Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119670150_119670151del | CA645568590 | BAG3 | c.480_481del (p.Gln161AlafsTer8) c.306_307del (p.Gln103AlafsTer8) | COSMIC |
10 | g.119670151C>A | CA378295173 | BAG3 | c.481C>A (p.Gln161Lys) c.307C>A (p.Gln103Lys) | |
10 | g.119670151C= | CA1940191323 | BAG3 | c.481C= (p.Gln161=) c.307C= (p.Gln103=) | |
10 | g.119670151C>G | CA378295174 | BAG3 | c.481C>G (p.Gln161Glu) c.307C>G (p.Gln103Glu) | |
10 | g.119670151C>T | CA10587694 | BAG3 | c.481C>T (p.Gln161Ter) c.307C>T (p.Gln103Ter) | ClinVar dbSNP |
10 | g.119670152A= | CA1940191328 | BAG3 | c.482A= (p.Gln161=) c.308A= (p.Gln103=) | |
10 | g.119670152A>C | CA378295175 | BAG3 | c.482A>C (p.Gln161Pro) c.308A>C (p.Gln103Pro) | |
10 | g.119670152A>G | CA378295176 | BAG3 | c.482A>G (p.Gln161Arg) c.308A>G (p.Gln103Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119670152A>T | CA378295177 | BAG3 | c.482A>T (p.Gln161Leu) c.308A>T (p.Gln103Leu) | |
10 | g.119670153G>A | CA5716331 | BAG3 | c.483G>A (p.Gln161=) c.309G>A (p.Gln103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670153G>C | CA378295178 | BAG3 | c.483G>C (p.Gln161His) c.309G>C (p.Gln103His) | |
10 | g.119670153G= | CA1940191330 | BAG3 | c.483G= (p.Gln161=) c.309G= (p.Gln103=) | |
10 | g.119670153G>T | CA378295179 | BAG3 | c.483G>T (p.Gln161His) c.309G>T (p.Gln103His) | |
10 | g.119670153_119670154delinsGC | CA1940191329 | BAG3 | c.483_484delinsGC (p.Gln161=) c.309_310delinsGC (p.Gln103=) | |
10 | g.119670154C>A | CA378295180 | BAG3 | c.484C>A (p.Pro162Thr) c.310C>A (p.Pro104Thr) | ClinVar dbSNP gnomAD v4 |
10 | g.119670154C>G | CA378295181 | BAG3 | c.484C>G (p.Pro162Ala) c.310C>G (p.Pro104Ala) | |
10 | g.119670154C>T | CA378295182 | BAG3 | c.484C>T (p.Pro162Ser) c.310C>T (p.Pro104Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.119670158dup | CA2611159848 | BAG3 | c.488dup (p.Ala164SerfsTer6) c.314dup (p.Ala106SerfsTer6) | gnomAD v4 |
10 | g.119670158del | CA933132626 | BAG3 | c.488del (p.Pro163GlnfsTer?) c.314del (p.Pro105GlnfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670155C>A | CA378295183 | BAG3 | c.485C>A (p.Pro162His) c.311C>A (p.Pro104His) | |
10 | g.119670155C= | CA1940191332 | BAG3 | c.485C= (p.Pro162=) c.311C= (p.Pro104=) | |
10 | g.119670155C>G | CA378295184 | BAG3 | c.485C>G (p.Pro162Arg) c.311C>G (p.Pro104Arg) | |
10 | g.119670155C>T | CA5716332 | BAG3 | c.485C>T (p.Pro162Leu) c.311C>T (p.Pro104Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670156C>A | CA471634608 | BAG3 | c.486C>A (p.Pro162=) c.312C>A (p.Pro104=) | |
10 | g.119670156C>G | CA471634609 | BAG3 | c.486C>G (p.Pro162=) c.312C>G (p.Pro104=) | |
10 | g.119670156C>T | CA471634610 | BAG3 | c.486C>T (p.Pro162=) c.312C>T (p.Pro104=) | |
10 | g.119670157C>A | CA378295185 | BAG3 | c.487C>A (p.Pro163Thr) c.313C>A (p.Pro105Thr) | |
10 | g.119670157C= | CA1940191337 | BAG3 | c.487C= (p.Pro163=) c.313C= (p.Pro105=) | |
10 | g.119670157C>G | CA378295186 | BAG3 | c.487C>G (p.Pro163Ala) c.313C>G (p.Pro105Ala) | |
10 | g.119670157C>T | CA241532 | BAG3 | c.487C>T (p.Pro163Ser) c.313C>T (p.Pro105Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670158C>A | CA378295187 | BAG3 | c.488C>A (p.Pro163Gln) c.314C>A (p.Pro105Gln) | |
10 | g.119670158C>G | CA378295188 | BAG3 | c.488C>G (p.Pro163Arg) c.314C>G (p.Pro105Arg) | |
10 | g.119670158C>T | CA378295189 | BAG3 | c.488C>T (p.Pro163Leu) c.314C>T (p.Pro105Leu) | |
10 | g.119670159A>C | CA471634611 | BAG3 | c.489A>C (p.Pro163=) c.315A>C (p.Pro105=) | dbSNP |
10 | g.119670159A>G | CA471634612 | BAG3 | c.489A>G (p.Pro163=) c.315A>G (p.Pro105=) | |
10 | g.119670159A>T | CA471634613 | BAG3 | c.489A>T (p.Pro163=) c.315A>T (p.Pro105=) | |
10 | g.119670160G>A | CA378295190 | BAG3 | c.490G>A (p.Ala164Thr) c.316G>A (p.Ala106Thr) | dbSNP gnomAD v4 |
10 | g.119670160G>C | CA378295191 | BAG3 | c.490G>C (p.Ala164Pro) c.316G>C (p.Ala106Pro) | gnomAD v4 |
10 | g.119670160G= | CA1940191339 | BAG3 | c.490G= (p.Ala164=) c.316G= (p.Ala106=) | |
10 | g.119670160G>T | CA378295192 | BAG3 | c.490G>T (p.Ala164Ser) c.316G>T (p.Ala106Ser) | ClinVar gnomAD v4 |
10 | g.119670161C>A | CA378295195 | BAG3 | c.491C>A (p.Ala164Asp) c.317C>A (p.Ala106Asp) | |
10 | g.119670161C>G | CA378295194 | BAG3 | c.491C>G (p.Ala164Gly) c.317C>G (p.Ala106Gly) | |
10 | g.119670161C>T | CA378295193 | BAG3 | c.491C>T (p.Ala164Val) c.317C>T (p.Ala106Val) | |
10 | g.119670162C>A | CA471634617 | BAG3 | c.492C>A (p.Ala164=) c.318C>A (p.Ala106=) | |
10 | g.119670162C>G | CA471634618 | BAG3 | c.492C>G (p.Ala164=) c.318C>G (p.Ala106=) | |
10 | g.119670162C>T | CA471634619 | BAG3 | c.492C>T (p.Ala164=) c.318C>T (p.Ala106=) | gnomAD v4 |
10 | g.119670163T>A | CA378295196 | BAG3 | c.493T>A (p.Ser165Thr) c.319T>A (p.Ser107Thr) | |
10 | g.119670163T>C | CA378295197 | BAG3 | c.493T>C (p.Ser165Pro) c.319T>C (p.Ser107Pro) | |
10 | g.119670163T>G | CA378295198 | BAG3 | c.493T>G (p.Ser165Ala) c.319T>G (p.Ser107Ala) | |
10 | g.119670164C>A | CA378295199 | BAG3 | c.494C>A (p.Ser165Tyr) c.320C>A (p.Ser107Tyr) | |
10 | g.119670164C= | CA1940191342 | BAG3 | c.494C= (p.Ser165=) c.320C= (p.Ser107=) | |
10 | g.119670164C>G | CA378295200 | BAG3 | c.494C>G (p.Ser165Cys) c.320C>G (p.Ser107Cys) | |
10 | g.119670164C>T | CA5716333 | BAG3 | c.494C>T (p.Ser165Phe) c.320C>T (p.Ser107Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670166del | CA2842451320 | BAG3 | c.496del (p.His166ThrfsTer?) c.322del (p.His108ThrfsTer?) | |
10 | g.119670165C>A | CA471634621 | BAG3 | c.495C>A (p.Ser165=) c.321C>A (p.Ser107=) | |
10 | g.119670165C= | CA1940191344 | BAG3 | c.495C= (p.Ser165=) c.321C= (p.Ser107=) | |
10 | g.119670165C>G | CA5716334 | BAG3 | c.495C>G (p.Ser165=) c.321C>G (p.Ser107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119670165C>T | CA214220272 | BAG3 | c.495C>T (p.Ser165=) c.321C>T (p.Ser107=) | ClinVar dbSNP gnomAD v4 |
10 | g.119670166C>A | CA378295201 | BAG3 | c.496C>A (p.His166Asn) c.322C>A (p.His108Asn) | |
10 | g.119670166C>G | CA378295202 | BAG3 | c.496C>G (p.His166Asp) c.322C>G (p.His108Asp) | |
10 | g.119670166C>T | CA378295203 | BAG3 | c.496C>T (p.His166Tyr) c.322C>T (p.His108Tyr) | |
10 | g.119670167A>C | CA378295206 | BAG3 | c.497A>C (p.His166Pro) c.323A>C (p.His108Pro) | |
10 | g.119670167A>G | CA378295205 | BAG3 | c.497A>G (p.His166Arg) c.323A>G (p.His108Arg) | |
10 | g.119670167A>T | CA378295204 | BAG3 | c.497A>T (p.His166Leu) c.323A>T (p.His108Leu) | |
10 | g.119670168C>A | CA378295207 | BAG3 | c.498C>A (p.His166Gln) c.324C>A (p.His108Gln) | |
10 | g.119670168C= | CA1940191350 | BAG3 | c.498C= (p.His166=) c.324C= (p.His108=) | |
10 | g.119670168C>G | CA378295208 | BAG3 | c.498C>G (p.His166Gln) c.324C>G (p.His108Gln) | |
10 | g.119670168C>T | CA5716335 | BAG3 | c.498C>T (p.His166=) c.324C>T (p.His108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670169G>A | CA5716336 | BAG3 | c.499G>A (p.Gly167Arg) c.325G>A (p.Gly109Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670169G>C | CA378295209 | BAG3 | c.499G>C (p.Gly167Arg) c.325G>C (p.Gly109Arg) | |
10 | g.119670169G= | CA1940191353 | BAG3 | c.499G= (p.Gly167=) c.325G= (p.Gly109=) | |
10 | g.119670169G>T | CA378295210 | BAG3 | c.499G>T (p.Gly167Ter) c.325G>T (p.Gly109Ter) | |
10 | g.119670170G>A | CA378295211 | BAG3 | c.500G>A (p.Gly167Glu) c.326G>A (p.Gly109Glu) | |
10 | g.119670170G>C | CA378295212 | BAG3 | c.500G>C (p.Gly167Ala) c.326G>C (p.Gly109Ala) | |
10 | g.119670170G>T | CA378295213 | BAG3 | c.500G>T (p.Gly167Val) c.326G>T (p.Gly109Val) | |
10 | g.119670171A= | CA1940191358 | BAG3 | c.501A= (p.Gly167=) c.327A= (p.Gly109=) | |
10 | g.119670171A>C | CA471634624 | BAG3 | c.501A>C (p.Gly167=) c.327A>C (p.Gly109=) | |
10 | g.119670171A>G | CA471634625 | BAG3 | c.501A>G (p.Gly167=) c.327A>G (p.Gly109=) | ClinVar dbSNP |
10 | g.119670171A>T | CA471634626 | BAG3 | c.501A>T (p.Gly167=) c.327A>T (p.Gly109=) | |
10 | g.119670172C>A | CA378295214 | BAG3 | c.502C>A (p.Pro168Thr) c.328C>A (p.Pro110Thr) | |
10 | g.119670172C= | CA1940191362 | BAG3 | c.502C= (p.Pro168=) c.328C= (p.Pro110=) | |
10 | g.119670172C>G | CA378295215 | BAG3 | c.502C>G (p.Pro168Ala) c.328C>G (p.Pro110Ala) | gnomAD v4 |
10 | g.119670172C>T | CA378295216 | BAG3 | c.502C>T (p.Pro168Ser) c.328C>T (p.Pro110Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.119670173C>A | CA378295218 | BAG3 | c.503C>A (p.Pro168His) c.329C>A (p.Pro110His) | |
10 | g.119670173C= | CA1940191365 | BAG3 | c.503C= (p.Pro168=) c.329C= (p.Pro110=) | |
10 | g.119670173C>G | CA378295217 | BAG3 | c.503C>G (p.Pro168Arg) c.329C>G (p.Pro110Arg) | gnomAD v4 |
10 | g.119670173C>T | CA214220291 | BAG3 | c.503C>T (p.Pro168Leu) c.329C>T (p.Pro110Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670174T>A | CA471634628 | BAG3 | c.504T>A (p.Pro168=) c.330T>A (p.Pro110=) | |
10 | g.119670174T>C | CA471634629 | BAG3 | c.504T>C (p.Pro168=) c.330T>C (p.Pro110=) | |
10 | g.119670174T>G | CA471634630 | BAG3 | c.504T>G (p.Pro168=) c.330T>G (p.Pro110=) | |
10 | g.119670175G>A | CA378295219 | BAG3 | c.505G>A (p.Glu169Lys) c.331G>A (p.Glu111Lys) | |
10 | g.119670175G>C | CA378295221 | BAG3 | c.505G>C (p.Glu169Gln) c.331G>C (p.Glu111Gln) | |
10 | g.119670175G>T | CA378295220 | BAG3 | c.505G>T (p.Glu169Ter) c.331G>T (p.Glu111Ter) | |
10 | g.119670176A>C | CA378295222 | BAG3 | c.506A>C (p.Glu169Ala) c.332A>C (p.Glu111Ala) | |
10 | g.119670176A>G | CA378295223 | BAG3 | c.506A>G (p.Glu169Gly) c.332A>G (p.Glu111Gly) | gnomAD v4 |
10 | g.119670176A>T | CA378295224 | BAG3 | c.506A>T (p.Glu169Val) c.332A>T (p.Glu111Val) | |
10 | g.119670177G>A | CA471634632 | BAG3 | c.507G>A (p.Glu169=) c.333G>A (p.Glu111=) | |
10 | g.119670177G>C | CA16612844 | BAG3 | c.507G>C (p.Glu169Asp) c.333G>C (p.Glu111Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119670177G= | CA1940191367 | BAG3 | c.507G= (p.Glu169=) c.333G= (p.Glu111=) | |
10 | g.119670177G>T | CA378295225 | BAG3 | c.507G>T (p.Glu169Asp) c.333G>T (p.Glu111Asp) | |
10 | g.119670178G>A | CA378295226 | BAG3 | c.507+1G>A (n.507+1G>A) c.333+1G>A (n.333+1G>A) | |
10 | g.119670178G>C | CA378295227 | BAG3 | c.507+1G>C (n.507+1G>C) c.333+1G>C (n.333+1G>C) | |
10 | g.119670178G>T | CA378295228 | BAG3 | c.507+1G>T (n.507+1G>T) c.333+1G>T (n.333+1G>T) | gnomAD v4 |
10 | g.119670179T>A | CA378295229 | BAG3 | c.507+2T>A (n.507+2T>A) c.333+2T>A (n.333+2T>A) | |
10 | g.119670179T>C | CA378295230 | BAG3 | c.507+2T>C (n.507+2T>C) c.333+2T>C (n.333+2T>C) | |
10 | g.119670179T>G | CA378295231 | BAG3 | c.507+2T>G (n.507+2T>G) c.333+2T>G (n.333+2T>G) | dbSNP |
10 | g.119670181A>G | CA2611159849 | BAG3 | c.507+4A>G (n.507+4A>G) c.333+4A>G (n.333+4A>G) | gnomAD v4 |
10 | g.119670182G>A | CA2580082419 | BAG3 | c.507+5G>A (n.507+5G>A) c.333+5G>A (n.333+5G>A) | ClinVar gnomAD v4 |
10 | g.119670182G>T | CA2611159850 | BAG3 | c.507+5G>T (n.507+5G>T) c.333+5G>T (n.333+5G>T) | gnomAD v4 |
10 | g.119670184A>G | CA2499220170 | BAG3 | c.507+7A>G (n.507+7A>G) c.333+7A>G (n.333+7A>G) | ClinVar dbSNP |
10 | g.119670184_119670228delinsAGAGGCCAGGCTCACCAGCCTGCTGGGGAGCAAGCCGCTGTGCTT | CA1940191369 | BAG3 | c.507+7_507+51delinsAGAGGCCAGGCTCACCAGCCTGCTGGGGAGCAAGCCGCTGTGCTT (n.507+7_507+51delinsAGAGGCCAGGCTCACCAGCCTGCTGGGGAGCAAGCCGCTGTGCTT) c.333+7_333+51delinsAGAGGCCAGGCTCACCAGCCTGCTGGGGAGCAAGCCGCTGTGCTT (n.333+7_333+51delinsAGAGGCCAGGCTCACCAGCCTGCTGGGGAGCAAGCCGCTGTGCTT) | |
10 | g.119670185G>T | CA2611159851 | BAG3 | c.507+8G>T (n.507+8G>T) c.333+8G>T (n.333+8G>T) | gnomAD v4 |
10 | g.119670185_119670228del | CA5716337 | BAG3 | c.507+8_507+51del (n.507+8_507+51del) c.333+8_333+51del (n.333+8_333+51del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119670187G>A | CA214220301 | BAG3 | c.507+10G>A (n.507+10G>A) c.333+10G>A (n.333+10G>A) | ClinVar dbSNP |
10 | g.119670187G= | CA1940191373 | BAG3 | c.507+10G= (n.507+10G=) c.333+10G= (n.333+10G=) | |
10 | g.119670189C>A | CA2838529389 | BAG3 | c.507+12C>A (n.507+12C>A) c.333+12C>A (n.333+12C>A) | |
10 | g.119670189C>T | CA2839698649 | BAG3 | c.507+12C>T (n.507+12C>T) c.333+12C>T (n.333+12C>T) | |
10 | g.119670191A>C | CA2611159852 | BAG3 | c.507+14A>C (n.507+14A>C) c.333+14A>C (n.333+14A>C) | gnomAD v4 |
10 | g.119670192G>C | CA5716338 | BAG3 | c.507+15G>C (n.507+15G>C) c.333+15G>C (n.333+15G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119670192G= | CA1940191377 | BAG3 | c.507+15G= (n.507+15G=) c.333+15G= (n.333+15G=) | |
10 | g.119670192G>T | CA2611159853 | BAG3 | c.507+15G>T (n.507+15G>T) c.333+15G>T (n.333+15G>T) | gnomAD v4 |
10 | g.119670192_119670216delinsGGCTCACCAGCCTGCTGGGGAGCAA | CA1940191375 | BAG3 | c.507+15_507+39delinsGGCTCACCAGCCTGCTGGGGAGCAA (n.507+15_507+39delinsGGCTCACCAGCCTGCTGGGGAGCAA) c.333+15_333+39delinsGGCTCACCAGCCTGCTGGGGAGCAA (n.333+15_333+39delinsGGCTCACCAGCCTGCTGGGGAGCAA) | |
10 | g.119670193G>A | CA5716340 | BAG3 | c.507+16G>A (n.507+16G>A) c.333+16G>A (n.333+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670193G= | CA1940191380 | BAG3 | c.507+16G= (n.507+16G=) c.333+16G= (n.333+16G=) | |
10 | g.119670193G>T | CA660663569 | BAG3 | c.507+16G>T (n.507+16G>T) c.333+16G>T (n.333+16G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670195_119670218del | CA5716339 | BAG3 | c.507+18_507+41del (n.507+18_507+41del) c.333+18_333+41del (n.333+18_333+41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670194C>A | CA2611159854 | BAG3 | c.507+17C>A (n.507+17C>A) c.333+17C>A (n.333+17C>A) | gnomAD v4 |
10 | g.119670194C>T | CA2499220171 | BAG3 | c.507+17C>T (n.507+17C>T) c.333+17C>T (n.333+17C>T) | ClinVar dbSNP |
10 | g.119670195T>C | CA289664 | BAG3 | c.507+18T>C (n.507+18T>C) c.333+18T>C (n.333+18T>C) | ClinVar dbSNP gnomAD v4 |
10 | g.119670195T= | CA1940191384 | BAG3 | c.507+18T= (n.507+18T=) c.333+18T= (n.333+18T=) | |
10 | g.119670196C>A | CA2611159855 | BAG3 | c.507+19C>A (n.507+19C>A) c.333+19C>A (n.333+19C>A) | gnomAD v4 |
10 | g.119670196C>T | CA2539184080 | BAG3 | c.507+19C>T (n.507+19C>T) c.333+19C>T (n.333+19C>T) | dbSNP gnomAD v4 |
10 | g.119670197A>C | CA2574457113 | BAG3 | c.507+20A>C (n.507+20A>C) c.333+20A>C (n.333+20A>C) | gnomAD v4 |
10 | g.119670199C>A | CA596325800 | BAG3 | c.507+22C>A (n.507+22C>A) c.333+22C>A (n.333+22C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119670199C= | CA1940191388 | BAG3 | c.507+22C= (n.507+22C=) c.333+22C= (n.333+22C=) | |
10 | g.119670199C>T | CA2611159856 | BAG3 | c.507+22C>T (n.507+22C>T) c.333+22C>T (n.333+22C>T) | gnomAD v4 |
10 | g.119670201G>A | CA2611159857 | BAG3 | c.507+24G>A (n.507+24G>A) c.333+24G>A (n.333+24G>A) | gnomAD v4 |
10 | g.119670201G>T | CA2611159858 | BAG3 | c.507+24G>T (n.507+24G>T) c.333+24G>T (n.333+24G>T) | gnomAD v4 |
10 | g.119670202C>A | CA2611159859 | BAG3 | c.507+25C>A (n.507+25C>A) c.333+25C>A (n.333+25C>A) | gnomAD v4 |
10 | g.119670202C>T | CA2611159860 | BAG3 | c.507+25C>T (n.507+25C>T) c.333+25C>T (n.333+25C>T) | gnomAD v4 |
10 | g.119670203C>A | CA2532052845 | BAG3 | c.507+26C>A (n.507+26C>A) c.333+26C>A (n.333+26C>A) | gnomAD v4 |
10 | g.119670203_119670204delinsCT | CA1940191390 | BAG3 | c.507+26_507+27delinsCT (n.507+26_507+27delinsCT) c.333+26_333+27delinsCT (n.333+26_333+27delinsCT) | |
10 | g.119670204del | CA5716341 | BAG3 | c.507+27del (n.507+27del) c.333+27del (n.333+27del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119670204T>G | CA2574457114 | BAG3 | c.507+27T>G (n.507+27T>G) c.333+27T>G (n.333+27T>G) | gnomAD v4 |
10 | g.119670205G>A | CA2611159861 | BAG3 | c.507+28G>A (n.507+28G>A) c.333+28G>A (n.333+28G>A) | gnomAD v4 |
10 | g.119670205G>C | CA2574457115 | BAG3 | c.507+28G>C (n.507+28G>C) c.333+28G>C (n.333+28G>C) | |
10 | g.119670205G>T | CA2611159862 | BAG3 | c.507+28G>T (n.507+28G>T) c.333+28G>T (n.333+28G>T) | gnomAD v4 |
10 | g.119670206C>A | CA2611159863 | BAG3 | c.507+29C>A (n.507+29C>A) c.333+29C>A (n.333+29C>A) | gnomAD v4 |
10 | g.119670206C= | CA1940191392 | BAG3 | c.507+29C= (n.507+29C=) c.333+29C= (n.333+29C=) | |
10 | g.119670206C>G | CA596325802 | BAG3 | c.507+29C>G (n.507+29C>G) c.333+29C>G (n.333+29C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119670206C>T | CA596325803 | BAG3 | c.507+29C>T (n.507+29C>T) c.333+29C>T (n.333+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119670207T>C | CA1940191396 | BAG3 | c.507+30T>C (n.507+30T>C) c.333+30T>C (n.333+30T>C) | dbSNP gnomAD v4 |
10 | g.119670207T>G | CA5716342 | BAG3 | c.507+30T>G (n.507+30T>G) c.333+30T>G (n.333+30T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119670207T= | CA1940191395 | BAG3 | c.507+30T= (n.507+30T=) c.333+30T= (n.333+30T=) | |
10 | g.119670208G>A | CA1940191400 | BAG3 | c.507+31G>A (n.507+31G>A) c.333+31G>A (n.333+31G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670208G= | CA1940191398 | BAG3 | c.507+31G= (n.507+31G=) c.333+31G= (n.333+31G=) | |
10 | g.119670208G>T | CA2611159865 | BAG3 | c.507+31G>T (n.507+31G>T) c.333+31G>T (n.333+31G>T) | gnomAD v4 |
10 | g.119670211dup | CA2611159864 | BAG3 | c.507+34dup (n.507+34dup) c.333+34dup (n.333+34dup) | gnomAD v4 |
10 | g.119670211del | CA2574457116 | BAG3 | c.507+34del (n.507+34del) c.333+34del (n.333+34del) | gnomAD v4 |
10 | g.119670209G>A | CA2611159866 | BAG3 | c.507+32G>A (n.507+32G>A) c.333+32G>A (n.333+32G>A) | gnomAD v4 |
10 | g.119670209G>T | CA2611159867 | BAG3 | c.507+32G>T (n.507+32G>T) c.333+32G>T (n.333+32G>T) | gnomAD v4 |
10 | g.119670210G>A | CA2611159868 | BAG3 | c.507+33G>A (n.507+33G>A) c.333+33G>A (n.333+33G>A) | gnomAD v4 |
10 | g.119670210G>T | CA2574457117 | BAG3 | c.507+33G>T (n.507+33G>T) c.333+33G>T (n.333+33G>T) | gnomAD v4 |
10 | g.119670211G>A | CA1940191403 | BAG3 | c.507+34G>A (n.507+34G>A) c.333+34G>A (n.333+34G>A) | dbSNP gnomAD v4 |
10 | g.119670211G= | CA1940191401 | BAG3 | c.507+34G= (n.507+34G=) c.333+34G= (n.333+34G=) | |
10 | g.119670213G>A | CA1940191408 | BAG3 | c.507+36G>A (n.507+36G>A) c.333+36G>A (n.333+36G>A) | dbSNP gnomAD v4 |
10 | g.119670213G>C | CA5716343 | BAG3 | c.507+36G>C (n.507+36G>C) c.333+36G>C (n.333+36G>C) | dbSNP ExAC gnomAD v4 |
10 | g.119670213G= | CA1940191406 | BAG3 | c.507+36G= (n.507+36G=) c.333+36G= (n.333+36G=) | |
10 | g.119670214C>A | CA5716344 | BAG3 | c.507+37C>A (n.507+37C>A) c.333+37C>A (n.333+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670214C= | CA1940191410 | BAG3 | c.507+37C= (n.507+37C=) c.333+37C= (n.333+37C=) | |
10 | g.119670214C>T | CA596325806 | BAG3 | c.507+37C>T (n.507+37C>T) c.333+37C>T (n.333+37C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119670215A>C | CA2611159869 | BAG3 | c.507+38A>C (n.507+38A>C) c.333+38A>C (n.333+38A>C) | gnomAD v4 |
10 | g.119670215_119670220del | CA2611159870 | BAG3 | c.507+38_507+43del (n.507+38_507+43del) c.333+38_333+43del (n.333+38_333+43del) | gnomAD v4 |
10 | g.119670216A= | CA1940191411 | BAG3 | c.507+39A= (n.507+39A=) c.333+39A= (n.333+39A=) | |
10 | g.119670216A>C | CA214220357 | BAG3 | c.507+39A>C (n.507+39A>C) c.333+39A>C (n.333+39A>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670216A>T | CA2611159871 | BAG3 | c.507+39A>T (n.507+39A>T) c.333+39A>T (n.333+39A>T) | gnomAD v4 |
10 | g.119670217G>A | CA2611159872 | BAG3 | c.507+40G>A (n.507+40G>A) c.333+40G>A (n.333+40G>A) | gnomAD v4 |
10 | g.119670217G>T | CA2611159873 | BAG3 | c.507+40G>T (n.507+40G>T) c.333+40G>T (n.333+40G>T) | gnomAD v4 |
10 | g.119670218C>A | CA2611159874 | BAG3 | c.507+41C>A (n.507+41C>A) c.333+41C>A (n.333+41C>A) | gnomAD v4 |
10 | g.119670218C= | CA1940191413 | BAG3 | c.507+41C= (n.507+41C=) c.333+41C= (n.333+41C=) | |
10 | g.119670218C>G | CA2611159875 | BAG3 | c.507+41C>G (n.507+41C>G) c.333+41C>G (n.333+41C>G) | gnomAD v4 |
10 | g.119670218C>T | CA5716345 | BAG3 | c.507+41C>T (n.507+41C>T) c.333+41C>T (n.333+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670219C>A | CA2611159876 | BAG3 | c.507+42C>A (n.507+42C>A) c.333+42C>A (n.333+42C>A) | gnomAD v4 |
10 | g.119670219C= | CA1940191415 | BAG3 | c.507+42C= (n.507+42C=) c.333+42C= (n.333+42C=) | |
10 | g.119670219C>G | CA933132664 | BAG3 | c.507+42C>G (n.507+42C>G) c.333+42C>G (n.333+42C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670219C>T | CA5716346 | BAG3 | c.507+42C>T (n.507+42C>T) c.333+42C>T (n.333+42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670220G>A | CA5716347 | BAG3 | c.507+43G>A (n.507+43G>A) c.333+43G>A (n.333+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670220G= | CA1940191418 | BAG3 | c.507+43G= (n.507+43G=) c.333+43G= (n.333+43G=) | |
10 | g.119670220G>T | CA660663597 | BAG3 | c.507+43G>T (n.507+43G>T) c.333+43G>T (n.333+43G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670221C= | CA1940191420 | BAG3 | c.507+44C= (n.507+44C=) c.333+44C= (n.333+44C=) | |
10 | g.119670221C>T | CA5716348 | BAG3 | c.507+44C>T (n.507+44C>T) c.333+44C>T (n.333+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119670224_119670225del | CA2842451321 | BAG3 | c.507+47_507+48del (n.507+47_507+48del) c.333+47_333+48del (n.333+47_333+48del) | |
10 | g.119670223G>A | CA2611159878 | BAG3 | c.507+46G>A (n.507+46G>A) c.333+46G>A (n.333+46G>A) | gnomAD v4 |
10 | g.119670223G>T | CA2574457118 | BAG3 | c.507+46G>T (n.507+46G>T) c.333+46G>T (n.333+46G>T) | gnomAD v4 |
10 | g.119670224_119670233del | CA2611159877 | BAG3 | c.507+47_507+56del (n.507+47_507+56del) c.333+47_333+56del (n.333+47_333+56del) | gnomAD v4 |
10 | g.119670224T>C | CA2611159879 | BAG3 | c.507+47T>C (n.507+47T>C) c.333+47T>C (n.333+47T>C) | gnomAD v4 |
10 | g.119670225G>A | CA1940191424 | BAG3 | c.507+48G>A (n.507+48G>A) c.333+48G>A (n.333+48G>A) | dbSNP gnomAD v4 |
10 | g.119670225G= | CA1940191423 | BAG3 | c.507+48G= (n.507+48G=) c.333+48G= (n.333+48G=) | |
10 | g.119670225G>T | CA2611159880 | BAG3 | c.507+48G>T (n.507+48G>T) c.333+48G>T (n.333+48G>T) | gnomAD v4 |
10 | g.119670226C>A | CA2611159881 | BAG3 | c.507+49C>A (n.507+49C>A) c.333+49C>A (n.333+49C>A) | gnomAD v4 |
10 | g.119670226C>T | CA2611159882 | BAG3 | c.507+49C>T (n.507+49C>T) c.333+49C>T (n.333+49C>T) | gnomAD v4 |
10 | g.119670228T>C | CA5716349 | BAG3 | c.507+51T>C (n.507+51T>C) c.333+51T>C (n.333+51T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670228T= | CA1940191425 | BAG3 | c.507+51T= (n.507+51T=) c.333+51T= (n.333+51T=) | |
10 | g.119670229C>A | CA2611159884 | BAG3 | c.507+52C>A (n.507+52C>A) c.333+52C>A (n.333+52C>A) | gnomAD v4 |
10 | g.119670229C>T | CA2611159885 | BAG3 | c.507+52C>T (n.507+52C>T) c.333+52C>T (n.333+52C>T) | gnomAD v4 |
10 | g.119670231del | CA2611159883 | BAG3 | c.507+54del (n.507+54del) c.333+54del (n.333+54del) | gnomAD v4 |
10 | g.119670230C>A | CA2611159886 | BAG3 | c.507+53C>A (n.507+53C>A) c.333+53C>A (n.333+53C>A) | gnomAD v4 |
10 | g.119670230C= | CA1940191428 | BAG3 | c.507+53C= (n.507+53C=) c.333+53C= (n.333+53C=) | |
10 | g.119670230C>G | CA2611159887 | BAG3 | c.507+53C>G (n.507+53C>G) c.333+53C>G (n.333+53C>G) | gnomAD v4 |
10 | g.119670230C>T | CA660663601 | BAG3 | c.507+53C>T (n.507+53C>T) c.333+53C>T (n.333+53C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670231C>A | CA660663604 | BAG3 | c.507+54C>A (n.507+54C>A) c.333+54C>A (n.333+54C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670231C= | CA1940191430 | BAG3 | c.507+54C= (n.507+54C=) c.333+54C= (n.333+54C=) | |
10 | g.119670231C>G | CA2611159888 | BAG3 | c.507+54C>G (n.507+54C>G) c.333+54C>G (n.333+54C>G) | gnomAD v4 |
10 | g.119670231C>T | CA2611159889 | BAG3 | c.507+54C>T (n.507+54C>T) c.333+54C>T (n.333+54C>T) | gnomAD v4 |
10 | g.119670232A>G | CA2611159890 | BAG3 | c.507+55A>G (n.507+55A>G) c.333+55A>G (n.333+55A>G) | gnomAD v4 |
10 | g.119670233G>A | CA2611159892 | BAG3 | c.507+56G>A (n.507+56G>A) c.333+56G>A (n.333+56G>A) | gnomAD v4 |
10 | g.119670233G>C | CA2611159891 | BAG3 | c.507+56G>C (n.507+56G>C) c.333+56G>C (n.333+56G>C) | gnomAD v4 |
10 | g.119670233G= | CA1940191432 | BAG3 | c.507+56G= (n.507+56G=) c.333+56G= (n.333+56G=) | |
10 | g.119670233G>T | CA660663605 | BAG3 | c.507+56G>T (n.507+56G>T) c.333+56G>T (n.333+56G>T) | dbSNP gnomAD v4 |
10 | g.119670234G>A | CA2611159893 | BAG3 | c.507+57G>A (n.507+57G>A) c.333+57G>A (n.333+57G>A) | gnomAD v4 |
10 | g.119670234G>T | CA2611159894 | BAG3 | c.507+57G>T (n.507+57G>T) c.333+57G>T (n.333+57G>T) | gnomAD v4 |
10 | g.119670235C>A | CA2611159895 | BAG3 | c.507+58C>A (n.507+58C>A) c.333+58C>A (n.333+58C>A) | gnomAD v4 |
10 | g.119670235C= | CA1940191437 | BAG3 | c.507+58C= (n.507+58C=) c.333+58C= (n.333+58C=) | |
10 | g.119670235C>T | CA214220404 | BAG3 | c.507+58C>T (n.507+58C>T) c.333+58C>T (n.333+58C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670236C>A | CA2611159896 | BAG3 | c.507+59C>A (n.507+59C>A) c.333+59C>A (n.333+59C>A) | gnomAD v4 |
10 | g.119670236C= | CA1940191440 | BAG3 | c.507+59C= (n.507+59C=) c.333+59C= (n.333+59C=) | |
10 | g.119670236C>T | CA660663608 | BAG3 | c.507+59C>T (n.507+59C>T) c.333+59C>T (n.333+59C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670237G>A | CA214220409 | BAG3 | c.507+60G>A (n.507+60G>A) c.333+60G>A (n.333+60G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670237G= | CA1940191442 | BAG3 | c.507+60G= (n.507+60G=) c.333+60G= (n.333+60G=) | |
10 | g.119670237G>T | CA2611159898 | BAG3 | c.507+60G>T (n.507+60G>T) c.333+60G>T (n.333+60G>T) | gnomAD v4 |
10 | g.119670239del | CA2611159897 | BAG3 | c.507+62del (n.507+62del) c.333+62del (n.333+62del) | gnomAD v4 |
10 | g.119670238G>T | CA2611159899 | BAG3 | c.507+61G>T (n.507+61G>T) c.333+61G>T (n.333+61G>T) | gnomAD v4 |
10 | g.119670239G>A | CA2611159900 | BAG3 | c.507+62G>A (n.507+62G>A) c.333+62G>A (n.333+62G>A) | gnomAD v4 |
10 | g.119670239G= | CA1940191445 | BAG3 | c.507+62G= (n.507+62G=) c.333+62G= (n.333+62G=) | |
10 | g.119670239G>T | CA660663618 | BAG3 | c.507+62G>T (n.507+62G>T) c.333+62G>T (n.333+62G>T) | dbSNP gnomAD v4 |
10 | g.119670240C>A | CA2611159903 | BAG3 | c.507+63C>A (n.507+63C>A) c.333+63C>A (n.333+63C>A) | gnomAD v4 |
10 | g.119670240C= | CA1940191448 | BAG3 | c.507+63C= (n.507+63C=) c.333+63C= (n.333+63C=) | |
10 | g.119670240C>G | CA2611159902 | BAG3 | c.507+63C>G (n.507+63C>G) c.333+63C>G (n.333+63C>G) | gnomAD v4 |
10 | g.119670240C>T | CA660663625 | BAG3 | c.507+63C>T (n.507+63C>T) c.333+63C>T (n.333+63C>T) | dbSNP gnomAD v4 |
10 | g.119670242del | CA2611159901 | BAG3 | c.507+65del (n.507+65del) c.333+65del (n.333+65del) | gnomAD v4 |
10 | g.119670241C>A | CA2611159904 | BAG3 | c.507+64C>A (n.507+64C>A) c.333+64C>A (n.333+64C>A) | gnomAD v4 |
10 | g.119670242C>A | CA2611159905 | BAG3 | c.507+65C>A (n.507+65C>A) c.333+65C>A (n.333+65C>A) | gnomAD v4 |
10 | g.119670242C= | CA1940191450 | BAG3 | c.507+65C= (n.507+65C=) c.333+65C= (n.333+65C=) | |
10 | g.119670242C>T | CA660663634 | BAG3 | c.507+65C>T (n.507+65C>T) c.333+65C>T (n.333+65C>T) | dbSNP gnomAD v4 |
10 | g.119670243A= | CA1940191452 | BAG3 | c.507+66A= (n.507+66A=) c.333+66A= (n.333+66A=) | |
10 | g.119670243A>C | CA2611159906 | BAG3 | c.507+66A>C (n.507+66A>C) c.333+66A>C (n.333+66A>C) | gnomAD v4 |
10 | g.119670243A>G | CA933132674 | BAG3 | c.507+66A>G (n.507+66A>G) c.333+66A>G (n.333+66A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670244T>C | CA2611159907 | BAG3 | c.507+67T>C (n.507+67T>C) c.333+67T>C (n.333+67T>C) | gnomAD v4 |
10 | g.119670244T>G | CA933132676 | BAG3 | c.507+67T>G (n.507+67T>G) c.333+67T>G (n.333+67T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670244T= | CA1940191455 | BAG3 | c.507+67T= (n.507+67T=) c.333+67T= (n.333+67T=) | |
10 | g.119670245C>A | CA2611159909 | BAG3 | c.507+68C>A (n.507+68C>A) c.333+68C>A (n.333+68C>A) | gnomAD v4 |
10 | g.119670245C>T | CA2611159910 | BAG3 | c.507+68C>T (n.507+68C>T) c.333+68C>T (n.333+68C>T) | gnomAD v4 |
10 | g.119670248del | CA2611159908 | BAG3 | c.507+71del (n.507+71del) c.333+71del (n.333+71del) | gnomAD v4 |
10 | g.119670246C>A | CA2574457119 | BAG3 | c.507+69C>A (n.507+69C>A) c.333+69C>A (n.333+69C>A) | gnomAD v4 |
10 | g.119670246C>T | CA2611159911 | BAG3 | c.507+69C>T (n.507+69C>T) c.333+69C>T (n.333+69C>T) | gnomAD v4 |
10 | g.119670247C>A | CA2611159912 | BAG3 | c.507+70C>A (n.507+70C>A) c.333+70C>A (n.333+70C>A) | gnomAD v4 |
10 | g.119670247C>T | CA2611159913 | BAG3 | c.507+70C>T (n.507+70C>T) c.333+70C>T (n.333+70C>T) | gnomAD v4 |
10 | g.119670247_119670249delinsCCT | CA1940191456 | BAG3 | c.507+70_507+72delinsCCT (n.507+70_507+72delinsCCT) c.333+70_333+72delinsCCT (n.333+70_333+72delinsCCT) | |
10 | g.119670248C>A | CA2611159914 | BAG3 | c.507+71C>A (n.507+71C>A) c.333+71C>A (n.333+71C>A) | gnomAD v4 |
10 | g.119670248C= | CA1940191459 | BAG3 | c.507+71C= (n.507+71C=) c.333+71C= (n.333+71C=) | |
10 | g.119670248C>G | CA1940191460 | BAG3 | c.507+71C>G (n.507+71C>G) c.333+71C>G (n.333+71C>G) | dbSNP |
10 | g.119670248C>T | CA2611159915 | BAG3 | c.507+71C>T (n.507+71C>T) c.333+71C>T (n.333+71C>T) | gnomAD v4 |
10 | g.119670249_119670250del | CA660663636 | BAG3 | c.507+72_507+73del (n.507+72_507+73del) c.333+72_333+73del (n.333+72_333+73del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670249T>A | CA2611159916 | BAG3 | c.507+72T>A (n.507+72T>A) c.333+72T>A (n.333+72T>A) | gnomAD v4 |
10 | g.119670249T>C | CA2611159917 | BAG3 | c.507+72T>C (n.507+72T>C) c.333+72T>C (n.333+72T>C) | dbSNP gnomAD v4 |
10 | g.119670250C>A | CA2838003427 | BAG3 | c.507+73C>A (n.507+73C>A) c.333+73C>A (n.333+73C>A) | |
10 | g.119670250C= | CA1940191462 | BAG3 | c.507+73C= (n.507+73C=) c.333+73C= (n.333+73C=) | |
10 | g.119670250C>G | CA13171226 | BAG3 | c.507+73C>G (n.507+73C>G) c.333+73C>G (n.333+73C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670250C>T | CA660663638 | BAG3 | c.507+73C>T (n.507+73C>T) c.333+73C>T (n.333+73C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670251A>G | CA2611159918 | BAG3 | c.507+74A>G (n.507+74A>G) c.333+74A>G (n.333+74A>G) | gnomAD v4 |
10 | g.119670251A>T | CA2611159919 | BAG3 | c.507+74A>T (n.507+74A>T) c.333+74A>T (n.333+74A>T) | gnomAD v4 |