-26111C=)
c.1811C= (p.Ala604=)
c.1361C= (p.Ala454=)
c.569C= (p.Ala190=)
8g.60836118C>GCA371316189CHD7c.3824C>G (p.Ala1275Gly)
c.1717-26111C>G (n.1717-26111C>G)
c.1811C>G (p.Ala604Gly)
c.1361C>G (p.Ala454Gly)
c.569C>G (p.Ala190Gly)
8g.60836118C>TCA371316190CHD7c.3824C>T (p.Ala1275Val)
c.1717-26111C>T (n.1717-26111C>T)
c.1811C>T (p.Ala604Val)
c.1361C>T (p.Ala454Val)
c.569C>T (p.Ala190Val)
 dbSNP
8g.60836119A=CA1788112392CHD7c.3825A= (p.Ala1275=)
c.1717-26110A= (n.1717-26110A=)
c.1812A= (p.Ala604=)
c.1362A= (p.Ala454=)
c.570A= (p.Ala190=)
8g.60836119A>CCA460846694CHD7c.3825A>C (p.Ala1275=)
c.1717-26110A>C (n.1717-26110A>C)
c.1812A>C (p.Ala604=)
c.1362A>C (p.Ala454=)
c.570A>C (p.Ala190=)
 gnomAD v4
8g.60836119A>GCA460846693CHD7c.3825A>G (p.Ala1275=)
c.1717-26110A>G (n.1717-26110A>G)
c.1812A>G (p.Ala604=)
c.1362A>G (p.Ala454=)
c.570A>G (p.Ala190=)
8g.60836119A>TCA460846692CHD7c.3825A>T (p.Ala1275=)
c.1717-26110A>T (n.1717-26110A>T)
c.1812A>T (p.Ala604=)
c.1362A>T (p.Ala454=)
c.570A>T (p.Ala190=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60836120G>ACA371316191CHD7c.3826G>A (p.Glu1276Lys)
c.1717-26109G>A (n.1717-26109G>A)
c.1813G>A (p.Glu605Lys)
c.1363G>A (p.Glu455Lys)
c.571G>A (p.Glu191Lys)
8g.60836120G>CCA371316192CHD7c.3826G>C (p.Glu1276Gln)
c.1717-26109G>C (n.1717-26109G>C)
c.1813G>C (p.Glu605Gln)
c.1363G>C (p.Glu455Gln)
c.571G>C (p.Glu191Gln)
8g.60836120G>TCA371316193CHD7c.3826G>T (p.Glu1276Ter)
c.1717-26109G>T (n.1717-26109G>T)
c.1813G>T (p.Glu605Ter)
c.1363G>T (p.Glu455Ter)
c.571G>T (p.Glu191Ter)
8g.60836121A>CCA371316194CHD7c.3827A>C (p.Glu1276Ala)
c.1717-26108A>C (n.1717-26108A>C)
c.1814A>C (p.Glu605Ala)
c.1364A>C (p.Glu455Ala)
c.572A>C (p.Glu191Ala)
8g.60836121A>GCA371316196CHD7c.3827A>G (p.Glu1276Gly)
c.1717-26108A>G (n.1717-26108A>G)
c.1814A>G (p.Glu605Gly)
c.1364A>G (p.Glu455Gly)
c.572A>G (p.Glu191Gly)
 gnomAD v4
8g.60836121A>TCA371316195CHD7c.3827A>T (p.Glu1276Val)
c.1717-26108A>T (n.1717-26108A>T)
c.1814A>T (p.Glu605Val)
c.1364A>T (p.Glu455Val)
c.572A>T (p.Glu191Val)
8g.60836122G>ACA460846698CHD7c.3828G>A (p.Glu1276=)
c.1717-26107G>A (n.1717-26107G>A)
c.1815G>A (p.Glu605=)
c.1365G>A (p.Glu455=)
c.573G>A (p.Glu191=)
 dbSNP gnomAD v2 gnomAD v4
8g.60836122G>CCA371316197CHD7c.3828G>C (p.Glu1276Asp)
c.1717-26107G>C (n.1717-26107G>C)
c.1815G>C (p.Glu605Asp)
c.1365G>C (p.Glu455Asp)
c.573G>C (p.Glu191Asp)
8g.60836122G=CA1788112396CHD7c.3828G= (p.Glu1276=)
c.1717-26107G= (n.1717-26107G=)
c.1815G= (p.Glu605=)
c.1365G= (p.Glu455=)
c.573G= (p.Glu191=)
8g.60836122G>TCA371316198CHD7c.3828G>T (p.Glu1276Asp)
c.1717-26107G>T (n.1717-26107G>T)
c.1815G>T (p.Glu605Asp)
c.1365G>T (p.Glu455Asp)
c.573G>T (p.Glu191Asp)
8g.60836123T>ACA371316199CHD7c.3829T>A (p.Ser1277Thr)
c.1717-26106T>A (n.1717-26106T>A)
c.1816T>A (p.Ser606Thr)
c.1366T>A (p.Ser456Thr)
c.574T>A (p.Ser192Thr)
8g.60836123T>CCA371316200CHD7c.3829T>C (p.Ser1277Pro)
c.1717-26106T>C (n.1717-26106T>C)
c.1816T>C (p.Ser606Pro)
c.1366T>C (p.Ser456Pro)
c.574T>C (p.Ser192Pro)
8g.60836123T>GCA371316201CHD7c.3829T>G (p.Ser1277Ala)
c.1717-26106T>G (n.1717-26106T>G)
c.1816T>G (p.Ser606Ala)
c.1366T>G (p.Ser456Ala)
c.574T>G (p.Ser192Ala)
8g.60836124C>ACA371316202CHD7c.3830C>A (p.Ser1277Tyr)
c.1717-26105C>A (n.1717-26105C>A)
c.1817C>A (p.Ser606Tyr)
c.1367C>A (p.Ser456Tyr)
c.575C>A (p.Ser192Tyr)
8g.60836124C>GCA371316203CHD7c.3830C>G (p.Ser1277Cys)
c.1717-26105C>G (n.1717-26105C>G)
c.1817C>G (p.Ser606Cys)
c.1367C>G (p.Ser456Cys)
c.575C>G (p.Ser192Cys)
 gnomAD v4
8g.60836124C>TCA371316204CHD7c.3830C>T (p.Ser1277Phe)
c.1717-26105C>T (n.1717-26105C>T)
c.1817C>T (p.Ser606Phe)
c.1367C>T (p.Ser456Phe)
c.575C>T (p.Ser192Phe)
8g.60836125T>ACA460846700CHD7c.3831T>A (p.Ser1277=)
c.1717-26104T>A (n.1717-26104T>A)
c.1818T>A (p.Ser606=)
c.1368T>A (p.Ser456=)
c.576T>A (p.Ser192=)
8g.60836125T>CCA460846703CHD7c.3831T>C (p.Ser1277=)
c.1717-26104T>C (n.1717-26104T>C)
c.1818T>C (p.Ser606=)
c.1368T>C (p.Ser456=)
c.576T>C (p.Ser192=)
 gnomAD v4
8g.60836125T>GCA460846701CHD7c.3831T>G (p.Ser1277=)
c.1717-26104T>G (n.1717-26104T>G)
c.1818T>G (p.Ser606=)
c.1368T>G (p.Ser456=)
c.576T>G (p.Ser192=)
8g.60836126C>ACA371316205CHD7c.3832C>A (p.Pro1278Thr)
c.1717-26103C>A (n.1717-26103C>A)
c.1819C>A (p.Pro607Thr)
c.1369C>A (p.Pro457Thr)
c.577C>A (p.Pro193Thr)
8g.60836126C=CA1788112398CHD7c.3832C= (p.Pro1278=)
c.1717-26103C= (n.1717-26103C=)
c.1819C= (p.Pro607=)
c.1369C= (p.Pro457=)
c.577C= (p.Pro193=)
8g.60836126C>GCA371316206CHD7c.3832C>G (p.Pro1278Ala)
c.1717-26103C>G (n.1717-26103C>G)
c.1819C>G (p.Pro607Ala)
c.1369C>G (p.Pro457Ala)
c.577C>G (p.Pro193Ala)
 dbSNP
8g.60836126C>TCA371316207CHD7c.3832C>T (p.Pro1278Ser)
c.1717-26103C>T (n.1717-26103C>T)
c.1819C>T (p.Pro607Ser)
c.1369C>T (p.Pro457Ser)
c.577C>T (p.Pro193Ser)
 gnomAD v4
8g.60836127C>ACA371316210CHD7c.3833C>A (p.Pro1278Gln)
c.1717-26102C>A (n.1717-26102C>A)
c.1820C>A (p.Pro607Gln)
c.1370C>A (p.Pro457Gln)
c.578C>A (p.Pro193Gln)
8g.60836127C>GCA371316208CHD7c.3833C>G (p.Pro1278Arg)
c.1717-26102C>G (n.1717-26102C>G)
c.1820C>G (p.Pro607Arg)
c.1370C>G (p.Pro457Arg)
c.578C>G (p.Pro193Arg)
8g.60836127C>TCA371316209CHD7c.3833C>T (p.Pro1278Leu)
c.1717-26102C>T (n.1717-26102C>T)
c.1820C>T (p.Pro607Leu)
c.1370C>T (p.Pro457Leu)
c.578C>T (p.Pro193Leu)
8g.60836128A=CA1788112403CHD7c.3834A= (p.Pro1278=)
c.1717-26101A= (n.1717-26101A=)
c.1821A= (p.Pro607=)
c.1371A= (p.Pro457=)
c.579A= (p.Pro193=)
8g.60836128A>CCA460846704CHD7c.3834A>C (p.Pro1278=)
c.1717-26101A>C (n.1717-26101A>C)
c.1821A>C (p.Pro607=)
c.1371A>C (p.Pro457=)
c.579A>C (p.Pro193=)
8g.60836128A>GCA460846706CHD7c.3834A>G (p.Pro1278=)
c.1717-26101A>G (n.1717-26101A>G)
c.1821A>G (p.Pro607=)
c.1371A>G (p.Pro457=)
c.579A>G (p.Pro193=)
 dbSNP gnomAD v2 gnomAD v4
8g.60836128A>TCA460846707CHD7c.3834A>T (p.Pro1278=)
c.1717-26101A>T (n.1717-26101A>T)
c.1821A>T (p.Pro607=)
c.1371A>T (p.Pro457=)
c.579A>T (p.Pro193=)
8g.60836129G>ACA350584CHD7c.3835G>A (p.Asp1279Asn)
c.1717-26100G>A (n.1717-26100G>A)
c.1822G>A (p.Asp608Asn)
c.1372G>A (p.Asp458Asn)
c.580G>A (p.Asp194Asn)
 ClinVar dbSNP
8g.60836129G>CCA371316211CHD7c.3835G>C (p.Asp1279His)
c.1717-26100G>C (n.1717-26100G>C)
c.1822G>C (p.Asp608His)
c.1372G>C (p.Asp458His)
c.580G>C (p.Asp194His)
8g.60836129G=CA1788112418CHD7c.3835G= (p.Asp1279=)
c.1717-26100G= (n.1717-26100G=)
c.1822G= (p.Asp608=)
c.1372G= (p.Asp458=)
c.580G= (p.Asp194=)
8g.60836129G>TCA371316212CHD7c.3835G>T (p.Asp1279Tyr)
c.1717-26100G>T (n.1717-26100G>T)
c.1822G>T (p.Asp608Tyr)
c.1372G>T (p.Asp458Tyr)
c.580G>T (p.Asp194Tyr)
8g.60836130A=CA1788112421CHD7c.3836A= (p.Asp1279=)
c.1717-26099A= (n.1717-26099A=)
c.1823A= (p.Asp608=)
c.1373A= (p.Asp458=)
c.581A= (p.Asp194=)
8g.60836130A>CCA371316213CHD7c.3836A>C (p.Asp1279Ala)
c.1717-26099A>C (n.1717-26099A>C)
c.1823A>C (p.Asp608Ala)
c.1373A>C (p.Asp458Ala)
c.581A>C (p.Asp194Ala)
8g.60836130A>GCA177343713CHD7c.3836A>G (p.Asp1279Gly)
c.1717-26099A>G (n.1717-26099A>G)
c.1823A>G (p.Asp608Gly)
c.1373A>G (p.Asp458Gly)
c.581A>G (p.Asp194Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60836130A>TCA371316214CHD7c.3836A>T (p.Asp1279Val)
c.1717-26099A>T (n.1717-26099A>T)
c.1823A>T (p.Asp608Val)
c.1373A>T (p.Asp458Val)
c.581A>T (p.Asp194Val)
8g.60836131T>ACA371316215CHD7c.3837T>A (p.Asp1279Glu)
c.1717-26098T>A (n.1717-26098T>A)
c.1824T>A (p.Asp608Glu)
c.1374T>A (p.Asp458Glu)
c.582T>A (p.Asp194Glu)
8g.60836131T>CCA460846709CHD7c.3837T>C (p.Asp1279=)
c.1717-26098T>C (n.1717-26098T>C)
c.1824T>C (p.Asp608=)
c.1374T>C (p.Asp458=)
c.582T>C (p.Asp194=)
8g.60836131T>GCA371316216CHD7c.3837T>G (p.Asp1279Glu)
c.1717-26098T>G (n.1717-26098T>G)
c.1824T>G (p.Asp608Glu)
c.1374T>G (p.Asp458Glu)
c.582T>G (p.Asp194Glu)
8g.60836134delCA2580078456CHD7c.3840del (p.Gln1281SerfsTer5)
c.1717-26095del (n.1717-26095del)
c.1827del (p.Gln610SerfsTer5)
c.1377del (p.Gln460SerfsTer5)
c.585del (p.Gln196SerfsTer5)
 ClinVar
8g.60836133_60836134delCA2580078457CHD7c.3839_3840del (p.Phe1280SerfsTer16)
c.1717-26096_1717-26095del (n.1717-26096_1717-26095del)
c.1826_1827del (p.Phe609SerfsTer16)
c.1376_1377del (p.Phe459SerfsTer16)
c.584_585del (p.Phe195SerfsTer16)
 ClinVar
8g.60836132T>ACA371316217CHD7c.3838T>A (p.Phe1280Ile)
c.1717-26097T>A (n.1717-26097T>A)
c.1825T>A (p.Phe609Ile)
c.1375T>A (p.Phe459Ile)
c.583T>A (p.Phe195Ile)
 gnomAD v4
8g.60836132T>CCA371316218CHD7c.3838T>C (p.Phe1280Leu)
c.1717-26097T>C (n.1717-26097T>C)
c.1825T>C (p.Phe609Leu)
c.1375T>C (p.Phe459Leu)
c.583T>C (p.Phe195Leu)
8g.60836132T>GCA371316219CHD7c.3838T>G (p.Phe1280Val)
c.1717-26097T>G (n.1717-26097T>G)
c.1825T>G (p.Phe609Val)
c.1375T>G (p.Phe459Val)
c.583T>G (p.Phe195Val)
8g.60836132_60836145delCA2695209682CHD7c.3838_3851del (p.Phe1280AsnfsTer12)
c.1717-26097_1717-26084del (n.1717-26097_1717-26084del)
c.1825_1838del (p.Phe609AsnfsTer12)
c.1375_1388del (p.Phe459AsnfsTer12)
c.583_596del (p.Phe195AsnfsTer12)
8g.60836133T>ACA371316221CHD7c.3839T>A (p.Phe1280Tyr)
c.1717-26096T>A (n.1717-26096T>A)
c.1826T>A (p.Phe609Tyr)
c.1376T>A (p.Phe459Tyr)
c.584T>A (p.Phe195Tyr)
8g.60836133T>CCA371316222CHD7c.3839T>C (p.Phe1280Ser)
c.1717-26096T>C (n.1717-26096T>C)
c.1826T>C (p.Phe609Ser)
c.1376T>C (p.Phe459Ser)
c.584T>C (p.Phe195Ser)
8g.60836133T>GCA371316220CHD7c.3839T>G (p.Phe1280Cys)
c.1717-26096T>G (n.1717-26096T>G)
c.1826T>G (p.Phe609Cys)
c.1376T>G (p.Phe459Cys)
c.584T>G (p.Phe195Cys)
8g.60836134T>ACA371316224CHD7c.3840T>A (p.Phe1280Leu)
c.1717-26095T>A (n.1717-26095T>A)
c.1827T>A (p.Phe609Leu)
c.1377T>A (p.Phe459Leu)
c.585T>A (p.Phe195Leu)
8g.60836134T>CCA460846711CHD7c.3840T>C (p.Phe1280=)
c.1717-26095T>C (n.1717-26095T>C)
c.1827T>C (p.Phe609=)
c.1377T>C (p.Phe459=)
c.585T>C (p.Phe195=)
8g.60836134T>GCA371316223CHD7c.3840T>G (p.Phe1280Leu)
c.1717-26095T>G (n.1717-26095T>G)
c.1827T>G (p.Phe609Leu)
c.1377T>G (p.Phe459Leu)
c.585T>G (p.Phe195Leu)
8g.60836135C>ACA371316225CHD7c.3841C>A (p.Gln1281Lys)
c.1717-26094C>A (n.1717-26094C>A)
c.1828C>A (p.Gln610Lys)
c.1378C>A (p.Gln460Lys)
c.586C>A (p.Gln196Lys)
8g.60836135C>GCA371316226CHD7c.3841C>G (p.Gln1281Glu)
c.1717-26094C>G (n.1717-26094C>G)
c.1828C>G (p.Gln610Glu)
c.1378C>G (p.Gln460Glu)
c.586C>G (p.Gln196Glu)
8g.60836135C>TCA371316227CHD7c.3841C>T (p.Gln1281Ter)
c.1717-26094C>T (n.1717-26094C>T)
c.1828C>T (p.Gln610Ter)
c.1378C>T (p.Gln460Ter)
c.586C>T (p.Gln196Ter)
 COSMIC
8g.60836136A=CA1788112425CHD7c.3842A= (p.Gln1281=)
c.1717-26093A= (n.1717-26093A=)
c.1829A= (p.Gln610=)
c.1379A= (p.Gln460=)
c.587A= (p.Gln196=)
8g.60836136A>CCA4760034CHD7c.3842A>C (p.Gln1281Pro)
c.1717-26093A>C (n.1717-26093A>C)
c.1829A>C (p.Gln610Pro)
c.1379A>C (p.Gln460Pro)
c.587A>C (p.Gln196Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60836136A>GCA371316228CHD7c.3842A>G (p.Gln1281Arg)
c.1717-26093A>G (n.1717-26093A>G)
c.1829A>G (p.Gln610Arg)
c.1379A>G (p.Gln460Arg)
c.587A>G (p.Gln196Arg)
8g.60836136A>TCA371316229CHD7c.3842A>T (p.Gln1281Leu)
c.1717-26093A>T (n.1717-26093A>T)
c.1829A>T (p.Gln610Leu)
c.1379A>T (p.Gln460Leu)
c.587A>T (p.Gln196Leu)
8g.60836137G>ACA460846715CHD7c.3843G>A (p.Gln1281=)
c.1717-26092G>A (n.1717-26092G>A)
c.1830G>A (p.Gln610=)
c.1380G>A (p.Gln460=)
c.588G>A (p.Gln196=)
8g.60836137G>CCA371316230CHD7c.3843G>C (p.Gln1281His)
c.1717-26092G>C (n.1717-26092G>C)
c.1830G>C (p.Gln610His)
c.1380G>C (p.Gln460His)
c.588G>C (p.Gln196His)
 gnomAD v4
8g.60836137G=CA1788112429CHD7c.3843G= (p.Gln1281=)
c.1717-26092G= (n.1717-26092G=)
c.1830G= (p.Gln610=)
c.1380G= (p.Gln460=)
c.588G= (p.Gln196=)
8g.60836137G>TCA4760035CHD7c.3843G>T (p.Gln1281His)
c.1717-26092G>T (n.1717-26092G>T)
c.1830G>T (p.Gln610His)
c.1380G>T (p.Gln460His)
c.588G>T (p.Gln196His)
 ClinVar dbSNP ExAC gnomAD v2
8g.60836138C>ACA371316231CHD7c.3844C>A (p.Leu1282Ile)
c.1717-26091C>A (n.1717-26091C>A)
c.1831C>A (p.Leu611Ile)
c.1381C>A (p.Leu461Ile)
c.589C>A (p.Leu197Ile)
8g.60836138C=CA1788112430CHD7c.3844C= (p.Leu1282=)
c.1717-26091C= (n.1717-26091C=)
c.1831C= (p.Leu611=)
c.1381C= (p.Leu461=)
c.589C= (p.Leu197=)
8g.60836138C>GCA371316232CHD7c.3844C>G (p.Leu1282Val)
c.1717-26091C>G (n.1717-26091C>G)
c.1831C>G (p.Leu611Val)
c.1381C>G (p.Leu461Val)
c.589C>G (p.Leu197Val)
8g.60836138C>TCA4760036CHD7c.3844C>T (p.Leu1282Phe)
c.1717-26091C>T (n.1717-26091C>T)
c.1831C>T (p.Leu611Phe)
c.1381C>T (p.Leu461Phe)
c.589C>T (p.Leu197Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60836139T>ACA371316235CHD7c.3845T>A (p.Leu1282His)
c.1717-26090T>A (n.1717-26090T>A)
c.1832T>A (p.Leu611His)
c.1382T>A (p.Leu461His)
c.590T>A (p.Leu197His)
8g.60836139T>CCA371316233CHD7c.3845T>C (p.Leu1282Pro)
c.1717-26090T>C (n.1717-26090T>C)
c.1832T>C (p.Leu611Pro)
c.1382T>C (p.Leu461Pro)
c.590T>C (p.Leu197Pro)
8g.60836139T>GCA371316234CHD7c.3845T>G (p.Leu1282Arg)
c.1717-26090T>G (n.1717-26090T>G)
c.1832T>G (p.Leu611Arg)
c.1382T>G (p.Leu461Arg)
c.590T>G (p.Leu197Arg)
8g.60836140C>ACA460846717CHD7c.3846C>A (p.Leu1282=)
c.1717-26089C>A (n.1717-26089C>A)
c.1833C>A (p.Leu611=)
c.1383C>A (p.Leu461=)
c.591C>A (p.Leu197=)
8g.60836140C=CA1788112431CHD7c.3846C= (p.Leu1282=)
c.1717-26089C= (n.1717-26089C=)
c.1833C= (p.Leu611=)
c.1383C= (p.Leu461=)
c.591C= (p.Leu197=)
8g.60836140C>GCA460846718CHD7c.3846C>G (p.Leu1282=)
c.1717-26089C>G (n.1717-26089C>G)
c.1833C>G (p.Leu611=)
c.1383C>G (p.Leu461=)
c.591C>G (p.Leu197=)
 dbSNP gnomAD v2 gnomAD v4
8g.60836140C>TCA460846719CHD7c.3846C>T (p.Leu1282=)
c.1717-26089C>T (n.1717-26089C>T)
c.1833C>T (p.Leu611=)
c.1383C>T (p.Leu461=)
c.591C>T (p.Leu197=)
 dbSNP gnomAD v4
8g.60836141C>ACA371316236CHD7c.3847C>A (p.Gln1283Lys)
c.1717-26088C>A (n.1717-26088C>A)
c.1834C>A (p.Gln612Lys)
c.1384C>A (p.Gln462Lys)
c.592C>A (p.Gln198Lys)
8g.60836141C>GCA371316237CHD7c.3847C>G (p.Gln1283Glu)
c.1717-26088C>G (n.1717-26088C>G)
c.1834C>G (p.Gln612Glu)
c.1384C>G (p.Gln462Glu)
c.592C>G (p.Gln198Glu)
8g.60836141C>TCA371316238CHD7c.3847C>T (p.Gln1283Ter)
c.1717-26088C>T (n.1717-26088C>T)
c.1834C>T (p.Gln612Ter)
c.1384C>T (p.Gln462Ter)
c.592C>T (p.Gln198Ter)
 ClinVar
8g.60836142A=CA1788112436CHD7c.3848A= (p.Gln1283=)
c.1717-26087A= (n.1717-26087A=)
c.1835A= (p.Gln612=)
c.1385A= (p.Gln462=)
c.593A= (p.Gln198=)
8g.60836142A>CCA371316239CHD7c.3848A>C (p.Gln1283Pro)
c.1717-26087A>C (n.1717-26087A>C)
c.1835A>C (p.Gln612Pro)
c.1385A>C (p.Gln462Pro)
c.593A>C (p.Gln198Pro)
8g.60836142A>GCA371316240CHD7c.3848A>G (p.Gln1283Arg)
c.1717-26087A>G (n.1717-26087A>G)
c.1835A>G (p.Gln612Arg)
c.1385A>G (p.Gln462Arg)
c.593A>G (p.Gln198Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60836142A>TCA371316241CHD7c.3848A>T (p.Gln1283Leu)
c.1717-26087A>T (n.1717-26087A>T)
c.1835A>T (p.Gln612Leu)
c.1385A>T (p.Gln462Leu)
c.593A>T (p.Gln198Leu)
8g.60836143G>ACA460846723CHD7c.3849G>A (p.Gln1283=)
c.1717-26086G>A (n.1717-26086G>A)
c.1836G>A (p.Gln612=)
c.1386G>A (p.Gln462=)
c.594G>A (p.Gln198=)
8g.60836143G>CCA4760037CHD7c.3849G>C (p.Gln1283His)
c.1717-26086G>C (n.1717-26086G>C)
c.1836G>C (p.Gln612His)
c.1386G>C (p.Gln462His)
c.594G>C (p.Gln198His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60836143G=CA1788112442CHD7c.3849G= (p.Gln1283=)
c.1717-26086G= (n.1717-26086G=)
c.1836G= (p.Gln612=)
c.1386G= (p.Gln462=)
c.594G= (p.Gln198=)
8g.60836143G>TCA371316242CHD7c.3849G>T (p.Gln1283His)
c.1717-26086G>T (n.1717-26086G>T)
c.1836G>T (p.Gln612His)
c.1386G>T (p.Gln462His)
c.594G>T (p.Gln198His)
8g.60836144G>ACA4760038CHD7c.3850G>A (p.Ala1284Thr)
c.1717-26085G>A (n.1717-26085G>A)
c.1837G>A (p.Ala613Thr)
c.1387G>A (p.Ala463Thr)
c.595G>A (p.Ala199Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60836144G>CCA371316243CHD7c.3850G>C (p.Ala1284Pro)
c.1717-26085G>C (n.1717-26085G>C)
c.1837G>C (p.Ala613Pro)
c.1387G>C (p.Ala463Pro)
c.595G>C (p.Ala199Pro)
8g.60836144G=CA1788112449CHD7c.3850G= (p.Ala1284=)
c.1717-26085G= (n.1717-26085G=)
c.1837G= (p.Ala613=)
c.1387G= (p.Ala463=)
c.595G= (p.Ala199=)
8g.60836144G>TCA371316244CHD7c.3850G>T (p.Ala1284Ser)
c.1717-26085G>T (n.1717-26085G>T)
c.1837G>T (p.Ala613Ser)
c.1387G>T (p.Ala463Ser)
c.595G>T (p.Ala199Ser)
8g.60836145C>ACA371316246CHD7c.3851C>A (p.Ala1284Glu)
c.1717-26084C>A (n.1717-26084C>A)
c.1838C>A (p.Ala613Glu)
c.1388C>A (p.Ala463Glu)
c.596C>A (p.Ala199Glu)
8g.60836145C=CA1788112466CHD7c.3851C= (p.Ala1284=)
c.1717-26084C= (n.1717-26084C=)
c.1838C= (p.Ala613=)
c.1388C= (p.Ala463=)
c.596C= (p.Ala199=)
8g.60836145C>GCA371316247CHD7c.3851C>G (p.Ala1284Gly)
c.1717-26084C>G (n.1717-26084C>G)
c.1838C>G (p.Ala613Gly)
c.1388C>G (p.Ala463Gly)
c.596C>G (p.Ala199Gly)
8g.60836145C>TCA371316245CHD7c.3851C>T (p.Ala1284Val)
c.1717-26084C>T (n.1717-26084C>T)
c.1838C>T (p.Ala613Val)
c.1388C>T (p.Ala463Val)
c.596C>T (p.Ala199Val)
 ClinVar dbSNP
8g.60836146A=CA1788112468CHD7c.3852A= (p.Ala1284=)
c.1717-26083A= (n.1717-26083A=)
c.1839A= (p.Ala613=)
c.1389A= (p.Ala463=)
c.597A= (p.Ala199=)
8g.60836146A>CCA460846725CHD7c.3852A>C (p.Ala1284=)
c.1717-26083A>C (n.1717-26083A>C)
c.1839A>C (p.Ala613=)
c.1389A>C (p.Ala463=)
c.597A>C (p.Ala199=)
 dbSNP gnomAD v3 gnomAD v4
8g.60836146A>GCA460846726CHD7c.3852A>G (p.Ala1284=)
c.1717-26083A>G (n.1717-26083A>G)
c.1839A>G (p.Ala613=)
c.1389A>G (p.Ala463=)
c.597A>G (p.Ala199=)
8g.60836146A>TCA460846727CHD7c.3852A>T (p.Ala1284=)
c.1717-26083A>T (n.1717-26083A>T)
c.1839A>T (p.Ala613=)
c.1389A>T (p.Ala463=)
c.597A>T (p.Ala199=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60836147A=CA1788112476CHD7c.3853A= (p.Met1285=)
c.1717-26082A= (n.1717-26082A=)
c.1840A= (p.Met614=)
c.1390A= (p.Met464=)
c.598A= (p.Met200=)
8g.60836147A>CCA371316248CHD7c.3853A>C (p.Met1285Leu)
c.1717-26082A>C (n.1717-26082A>C)
c.1840A>C (p.Met614Leu)
c.1390A>C (p.Met464Leu)
c.598A>C (p.Met200Leu)
8g.60836147A>GCA4760039CHD7c.3853A>G (p.Met1285Val)
c.1717-26082A>G (n.1717-26082A>G)
c.1840A>G (p.Met614Val)
c.1390A>G (p.Met464Val)
c.598A>G (p.Met200Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60836147A>TCA371316249CHD7c.3853A>T (p.Met1285Leu)
c.1717-26082A>T (n.1717-26082A>T)
c.1840A>T (p.Met614Leu)
c.1390A>T (p.Met464Leu)
c.598A>T (p.Met200Leu)
8g.60836148T>ACA371316250CHD7c.3854T>A (p.Met1285Lys)
c.1717-26081T>A (n.1717-26081T>A)
c.1841T>A (p.Met614Lys)
c.1391T>A (p.Met464Lys)
c.599T>A (p.Met200Lys)
8g.60836148T>CCA371316251CHD7c.3854T>C (p.Met1285Thr)
c.1717-26081T>C (n.1717-26081T>C)
c.1841T>C (p.Met614Thr)
c.1391T>C (p.Met464Thr)
c.599T>C (p.Met200Thr)
8g.60836148T>GCA371316252CHD7c.3854T>G (p.Met1285Arg)
c.1717-26081T>G (n.1717-26081T>G)
c.1841T>G (p.Met614Arg)
c.1391T>G (p.Met464Arg)
c.599T>G (p.Met200Arg)
8g.60836149G>ACA371316253CHD7c.3855G>A (p.Met1285Ile)
c.1717-26080G>A (n.1717-26080G>A)
c.1842G>A (p.Met614Ile)
c.1392G>A (p.Met464Ile)
c.600G>A (p.Met200Ile)
8g.60836149G>CCA371316254CHD7c.3855G>C (p.Met1285Ile)
c.1717-26080G>C (n.1717-26080G>C)
c.1842G>C (p.Met614Ile)
c.1392G>C (p.Met464Ile)
c.600G>C (p.Met200Ile)
8g.60836149G>TCA371316255CHD7c.3855G>T (p.Met1285Ile)
c.1717-26080G>T (n.1717-26080G>T)
c.1842G>T (p.Met614Ile)
c.1392G>T (p.Met464Ile)
c.600G>T (p.Met200Ile)
8g.60836150A=CA1788112478CHD7c.3856A= (p.Ile1286=)
c.1717-26079A= (n.1717-26079A=)
c.1843A= (p.Ile615=)
c.1393A= (p.Ile465=)
c.601A= (p.Ile201=)
8g.60836150A>CCA4760040CHD7c.3856A>C (p.Ile1286Leu)
c.1717-26079A>C (n.1717-26079A>C)
c.1843A>C (p.Ile615Leu)
c.1393A>C (p.Ile465Leu)
c.601A>C (p.Ile201Leu)
 dbSNP ExAC gnomAD v2
8g.60836150A>GCA371316256CHD7c.3856A>G (p.Ile1286Val)
c.1717-26079A>G (n.1717-26079A>G)
c.1843A>G (p.Ile615Val)
c.1393A>G (p.Ile465Val)
c.601A>G (p.Ile201Val)
 COSMIC
8g.60836150A>TCA371316257CHD7c.3856A>T (p.Ile1286Phe)
c.1717-26079A>T (n.1717-26079A>T)
c.1843A>T (p.Ile615Phe)
c.1393A>T (p.Ile465Phe)
c.601A>T (p.Ile201Phe)
8g.60836150dupCA2695209683CHD7c.3856dup (p.Ile1286AsnfsTer11)
c.1717-26079dup (n.1717-26079dup)
c.1843dup (p.Ile615AsnfsTer11)
c.1393dup (p.Ile465AsnfsTer11)
c.601dup (p.Ile201AsnfsTer11)
8g.60836151T>ACA371316259CHD7c.3857T>A (p.Ile1286Asn)
c.1717-26078T>A (n.1717-26078T>A)
c.1844T>A (p.Ile615Asn)
c.1394T>A (p.Ile465Asn)
c.602T>A (p.Ile201Asn)
8g.60836151T>CCA371316260CHD7c.3857T>C (p.Ile1286Thr)
c.1717-26078T>C (n.1717-26078T>C)
c.1844T>C (p.Ile615Thr)
c.1394T>C (p.Ile465Thr)
c.602T>C (p.Ile201Thr)
 gnomAD v4
8g.60836151T>GCA371316258CHD7c.3857T>G (p.Ile1286Ser)
c.1717-26078T>G (n.1717-26078T>G)
c.1844T>G (p.Ile615Ser)
c.1394T>G (p.Ile465Ser)
c.602T>G (p.Ile201Ser)
8g.60836152C>ACA460846731CHD7c.3858C>A (p.Ile1286=)
c.1717-26077C>A (n.1717-26077C>A)
c.1845C>A (p.Ile615=)
c.1395C>A (p.Ile465=)
c.603C>A (p.Ile201=)
 ClinVar
8g.60836152C=CA1788112481CHD7c.3858C= (p.Ile1286=)
c.1717-26077C= (n.1717-26077C=)
c.1845C= (p.Ile615=)
c.1395C= (p.Ile465=)
c.603C= (p.Ile201=)
8g.60836152C>GCA371316261CHD7c.3858C>G (p.Ile1286Met)
c.1717-26077C>G (n.1717-26077C>G)
c.1845C>G (p.Ile615Met)
c.1395C>G (p.Ile465Met)
c.603C>G (p.Ile201Met)
8g.60836152C>TCA460846732CHD7c.3858C>T (p.Ile1286=)
c.1717-26077C>T (n.1717-26077C>T)
c.1845C>T (p.Ile615=)
c.1395C>T (p.Ile465=)
c.603C>T (p.Ile201=)
 ClinVar dbSNP gnomAD v4
8g.60836153C>ACA371316262CHD7c.3859C>A (p.Gln1287Lys)
c.1717-26076C>A (n.1717-26076C>A)
c.1846C>A (p.Gln616Lys)
c.1396C>A (p.Gln466Lys)
c.604C>A (p.Gln202Lys)
8g.60836153C=CA1788112492CHD7c.3859C= (p.Gln1287=)
c.1717-26076C= (n.1717-26076C=)
c.1846C= (p.Gln616=)
c.1396C= (p.Gln466=)
c.604C= (p.Gln202=)
8g.60836153C>GCA371316263CHD7c.3859C>G (p.Gln1287Glu)
c.1717-26076C>G (n.1717-26076C>G)
c.1846C>G (p.Gln616Glu)
c.1396C>G (p.Gln466Glu)
c.604C>G (p.Gln202Glu)
8g.60836153C>TCA371316264CHD7c.3859C>T (p.Gln1287Ter)
c.1717-26076C>T (n.1717-26076C>T)
c.1846C>T (p.Gln616Ter)
c.1396C>T (p.Gln466Ter)
c.604C>T (p.Gln202Ter)
 ClinVar dbSNP
8g.60836154A>CCA371316265CHD7c.3860A>C (p.Gln1287Pro)
c.1717-26075A>C (n.1717-26075A>C)
c.1847A>C (p.Gln616Pro)
c.1397A>C (p.Gln466Pro)
c.605A>C (p.Gln202Pro)
8g.60836154A>GCA371316266CHD7c.3860A>G (p.Gln1287Arg)
c.1717-26075A>G (n.1717-26075A>G)
c.1847A>G (p.Gln616Arg)
c.1397A>G (p.Gln466Arg)
c.605A>G (p.Gln202Arg)
8g.60836154A>TCA371316267CHD7c.3860A>T (p.Gln1287Leu)
c.1717-26075A>T (n.1717-26075A>T)
c.1847A>T (p.Gln616Leu)
c.1397A>T (p.Gln466Leu)
c.605A>T (p.Gln202Leu)
8g.60836155G>ACA460846734CHD7c.3861G>A (p.Gln1287=)
c.1717-26074G>A (n.1717-26074G>A)
c.1848G>A (p.Gln616=)
c.1398G>A (p.Gln466=)
c.606G>A (p.Gln202=)
 dbSNP gnomAD v3 gnomAD v4
8g.60836155G>CCA177343754CHD7c.3861G>C (p.Gln1287His)
c.1717-26074G>C (n.1717-26074G>C)
c.1848G>C (p.Gln616His)
c.1398G>C (p.Gln466His)
c.606G>C (p.Gln202His)
 dbSNP
8g.60836155G=CA1788112503CHD7c.3861G= (p.Gln1287=)
c.1717-26074G= (n.1717-26074G=)
c.1848G= (p.Gln616=)
c.1398G= (p.Gln466=)
c.606G= (p.Gln202=)
8g.60836155G>TCA371316268CHD7c.3861G>T (p.Gln1287His)
c.1717-26074G>T (n.1717-26074G>T)
c.1848G>T (p.Gln616His)
c.1398G>T (p.Gln466His)
c.606G>T (p.Gln202His)
8g.60836156G>ACA371316269CHD7c.3862G>A (p.Ala1288Thr)
c.1717-26073G>A (n.1717-26073G>A)
c.1849G>A (p.Ala617Thr)
c.1399G>A (p.Ala467Thr)
c.607G>A (p.Ala203Thr)
8g.60836156G>CCA371316270CHD7c.3862G>C (p.Ala1288Pro)
c.1717-26073G>C (n.1717-26073G>C)
c.1849G>C (p.Ala617Pro)
c.1399G>C (p.Ala467Pro)
c.607G>C (p.Ala203Pro)
8g.60836156G>TCA371316271CHD7c.3862G>T (p.Ala1288Ser)
c.1717-26073G>T (n.1717-26073G>T)
c.1849G>T (p.Ala617Ser)
c.1399G>T (p.Ala467Ser)
c.607G>T (p.Ala203Ser)
8g.60836157C>ACA371316272CHD7c.3863C>A (p.Ala1288Asp)
c.1717-26072C>A (n.1717-26072C>A)
c.1850C>A (p.Ala617Asp)
c.1400C>A (p.Ala467Asp)
c.608C>A (p.Ala203Asp)
8g.60836157C>GCA371316273CHD7c.3863C>G (p.Ala1288Gly)
c.1717-26072C>G (n.1717-26072C>G)
c.1850C>G (p.Ala617Gly)
c.1400C>G (p.Ala467Gly)
c.608C>G (p.Ala203Gly)
8g.60836157C>TCA371316274CHD7c.3863C>T (p.Ala1288Val)
c.1717-26072C>T (n.1717-26072C>T)
c.1850C>T (p.Ala617Val)
c.1400C>T (p.Ala467Val)
c.608C>T (p.Ala203Val)
8g.60836158T>ACA460846736CHD7c.3864T>A (p.Ala1288=)
c.1717-26071T>A (n.1717-26071T>A)
c.1851T>A (p.Ala617=)
c.1401T>A (p.Ala467=)
c.609T>A (p.Ala203=)
8g.60836158T>CCA460846737CHD7c.3864T>C (p.Ala1288=)
c.1717-26071T>C (n.1717-26071T>C)
c.1851T>C (p.Ala617=)
c.1401T>C (p.Ala467=)
c.609T>C (p.Ala203=)
8g.60836158T>GCA177343759CHD7c.3864T>G (p.Ala1288=)
c.1717-26071T>G (n.1717-26071T>G)
c.1851T>G (p.Ala617=)
c.1401T>G (p.Ala467=)
c.609T>G (p.Ala203=)
 dbSNP gnomAD v3 gnomAD v4
8g.60836158T=CA1788112506CHD7c.3864T= (p.Ala1288=)
c.1717-26071T= (n.1717-26071T=)
c.1851T= (p.Ala617=)
c.1401T= (p.Ala467=)
c.609T= (p.Ala203=)
8g.60836159G>ACA371316276CHD7c.3865G>A (p.Ala1289Thr)
c.1717-26070G>A (n.1717-26070G>A)
c.1852G>A (p.Ala618Thr)
c.1402G>A (p.Ala468Thr)
c.610G>A (p.Ala204Thr)
8g.60836159G>CCA371316275CHD7c.3865G>C (p.Ala1289Pro)
c.1717-26070G>C (n.1717-26070G>C)
c.1852G>C (p.Ala618Pro)
c.1402G>C (p.Ala468Pro)
c.610G>C (p.Ala204Pro)
8g.60836159G>TCA371316277CHD7c.3865G>T (p.Ala1289Ser)
c.1717-26070G>T (n.1717-26070G>T)
c.1852G>T (p.Ala618Ser)
c.1402G>T (p.Ala468Ser)
c.610G>T (p.Ala204Ser)
8g.60836160C>ACA371316278CHD7c.3866C>A (p.Ala1289Asp)
c.1717-26069C>A (n.1717-26069C>A)
c.1853C>A (p.Ala618Asp)
c.1403C>A (p.Ala468Asp)
c.611C>A (p.Ala204Asp)
8g.60836160C>GCA371316279CHD7c.3866C>G (p.Ala1289Gly)
c.1717-26069C>G (n.1717-26069C>G)
c.1853C>G (p.Ala618Gly)
c.1403C>G (p.Ala468Gly)
c.611C>G (p.Ala204Gly)
8g.60836160C>TCA371316280CHD7c.3866C>T (p.Ala1289Val)
c.1717-26069C>T (n.1717-26069C>T)
c.1853C>T (p.Ala618Val)
c.1403C>T (p.Ala468Val)
c.611C>T (p.Ala204Val)
 COSMIC
8g.60836161T>ACA4760041CHD7c.3867T>A (p.Ala1289=)
c.1717-26068T>A (n.1717-26068T>A)
c.1854T>A (p.Ala618=)
c.1404T>A (p.Ala468=)
c.612T>A (p.Ala204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60836161T>CCA460846739CHD7c.3867T>C (p.Ala1289=)
c.1717-26068T>C (n.1717-26068T>C)
c.1854T>C (p.Ala618=)
c.1404T>C (p.Ala468=)
c.612T>C (p.Ala204=)
8g.60836161T>GCA460846740CHD7c.3867T>G (p.Ala1289=)
c.1717-26068T>G (n.1717-26068T>G)
c.1854T>G (p.Ala618=)
c.1404T>G (p.Ala468=)
c.612T>G (p.Ala204=)
8g.60836161T=CA1788112511CHD7c.3867T= (p.Ala1289=)
c.1717-26068T= (n.1717-26068T=)
c.1854T= (p.Ala618=)
c.1404T= (p.Ala468=)
c.612T= (p.Ala204=)
8g.60836162G>ACA371316281CHD7c.3868G>A (p.Gly1290Ser)
c.1717-26067G>A (n.1717-26067G>A)
c.1855G>A (p.Gly619Ser)
c.1405G>A (p.Gly469Ser)
c.613G>A (p.Gly205Ser)
8g.60836162G>CCA223293CHD7c.3868G>C (p.Gly1290Arg)
c.1717-26067G>C (n.1717-26067G>C)
c.1855G>C (p.Gly619Arg)
c.1405G>C (p.Gly469Arg)
c.613G>C (p.Gly205Arg)
 ClinVar dbSNP
8g.60836162G=CA1788112520CHD7c.3868G= (p.Gly1290=)
c.1717-26067G= (n.1717-26067G=)
c.1855G= (p.Gly619=)
c.1405G= (p.Gly469=)
c.613G= (p.Gly205=)
8g.60836162G>TCA371316282CHD7c.3868G>T (p.Gly1290Cys)
c.1717-26067G>T (n.1717-26067G>T)
c.1855G>T (p.Gly619Cys)
c.1405G>T (p.Gly469Cys)
c.613G>T (p.Gly205Cys)
8g.60836163G>ACA371316283CHD7c.3869G>A (p.Gly1290Asp)
c.1717-26066G>A (n.1717-26066G>A)
c.1856G>A (p.Gly619Asp)
c.1406G>A (p.Gly469Asp)
c.614G>A (p.Gly205Asp)
8g.60836163G>CCA371316284CHD7c.3869G>C (p.Gly1290Ala)
c.1717-26066G>C (n.1717-26066G>C)
c.1856G>C (p.Gly619Ala)
c.1406G>C (p.Gly469Ala)
c.614G>C (p.Gly205Ala)
8g.60836163G>TCA371316285CHD7c.3869G>T (p.Gly1290Val)
c.1717-26066G>T (n.1717-26066G>T)
c.1856G>T (p.Gly619Val)
c.1406G>T (p.Gly469Val)
c.614G>T (p.Gly205Val)
8g.60836164C>ACA460846742CHD7c.3870C>A (p.Gly1290=)
c.1717-26065C>A (n.1717-26065C>A)
c.1857C>A (p.Gly619=)
c.1407C>A (p.Gly469=)
c.615C>A (p.Gly205=)
8g.60836164C>GCA460846743CHD7c.3870C>G (p.Gly1290=)
c.1717-26065C>G (n.1717-26065C>G)
c.1857C>G (p.Gly619=)
c.1407C>G (p.Gly469=)
c.615C>G (p.Gly205=)
8g.60836164C>TCA460846745CHD7c.3870C>T (p.Gly1290=)
c.1717-26065C>T (n.1717-26065C>T)
c.1857C>T (p.Gly619=)
c.1407C>T (p.Gly469=)
c.615C>T (p.Gly205=)
8g.60836165A>CCA371316286CHD7c.3871A>C (p.Lys1291Gln)
c.1717-26064A>C (n.1717-26064A>C)
c.1858A>C (p.Lys620Gln)
c.1408A>C (p.Lys470Gln)
c.616A>C (p.Lys206Gln)
8g.60836165A>GCA371316287CHD7c.3871A>G (p.Lys1291Glu)
c.1717-26064A>G (n.1717-26064A>G)
c.1858A>G (p.Lys620Glu)
c.1408A>G (p.Lys470Glu)
c.616A>G (p.Lys206Glu)
8g.60836165A>TCA371316288CHD7c.3871A>T (p.Lys1291Ter)
c.1717-26064A>T (n.1717-26064A>T)
c.1858A>T (p.Lys620Ter)
c.1408A>T (p.Lys470Ter)
c.616A>T (p.Lys206Ter)
8g.60836166A>CCA371316291CHD7c.3872A>C (p.Lys1291Thr)
c.1717-26063A>C (n.1717-26063A>C)
c.1859A>C (p.Lys620Thr)
c.1409A>C (p.Lys470Thr)
c.617A>C (p.Lys206Thr)
8g.60836166A>GCA371316289CHD7c.3872A>G (p.Lys1291Arg)
c.1717-26063A>G (n.1717-26063A>G)
c.1859A>G (p.Lys620Arg)
c.1409A>G (p.Lys470Arg)
c.617A>G (p.Lys206Arg)
8g.60836166A>TCA371316290CHD7c.3872A>T (p.Lys1291Met)
c.1717-26063A>T (n.1717-26063A>T)
c.1859A>T (p.Lys620Met)
c.1409A>T (p.Lys470Met)
c.617A>T (p.Lys206Met)
8g.60836167G>ACA460846749CHD7c.3873G>A (p.Lys1291=)
c.1717-26062G>A (n.1717-26062G>A)
c.1860G>A (p.Lys620=)
c.1410G>A (p.Lys470=)
c.618G>A (p.Lys206=)
8g.60836167G>CCA371316292CHD7c.3873G>C (p.Lys1291Asn)
c.1717-26062G>C (n.1717-26062G>C)
c.1860G>C (p.Lys620Asn)
c.1410G>C (p.Lys470Asn)
c.618G>C (p.Lys206Asn)
8g.60836167G>TCA371316293CHD7c.3873G>T (p.Lys1291Asn)
c.1717-26062G>T (n.1717-26062G>T)
c.1860G>T (p.Lys620Asn)
c.1410G>T (p.Lys470Asn)
c.618G>T (p.Lys206Asn)
8g.60836168C>ACA371316294CHD7c.3874C>A (p.Leu1292Ile)
c.1717-26061C>A (n.1717-26061C>A)
c.1861C>A (p.Leu621Ile)
c.1411C>A (p.Leu471Ile)
c.619C>A (p.Leu207Ile)
8g.60836168C>GCA371316295CHD7c.3874C>G (p.Leu1292Val)
c.1717-26061C>G (n.1717-26061C>G)
c.1861C>G (p.Leu621Val)
c.1411C>G (p.Leu471Val)
c.619C>G (p.Leu207Val)
8g.60836168C>TCA460846751CHD7c.3874C>T (p.Leu1292=)
c.1717-26061C>T (n.1717-26061C>T)
c.1861C>T (p.Leu621=)
c.1411C>T (p.Leu471=)
c.619C>T (p.Leu207=)
8g.60836169T>ACA371316296CHD7c.3875T>A (p.Leu1292Gln)
c.1717-26060T>A (n.1717-26060T>A)
c.1862T>A (p.Leu621Gln)
c.1412T>A (p.Leu471Gln)
c.620T>A (p.Leu207Gln)
8g.60836169T>CCA371316297CHD7c.3875T>C (p.Leu1292Pro)
c.1717-26060T>C (n.1717-26060T>C)
c.1862T>C (p.Leu621Pro)
c.1412T>C (p.Leu471Pro)
c.620T>C (p.Leu207Pro)
8g.60836169T>GCA371316298CHD7c.3875T>G (p.Leu1292Arg)
c.1717-26060T>G (n.1717-26060T>G)
c.1862T>G (p.Leu621Arg)
c.1412T>G (p.Leu471Arg)
c.620T>G (p.Leu207Arg)
8g.60836170A=CA1788112526CHD7c.3876A= (p.Leu1292=)
c.1717-26059A= (n.1717-26059A=)
c.1863A= (p.Leu621=)
c.1413A= (p.Leu471=)
c.621A= (p.Leu207=)
8g.60836170A>CCA460846752CHD7c.3876A>C (p.Leu1292=)
c.1717-26059A>C (n.1717-26059A>C)
c.1863A>C (p.Leu621=)
c.1413A>C (p.Leu471=)
c.621A>C (p.Leu207=)
8g.60836170A>GCA460846753CHD7c.3876A>G (p.Leu1292=)
c.1717-26059A>G (n.1717-26059A>G)
c.1863A>G (p.Leu621=)
c.1413A>G (p.Leu471=)
c.621A>G (p.Leu207=)
8g.60836170A>TCA460846754CHD7c.3876A>T (p.Leu1292=)
c.1717-26059A>T (n.1717-26059A>T)
c.1863A>T (p.Leu621=)
c.1413A>T (p.Leu471=)
c.621A>T (p.Leu207=)
 dbSNP gnomAD v2 gnomAD v4
8g.60836171G>ACA371316299CHD7c.3877G>A (p.Val1293Met)
c.1717-26058G>A (n.1717-26058G>A)
c.1864G>A (p.Val622Met)
c.1414G>A (p.Val472Met)
c.622G>A (p.Val208Met)
8g.60836171G>CCA371316300CHD7c.3877G>C (p.Val1293Leu)
c.1717-26058G>C (n.1717-26058G>C)
c.1864G>C (p.Val622Leu)
c.1414G>C (p.Val472Leu)
c.622G>C (p.Val208Leu)
8g.60836171G>TCA371316301CHD7c.3877G>T (p.Val1293Leu)
c.1717-26058G>T (n.1717-26058G>T)
c.1864G>T (p.Val622Leu)
c.1414G>T (p.Val472Leu)
c.622G>T (p.Val208Leu)
8g.60836172T>ACA371316302CHD7c.3878T>A (p.Val1293Glu)
c.1717-26057T>A (n.1717-26057T>A)
c.1865T>A (p.Val622Glu)
c.1415T>A (p.Val472Glu)
c.623T>A (p.Val208Glu)
8g.60836172T>CCA371316303CHD7c.3878T>C (p.Val1293Ala)
c.1717-26057T>C (n.1717-26057T>C)
c.1865T>C (p.Val622Ala)
c.1415T>C (p.Val472Ala)
c.623T>C (p.Val208Ala)
8g.60836172T>GCA371316304CHD7c.3878T>G (p.Val1293Gly)
c.1717-26057T>G (n.1717-26057T>G)
c.1865T>G (p.Val622Gly)
c.1415T>G (p.Val472Gly)
c.623T>G (p.Val208Gly)
8g.60836173G>ACA460846760CHD7c.3879G>A (p.Val1293=)
c.1717-26056G>A (n.1717-26056G>A)
c.1866G>A (p.Val622=)
c.1416G>A (p.Val472=)
c.624G>A (p.Val208=)
 dbSNP gnomAD v3 gnomAD v4
8g.60836173G>CCA460846759CHD7c.3879G>C (p.Val1293=)
c.1717-26056G>C (n.1717-26056G>C)
c.1866G>C (p.Val622=)
c.1416G>C (p.Val472=)
c.624G>C (p.Val208=)
8g.60836173G=CA1788112539CHD7c.3879G= (p.Val1293=)
c.1717-26056G= (n.1717-26056G=)
c.1866G= (p.Val622=)
c.1416G= (p.Val472=)
c.624G= (p.Val208=)
8g.60836173G>TCA460846758CHD7c.3879G>T (p.Val1293=)
c.1717-26056G>T (n.1717-26056G>T)
c.1866G>T (p.Val622=)
c.1416G>T (p.Val472=)
c.624G>T (p.Val208=)
8g.60836174C>ACA371316305CHD7c.3880C>A (p.Leu1294Met)
c.1717-26055C>A (n.1717-26055C>A)
c.1867C>A (p.Leu623Met)
c.1417C>A (p.Leu473Met)
c.625C>A (p.Leu209Met)
8g.60836174C>GCA371316306CHD7c.3880C>G (p.Leu1294Val)
c.1717-26055C>G (n.1717-26055C>G)
c.1867C>G (p.Leu623Val)
c.1417C>G (p.Leu473Val)
c.625C>G (p.Leu209Val)
8g.60836174C>TCA460846763CHD7c.3880C>T (p.Leu1294=)
c.1717-26055C>T (n.1717-26055C>T)
c.1867C>T (p.Leu623=)
c.1417C>T (p.Leu473=)
c.625C>T (p.Leu209=)
8g.60836175T>ACA371316307CHD7c.3881T>A (p.Leu1294Gln)
c.1717-26054T>A (n.1717-26054T>A)
c.1868T>A (p.Leu623Gln)
c.1418T>A (p.Leu473Gln)
c.626T>A (p.Leu209Gln)
8g.60836175T>CCA249352CHD7c.3881T>C (p.Leu1294Pro)
c.1717-26054T>C (n.1717-26054T>C)
c.1868T>C (p.Leu623Pro)
c.1418T>C (p.Leu473Pro)
c.626T>C (p.Leu209Pro)
 ClinVar dbSNP
8g.60836175T>GCA371316308CHD7c.3881T>G (p.Leu1294Arg)
c.1717-26054T>G (n.1717-26054T>G)
c.1868T>G (p.Leu623Arg)
c.1418T>G (p.Leu473Arg)
c.626T>G (p.Leu209Arg)
8g.60836175T=CA1788112561CHD7c.3881T= (p.Leu1294=)
c.1717-26054T= (n.1717-26054T=)
c.1868T= (p.Leu623=)
c.1418T= (p.Leu473=)
c.626T= (p.Leu209=)
8g.60836176G>ACA460846765CHD7c.3882G>A (p.Leu1294=)
c.1717-26053G>A (n.1717-26053G>A)
c.1869G>A (p.Leu623=)
c.1419G>A (p.Leu473=)
c.627G>A (p.Leu209=)
 dbSNP gnomAD v2
8g.60836176G>CCA460846766CHD7c.3882G>C (p.Leu1294=)
c.1717-26053G>C (n.1717-26053G>C)
c.1869G>C (p.Leu623=)
c.1419G>C (p.Leu473=)
c.627G>C (p.Leu209=)
 dbSNP
8g.60836176G=CA1788112565CHD7c.3882G= (p.Leu1294=)
c.1717-26053G= (n.1717-26053G=)
c.1869G= (p.Leu623=)
c.1419G= (p.Leu473=)
c.627G= (p.Leu209=)
8g.60836176G>TCA460846767CHD7c.3882G>T (p.Leu1294=)
c.1717-26053G>T (n.1717-26053G>T)
c.1869G>T (p.Leu623=)
c.1419G>T (p.Leu473=)
c.627G>T (p.Leu209=)
8g.60836177A>CCA371316309CHD7c.3883A>C (p.Ile1295Leu)
c.1717-26052A>C (n.1717-26052A>C)
c.1870A>C (p.Ile624Leu)
c.1420A>C (p.Ile474Leu)
c.628A>C (p.Ile210Leu)
8g.60836177A>GCA371316310CHD7c.3883A>G (p.Ile1295Val)
c.1717-26052A>G (n.1717-26052A>G)
c.1870A>G (p.Ile624Val)
c.1420A>G (p.Ile474Val)
c.628A>G (p.Ile210Val)
8g.60836177A>TCA371316311CHD7c.3883A>T (p.Ile1295Phe)
c.1717-26052A>T (n.1717-26052A>T)
c.1870A>T (p.Ile624Phe)
c.1420A>T (p.Ile474Phe)
c.628A>T (p.Ile210Phe)
8g.60836178T>ACA371316312CHD7c.3884T>A (p.Ile1295Asn)
c.1717-26051T>A (n.1717-26051T>A)
c.1871T>A (p.Ile624Asn)
c.1421T>A (p.Ile474Asn)
c.629T>A (p.Ile210Asn)
 COSMIC
8g.60836178T>CCA371316313CHD7c.3884T>C (p.Ile1295Thr)
c.1717-26051T>C (n.1717-26051T>C)
c.1871T>C (p.Ile624Thr)
c.1421T>C (p.Ile474Thr)
c.629T>C (p.Ile210Thr)
8g.60836178T>GCA371316314CHD7c.3884T>G (p.Ile1295Ser)
c.1717-26051T>G (n.1717-26051T>G)
c.1871T>G (p.Ile624Ser)
c.1421T>G (p.Ile474Ser)
c.629T>G (p.Ile210Ser)
8g.60836179T>ACA460846769CHD7c.3885T>A (p.Ile1295=)
c.1717-26050T>A (n.1717-26050T>A)
c.1872T>A (p.Ile624=)
c.1422T>A (p.Ile474=)
c.630T>A (p.Ile210=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60836179T>CCA460846770CHD7c.3885T>C (p.Ile1295=)
c.1717-26050T>C (n.1717-26050T>C)
c.1872T>C (p.Ile624=)
c.1422T>C (p.Ile474=)
c.630T>C (p.Ile210=)
8g.60836179T>GCA371316315CHD7c.3885T>G (p.Ile1295Met)
c.1717-26050T>G (n.1717-26050T>G)
c.1872T>G (p.Ile624Met)
c.1422T>G (p.Ile474Met)
c.630T>G (p.Ile210Met)
8g.60836179T=CA1788112567CHD7c.3885T= (p.Ile1295=)
c.1717-26050T= (n.1717-26050T=)
c.1872T= (p.Ile624=)
c.1422T= (p.Ile474=)
c.630T= (p.Ile210=)
8g.60836180G>ACA371316316CHD7c.3886G>A (p.Asp1296Asn)
c.1717-26049G>A (n.1717-26049G>A)
c.1873G>A (p.Asp625Asn)
c.1423G>A (p.Asp475Asn)
c.631G>A (p.Asp211Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.60836180G>CCA371316317CHD7c.3886G>C (p.Asp1296His)
c.1717-26049G>C (n.1717-26049G>C)
c.1873G>C (p.Asp625His)
c.1423G>C (p.Asp475His)
c.631G>C (p.Asp211His)
8g.60836180G=CA1788112568CHD7c.3886G= (p.Asp1296=)
c.1717-26049G= (n.1717-26049G=)
c.1873G= (p.Asp625=)
c.1423G= (p.Asp475=)
c.631G= (p.Asp211=)
8g.60836180G>TCA371316318CHD7c.3886G>T (p.Asp1296Tyr)
c.1717-26049G>T (n.1717-26049G>T)
c.1873G>T (p.Asp625Tyr)
c.1423G>T (p.Asp475Tyr)
c.631G>T (p.Asp211Tyr)
8g.60836181A>CCA371316321CHD7c.3887A>C (p.Asp1296Ala)
c.1717-26048A>C (n.1717-26048A>C)
c.1874A>C (p.Asp625Ala)
c.1424A>C (p.Asp475Ala)
c.632A>C (p.Asp211Ala)
8g.60836181A>GCA371316319CHD7c.3887A>G (p.Asp1296Gly)
c.1717-26048A>G (n.1717-26048A>G)
c.1874A>G (p.Asp625Gly)
c.1424A>G (p.Asp475Gly)
c.632A>G (p.Asp211Gly)
8g.60836181A>TCA371316320CHD7c.3887A>T (p.Asp1296Val)
c.1717-26048A>T (n.1717-26048A>T)
c.1874A>T (p.Asp625Val)
c.1424A>T (p.Asp475Val)
c.632A>T (p.Asp211Val)
 ClinVar
8g.60836182C>ACA371316322CHD7c.3888C>A (p.Asp1296Glu)
c.1717-26047C>A (n.1717-26047C>A)
c.1875C>A (p.Asp625Glu)
c.1425C>A (p.Asp475Glu)
c.633C>A (p.Asp211Glu)
8g.60836182C=CA1788112569CHD7c.3888C= (p.Asp1296=)
c.1717-26047C= (n.1717-26047C=)
c.1875C= (p.Asp625=)
c.1425C= (p.Asp475=)
c.633C= (p.Asp211=)
8g.60836182C>GCA371316323CHD7c.3888C>G (p.Asp1296Glu)
c.1717-26047C>G (n.1717-26047C>G)
c.1875C>G (p.Asp625Glu)
c.1425C>G (p.Asp475Glu)
c.633C>G (p.Asp211Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.60836182C>TCA460846773CHD7c.3888C>T (p.Asp1296=)
c.1717-26047C>T (n.1717-26047C>T)
c.1875C>T (p.Asp625=)
c.1425C>T (p.Asp475=)
c.633C>T (p.Asp211=)
 dbSNP gnomAD v3 gnomAD v4
8g.60836183A>CCA371316324CHD7c.3889A>C (p.Lys1297Gln)
c.1717-26046A>C (n.1717-26046A>C)
c.1876A>C (p.Lys626Gln)
c.1426A>C (p.Lys476Gln)
c.634A>C (p.Lys212Gln)
8g.60836183A>GCA371316325CHD7c.3889A>G (p.Lys1297Glu)
c.1717-26046A>G (n.1717-26046A>G)
c.1876A>G (p.Lys626Glu)
c.1426A>G (p.Lys476Glu)
c.634A>G (p.Lys212Glu)
8g.60836183A>TCA371316326CHD7c.3889A>T (p.Lys1297Ter)
c.1717-26046A>T (n.1717-26046A>T)
c.1876A>T (p.Lys626Ter)
c.1426A>T (p.Lys476Ter)
c.634A>T (p.Lys212Ter)
8g.60836184A>CCA371316327CHD7c.3890A>C (p.Lys1297Thr)
c.1717-26045A>C (n.1717-26045A>C)
c.1877A>C (p.Lys626Thr)
c.1427A>C (p.Lys476Thr)
c.635A>C (p.Lys212Thr)
8g.60836184A>GCA371316328CHD7c.3890A>G (p.Lys1297Arg)
c.1717-26045A>G (n.1717-26045A>G)
c.1877A>G (p.Lys626Arg)
c.1427A>G (p.Lys476Arg)
c.635A>G (p.Lys212Arg)
8g.60836184A>TCA371316329CHD7c.3890A>T (p.Lys1297Met)
c.1717-26045A>T (n.1717-26045A>T)
c.1877A>T (p.Lys626Met)
c.1427A>T (p.Lys476Met)
c.635A>T (p.Lys212Met)
8g.60836185G>ACA460846775CHD7c.3891G>A (p.Lys1297=)
c.1717-26044G>A (n.1717-26044G>A)
c.1878G>A (p.Lys626=)
c.1428G>A (p.Lys476=)
c.636G>A (p.Lys212=)
8g.60836185G>CCA371316330CHD7c.3891G>C (p.Lys1297Asn)
c.1717-26044G>C (n.1717-26044G>C)
c.1878G>C (p.Lys626Asn)
c.1428G>C (p.Lys476Asn)
c.636G>C (p.Lys212Asn)
8g.60836185G>TCA371316331CHD7c.3891G>T (p.Lys1297Asn)
c.1717-26044G>T (n.1717-26044G>T)
c.1878G>T (p.Lys626Asn)
c.1428G>T (p.Lys476Asn)
c.636G>T (p.Lys212Asn)
8g.60836186C>ACA371316332CHD7c.3892C>A (p.Leu1298Met)
c.1717-26043C>A (n.1717-26043C>A)
c.1879C>A (p.Leu627Met)
c.1429C>A (p.Leu477Met)
c.637C>A (p.Leu213Met)
8g.60836186C=CA1788112571CHD7c.3892C= (p.Leu1298=)
c.1717-26043C= (n.1717-26043C=)
c.1879C= (p.Leu627=)
c.1429C= (p.Leu477=)
c.637C= (p.Leu213=)
8g.60836186C>GCA371316333CHD7c.3892C>G (p.Leu1298Val)
c.1717-26043C>G (n.1717-26043C>G)
c.1879C>G (p.Leu627Val)
c.1429C>G (p.Leu477Val)
c.637C>G (p.Leu213Val)
8g.60836186C>TCA460846776CHD7c.3892C>T (p.Leu1298=)
c.1717-26043C>T (n.1717-26043C>T)
c.1879C>T (p.Leu627=)
c.1429C>T (p.Leu477=)
c.637C>T (p.Leu213=)
 dbSNP
8g.60836187T>ACA371316334CHD7c.3893T>A (p.Leu1298Gln)
c.1717-26042T>A (n.1717-26042T>A)
c.1880T>A (p.Leu627Gln)
c.1430T>A (p.Leu477Gln)
c.638T>A (p.Leu213Gln)
8g.60836187T>CCA371316336CHD7c.3893T>C (p.Leu1298Pro)
c.1717-26042T>C (n.1717-26042T>C)
c.1880T>C (p.Leu627Pro)
c.1430T>C (p.Leu477Pro)
c.638T>C (p.Leu213Pro)
8g.60836187T>GCA371316335CHD7c.3893T>G (p.Leu1298Arg)
c.1717-26042T>G (n.1717-26042T>G)
c.1880T>G (p.Leu627Arg)
c.1430T>G (p.Leu477Arg)
c.638T>G (p.Leu213Arg)
8g.60836188G>ACA460846782CHD7c.3894G>A (p.Leu1298=)
c.1717-26041G>A (n.1717-26041G>A)
c.1881G>A (p.Leu627=)
c.1431G>A (p.Leu477=)
c.639G>A (p.Leu213=)
8g.60836188G>CCA460846781CHD7c.3894G>C (p.Leu1298=)
c.1717-26041G>C (n.1717-26041G>C)
c.1881G>C (p.Leu627=)
c.1431G>C (p.Leu477=)
c.639G>C (p.Leu213=)
8g.60836188G>TCA460846780CHD7c.3894G>T (p.Leu1298=)
c.1717-26041G>T (n.1717-26041G>T)
c.1881G>T (p.Leu627=)
c.1431G>T (p.Leu477=)
c.639G>T (p.Leu213=)
 gnomAD v4
8g.60836189C>ACA371316337CHD7c.3895C>A (p.Leu1299Met)
c.1717-26040C>A (n.1717-26040C>A)
c.1882C>A (p.Leu628Met)
c.1432C>A (p.Leu478Met)
c.640C>A (p.Leu214Met)
8g.60836189C>GCA371316338CHD7c.3895C>G (p.Leu1299Val)
c.1717-26040C>G (n.1717-26040C>G)
c.1882C>G (p.Leu628Val)
c.1432C>G (p.Leu478Val)
c.640C>G (p.Leu214Val)
8g.60836189C>TCA460846783CHD7c.3895C>T (p.Leu1299=)
c.1717-26040C>T (n.1717-26040C>T)
c.1882C>T (p.Leu628=)
c.1432C>T (p.Leu478=)
c.640C>T (p.Leu214=)
8g.60836190T>ACA371316339CHD7c.3896T>A (p.Leu1299Gln)
c.1717-26039T>A (n.1717-26039T>A)
c.1883T>A (p.Leu628Gln)
c.1433T>A (p.Leu478Gln)
c.641T>A (p.Leu214Gln)
8g.60836190T>CCA371316340CHD7c.3896T>C (p.Leu1299Pro)
c.1717-26039T>C (n.1717-26039T>C)
c.1883T>C (p.Leu628Pro)
c.1433T>C (p.Leu478Pro)
c.641T>C (p.Leu214Pro)
8g.60836190T>GCA371316341CHD7c.3896T>G (p.Leu1299Arg)
c.1717-26039T>G (n.1717-26039T>G)
c.1883T>G (p.Leu628Arg)
c.1433T>G (p.Leu478Arg)
c.641T>G (p.Leu214Arg)
8g.60836191G>ACA460846789CHD7c.3897G>A (p.Leu1299=)
c.1717-26038G>A (n.1717-26038G>A)
c.1884G>A (p.Leu628=)
c.1434G>A (p.Leu478=)
c.642G>A (p.Leu214=)
 gnomAD v4
8g.60836191G>CCA460846788CHD7c.3897G>C (p.Leu1299=)
c.1717-26038G>C (n.1717-26038G>C)
c.1884G>C (p.Leu628=)
c.1434G>C (p.Leu478=)
c.642G>C (p.Leu214=)
8g.60836191G>TCA460846786CHD7c.3897G>T (p.Leu1299=)
c.1717-26038G>T (n.1717-26038G>T)
c.1884G>T (p.Leu628=)
c.1434G>T (p.Leu478=)
c.642G>T (p.Leu214=)
8g.60836192C>ACA371316342CHD7c.3898C>A (p.Pro1300Thr)
c.1717-26037C>A (n.1717-26037C>A)
c.1885C>A (p.Pro629Thr)
c.1435C>A (p.Pro479Thr)
c.643C>A (p.Pro215Thr)
8g.60836192C>GCA371316343CHD7c.3898C>G (p.Pro1300Ala)
c.1717-26037C>G (n.1717-26037C>G)
c.1885C>G (p.Pro629Ala)
c.1435C>G (p.Pro479Ala)
c.643C>G (p.Pro215Ala)
8g.60836192C>TCA371316344CHD7c.3898C>T (p.Pro1300Ser)
c.1717-26037C>T (n.1717-26037C>T)
c.1885C>T (p.Pro629Ser)
c.1435C>T (p.Pro479Ser)
c.643C>T (p.Pro215Ser)
 COSMIC
8g.60836193C>ACA4760042CHD7c.3899C>A (p.Pro1300Gln)
c.1717-26036C>A (n.1717-26036C>A)
c.1886C>A (p.Pro629Gln)
c.1436C>A (p.Pro479Gln)
c.644C>A (p.Pro215Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60836193C=CA1788112574CHD7c.3899C= (p.Pro1300=)
c.1717-26036C= (n.1717-26036C=)
c.1886C= (p.Pro629=)
c.1436C= (p.Pro479=)
c.644C= (p.Pro215=)
8g.60836193C>GCA371316345CHD7c.3899C>G (p.Pro1300Arg)
c.1717-26036C>G (n.1717-26036C>G)
c.1886C>G (p.Pro629Arg)
c.1436C>G (p.Pro479Arg)
c.644C>G (p.Pro215Arg)
8g.60836193C>TCA371316346CHD7c.3899C>T (p.Pro1300Leu)
c.1717-26036C>T (n.1717-26036C>T)
c.1886C>T (p.Pro629Leu)
c.1436C>T (p.Pro479Leu)
c.644C>T (p.Pro215Leu)
8g.60836194A>CCA460846791CHD7c.3900A>C (p.Pro1300=)
c.1717-26035A>C (n.1717-26035A>C)
c.1887A>C (p.Pro629=)
c.1437A>C (p.Pro479=)
c.645A>C (p.Pro215=)
8g.60836194A>GCA460846795CHD7c.3900A>G (p.Pro1300=)
c.1717-26035A>G (n.1717-26035A>G)
c.1887A>G (p.Pro629=)
c.1437A>G (p.Pro479=)
c.645A>G (p.Pro215=)
 ClinVar dbSNP
8g.60836194A>TCA460846793CHD7c.3900A>T (p.Pro1300=)
c.1717-26035A>T (n.1717-26035A>T)
c.1887A>T (p.Pro629=)
c.1437A>T (p.Pro479=)
c.645A>T (p.Pro215=)
8g.60836195A>CCA371316347CHD7c.3901A>C (p.Lys1301Gln)
c.1717-26034A>C (n.1717-26034A>C)
c.1888A>C (p.Lys630Gln)
c.1438A>C (p.Lys480Gln)
c.646A>C (p.Lys216Gln)
8g.60836195A>GCA371316348CHD7c.3901A>G (p.Lys1301Glu)
c.1717-26034A>G (n.1717-26034A>G)
c.1888A>G (p.Lys630Glu)
c.1438A>G (p.Lys480Glu)
c.646A>G (p.Lys216Glu)
 COSMIC
8g.60836195A>TCA371316349CHD7c.3901A>T (p.Lys1301Ter)
c.1717-26034A>T (n.1717-26034A>T)
c.1888A>T (p.Lys630Ter)
c.1438A>T (p.Lys480Ter)
c.646A>T (p.Lys216Ter)
8g.60836196A>CCA371316350CHD7c.3902A>C (p.Lys1301Thr)
c.1717-26033A>C (n.1717-26033A>C)
c.1889A>C (p.Lys630Thr)
c.1439A>C (p.Lys480Thr)
c.647A>C (p.Lys216Thr)
8g.60836196A>GCA371316352CHD7c.3902A>G (p.Lys1301Arg)
c.1717-26033A>G (n.1717-26033A>G)
c.1889A>G (p.Lys630Arg)
c.1439A>G (p.Lys480Arg)
c.647A>G (p.Lys216Arg)
8g.60836196A>TCA371316351CHD7c.3902A>T (p.Lys1301Ile)
c.1717-26033A>T (n.1717-26033A>T)
c.1889A>T (p.Lys630Ile)
c.1439A>T (p.Lys480Ile)
c.647A>T (p.Lys216Ile)
8g.60836197A>CCA371316353CHD7c.3903A>C (p.Lys1301Asn)
c.1717-26032A>C (n.1717-26032A>C)
c.1890A>C (p.Lys630Asn)
c.1440A>C (p.Lys480Asn)
c.648A>C (p.Lys216Asn)
8g.60836197A>GCA460846798CHD7c.3903A>G (p.Lys1301=)
c.1717-26032A>G (n.1717-26032A>G)
c.1890A>G (p.Lys630=)
c.1440A>G (p.Lys480=)
c.648A>G (p.Lys216=)
8g.60836197A>TCA371316354CHD7c.3903A>T (p.Lys1301Asn)
c.1717-26032A>T (n.1717-26032A>T)
c.1890A>T (p.Lys630Asn)
c.1440A>T (p.Lys480Asn)
c.648A>T (p.Lys216Asn)
8g.60836198C>ACA371316355CHD7c.3904C>A (p.Leu1302Met)
c.1717-26031C>A (n.1717-26031C>A)
c.1891C>A (p.Leu631Met)
c.1441C>A (p.Leu481Met)
c.649C>A (p.Leu217Met)
8g.60836198C=CA1788112584CHD7c.3904C= (p.Leu1302=)
c.1717-26031C= (n.1717-26031C=)
c.1891C= (p.Leu631=)
c.1441C= (p.Leu481=)
c.649C= (p.Leu217=)
8g.60836198C>GCA371316356CHD7c.3904C>G (p.Leu1302Val)
c.1717-26031C>G (n.1717-26031C>G)
c.1891C>G (p.Leu631Val)
c.1441C>G (p.Leu481Val)
c.649C>G (p.Leu217Val)
8g.60836198C>TCA460846800CHD7c.3904C>T (p.Leu1302=)
c.1717-26031C>T (n.1717-26031C>T)
c.1891C>T (p.Leu631=)
c.1441C>T (p.Leu481=)
c.649C>T (p.Leu217=)
 gnomAD v4
8g.60836199T>ACA371316357CHD7c.3905T>A (p.Leu1302Gln)
c.1717-26030T>A (n.1717-26030T>A)
c.1892T>A (p.Leu631Gln)
c.1442T>A (p.Leu481Gln)
c.650T>A (p.Leu217Gln)
8g.60836199T>CCA371316358CHD7c.3905T>C (p.Leu1302Pro)
c.1717-26030T>C (n.1717-26030T>C)
c.1892T>C (p.Leu631Pro)
c.1442T>C (p.Leu481Pro)
c.650T>C (p.Leu217Pro)
 ClinVar dbSNP
8g.60836199T>GCA371316359CHD7c.3905T>G (p.Leu1302Arg)
c.1717-26030T>G (n.1717-26030T>G)
c.1892T>G (p.Leu631Arg)
c.1442T>G (p.Leu481Arg)
c.650T>G (p.Leu217Arg)
8g.60836199T=CA1788112602CHD7c.3905T= (p.Leu1302=)
c.1717-26030T= (n.1717-26030T=)
c.1892T= (p.Leu631=)
c.1442T= (p.Leu481=)
c.650T= (p.Leu217=)
8g.60836199_60836200dupCA16618667CHD7c.3905_3906dup (p.Lys1303Ter)
c.1717-26030_1717-26029dup (n.1717-26030_1717-26029dup)
c.1892_1893dup (p.Lys632Ter)
c.1442_1443dup (p.Lys482Ter)
c.650_651dup (p.Lys218Ter)
 ClinVar dbSNP
8g.60836200G>ACA460846801CHD7c.3906G>A (p.Leu1302=)
c.1717-26029G>A (n.1717-26029G>A)
c.1893G>A (p.Leu631=)
c.1443G>A (p.Leu481=)
c.651G>A (p.Leu217=)
8g.60836200G>CCA460846802CHD7c.3906G>C (p.Leu1302=)
c.1717-26029G>C (n.1717-26029G>C)
c.1893G>C (p.Leu631=)
c.1443G>C (p.Leu481=)
c.651G>C (p.Leu217=)
8g.60836200G>TCA460846804CHD7c.3906G>T (p.Leu1302=)
c.1717-26029G>T (n.1717-26029G>T)
c.1893G>T (p.Leu631=)
c.1443G>T (p.Leu481=)
c.651G>T (p.Leu217=)
8g.60836201A>CCA371316360CHD7c.3907A>C (p.Lys1303Gln)
c.1717-26028A>C (n.1717-26028A>C)
c.1894A>C (p.Lys632Gln)
c.1444A>C (p.Lys482Gln)
c.652A>C (p.Lys218Gln)
8g.60836201A>GCA371316361CHD7c.3907A>G (p.Lys1303Glu)
c.1717-26028A>G (n.1717-26028A>G)
c.1894A>G (p.Lys632Glu)
c.1444A>G (p.Lys482Glu)
c.652A>G (p.Lys218Glu)
8g.60836201A>TCA371316362CHD7c.3907A>T (p.Lys1303Ter)
c.1717-26028A>T (n.1717-26028A>T)
c.1894A>T (p.Lys632Ter)
c.1444A>T (p.Lys482Ter)
c.652A>T (p.Lys218Ter)
8g.60836202A>CCA371316364CHD7c.3908A>C (p.Lys1303Thr)
c.1717-26027A>C (n.1717-26027A>C)
c.1895A>C (p.Lys632Thr)
c.1445A>C (p.Lys482Thr)
c.653A>C (p.Lys218Thr)
8g.60836202A>GCA371316365CHD7c.3908A>G (p.Lys1303Arg)
c.1717-26027A>G (n.1717-26027A>G)
c.1895A>G (p.Lys632Arg)
c.1445A>G (p.Lys482Arg)
c.653A>G (p.Lys218Arg)
8g.60836202A>TCA371316363CHD7c.3908A>T (p.Lys1303Met)
c.1717-26027A>T (n.1717-26027A>T)
c.1895A>T (p.Lys632Met)
c.1445A>T (p.Lys482Met)
c.653A>T (p.Lys218Met)
8g.60836203G>ACA460846805CHD7c.3909G>A (p.Lys1303=)
c.1717-26026G>A (n.1717-26026G>A)
c.1896G>A (p.Lys632=)
c.1446G>A (p.Lys482=)
c.654G>A (p.Lys218=)
8g.60836203G>CCA371316366CHD7c.3909G>C (p.Lys1303Asn)
c.1717-26026G>C (n.1717-26026G>C)
c.1896G>C (p.Lys632Asn)
c.1446G>C (p.Lys482Asn)
c.654G>C (p.Lys218Asn)
8g.60836203G=CA1788112614CHD7c.3909G= (p.Lys1303=)
c.1717-26026G= (n.1717-26026G=)
c.1896G= (p.Lys632=)
c.1446G= (p.Lys482=)
c.654G= (p.Lys218=)
8g.60836203G>TCA371316367CHD7c.3909G>T (p.Lys1303Asn)
c.1717-26026G>T (n.1717-26026G>T)
c.1896G>T (p.Lys632Asn)
c.1446G>T (p.Lys482Asn)
c.654G>T (p.Lys218Asn)
 dbSNP gnomAD v2
8g.60836204G>ACA371316368CHD7c.3910G>A (p.Ala1304Thr)
c.1717-26025G>A (n.1717-26025G>A)
c.1897G>A (p.Ala633Thr)
c.1447G>A (p.Ala483Thr)
c.655G>A (p.Ala219Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60836204G>CCA371316369CHD7c.3910G>C (p.Ala1304Pro)
c.1717-26025G>C (n.1717-26025G>C)
c.1897G>C (p.Ala633Pro)
c.1447G>C (p.Ala483Pro)
c.655G>C (p.Ala219Pro)
8g.60836204G=CA1788112617CHD7c.3910G= (p.Ala1304=)
c.1717-26025G= (n.1717-26025G=)
c.1897G= (p.Ala633=)
c.1447G= (p.Ala483=)
c.655G= (p.Ala219=)
8g.60836204G>TCA371316370CHD7c.3910G>T (p.Ala1304Ser)
c.1717-26025G>T (n.1717-26025G>T)
c.1897G>T (p.Ala633Ser)
c.1447G>T (p.Ala483Ser)
c.655G>T (p.Ala219Ser)
8g.60836205C>ACA371316373CHD7c.3911C>A (p.Ala1304Asp)
c.1717-26024C>A (n.1717-26024C>A)
c.1898C>A (p.Ala633Asp)
c.1448C>A (p.Ala483Asp)
c.656C>A (p.Ala219Asp)
8g.60836205C>GCA371316371CHD7c.3911C>G (p.Ala1304Gly)
c.1717-26024C>G (n.1717-26024C>G)
c.1898C>G (p.Ala633Gly)
c.1448C>G (p.Ala483Gly)
c.656C>G (p.Ala219Gly)
8g.60836205C>TCA371316372CHD7c.3911C>T (p.Ala1304Val)
c.1717-26024C>T (n.1717-26024C>T)
c.1898C>T (p.Ala633Val)
c.1448C>T (p.Ala483Val)
c.656C>T (p.Ala219Val)
8g.60836206T>ACA460846808CHD7c.3912T>A (p.Ala1304=)
c.1717-26023T>A (n.1717-26023T>A)
c.1899T>A (p.Ala633=)
c.1449T>A (p.Ala483=)
c.657T>A (p.Ala219=)
8g.60836206T>CCA4760044CHD7c.3912T>C (p.Ala1304=)
c.1717-26023T>C (n.1717-26023T>C)
c.1899T>C (p.Ala633=)
c.1449T>C (p.Ala483=)
c.657T>C (p.Ala219=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60836206T>GCA4760043CHD7c.3912T>G (p.Ala1304=)
c.1717-26023T>G (n.1717-26023T>G)
c.1899T>G (p.Ala633=)
c.1449T>G (p.Ala483=)
c.657T>G (p.Ala219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60836206T=CA1788112633CHD7c.3912T= (p.Ala1304=)
c.1717-26023T= (n.1717-26023T=)
c.1899T= (p.Ala633=)
c.1449T= (p.Ala483=)
c.657T= (p.Ala219=)
8g.60836207G>ACA371316374CHD7c.3913G>A (p.Gly1305Ser)
c.1717-26022G>A (n.1717-26022G>A)
c.1900G>A (p.Gly634Ser)
c.1450G>A (p.Gly484Ser)
c.658G>A (p.Gly220Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60836207G>CCA371316375CHD7c.3913G>C (p.Gly1305Arg)
c.1717-26022G>C (n.1717-26022G>C)
c.1900G>C (p.Gly634Arg)
c.1450G>C (p.Gly484Arg)
c.658G>C (p.Gly220Arg)
8g.60836207G=CA1788112639CHD7c.3913G= (p.Gly1305=)
c.1717-26022G= (n.1717-26022G=)
c.1900G= (p.Gly634=)
c.1450G= (p.Gly484=)
c.658G= (p.Gly220=)
8g.60836207G>TCA371316376CHD7c.3913G>T (p.Gly1305Cys)
c.1717-26022G>T (n.1717-26022G>T)
c.1900G>T (p.Gly634Cys)
c.1450G>T (p.Gly484Cys)
c.658G>T (p.Gly220Cys)
8g.60836208G>ACA371316377CHD7c.3914G>A (p.Gly1305Asp)
c.1717-26021G>A (n.1717-26021G>A)
c.1901G>A (p.Gly634Asp)
c.1451G>A (p.Gly484Asp)
c.659G>A (p.Gly220Asp)
 gnomAD v4
8g.60836208G>CCA371316379CHD7c.3914G>C (p.Gly1305Ala)
c.1717-26021G>C (n.1717-26021G>C)
c.1901G>C (p.Gly634Ala)
c.1451G>C (p.Gly484Ala)
c.659G>C (p.Gly220Ala)
8g.60836208G>TCA371316378CHD7c.3914G>T (p.Gly1305Val)
c.1717-26021G>T (n.1717-26021G>T)
c.1901G>T (p.Gly634Val)
c.1451G>T (p.Gly484Val)
c.659G>T (p.Gly220Val)

Number of alleles fetched