Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60853178C>A | CA461105461 | CHD7 | c.6453C>A (p.Val2151=) c.1717-9051C>A (n.1717-9051C>A) c.6543C>A (p.Val2181=) c.4530C>A (p.Val1510=) c.4080C>A (p.Val1360=) c.3288C>A (p.Val1096=) | |
8 | g.60853178C= | CA1788103921 | CHD7 | c.6453C= (p.Val2151=) c.1717-9051C= (n.1717-9051C=) c.6543C= (p.Val2181=) c.4530C= (p.Val1510=) c.4080C= (p.Val1360=) c.3288C= (p.Val1096=) | |
8 | g.60853178C>G | CA4760590 | CHD7 | c.6453C>G (p.Val2151=) c.1717-9051C>G (n.1717-9051C>G) c.6543C>G (p.Val2181=) c.4530C>G (p.Val1510=) c.4080C>G (p.Val1360=) c.3288C>G (p.Val1096=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60853178C>T | CA4760589 | CHD7 | c.6453C>T (p.Val2151=) c.1717-9051C>T (n.1717-9051C>T) c.6543C>T (p.Val2181=) c.4530C>T (p.Val1510=) c.4080C>T (p.Val1360=) c.3288C>T (p.Val1096=) | dbSNP ExAC gnomAD v2 COSMIC |
8 | g.60853179C>A | CA371325274 | CHD7 | c.6454C>A (p.Gln2152Lys) c.1717-9050C>A (n.1717-9050C>A) c.6544C>A (p.Gln2182Lys) c.4531C>A (p.Gln1511Lys) c.4081C>A (p.Gln1361Lys) c.3289C>A (p.Gln1097Lys) | |
8 | g.60853179C= | CA1788103927 | CHD7 | c.6454C= (p.Gln2152=) c.1717-9050C= (n.1717-9050C=) c.6544C= (p.Gln2182=) c.4531C= (p.Gln1511=) c.4081C= (p.Gln1361=) c.3289C= (p.Gln1097=) | |
8 | g.60853179C>G | CA4760591 | CHD7 | c.6454C>G (p.Gln2152Glu) c.1717-9050C>G (n.1717-9050C>G) c.6544C>G (p.Gln2182Glu) c.4531C>G (p.Gln1511Glu) c.4081C>G (p.Gln1361Glu) c.3289C>G (p.Gln1097Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853179C>T | CA371325277 | CHD7 | c.6454C>T (p.Gln2152Ter) c.1717-9050C>T (n.1717-9050C>T) c.6544C>T (p.Gln2182Ter) c.4531C>T (p.Gln1511Ter) c.4081C>T (p.Gln1361Ter) c.3289C>T (p.Gln1097Ter) | ClinVar dbSNP |
8 | g.60853180A>C | CA371325279 | CHD7 | c.6455A>C (p.Gln2152Pro) c.1717-9049A>C (n.1717-9049A>C) c.6545A>C (p.Gln2182Pro) c.4532A>C (p.Gln1511Pro) c.4082A>C (p.Gln1361Pro) c.3290A>C (p.Gln1097Pro) | |
8 | g.60853180A>G | CA371325282 | CHD7 | c.6455A>G (p.Gln2152Arg) c.1717-9049A>G (n.1717-9049A>G) c.6545A>G (p.Gln2182Arg) c.4532A>G (p.Gln1511Arg) c.4082A>G (p.Gln1361Arg) c.3290A>G (p.Gln1097Arg) | |
8 | g.60853180A>T | CA371325283 | CHD7 | c.6455A>T (p.Gln2152Leu) c.1717-9049A>T (n.1717-9049A>T) c.6545A>T (p.Gln2182Leu) c.4532A>T (p.Gln1511Leu) c.4082A>T (p.Gln1361Leu) c.3290A>T (p.Gln1097Leu) | |
8 | g.60853181G>A | CA461105043 | CHD7 | c.6456G>A (p.Gln2152=) c.1717-9048G>A (n.1717-9048G>A) c.6546G>A (p.Gln2182=) c.4533G>A (p.Gln1511=) c.4083G>A (p.Gln1361=) c.3291G>A (p.Gln1097=) | |
8 | g.60853181G>C | CA4760592 | CHD7 | c.6456G>C (p.Gln2152His) c.1717-9048G>C (n.1717-9048G>C) c.6546G>C (p.Gln2182His) c.4533G>C (p.Gln1511His) c.4083G>C (p.Gln1361His) c.3291G>C (p.Gln1097His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60853181G= | CA1788103953 | CHD7 | c.6456G= (p.Gln2152=) c.1717-9048G= (n.1717-9048G=) c.6546G= (p.Gln2182=) c.4533G= (p.Gln1511=) c.4083G= (p.Gln1361=) c.3291G= (p.Gln1097=) | |
8 | g.60853181G>T | CA371325287 | CHD7 | c.6456G>T (p.Gln2152His) c.1717-9048G>T (n.1717-9048G>T) c.6546G>T (p.Gln2182His) c.4533G>T (p.Gln1511His) c.4083G>T (p.Gln1361His) c.3291G>T (p.Gln1097His) | ClinVar gnomAD v4 |
8 | g.60853182A= | CA1788103973 | CHD7 | c.6457A= (p.Thr2153=) c.1717-9047A= (n.1717-9047A=) c.6547A= (p.Thr2183=) c.4534A= (p.Thr1512=) c.4084A= (p.Thr1362=) c.3292A= (p.Thr1098=) | |
8 | g.60853182A>C | CA371325291 | CHD7 | c.6457A>C (p.Thr2153Pro) c.1717-9047A>C (n.1717-9047A>C) c.6547A>C (p.Thr2183Pro) c.4534A>C (p.Thr1512Pro) c.4084A>C (p.Thr1362Pro) c.3292A>C (p.Thr1098Pro) | |
8 | g.60853182A>G | CA371325293 | CHD7 | c.6457A>G (p.Thr2153Ala) c.1717-9047A>G (n.1717-9047A>G) c.6547A>G (p.Thr2183Ala) c.4534A>G (p.Thr1512Ala) c.4084A>G (p.Thr1362Ala) c.3292A>G (p.Thr1098Ala) | dbSNP |
8 | g.60853182A>T | CA371325294 | CHD7 | c.6457A>T (p.Thr2153Ser) c.1717-9047A>T (n.1717-9047A>T) c.6547A>T (p.Thr2183Ser) c.4534A>T (p.Thr1512Ser) c.4084A>T (p.Thr1362Ser) c.3292A>T (p.Thr1098Ser) | |
8 | g.60853183C>A | CA371325298 | CHD7 | c.6458C>A (p.Thr2153Asn) c.1717-9046C>A (n.1717-9046C>A) c.6548C>A (p.Thr2183Asn) c.4535C>A (p.Thr1512Asn) c.4085C>A (p.Thr1362Asn) c.3293C>A (p.Thr1098Asn) | |
8 | g.60853183C>G | CA371325301 | CHD7 | c.6458C>G (p.Thr2153Ser) c.1717-9046C>G (n.1717-9046C>G) c.6548C>G (p.Thr2183Ser) c.4535C>G (p.Thr1512Ser) c.4085C>G (p.Thr1362Ser) c.3293C>G (p.Thr1098Ser) | |
8 | g.60853183C>T | CA371325296 | CHD7 | c.6458C>T (p.Thr2153Ile) c.1717-9046C>T (n.1717-9046C>T) c.6548C>T (p.Thr2183Ile) c.4535C>T (p.Thr1512Ile) c.4085C>T (p.Thr1362Ile) c.3293C>T (p.Thr1098Ile) | |
8 | g.60853184T>A | CA461105044 | CHD7 | c.6459T>A (p.Thr2153=) c.1717-9045T>A (n.1717-9045T>A) c.6549T>A (p.Thr2183=) c.4536T>A (p.Thr1512=) c.4086T>A (p.Thr1362=) c.3294T>A (p.Thr1098=) | |
8 | g.60853184T>C | CA461105045 | CHD7 | c.6459T>C (p.Thr2153=) c.1717-9045T>C (n.1717-9045T>C) c.6549T>C (p.Thr2183=) c.4536T>C (p.Thr1512=) c.4086T>C (p.Thr1362=) c.3294T>C (p.Thr1098=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853184T>G | CA461105046 | CHD7 | c.6459T>G (p.Thr2153=) c.1717-9045T>G (n.1717-9045T>G) c.6549T>G (p.Thr2183=) c.4536T>G (p.Thr1512=) c.4086T>G (p.Thr1362=) c.3294T>G (p.Thr1098=) | gnomAD v4 |
8 | g.60853184T= | CA1788103977 | CHD7 | c.6459T= (p.Thr2153=) c.1717-9045T= (n.1717-9045T=) c.6549T= (p.Thr2183=) c.4536T= (p.Thr1512=) c.4086T= (p.Thr1362=) c.3294T= (p.Thr1098=) | |
8 | g.60853185C>A | CA371325303 | CHD7 | c.6460C>A (p.Pro2154Thr) c.1717-9044C>A (n.1717-9044C>A) c.6550C>A (p.Pro2184Thr) c.4537C>A (p.Pro1513Thr) c.4087C>A (p.Pro1363Thr) c.3295C>A (p.Pro1099Thr) | |
8 | g.60853185C>G | CA371325305 | CHD7 | c.6460C>G (p.Pro2154Ala) c.1717-9044C>G (n.1717-9044C>G) c.6550C>G (p.Pro2184Ala) c.4537C>G (p.Pro1513Ala) c.4087C>G (p.Pro1363Ala) c.3295C>G (p.Pro1099Ala) | |
8 | g.60853185C>T | CA371325308 | CHD7 | c.6460C>T (p.Pro2154Ser) c.1717-9044C>T (n.1717-9044C>T) c.6550C>T (p.Pro2184Ser) c.4537C>T (p.Pro1513Ser) c.4087C>T (p.Pro1363Ser) c.3295C>T (p.Pro1099Ser) | |
8 | g.60853186del | CA2695209424 | CHD7 | c.6461del (p.Pro2154LeufsTer?) c.1717-9043del (n.1717-9043del) c.6551del (p.Pro2184LeufsTer?) c.4538del (p.Pro1513LeufsTer?) c.4088del (p.Pro1363LeufsTer?) c.3296del (p.Pro1099LeufsTer?) | |
8 | g.60853186C>A | CA371325310 | CHD7 | c.6461C>A (p.Pro2154His) c.1717-9043C>A (n.1717-9043C>A) c.6551C>A (p.Pro2184His) c.4538C>A (p.Pro1513His) c.4088C>A (p.Pro1363His) c.3296C>A (p.Pro1099His) | |
8 | g.60853186C= | CA1788103984 | CHD7 | c.6461C= (p.Pro2154=) c.1717-9043C= (n.1717-9043C=) c.6551C= (p.Pro2184=) c.4538C= (p.Pro1513=) c.4088C= (p.Pro1363=) c.3296C= (p.Pro1099=) | |
8 | g.60853186C>G | CA371325312 | CHD7 | c.6461C>G (p.Pro2154Arg) c.1717-9043C>G (n.1717-9043C>G) c.6551C>G (p.Pro2184Arg) c.4538C>G (p.Pro1513Arg) c.4088C>G (p.Pro1363Arg) c.3296C>G (p.Pro1099Arg) | |
8 | g.60853186C>T | CA371325314 | CHD7 | c.6461C>T (p.Pro2154Leu) c.1717-9043C>T (n.1717-9043C>T) c.6551C>T (p.Pro2184Leu) c.4538C>T (p.Pro1513Leu) c.4088C>T (p.Pro1363Leu) c.3296C>T (p.Pro1099Leu) | ClinVar dbSNP |
8 | g.60853186delinsTT | CA2695209425 | CHD7 | c.6461delinsTT (p.Pro2154LeufsTer12) c.1717-9043delinsTT (n.1717-9043delinsTT) c.6551delinsTT (p.Pro2184LeufsTer12) c.4538delinsTT (p.Pro1513LeufsTer12) c.4088delinsTT (p.Pro1363LeufsTer12) c.3296delinsTT (p.Pro1099LeufsTer12) | |
8 | g.60853187T>A | CA461105047 | CHD7 | c.6462T>A (p.Pro2154=) c.1717-9042T>A (n.1717-9042T>A) c.6552T>A (p.Pro2184=) c.4539T>A (p.Pro1513=) c.4089T>A (p.Pro1363=) c.3297T>A (p.Pro1099=) | gnomAD v4 |
8 | g.60853187T>C | CA461105048 | CHD7 | c.6462T>C (p.Pro2154=) c.1717-9042T>C (n.1717-9042T>C) c.6552T>C (p.Pro2184=) c.4539T>C (p.Pro1513=) c.4089T>C (p.Pro1363=) c.3297T>C (p.Pro1099=) | |
8 | g.60853187T>G | CA461105049 | CHD7 | c.6462T>G (p.Pro2154=) c.1717-9042T>G (n.1717-9042T>G) c.6552T>G (p.Pro2184=) c.4539T>G (p.Pro1513=) c.4089T>G (p.Pro1363=) c.3297T>G (p.Pro1099=) | |
8 | g.60853188C>A | CA371325315 | CHD7 | c.6463C>A (p.Pro2155Thr) c.1717-9041C>A (n.1717-9041C>A) c.6553C>A (p.Pro2185Thr) c.4540C>A (p.Pro1514Thr) c.4090C>A (p.Pro1364Thr) c.3298C>A (p.Pro1100Thr) | |
8 | g.60853188C= | CA1788103993 | CHD7 | c.6463C= (p.Pro2155=) c.1717-9041C= (n.1717-9041C=) c.6553C= (p.Pro2185=) c.4540C= (p.Pro1514=) c.4090C= (p.Pro1364=) c.3298C= (p.Pro1100=) | |
8 | g.60853188C>G | CA371325317 | CHD7 | c.6463C>G (p.Pro2155Ala) c.1717-9041C>G (n.1717-9041C>G) c.6553C>G (p.Pro2185Ala) c.4540C>G (p.Pro1514Ala) c.4090C>G (p.Pro1364Ala) c.3298C>G (p.Pro1100Ala) | |
8 | g.60853188C>T | CA371325318 | CHD7 | c.6463C>T (p.Pro2155Ser) c.1717-9041C>T (n.1717-9041C>T) c.6553C>T (p.Pro2185Ser) c.4540C>T (p.Pro1514Ser) c.4090C>T (p.Pro1364Ser) c.3298C>T (p.Pro1100Ser) | ClinVar dbSNP |
8 | g.60853189C>A | CA371325320 | CHD7 | c.6464C>A (p.Pro2155Gln) c.1717-9040C>A (n.1717-9040C>A) c.6554C>A (p.Pro2185Gln) c.4541C>A (p.Pro1514Gln) c.4091C>A (p.Pro1364Gln) c.3299C>A (p.Pro1100Gln) | |
8 | g.60853189C= | CA1788103998 | CHD7 | c.6464C= (p.Pro2155=) c.1717-9040C= (n.1717-9040C=) c.6554C= (p.Pro2185=) c.4541C= (p.Pro1514=) c.4091C= (p.Pro1364=) c.3299C= (p.Pro1100=) | |
8 | g.60853189C>G | CA371325322 | CHD7 | c.6464C>G (p.Pro2155Arg) c.1717-9040C>G (n.1717-9040C>G) c.6554C>G (p.Pro2185Arg) c.4541C>G (p.Pro1514Arg) c.4091C>G (p.Pro1364Arg) c.3299C>G (p.Pro1100Arg) | |
8 | g.60853189C>T | CA4760593 | CHD7 | c.6464C>T (p.Pro2155Leu) c.1717-9040C>T (n.1717-9040C>T) c.6554C>T (p.Pro2185Leu) c.4541C>T (p.Pro1514Leu) c.4091C>T (p.Pro1364Leu) c.3299C>T (p.Pro1100Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60853190A>C | CA461105052 | CHD7 | c.6465A>C (p.Pro2155=) c.1717-9039A>C (n.1717-9039A>C) c.6555A>C (p.Pro2185=) c.4542A>C (p.Pro1514=) c.4092A>C (p.Pro1364=) c.3300A>C (p.Pro1100=) | |
8 | g.60853190A>G | CA461105051 | CHD7 | c.6465A>G (p.Pro2155=) c.1717-9039A>G (n.1717-9039A>G) c.6555A>G (p.Pro2185=) c.4542A>G (p.Pro1514=) c.4092A>G (p.Pro1364=) c.3300A>G (p.Pro1100=) | |
8 | g.60853190A>T | CA461105050 | CHD7 | c.6465A>T (p.Pro2155=) c.1717-9039A>T (n.1717-9039A>T) c.6555A>T (p.Pro2185=) c.4542A>T (p.Pro1514=) c.4092A>T (p.Pro1364=) c.3300A>T (p.Pro1100=) | |
8 | g.60853191G>A | CA371325328 | CHD7 | c.6466G>A (p.Val2156Ile) c.1717-9038G>A (n.1717-9038G>A) c.6556G>A (p.Val2186Ile) c.4543G>A (p.Val1515Ile) c.4093G>A (p.Val1365Ile) c.3301G>A (p.Val1101Ile) | ClinVar |
8 | g.60853191G>C | CA371325325 | CHD7 | c.6466G>C (p.Val2156Leu) c.1717-9038G>C (n.1717-9038G>C) c.6556G>C (p.Val2186Leu) c.4543G>C (p.Val1515Leu) c.4093G>C (p.Val1365Leu) c.3301G>C (p.Val1101Leu) | |
8 | g.60853191G>T | CA371325324 | CHD7 | c.6466G>T (p.Val2156Phe) c.1717-9038G>T (n.1717-9038G>T) c.6556G>T (p.Val2186Phe) c.4543G>T (p.Val1515Phe) c.4093G>T (p.Val1365Phe) c.3301G>T (p.Val1101Phe) | gnomAD v4 |
8 | g.60853192T>A | CA371325330 | CHD7 | c.6467T>A (p.Val2156Asp) c.1717-9037T>A (n.1717-9037T>A) c.6557T>A (p.Val2186Asp) c.4544T>A (p.Val1515Asp) c.4094T>A (p.Val1365Asp) c.3302T>A (p.Val1101Asp) | |
8 | g.60853192T>C | CA371325334 | CHD7 | c.6467T>C (p.Val2156Ala) c.1717-9037T>C (n.1717-9037T>C) c.6557T>C (p.Val2186Ala) c.4544T>C (p.Val1515Ala) c.4094T>C (p.Val1365Ala) c.3302T>C (p.Val1101Ala) | |
8 | g.60853192T>G | CA371325336 | CHD7 | c.6467T>G (p.Val2156Gly) c.1717-9037T>G (n.1717-9037T>G) c.6557T>G (p.Val2186Gly) c.4544T>G (p.Val1515Gly) c.4094T>G (p.Val1365Gly) c.3302T>G (p.Val1101Gly) | |
8 | g.60853193C>A | CA461105053 | CHD7 | c.6468C>A (p.Val2156=) c.1717-9036C>A (n.1717-9036C>A) c.6558C>A (p.Val2186=) c.4545C>A (p.Val1515=) c.4095C>A (p.Val1365=) c.3303C>A (p.Val1101=) | gnomAD v4 |
8 | g.60853193C= | CA1788104007 | CHD7 | c.6468C= (p.Val2156=) c.1717-9036C= (n.1717-9036C=) c.6558C= (p.Val2186=) c.4545C= (p.Val1515=) c.4095C= (p.Val1365=) c.3303C= (p.Val1101=) | |
8 | g.60853193C>G | CA461105054 | CHD7 | c.6468C>G (p.Val2156=) c.1717-9036C>G (n.1717-9036C>G) c.6558C>G (p.Val2186=) c.4545C>G (p.Val1515=) c.4095C>G (p.Val1365=) c.3303C>G (p.Val1101=) | ClinVar gnomAD v4 |
8 | g.60853193C>T | CA4760594 | CHD7 | c.6468C>T (p.Val2156=) c.1717-9036C>T (n.1717-9036C>T) c.6558C>T (p.Val2186=) c.4545C>T (p.Val1515=) c.4095C>T (p.Val1365=) c.3303C>T (p.Val1101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853194A= | CA1788104014 | CHD7 | c.6469A= (p.Ile2157=) c.1717-9035A= (n.1717-9035A=) c.6559A= (p.Ile2187=) c.4546A= (p.Ile1516=) c.4096A= (p.Ile1366=) c.3304A= (p.Ile1102=) | |
8 | g.60853194A>C | CA371325340 | CHD7 | c.6469A>C (p.Ile2157Leu) c.1717-9035A>C (n.1717-9035A>C) c.6559A>C (p.Ile2187Leu) c.4546A>C (p.Ile1516Leu) c.4096A>C (p.Ile1366Leu) c.3304A>C (p.Ile1102Leu) | |
8 | g.60853194A>G | CA10631416 | CHD7 | c.6469A>G (p.Ile2157Val) c.1717-9035A>G (n.1717-9035A>G) c.6559A>G (p.Ile2187Val) c.4546A>G (p.Ile1516Val) c.4096A>G (p.Ile1366Val) c.3304A>G (p.Ile1102Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853194A>T | CA371325343 | CHD7 | c.6469A>T (p.Ile2157Phe) c.1717-9035A>T (n.1717-9035A>T) c.6559A>T (p.Ile2187Phe) c.4546A>T (p.Ile1516Phe) c.4096A>T (p.Ile1366Phe) c.3304A>T (p.Ile1102Phe) | |
8 | g.60853195T>A | CA371325345 | CHD7 | c.6470T>A (p.Ile2157Asn) c.1717-9034T>A (n.1717-9034T>A) c.6560T>A (p.Ile2187Asn) c.4547T>A (p.Ile1516Asn) c.4097T>A (p.Ile1366Asn) c.3305T>A (p.Ile1102Asn) | |
8 | g.60853195T>C | CA371325347 | CHD7 | c.6470T>C (p.Ile2157Thr) c.1717-9034T>C (n.1717-9034T>C) c.6560T>C (p.Ile2187Thr) c.4547T>C (p.Ile1516Thr) c.4097T>C (p.Ile1366Thr) c.3305T>C (p.Ile1102Thr) | dbSNP gnomAD v4 |
8 | g.60853195T>G | CA371325349 | CHD7 | c.6470T>G (p.Ile2157Ser) c.1717-9034T>G (n.1717-9034T>G) c.6560T>G (p.Ile2187Ser) c.4547T>G (p.Ile1516Ser) c.4097T>G (p.Ile1366Ser) c.3305T>G (p.Ile1102Ser) | |
8 | g.60853195T= | CA1788104033 | CHD7 | c.6470T= (p.Ile2157=) c.1717-9034T= (n.1717-9034T=) c.6560T= (p.Ile2187=) c.4547T= (p.Ile1516=) c.4097T= (p.Ile1366=) c.3305T= (p.Ile1102=) | |
8 | g.60853196C>A | CA461105055 | CHD7 | c.6471C>A (p.Ile2157=) c.1717-9033C>A (n.1717-9033C>A) c.6561C>A (p.Ile2187=) c.4548C>A (p.Ile1516=) c.4098C>A (p.Ile1366=) c.3306C>A (p.Ile1102=) | |
8 | g.60853196C= | CA1788104038 | CHD7 | c.6471C= (p.Ile2157=) c.1717-9033C= (n.1717-9033C=) c.6561C= (p.Ile2187=) c.4548C= (p.Ile1516=) c.4098C= (p.Ile1366=) c.3306C= (p.Ile1102=) | |
8 | g.60853196C>G | CA371325351 | CHD7 | c.6471C>G (p.Ile2157Met) c.1717-9033C>G (n.1717-9033C>G) c.6561C>G (p.Ile2187Met) c.4548C>G (p.Ile1516Met) c.4098C>G (p.Ile1366Met) c.3306C>G (p.Ile1102Met) | gnomAD v4 |
8 | g.60853196C>T | CA461105056 | CHD7 | c.6471C>T (p.Ile2157=) c.1717-9033C>T (n.1717-9033C>T) c.6561C>T (p.Ile2187=) c.4548C>T (p.Ile1516=) c.4098C>T (p.Ile1366=) c.3306C>T (p.Ile1102=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853197T>A | CA371325354 | CHD7 | c.6472T>A (p.Ser2158Thr) c.1717-9032T>A (n.1717-9032T>A) c.6562T>A (p.Ser2188Thr) c.4549T>A (p.Ser1517Thr) c.4099T>A (p.Ser1367Thr) c.3307T>A (p.Ser1103Thr) | |
8 | g.60853197T>C | CA371325357 | CHD7 | c.6472T>C (p.Ser2158Pro) c.1717-9032T>C (n.1717-9032T>C) c.6562T>C (p.Ser2188Pro) c.4549T>C (p.Ser1517Pro) c.4099T>C (p.Ser1367Pro) c.3307T>C (p.Ser1103Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60853197T>G | CA371325359 | CHD7 | c.6472T>G (p.Ser2158Ala) c.1717-9032T>G (n.1717-9032T>G) c.6562T>G (p.Ser2188Ala) c.4549T>G (p.Ser1517Ala) c.4099T>G (p.Ser1367Ala) c.3307T>G (p.Ser1103Ala) | |
8 | g.60853197T= | CA1788104043 | CHD7 | c.6472T= (p.Ser2158=) c.1717-9032T= (n.1717-9032T=) c.6562T= (p.Ser2188=) c.4549T= (p.Ser1517=) c.4099T= (p.Ser1367=) c.3307T= (p.Ser1103=) | |
8 | g.60853197_60853198delinsTC | CA1788104045 | CHD7 | c.6472_6473delinsTC (p.Ser2158=) c.1717-9032_1717-9031delinsTC (n.1717-9032_1717-9031delinsTC) c.6562_6563delinsTC (p.Ser2188=) c.4549_4550delinsTC (p.Ser1517=) c.4099_4100delinsTC (p.Ser1367=) c.3307_3308delinsTC (p.Ser1103=) | |
8 | g.60853198del | CA891843138 | CHD7 | c.6473del (p.Ser2158TyrfsTer?) c.1717-9031del (n.1717-9031del) c.6563del (p.Ser2188TyrfsTer?) c.4550del (p.Ser1517TyrfsTer?) c.4100del (p.Ser1367TyrfsTer?) c.3308del (p.Ser1103TyrfsTer?) | ClinVar dbSNP |
8 | g.60853198C>A | CA371325363 | CHD7 | c.6473C>A (p.Ser2158Ter) c.1717-9031C>A (n.1717-9031C>A) c.6563C>A (p.Ser2188Ter) c.4550C>A (p.Ser1517Ter) c.4100C>A (p.Ser1367Ter) c.3308C>A (p.Ser1103Ter) | ClinVar dbSNP |
8 | g.60853198C= | CA1788104063 | CHD7 | c.6473C= (p.Ser2158=) c.1717-9031C= (n.1717-9031C=) c.6563C= (p.Ser2188=) c.4550C= (p.Ser1517=) c.4100C= (p.Ser1367=) c.3308C= (p.Ser1103=) | |
8 | g.60853198C>G | CA371325365 | CHD7 | c.6473C>G (p.Ser2158Ter) c.1717-9031C>G (n.1717-9031C>G) c.6563C>G (p.Ser2188Ter) c.4550C>G (p.Ser1517Ter) c.4100C>G (p.Ser1367Ter) c.3308C>G (p.Ser1103Ter) | |
8 | g.60853198C>T | CA4760595 | CHD7 | c.6473C>T (p.Ser2158Leu) c.1717-9031C>T (n.1717-9031C>T) c.6563C>T (p.Ser2188Leu) c.4550C>T (p.Ser1517Leu) c.4100C>T (p.Ser1367Leu) c.3308C>T (p.Ser1103Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60853199A= | CA1788104098 | CHD7 | c.6474A= (p.Ser2158=) c.1717-9030A= (n.1717-9030A=) c.6564A= (p.Ser2188=) c.4551A= (p.Ser1517=) c.4101A= (p.Ser1367=) c.3309A= (p.Ser1103=) | |
8 | g.60853199A>C | CA461105057 | CHD7 | c.6474A>C (p.Ser2158=) c.1717-9030A>C (n.1717-9030A>C) c.6564A>C (p.Ser2188=) c.4551A>C (p.Ser1517=) c.4101A>C (p.Ser1367=) c.3309A>C (p.Ser1103=) | |
8 | g.60853199A>G | CA4760596 | CHD7 | c.6474A>G (p.Ser2158=) c.1717-9030A>G (n.1717-9030A>G) c.6564A>G (p.Ser2188=) c.4551A>G (p.Ser1517=) c.4101A>G (p.Ser1367=) c.3309A>G (p.Ser1103=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60853199A>T | CA461105058 | CHD7 | c.6474A>T (p.Ser2158=) c.1717-9030A>T (n.1717-9030A>T) c.6564A>T (p.Ser2188=) c.4551A>T (p.Ser1517=) c.4101A>T (p.Ser1367=) c.3309A>T (p.Ser1103=) | dbSNP |
8 | g.60853200T>A | CA371325368 | CHD7 | c.6475T>A (p.Ser2159Thr) c.1717-9029T>A (n.1717-9029T>A) c.6565T>A (p.Ser2189Thr) c.4552T>A (p.Ser1518Thr) c.4102T>A (p.Ser1368Thr) c.3310T>A (p.Ser1104Thr) | |
8 | g.60853200T>C | CA371325369 | CHD7 | c.6475T>C (p.Ser2159Pro) c.1717-9029T>C (n.1717-9029T>C) c.6565T>C (p.Ser2189Pro) c.4552T>C (p.Ser1518Pro) c.4102T>C (p.Ser1368Pro) c.3310T>C (p.Ser1104Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853200T>G | CA371325372 | CHD7 | c.6475T>G (p.Ser2159Ala) c.1717-9029T>G (n.1717-9029T>G) c.6565T>G (p.Ser2189Ala) c.4552T>G (p.Ser1518Ala) c.4102T>G (p.Ser1368Ala) c.3310T>G (p.Ser1104Ala) | |
8 | g.60853200T= | CA1788104110 | CHD7 | c.6475T= (p.Ser2159=) c.1717-9029T= (n.1717-9029T=) c.6565T= (p.Ser2189=) c.4552T= (p.Ser1518=) c.4102T= (p.Ser1368=) c.3310T= (p.Ser1104=) | |
8 | g.60853201C>A | CA371325374 | CHD7 | c.6476C>A (p.Ser2159Tyr) c.1717-9028C>A (n.1717-9028C>A) c.6566C>A (p.Ser2189Tyr) c.4553C>A (p.Ser1518Tyr) c.4103C>A (p.Ser1368Tyr) c.3311C>A (p.Ser1104Tyr) | ClinVar dbSNP |
8 | g.60853201C= | CA1788104117 | CHD7 | c.6476C= (p.Ser2159=) c.1717-9028C= (n.1717-9028C=) c.6566C= (p.Ser2189=) c.4553C= (p.Ser1518=) c.4103C= (p.Ser1368=) c.3311C= (p.Ser1104=) | |
8 | g.60853201C>G | CA371325377 | CHD7 | c.6476C>G (p.Ser2159Cys) c.1717-9028C>G (n.1717-9028C>G) c.6566C>G (p.Ser2189Cys) c.4553C>G (p.Ser1518Cys) c.4103C>G (p.Ser1368Cys) c.3311C>G (p.Ser1104Cys) | |
8 | g.60853201C>T | CA371325378 | CHD7 | c.6476C>T (p.Ser2159Phe) c.1717-9028C>T (n.1717-9028C>T) c.6566C>T (p.Ser2189Phe) c.4553C>T (p.Ser1518Phe) c.4103C>T (p.Ser1368Phe) c.3311C>T (p.Ser1104Phe) | dbSNP |
8 | g.60853202T>A | CA461105059 | CHD7 | c.6477T>A (p.Ser2159=) c.1717-9027T>A (n.1717-9027T>A) c.6567T>A (p.Ser2189=) c.4554T>A (p.Ser1518=) c.4104T>A (p.Ser1368=) c.3312T>A (p.Ser1104=) | |
8 | g.60853202T>C | CA461105060 | CHD7 | c.6477T>C (p.Ser2159=) c.1717-9027T>C (n.1717-9027T>C) c.6567T>C (p.Ser2189=) c.4554T>C (p.Ser1518=) c.4104T>C (p.Ser1368=) c.3312T>C (p.Ser1104=) | |
8 | g.60853202T>G | CA461105061 | CHD7 | c.6477T>G (p.Ser2159=) c.1717-9027T>G (n.1717-9027T>G) c.6567T>G (p.Ser2189=) c.4554T>G (p.Ser1518=) c.4104T>G (p.Ser1368=) c.3312T>G (p.Ser1104=) | |
8 | g.60853203G>A | CA171759 | CHD7 | c.6478G>A (p.Ala2160Thr) c.1717-9026G>A (n.1717-9026G>A) c.6568G>A (p.Ala2190Thr) c.4555G>A (p.Ala1519Thr) c.4105G>A (p.Ala1369Thr) c.3313G>A (p.Ala1105Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853203G>C | CA371325382 | CHD7 | c.6478G>C (p.Ala2160Pro) c.1717-9026G>C (n.1717-9026G>C) c.6568G>C (p.Ala2190Pro) c.4555G>C (p.Ala1519Pro) c.4105G>C (p.Ala1369Pro) c.3313G>C (p.Ala1105Pro) | |
8 | g.60853203G= | CA1788104129 | CHD7 | c.6478G= (p.Ala2160=) c.1717-9026G= (n.1717-9026G=) c.6568G= (p.Ala2190=) c.4555G= (p.Ala1519=) c.4105G= (p.Ala1369=) c.3313G= (p.Ala1105=) | |
8 | g.60853203G>T | CA371325381 | CHD7 | c.6478G>T (p.Ala2160Ser) c.1717-9026G>T (n.1717-9026G>T) c.6568G>T (p.Ala2190Ser) c.4555G>T (p.Ala1519Ser) c.4105G>T (p.Ala1369Ser) c.3313G>T (p.Ala1105Ser) | |
8 | g.60853204C>A | CA371325385 | CHD7 | c.6479C>A (p.Ala2160Asp) c.1717-9025C>A (n.1717-9025C>A) c.6569C>A (p.Ala2190Asp) c.4556C>A (p.Ala1519Asp) c.4106C>A (p.Ala1369Asp) c.3314C>A (p.Ala1105Asp) | |
8 | g.60853204C>G | CA371325386 | CHD7 | c.6479C>G (p.Ala2160Gly) c.1717-9025C>G (n.1717-9025C>G) c.6569C>G (p.Ala2190Gly) c.4556C>G (p.Ala1519Gly) c.4106C>G (p.Ala1369Gly) c.3314C>G (p.Ala1105Gly) | gnomAD v4 |
8 | g.60853204C>T | CA371325387 | CHD7 | c.6479C>T (p.Ala2160Val) c.1717-9025C>T (n.1717-9025C>T) c.6569C>T (p.Ala2190Val) c.4556C>T (p.Ala1519Val) c.4106C>T (p.Ala1369Val) c.3314C>T (p.Ala1105Val) | |
8 | g.60853205T>A | CA461105062 | CHD7 | c.6480T>A (p.Ala2160=) c.1717-9024T>A (n.1717-9024T>A) c.6570T>A (p.Ala2190=) c.4557T>A (p.Ala1519=) c.4107T>A (p.Ala1369=) c.3315T>A (p.Ala1105=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853205T>C | CA461105063 | CHD7 | c.6480T>C (p.Ala2160=) c.1717-9024T>C (n.1717-9024T>C) c.6570T>C (p.Ala2190=) c.4557T>C (p.Ala1519=) c.4107T>C (p.Ala1369=) c.3315T>C (p.Ala1105=) | |
8 | g.60853205T>G | CA4760597 | CHD7 | c.6480T>G (p.Ala2160=) c.1717-9024T>G (n.1717-9024T>G) c.6570T>G (p.Ala2190=) c.4557T>G (p.Ala1519=) c.4107T>G (p.Ala1369=) c.3315T>G (p.Ala1105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853205T= | CA1788104135 | CHD7 | c.6480T= (p.Ala2160=) c.1717-9024T= (n.1717-9024T=) c.6570T= (p.Ala2190=) c.4557T= (p.Ala1519=) c.4107T= (p.Ala1369=) c.3315T= (p.Ala1105=) | |
8 | g.60853206C>A | CA371325388 | CHD7 | c.6481C>A (p.His2161Asn) c.1717-9023C>A (n.1717-9023C>A) c.6571C>A (p.His2191Asn) c.4558C>A (p.His1520Asn) c.4108C>A (p.His1370Asn) c.3316C>A (p.His1106Asn) | |
8 | g.60853206C>G | CA371325390 | CHD7 | c.6481C>G (p.His2161Asp) c.1717-9023C>G (n.1717-9023C>G) c.6571C>G (p.His2191Asp) c.4558C>G (p.His1520Asp) c.4108C>G (p.His1370Asp) c.3316C>G (p.His1106Asp) | |
8 | g.60853206C>T | CA371325389 | CHD7 | c.6481C>T (p.His2161Tyr) c.1717-9023C>T (n.1717-9023C>T) c.6571C>T (p.His2191Tyr) c.4558C>T (p.His1520Tyr) c.4108C>T (p.His1370Tyr) c.3316C>T (p.His1106Tyr) | |
8 | g.60853207A= | CA1788104139 | CHD7 | c.6482A= (p.His2161=) c.1717-9022A= (n.1717-9022A=) c.6572A= (p.His2191=) c.4559A= (p.His1520=) c.4109A= (p.His1370=) c.3317A= (p.His1106=) | |
8 | g.60853207A>C | CA371325399 | CHD7 | c.6482A>C (p.His2161Pro) c.1717-9022A>C (n.1717-9022A>C) c.6572A>C (p.His2191Pro) c.4559A>C (p.His1520Pro) c.4109A>C (p.His1370Pro) c.3317A>C (p.His1106Pro) | |
8 | g.60853207A>G | CA371325400 | CHD7 | c.6482A>G (p.His2161Arg) c.1717-9022A>G (n.1717-9022A>G) c.6572A>G (p.His2191Arg) c.4559A>G (p.His1520Arg) c.4109A>G (p.His1370Arg) c.3317A>G (p.His1106Arg) | dbSNP |
8 | g.60853207A>T | CA371325402 | CHD7 | c.6482A>T (p.His2161Leu) c.1717-9022A>T (n.1717-9022A>T) c.6572A>T (p.His2191Leu) c.4559A>T (p.His1520Leu) c.4109A>T (p.His1370Leu) c.3317A>T (p.His1106Leu) | |
8 | g.60853208T>A | CA4760598 | CHD7 | c.6483T>A (p.His2161Gln) c.1717-9021T>A (n.1717-9021T>A) c.6573T>A (p.His2191Gln) c.4560T>A (p.His1520Gln) c.4110T>A (p.His1370Gln) c.3318T>A (p.His1106Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853208T>C | CA461105064 | CHD7 | c.6483T>C (p.His2161=) c.1717-9021T>C (n.1717-9021T>C) c.6573T>C (p.His2191=) c.4560T>C (p.His1520=) c.4110T>C (p.His1370=) c.3318T>C (p.His1106=) | |
8 | g.60853208T>G | CA371325406 | CHD7 | c.6483T>G (p.His2161Gln) c.1717-9021T>G (n.1717-9021T>G) c.6573T>G (p.His2191Gln) c.4560T>G (p.His1520Gln) c.4110T>G (p.His1370Gln) c.3318T>G (p.His1106Gln) | |
8 | g.60853208T= | CA1788104166 | CHD7 | c.6483T= (p.His2161=) c.1717-9021T= (n.1717-9021T=) c.6573T= (p.His2191=) c.4560T= (p.His1520=) c.4110T= (p.His1370=) c.3318T= (p.His1106=) | |
8 | g.60853209A>C | CA371325409 | CHD7 | c.6484A>C (p.Ile2162Leu) c.1717-9020A>C (n.1717-9020A>C) c.6574A>C (p.Ile2192Leu) c.4561A>C (p.Ile1521Leu) c.4111A>C (p.Ile1371Leu) c.3319A>C (p.Ile1107Leu) | |
8 | g.60853209A>G | CA371325410 | CHD7 | c.6484A>G (p.Ile2162Val) c.1717-9020A>G (n.1717-9020A>G) c.6574A>G (p.Ile2192Val) c.4561A>G (p.Ile1521Val) c.4111A>G (p.Ile1371Val) c.3319A>G (p.Ile1107Val) | gnomAD v4 |
8 | g.60853209A>T | CA371325413 | CHD7 | c.6484A>T (p.Ile2162Phe) c.1717-9020A>T (n.1717-9020A>T) c.6574A>T (p.Ile2192Phe) c.4561A>T (p.Ile1521Phe) c.4111A>T (p.Ile1371Phe) c.3319A>T (p.Ile1107Phe) | |
8 | g.60853210T>A | CA371325415 | CHD7 | c.6485T>A (p.Ile2162Asn) c.1717-9019T>A (n.1717-9019T>A) c.6575T>A (p.Ile2192Asn) c.4562T>A (p.Ile1521Asn) c.4112T>A (p.Ile1371Asn) c.3320T>A (p.Ile1107Asn) | gnomAD v4 |
8 | g.60853210T>C | CA371325417 | CHD7 | c.6485T>C (p.Ile2162Thr) c.1717-9019T>C (n.1717-9019T>C) c.6575T>C (p.Ile2192Thr) c.4562T>C (p.Ile1521Thr) c.4112T>C (p.Ile1371Thr) c.3320T>C (p.Ile1107Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853210T>G | CA371325420 | CHD7 | c.6485T>G (p.Ile2162Ser) c.1717-9019T>G (n.1717-9019T>G) c.6575T>G (p.Ile2192Ser) c.4562T>G (p.Ile1521Ser) c.4112T>G (p.Ile1371Ser) c.3320T>G (p.Ile1107Ser) | ClinVar |
8 | g.60853210T= | CA1788104172 | CHD7 | c.6485T= (p.Ile2162=) c.1717-9019T= (n.1717-9019T=) c.6575T= (p.Ile2192=) c.4562T= (p.Ile1521=) c.4112T= (p.Ile1371=) c.3320T= (p.Ile1107=) | |
8 | g.60853211T>A | CA461105065 | CHD7 | c.6486T>A (p.Ile2162=) c.1717-9018T>A (n.1717-9018T>A) c.6576T>A (p.Ile2192=) c.4563T>A (p.Ile1521=) c.4113T>A (p.Ile1371=) c.3321T>A (p.Ile1107=) | |
8 | g.60853211T>C | CA461105066 | CHD7 | c.6486T>C (p.Ile2162=) c.1717-9018T>C (n.1717-9018T>C) c.6576T>C (p.Ile2192=) c.4563T>C (p.Ile1521=) c.4113T>C (p.Ile1371=) c.3321T>C (p.Ile1107=) | |
8 | g.60853211T>G | CA371325422 | CHD7 | c.6486T>G (p.Ile2162Met) c.1717-9018T>G (n.1717-9018T>G) c.6576T>G (p.Ile2192Met) c.4563T>G (p.Ile1521Met) c.4113T>G (p.Ile1371Met) c.3321T>G (p.Ile1107Met) | |
8 | g.60853212C>A | CA371325425 | CHD7 | c.6487C>A (p.Gln2163Lys) c.1717-9017C>A (n.1717-9017C>A) c.6577C>A (p.Gln2193Lys) c.4564C>A (p.Gln1522Lys) c.4114C>A (p.Gln1372Lys) c.3322C>A (p.Gln1108Lys) | |
8 | g.60853212C>G | CA371325423 | CHD7 | c.6487C>G (p.Gln2163Glu) c.1717-9017C>G (n.1717-9017C>G) c.6577C>G (p.Gln2193Glu) c.4564C>G (p.Gln1522Glu) c.4114C>G (p.Gln1372Glu) c.3322C>G (p.Gln1108Glu) | |
8 | g.60853212C>T | CA371325427 | CHD7 | c.6487C>T (p.Gln2163Ter) c.1717-9017C>T (n.1717-9017C>T) c.6577C>T (p.Gln2193Ter) c.4564C>T (p.Gln1522Ter) c.4114C>T (p.Gln1372Ter) c.3322C>T (p.Gln1108Ter) | |
8 | g.60853213A>C | CA371325428 | CHD7 | c.6488A>C (p.Gln2163Pro) c.1717-9016A>C (n.1717-9016A>C) c.6578A>C (p.Gln2193Pro) c.4565A>C (p.Gln1522Pro) c.4115A>C (p.Gln1372Pro) c.3323A>C (p.Gln1108Pro) | |
8 | g.60853213A>G | CA371325433 | CHD7 | c.6488A>G (p.Gln2163Arg) c.1717-9016A>G (n.1717-9016A>G) c.6578A>G (p.Gln2193Arg) c.4565A>G (p.Gln1522Arg) c.4115A>G (p.Gln1372Arg) c.3323A>G (p.Gln1108Arg) | |
8 | g.60853213A>T | CA371325430 | CHD7 | c.6488A>T (p.Gln2163Leu) c.1717-9016A>T (n.1717-9016A>T) c.6578A>T (p.Gln2193Leu) c.4565A>T (p.Gln1522Leu) c.4115A>T (p.Gln1372Leu) c.3323A>T (p.Gln1108Leu) | |
8 | g.60853214A>C | CA371325435 | CHD7 | c.6489A>C (p.Gln2163His) c.1717-9015A>C (n.1717-9015A>C) c.6579A>C (p.Gln2193His) c.4566A>C (p.Gln1522His) c.4116A>C (p.Gln1372His) c.3324A>C (p.Gln1108His) | |
8 | g.60853214A>G | CA461105067 | CHD7 | c.6489A>G (p.Gln2163=) c.1717-9015A>G (n.1717-9015A>G) c.6579A>G (p.Gln2193=) c.4566A>G (p.Gln1522=) c.4116A>G (p.Gln1372=) c.3324A>G (p.Gln1108=) | gnomAD v4 |
8 | g.60853214A>T | CA371325437 | CHD7 | c.6489A>T (p.Gln2163His) c.1717-9015A>T (n.1717-9015A>T) c.6579A>T (p.Gln2193His) c.4566A>T (p.Gln1522His) c.4116A>T (p.Gln1372His) c.3324A>T (p.Gln1108His) | |
8 | g.60853215G>A | CA371325439 | CHD7 | c.6490G>A (p.Asp2164Asn) c.1717-9014G>A (n.1717-9014G>A) c.6580G>A (p.Asp2194Asn) c.4567G>A (p.Asp1523Asn) c.4117G>A (p.Asp1373Asn) c.3325G>A (p.Asp1109Asn) | |
8 | g.60853215G>C | CA371325441 | CHD7 | c.6490G>C (p.Asp2164His) c.1717-9014G>C (n.1717-9014G>C) c.6580G>C (p.Asp2194His) c.4567G>C (p.Asp1523His) c.4117G>C (p.Asp1373His) c.3325G>C (p.Asp1109His) | |
8 | g.60853215G>T | CA371325442 | CHD7 | c.6490G>T (p.Asp2164Tyr) c.1717-9014G>T (n.1717-9014G>T) c.6580G>T (p.Asp2194Tyr) c.4567G>T (p.Asp1523Tyr) c.4117G>T (p.Asp1373Tyr) c.3325G>T (p.Asp1109Tyr) | |
8 | g.60853216A>C | CA371325444 | CHD7 | c.6491A>C (p.Asp2164Ala) c.1717-9013A>C (n.1717-9013A>C) c.6581A>C (p.Asp2194Ala) c.4568A>C (p.Asp1523Ala) c.4118A>C (p.Asp1373Ala) c.3326A>C (p.Asp1109Ala) | |
8 | g.60853216A>G | CA371325445 | CHD7 | c.6491A>G (p.Asp2164Gly) c.1717-9013A>G (n.1717-9013A>G) c.6581A>G (p.Asp2194Gly) c.4568A>G (p.Asp1523Gly) c.4118A>G (p.Asp1373Gly) c.3326A>G (p.Asp1109Gly) | |
8 | g.60853216A>T | CA371325447 | CHD7 | c.6491A>T (p.Asp2164Val) c.1717-9013A>T (n.1717-9013A>T) c.6581A>T (p.Asp2194Val) c.4568A>T (p.Asp1523Val) c.4118A>T (p.Asp1373Val) c.3326A>T (p.Asp1109Val) | |
8 | g.60853217T>A | CA371325451 | CHD7 | c.6492T>A (p.Asp2164Glu) c.1717-9012T>A (n.1717-9012T>A) c.6582T>A (p.Asp2194Glu) c.4569T>A (p.Asp1523Glu) c.4119T>A (p.Asp1373Glu) c.3327T>A (p.Asp1109Glu) | ClinVar dbSNP |
8 | g.60853217T>C | CA461105068 | CHD7 | c.6492T>C (p.Asp2164=) c.1717-9012T>C (n.1717-9012T>C) c.6582T>C (p.Asp2194=) c.4569T>C (p.Asp1523=) c.4119T>C (p.Asp1373=) c.3327T>C (p.Asp1109=) | dbSNP |
8 | g.60853217T>G | CA371325452 | CHD7 | c.6492T>G (p.Asp2164Glu) c.1717-9012T>G (n.1717-9012T>G) c.6582T>G (p.Asp2194Glu) c.4569T>G (p.Asp1523Glu) c.4119T>G (p.Asp1373Glu) c.3327T>G (p.Asp1109Glu) | |
8 | g.60853217T= | CA1788104188 | CHD7 | c.6492T= (p.Asp2164=) c.1717-9012T= (n.1717-9012T=) c.6582T= (p.Asp2194=) c.4569T= (p.Asp1523=) c.4119T= (p.Asp1373=) c.3327T= (p.Asp1109=) | |
8 | g.60853217_60853218dup | CA2695209426 | CHD7 | c.6492_6493dup (p.Glu2165ValfsTer?) c.1717-9012_1717-9011dup (n.1717-9012_1717-9011dup) c.6582_6583dup (p.Glu2195ValfsTer?) c.4569_4570dup (p.Glu1524ValfsTer?) c.4119_4120dup (p.Glu1374ValfsTer?) c.3327_3328dup (p.Glu1110ValfsTer?) | |
8 | g.60853218G>A | CA371325453 | CHD7 | c.6493G>A (p.Glu2165Lys) c.1717-9011G>A (n.1717-9011G>A) c.6583G>A (p.Glu2195Lys) c.4570G>A (p.Glu1524Lys) c.4120G>A (p.Glu1374Lys) c.3328G>A (p.Glu1110Lys) | |
8 | g.60853218G>C | CA371325454 | CHD7 | c.6493G>C (p.Glu2165Gln) c.1717-9011G>C (n.1717-9011G>C) c.6583G>C (p.Glu2195Gln) c.4570G>C (p.Glu1524Gln) c.4120G>C (p.Glu1374Gln) c.3328G>C (p.Glu1110Gln) | |
8 | g.60853218G>T | CA371325455 | CHD7 | c.6493G>T (p.Glu2165Ter) c.1717-9011G>T (n.1717-9011G>T) c.6583G>T (p.Glu2195Ter) c.4570G>T (p.Glu1524Ter) c.4120G>T (p.Glu1374Ter) c.3328G>T (p.Glu1110Ter) | |
8 | g.60853219A= | CA1788104196 | CHD7 | c.6494A= (p.Glu2165=) c.1717-9010A= (n.1717-9010A=) c.6584A= (p.Glu2195=) c.4571A= (p.Glu1524=) c.4121A= (p.Glu1374=) c.3329A= (p.Glu1110=) | |
8 | g.60853219A>C | CA371325461 | CHD7 | c.6494A>C (p.Glu2165Ala) c.1717-9010A>C (n.1717-9010A>C) c.6584A>C (p.Glu2195Ala) c.4571A>C (p.Glu1524Ala) c.4121A>C (p.Glu1374Ala) c.3329A>C (p.Glu1110Ala) | |
8 | g.60853219A>G | CA4760599 | CHD7 | c.6494A>G (p.Glu2165Gly) c.1717-9010A>G (n.1717-9010A>G) c.6584A>G (p.Glu2195Gly) c.4571A>G (p.Glu1524Gly) c.4121A>G (p.Glu1374Gly) c.3329A>G (p.Glu1110Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853219A>T | CA371325463 | CHD7 | c.6494A>T (p.Glu2165Val) c.1717-9010A>T (n.1717-9010A>T) c.6584A>T (p.Glu2195Val) c.4571A>T (p.Glu1524Val) c.4121A>T (p.Glu1374Val) c.3329A>T (p.Glu1110Val) | |
8 | g.60853220G>A | CA461105069 | CHD7 | c.6495G>A (p.Glu2165=) c.1717-9009G>A (n.1717-9009G>A) c.6585G>A (p.Glu2195=) c.4572G>A (p.Glu1524=) c.4122G>A (p.Glu1374=) c.3330G>A (p.Glu1110=) | |
8 | g.60853220G>C | CA371325465 | CHD7 | c.6495G>C (p.Glu2165Asp) c.1717-9009G>C (n.1717-9009G>C) c.6585G>C (p.Glu2195Asp) c.4572G>C (p.Glu1524Asp) c.4122G>C (p.Glu1374Asp) c.3330G>C (p.Glu1110Asp) | |
8 | g.60853220G>T | CA371325468 | CHD7 | c.6495G>T (p.Glu2165Asp) c.1717-9009G>T (n.1717-9009G>T) c.6585G>T (p.Glu2195Asp) c.4572G>T (p.Glu1524Asp) c.4122G>T (p.Glu1374Asp) c.3330G>T (p.Glu1110Asp) | |
8 | g.60853221A>C | CA461105070 | CHD7 | c.6496A>C (p.Arg2166=) c.1717-9008A>C (n.1717-9008A>C) c.6586A>C (p.Arg2196=) c.4573A>C (p.Arg1525=) c.4123A>C (p.Arg1375=) c.3331A>C (p.Arg1111=) | |
8 | g.60853221A>G | CA371325474 | CHD7 | c.6496A>G (p.Arg2166Gly) c.1717-9008A>G (n.1717-9008A>G) c.6586A>G (p.Arg2196Gly) c.4573A>G (p.Arg1525Gly) c.4123A>G (p.Arg1375Gly) c.3331A>G (p.Arg1111Gly) | |
8 | g.60853221A>T | CA371325475 | CHD7 | c.6496A>T (p.Arg2166Trp) c.1717-9008A>T (n.1717-9008A>T) c.6586A>T (p.Arg2196Trp) c.4573A>T (p.Arg1525Trp) c.4123A>T (p.Arg1375Trp) c.3331A>T (p.Arg1111Trp) | |
8 | g.60853222G>A | CA4760600 | CHD7 | c.6497G>A (p.Arg2166Lys) c.1717-9007G>A (n.1717-9007G>A) c.6587G>A (p.Arg2196Lys) c.4574G>A (p.Arg1525Lys) c.4124G>A (p.Arg1375Lys) c.3332G>A (p.Arg1111Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60853222G>C | CA371325479 | CHD7 | c.6497G>C (p.Arg2166Thr) c.1717-9007G>C (n.1717-9007G>C) c.6587G>C (p.Arg2196Thr) c.4574G>C (p.Arg1525Thr) c.4124G>C (p.Arg1375Thr) c.3332G>C (p.Arg1111Thr) | |
8 | g.60853222G= | CA1788104203 | CHD7 | c.6497G= (p.Arg2166=) c.1717-9007G= (n.1717-9007G=) c.6587G= (p.Arg2196=) c.4574G= (p.Arg1525=) c.4124G= (p.Arg1375=) c.3332G= (p.Arg1111=) | |
8 | g.60853222G>T | CA371325482 | CHD7 | c.6497G>T (p.Arg2166Met) c.1717-9007G>T (n.1717-9007G>T) c.6587G>T (p.Arg2196Met) c.4574G>T (p.Arg1525Met) c.4124G>T (p.Arg1375Met) c.3332G>T (p.Arg1111Met) | |
8 | g.60853223G>A | CA461105071 | CHD7 | c.6498G>A (p.Arg2166=) c.1717-9006G>A (n.1717-9006G>A) c.6588G>A (p.Arg2196=) c.4575G>A (p.Arg1525=) c.4125G>A (p.Arg1375=) c.3333G>A (p.Arg1111=) | |
8 | g.60853223G>C | CA371325484 | CHD7 | c.6498G>C (p.Arg2166Ser) c.1717-9006G>C (n.1717-9006G>C) c.6588G>C (p.Arg2196Ser) c.4575G>C (p.Arg1525Ser) c.4125G>C (p.Arg1375Ser) c.3333G>C (p.Arg1111Ser) | |
8 | g.60853223G>T | CA371325486 | CHD7 | c.6498G>T (p.Arg2166Ser) c.1717-9006G>T (n.1717-9006G>T) c.6588G>T (p.Arg2196Ser) c.4575G>T (p.Arg1525Ser) c.4125G>T (p.Arg1375Ser) c.3333G>T (p.Arg1111Ser) | gnomAD v4 |
8 | g.60853224G>A | CA177354136 | CHD7 | c.6499G>A (p.Val2167Ile) c.1717-9005G>A (n.1717-9005G>A) c.6589G>A (p.Val2197Ile) c.4576G>A (p.Val1526Ile) c.4126G>A (p.Val1376Ile) c.3334G>A (p.Val1112Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853224G>C | CA371325491 | CHD7 | c.6499G>C (p.Val2167Leu) c.1717-9005G>C (n.1717-9005G>C) c.6589G>C (p.Val2197Leu) c.4576G>C (p.Val1526Leu) c.4126G>C (p.Val1376Leu) c.3334G>C (p.Val1112Leu) | |
8 | g.60853224G= | CA1788104218 | CHD7 | c.6499G= (p.Val2167=) c.1717-9005G= (n.1717-9005G=) c.6589G= (p.Val2197=) c.4576G= (p.Val1526=) c.4126G= (p.Val1376=) c.3334G= (p.Val1112=) | |
8 | g.60853224G>T | CA371325489 | CHD7 | c.6499G>T (p.Val2167Leu) c.1717-9005G>T (n.1717-9005G>T) c.6589G>T (p.Val2197Leu) c.4576G>T (p.Val1526Leu) c.4126G>T (p.Val1376Leu) c.3334G>T (p.Val1112Leu) | dbSNP gnomAD v4 |
8 | g.60853225T>A | CA371325496 | CHD7 | c.6500T>A (p.Val2167Glu) c.1717-9004T>A (n.1717-9004T>A) c.6590T>A (p.Val2197Glu) c.4577T>A (p.Val1526Glu) c.4127T>A (p.Val1376Glu) c.3335T>A (p.Val1112Glu) | dbSNP |
8 | g.60853225T>C | CA371325497 | CHD7 | c.6500T>C (p.Val2167Ala) c.1717-9004T>C (n.1717-9004T>C) c.6590T>C (p.Val2197Ala) c.4577T>C (p.Val1526Ala) c.4127T>C (p.Val1376Ala) c.3335T>C (p.Val1112Ala) | |
8 | g.60853225T>G | CA371325499 | CHD7 | c.6500T>G (p.Val2167Gly) c.1717-9004T>G (n.1717-9004T>G) c.6590T>G (p.Val2197Gly) c.4577T>G (p.Val1526Gly) c.4127T>G (p.Val1376Gly) c.3335T>G (p.Val1112Gly) | dbSNP |
8 | g.60853225T= | CA1788104223 | CHD7 | c.6500T= (p.Val2167=) c.1717-9004T= (n.1717-9004T=) c.6590T= (p.Val2197=) c.4577T= (p.Val1526=) c.4127T= (p.Val1376=) c.3335T= (p.Val1112=) | |
8 | g.60853226A>C | CA461105072 | CHD7 | c.6501A>C (p.Val2167=) c.1717-9003A>C (n.1717-9003A>C) c.6591A>C (p.Val2197=) c.4578A>C (p.Val1526=) c.4128A>C (p.Val1376=) c.3336A>C (p.Val1112=) | |
8 | g.60853226A>G | CA461105073 | CHD7 | c.6501A>G (p.Val2167=) c.1717-9003A>G (n.1717-9003A>G) c.6591A>G (p.Val2197=) c.4578A>G (p.Val1526=) c.4128A>G (p.Val1376=) c.3336A>G (p.Val1112=) | |
8 | g.60853226A>T | CA461105074 | CHD7 | c.6501A>T (p.Val2167=) c.1717-9003A>T (n.1717-9003A>T) c.6591A>T (p.Val2197=) c.4578A>T (p.Val1526=) c.4128A>T (p.Val1376=) c.3336A>T (p.Val1112=) | |
8 | g.60853227del | CA2695209427 | CHD7 | c.6502del (p.Leu2168TrpfsTer?) c.1717-9002del (n.1717-9002del) c.6592del (p.Leu2198TrpfsTer?) c.4579del (p.Leu1527TrpfsTer?) c.4129del (p.Leu1377TrpfsTer?) c.3337del (p.Leu1113TrpfsTer?) | |
8 | g.60853227C>A | CA371325501 | CHD7 | c.6502C>A (p.Leu2168Met) c.1717-9002C>A (n.1717-9002C>A) c.6592C>A (p.Leu2198Met) c.4579C>A (p.Leu1527Met) c.4129C>A (p.Leu1377Met) c.3337C>A (p.Leu1113Met) | |
8 | g.60853227C= | CA1788104224 | CHD7 | c.6502C= (p.Leu2168=) c.1717-9002C= (n.1717-9002C=) c.6592C= (p.Leu2198=) c.4579C= (p.Leu1527=) c.4129C= (p.Leu1377=) c.3337C= (p.Leu1113=) | |
8 | g.60853227C>G | CA371325503 | CHD7 | c.6502C>G (p.Leu2168Val) c.1717-9002C>G (n.1717-9002C>G) c.6592C>G (p.Leu2198Val) c.4579C>G (p.Leu1527Val) c.4129C>G (p.Leu1377Val) c.3337C>G (p.Leu1113Val) | dbSNP |
8 | g.60853227C>T | CA461105075 | CHD7 | c.6502C>T (p.Leu2168=) c.1717-9002C>T (n.1717-9002C>T) c.6592C>T (p.Leu2198=) c.4579C>T (p.Leu1527=) c.4129C>T (p.Leu1377=) c.3337C>T (p.Leu1113=) | |
8 | g.60853228T>A | CA371325504 | CHD7 | c.6503T>A (p.Leu2168Gln) c.1717-9001T>A (n.1717-9001T>A) c.6593T>A (p.Leu2198Gln) c.4580T>A (p.Leu1527Gln) c.4130T>A (p.Leu1377Gln) c.3338T>A (p.Leu1113Gln) | |
8 | g.60853228T>C | CA371325506 | CHD7 | c.6503T>C (p.Leu2168Pro) c.1717-9001T>C (n.1717-9001T>C) c.6593T>C (p.Leu2198Pro) c.4580T>C (p.Leu1527Pro) c.4130T>C (p.Leu1377Pro) c.3338T>C (p.Leu1113Pro) | |
8 | g.60853228T>G | CA371325507 | CHD7 | c.6503T>G (p.Leu2168Arg) c.1717-9001T>G (n.1717-9001T>G) c.6593T>G (p.Leu2198Arg) c.4580T>G (p.Leu1527Arg) c.4130T>G (p.Leu1377Arg) c.3338T>G (p.Leu1113Arg) | gnomAD v4 |
8 | g.60853229G>A | CA461105076 | CHD7 | c.6504G>A (p.Leu2168=) c.1717-9000G>A (n.1717-9000G>A) c.6594G>A (p.Leu2198=) c.4581G>A (p.Leu1527=) c.4131G>A (p.Leu1377=) c.3339G>A (p.Leu1113=) | |
8 | g.60853229G>C | CA461105077 | CHD7 | c.6504G>C (p.Leu2168=) c.1717-9000G>C (n.1717-9000G>C) c.6594G>C (p.Leu2198=) c.4581G>C (p.Leu1527=) c.4131G>C (p.Leu1377=) c.3339G>C (p.Leu1113=) | |
8 | g.60853229G>T | CA461105078 | CHD7 | c.6504G>T (p.Leu2168=) c.1717-9000G>T (n.1717-9000G>T) c.6594G>T (p.Leu2198=) c.4581G>T (p.Leu1527=) c.4131G>T (p.Leu1377=) c.3339G>T (p.Leu1113=) | |
8 | g.60853230G>A | CA371325510 | CHD7 | c.6505G>A (p.Glu2169Lys) c.1717-8999G>A (n.1717-8999G>A) c.6595G>A (p.Glu2199Lys) c.4582G>A (p.Glu1528Lys) c.4132G>A (p.Glu1378Lys) c.3340G>A (p.Glu1114Lys) | dbSNP gnomAD v2 |
8 | g.60853230G>C | CA371325513 | CHD7 | c.6505G>C (p.Glu2169Gln) c.1717-8999G>C (n.1717-8999G>C) c.6595G>C (p.Glu2199Gln) c.4582G>C (p.Glu1528Gln) c.4132G>C (p.Glu1378Gln) c.3340G>C (p.Glu1114Gln) | |
8 | g.60853230G= | CA1788104227 | CHD7 | c.6505G= (p.Glu2169=) c.1717-8999G= (n.1717-8999G=) c.6595G= (p.Glu2199=) c.4582G= (p.Glu1528=) c.4132G= (p.Glu1378=) c.3340G= (p.Glu1114=) | |
8 | g.60853230G>T | CA371325515 | CHD7 | c.6505G>T (p.Glu2169Ter) c.1717-8999G>T (n.1717-8999G>T) c.6595G>T (p.Glu2199Ter) c.4582G>T (p.Glu1528Ter) c.4132G>T (p.Glu1378Ter) c.3340G>T (p.Glu1114Ter) | |
8 | g.60853231A>C | CA371325521 | CHD7 | c.6506A>C (p.Glu2169Ala) c.1717-8998A>C (n.1717-8998A>C) c.6596A>C (p.Glu2199Ala) c.4583A>C (p.Glu1528Ala) c.4133A>C (p.Glu1378Ala) c.3341A>C (p.Glu1114Ala) | |
8 | g.60853231A>G | CA371325519 | CHD7 | c.6506A>G (p.Glu2169Gly) c.1717-8998A>G (n.1717-8998A>G) c.6596A>G (p.Glu2199Gly) c.4583A>G (p.Glu1528Gly) c.4133A>G (p.Glu1378Gly) c.3341A>G (p.Glu1114Gly) | |
8 | g.60853231A>T | CA371325517 | CHD7 | c.6506A>T (p.Glu2169Val) c.1717-8998A>T (n.1717-8998A>T) c.6596A>T (p.Glu2199Val) c.4583A>T (p.Glu1528Val) c.4133A>T (p.Glu1378Val) c.3341A>T (p.Glu1114Val) | |
8 | g.60853232A>C | CA371325523 | CHD7 | c.6507A>C (p.Glu2169Asp) c.1717-8997A>C (n.1717-8997A>C) c.6597A>C (p.Glu2199Asp) c.4584A>C (p.Glu1528Asp) c.4134A>C (p.Glu1378Asp) c.3342A>C (p.Glu1114Asp) | |
8 | g.60853232A>G | CA461105079 | CHD7 | c.6507A>G (p.Glu2169=) c.1717-8997A>G (n.1717-8997A>G) c.6597A>G (p.Glu2199=) c.4584A>G (p.Glu1528=) c.4134A>G (p.Glu1378=) c.3342A>G (p.Glu1114=) | |
8 | g.60853232A>T | CA371325524 | CHD7 | c.6507A>T (p.Glu2169Asp) c.1717-8997A>T (n.1717-8997A>T) c.6597A>T (p.Glu2199Asp) c.4584A>T (p.Glu1528Asp) c.4134A>T (p.Glu1378Asp) c.3342A>T (p.Glu1114Asp) | |
8 | g.60853233C>A | CA4760601 | CHD7 | c.6508C>A (p.Gln2170Lys) c.1717-8996C>A (n.1717-8996C>A) c.6598C>A (p.Gln2200Lys) c.4585C>A (p.Gln1529Lys) c.4135C>A (p.Gln1379Lys) c.3343C>A (p.Gln1115Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60853233C= | CA1788104238 | CHD7 | c.6508C= (p.Gln2170=) c.1717-8996C= (n.1717-8996C=) c.6598C= (p.Gln2200=) c.4585C= (p.Gln1529=) c.4135C= (p.Gln1379=) c.3343C= (p.Gln1115=) | |
8 | g.60853233C>G | CA371325527 | CHD7 | c.6508C>G (p.Gln2170Glu) c.1717-8996C>G (n.1717-8996C>G) c.6598C>G (p.Gln2200Glu) c.4585C>G (p.Gln1529Glu) c.4135C>G (p.Gln1379Glu) c.3343C>G (p.Gln1115Glu) | |
8 | g.60853233C>T | CA371325529 | CHD7 | c.6508C>T (p.Gln2170Ter) c.1717-8996C>T (n.1717-8996C>T) c.6598C>T (p.Gln2200Ter) c.4585C>T (p.Gln1529Ter) c.4135C>T (p.Gln1379Ter) c.3343C>T (p.Gln1115Ter) | |
8 | g.60853234A>C | CA371325532 | CHD7 | c.6509A>C (p.Gln2170Pro) c.1717-8995A>C (n.1717-8995A>C) c.6599A>C (p.Gln2200Pro) c.4586A>C (p.Gln1529Pro) c.4136A>C (p.Gln1379Pro) c.3344A>C (p.Gln1115Pro) | |
8 | g.60853234A>G | CA371325533 | CHD7 | c.6509A>G (p.Gln2170Arg) c.1717-8995A>G (n.1717-8995A>G) c.6599A>G (p.Gln2200Arg) c.4586A>G (p.Gln1529Arg) c.4136A>G (p.Gln1379Arg) c.3344A>G (p.Gln1115Arg) | |
8 | g.60853234A>T | CA371325535 | CHD7 | c.6509A>T (p.Gln2170Leu) c.1717-8995A>T (n.1717-8995A>T) c.6599A>T (p.Gln2200Leu) c.4586A>T (p.Gln1529Leu) c.4136A>T (p.Gln1379Leu) c.3344A>T (p.Gln1115Leu) | |
8 | g.60853235A>C | CA371325537 | CHD7 | c.6510A>C (p.Gln2170His) c.1717-8994A>C (n.1717-8994A>C) c.6600A>C (p.Gln2200His) c.4587A>C (p.Gln1529His) c.4137A>C (p.Gln1379His) c.3345A>C (p.Gln1115His) | |
8 | g.60853235A>G | CA461105081 | CHD7 | c.6510A>G (p.Gln2170=) c.1717-8994A>G (n.1717-8994A>G) c.6600A>G (p.Gln2200=) c.4587A>G (p.Gln1529=) c.4137A>G (p.Gln1379=) c.3345A>G (p.Gln1115=) | |
8 | g.60853235A>T | CA371325539 | CHD7 | c.6510A>T (p.Gln2170His) c.1717-8994A>T (n.1717-8994A>T) c.6600A>T (p.Gln2200His) c.4587A>T (p.Gln1529His) c.4137A>T (p.Gln1379His) c.3345A>T (p.Gln1115His) | |
8 | g.60853236G>A | CA371325540 | CHD7 | c.6511G>A (p.Ala2171Thr) c.1717-8993G>A (n.1717-8993G>A) c.6601G>A (p.Ala2201Thr) c.4588G>A (p.Ala1530Thr) c.4138G>A (p.Ala1380Thr) c.3346G>A (p.Ala1116Thr) | dbSNP |
8 | g.60853236G>C | CA371325541 | CHD7 | c.6511G>C (p.Ala2171Pro) c.1717-8993G>C (n.1717-8993G>C) c.6601G>C (p.Ala2201Pro) c.4588G>C (p.Ala1530Pro) c.4138G>C (p.Ala1380Pro) c.3346G>C (p.Ala1116Pro) | |
8 | g.60853236G>T | CA371325542 | CHD7 | c.6511G>T (p.Ala2171Ser) c.1717-8993G>T (n.1717-8993G>T) c.6601G>T (p.Ala2201Ser) c.4588G>T (p.Ala1530Ser) c.4138G>T (p.Ala1380Ser) c.3346G>T (p.Ala1116Ser) | |
8 | g.60853237C>A | CA371325544 | CHD7 | c.6512C>A (p.Ala2171Asp) c.1717-8992C>A (n.1717-8992C>A) c.6602C>A (p.Ala2201Asp) c.4589C>A (p.Ala1530Asp) c.4139C>A (p.Ala1380Asp) c.3347C>A (p.Ala1116Asp) | |
8 | g.60853237C>G | CA371325546 | CHD7 | c.6512C>G (p.Ala2171Gly) c.1717-8992C>G (n.1717-8992C>G) c.6602C>G (p.Ala2201Gly) c.4589C>G (p.Ala1530Gly) c.4139C>G (p.Ala1380Gly) c.3347C>G (p.Ala1116Gly) | |
8 | g.60853237C>T | CA371325543 | CHD7 | c.6512C>T (p.Ala2171Val) c.1717-8992C>T (n.1717-8992C>T) c.6602C>T (p.Ala2201Val) c.4589C>T (p.Ala1530Val) c.4139C>T (p.Ala1380Val) c.3347C>T (p.Ala1116Val) | gnomAD v4 |
8 | g.60853238C>A | CA177354140 | CHD7 | c.6513C>A (p.Ala2171=) c.1717-8991C>A (n.1717-8991C>A) c.6603C>A (p.Ala2201=) c.4590C>A (p.Ala1530=) c.4140C>A (p.Ala1380=) c.3348C>A (p.Ala1116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853238C= | CA1788104247 | CHD7 | c.6513C= (p.Ala2171=) c.1717-8991C= (n.1717-8991C=) c.6603C= (p.Ala2201=) c.4590C= (p.Ala1530=) c.4140C= (p.Ala1380=) c.3348C= (p.Ala1116=) | |
8 | g.60853238C>G | CA461105086 | CHD7 | c.6513C>G (p.Ala2171=) c.1717-8991C>G (n.1717-8991C>G) c.6603C>G (p.Ala2201=) c.4590C>G (p.Ala1530=) c.4140C>G (p.Ala1380=) c.3348C>G (p.Ala1116=) | |
8 | g.60853238C>T | CA223315 | CHD7 | c.6513C>T (p.Ala2171=) c.1717-8991C>T (n.1717-8991C>T) c.6603C>T (p.Ala2201=) c.4590C>T (p.Ala1530=) c.4140C>T (p.Ala1380=) c.3348C>T (p.Ala1116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853239G>A | CA4760602 | CHD7 | c.6514G>A (p.Glu2172Lys) c.1717-8990G>A (n.1717-8990G>A) c.6604G>A (p.Glu2202Lys) c.4591G>A (p.Glu1531Lys) c.4141G>A (p.Glu1381Lys) c.3349G>A (p.Glu1117Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60853239G>C | CA371325549 | CHD7 | c.6514G>C (p.Glu2172Gln) c.1717-8990G>C (n.1717-8990G>C) c.6604G>C (p.Glu2202Gln) c.4591G>C (p.Glu1531Gln) c.4141G>C (p.Glu1381Gln) c.3349G>C (p.Glu1117Gln) | |
8 | g.60853239G= | CA1788104258 | CHD7 | c.6514G= (p.Glu2172=) c.1717-8990G= (n.1717-8990G=) c.6604G= (p.Glu2202=) c.4591G= (p.Glu1531=) c.4141G= (p.Glu1381=) c.3349G= (p.Glu1117=) | |
8 | g.60853239G>T | CA371325550 | CHD7 | c.6514G>T (p.Glu2172Ter) c.1717-8990G>T (n.1717-8990G>T) c.6604G>T (p.Glu2202Ter) c.4591G>T (p.Glu1531Ter) c.4141G>T (p.Glu1381Ter) c.3349G>T (p.Glu1117Ter) | ClinVar dbSNP |
8 | g.60853240A>C | CA371325552 | CHD7 | c.6515A>C (p.Glu2172Ala) c.1717-8989A>C (n.1717-8989A>C) c.6605A>C (p.Glu2202Ala) c.4592A>C (p.Glu1531Ala) c.4142A>C (p.Glu1381Ala) c.3350A>C (p.Glu1117Ala) | |
8 | g.60853240A>G | CA371325554 | CHD7 | c.6515A>G (p.Glu2172Gly) c.1717-8989A>G (n.1717-8989A>G) c.6605A>G (p.Glu2202Gly) c.4592A>G (p.Glu1531Gly) c.4142A>G (p.Glu1381Gly) c.3350A>G (p.Glu1117Gly) | |
8 | g.60853240A>T | CA371325555 | CHD7 | c.6515A>T (p.Glu2172Val) c.1717-8989A>T (n.1717-8989A>T) c.6605A>T (p.Glu2202Val) c.4592A>T (p.Glu1531Val) c.4142A>T (p.Glu1381Val) c.3350A>T (p.Glu1117Val) | |
8 | g.60853241A>C | CA371325558 | CHD7 | c.6516A>C (p.Glu2172Asp) c.1717-8988A>C (n.1717-8988A>C) c.6606A>C (p.Glu2202Asp) c.4593A>C (p.Glu1531Asp) c.4143A>C (p.Glu1381Asp) c.3351A>C (p.Glu1117Asp) | |
8 | g.60853241A>G | CA461105088 | CHD7 | c.6516A>G (p.Glu2172=) c.1717-8988A>G (n.1717-8988A>G) c.6606A>G (p.Glu2202=) c.4593A>G (p.Glu1531=) c.4143A>G (p.Glu1381=) c.3351A>G (p.Glu1117=) | |
8 | g.60853241A>T | CA371325557 | CHD7 | c.6516A>T (p.Glu2172Asp) c.1717-8988A>T (n.1717-8988A>T) c.6606A>T (p.Glu2202Asp) c.4593A>T (p.Glu1531Asp) c.4143A>T (p.Glu1381Asp) c.3351A>T (p.Glu1117Asp) | |
8 | g.60853242G>A | CA371325561 | CHD7 | c.6517G>A (p.Gly2173Ser) c.1717-8987G>A (n.1717-8987G>A) c.6607G>A (p.Gly2203Ser) c.4594G>A (p.Gly1532Ser) c.4144G>A (p.Gly1382Ser) c.3352G>A (p.Gly1118Ser) | |
8 | g.60853242G>C | CA371325562 | CHD7 | c.6517G>C (p.Gly2173Arg) c.1717-8987G>C (n.1717-8987G>C) c.6607G>C (p.Gly2203Arg) c.4594G>C (p.Gly1532Arg) c.4144G>C (p.Gly1382Arg) c.3352G>C (p.Gly1118Arg) | |
8 | g.60853242G>T | CA371325564 | CHD7 | c.6517G>T (p.Gly2173Cys) c.1717-8987G>T (n.1717-8987G>T) c.6607G>T (p.Gly2203Cys) c.4594G>T (p.Gly1532Cys) c.4144G>T (p.Gly1382Cys) c.3352G>T (p.Gly1118Cys) | |
8 | g.60853243G>A | CA371325565 | CHD7 | c.6518G>A (p.Gly2173Asp) c.1717-8986G>A (n.1717-8986G>A) c.6608G>A (p.Gly2203Asp) c.4595G>A (p.Gly1532Asp) c.4145G>A (p.Gly1382Asp) c.3353G>A (p.Gly1118Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853243G>C | CA371325566 | CHD7 | c.6518G>C (p.Gly2173Ala) c.1717-8986G>C (n.1717-8986G>C) c.6608G>C (p.Gly2203Ala) c.4595G>C (p.Gly1532Ala) c.4145G>C (p.Gly1382Ala) c.3353G>C (p.Gly1118Ala) | |
8 | g.60853243G= | CA1788104264 | CHD7 | c.6518G= (p.Gly2173=) c.1717-8986G= (n.1717-8986G=) c.6608G= (p.Gly2203=) c.4595G= (p.Gly1532=) c.4145G= (p.Gly1382=) c.3353G= (p.Gly1118=) | |
8 | g.60853243G>T | CA371325568 | CHD7 | c.6518G>T (p.Gly2173Val) c.1717-8986G>T (n.1717-8986G>T) c.6608G>T (p.Gly2203Val) c.4595G>T (p.Gly1532Val) c.4145G>T (p.Gly1382Val) c.3353G>T (p.Gly1118Val) | |
8 | g.60853244C>A | CA461105092 | CHD7 | c.6519C>A (p.Gly2173=) c.1717-8985C>A (n.1717-8985C>A) c.6609C>A (p.Gly2203=) c.4596C>A (p.Gly1532=) c.4146C>A (p.Gly1382=) c.3354C>A (p.Gly1118=) | |
8 | g.60853244C>G | CA461105093 | CHD7 | c.6519C>G (p.Gly2173=) c.1717-8985C>G (n.1717-8985C>G) c.6609C>G (p.Gly2203=) c.4596C>G (p.Gly1532=) c.4146C>G (p.Gly1382=) c.3354C>G (p.Gly1118=) | |
8 | g.60853244C>T | CA461105094 | CHD7 | c.6519C>T (p.Gly2173=) c.1717-8985C>T (n.1717-8985C>T) c.6609C>T (p.Gly2203=) c.4596C>T (p.Gly1532=) c.4146C>T (p.Gly1382=) c.3354C>T (p.Gly1118=) | |
8 | g.60853245A>C | CA371325570 | CHD7 | c.6520A>C (p.Lys2174Gln) c.1717-8984A>C (n.1717-8984A>C) c.6610A>C (p.Lys2204Gln) c.4597A>C (p.Lys1533Gln) c.4147A>C (p.Lys1383Gln) c.3355A>C (p.Lys1119Gln) | |
8 | g.60853245A>G | CA371325573 | CHD7 | c.6520A>G (p.Lys2174Glu) c.1717-8984A>G (n.1717-8984A>G) c.6610A>G (p.Lys2204Glu) c.4597A>G (p.Lys1533Glu) c.4147A>G (p.Lys1383Glu) c.3355A>G (p.Lys1119Glu) | |
8 | g.60853245A>T | CA371325572 | CHD7 | c.6520A>T (p.Lys2174Ter) c.1717-8984A>T (n.1717-8984A>T) c.6610A>T (p.Lys2204Ter) c.4597A>T (p.Lys1533Ter) c.4147A>T (p.Lys1383Ter) c.3355A>T (p.Lys1119Ter) | |
8 | g.60853246A= | CA1788104271 | CHD7 | c.6521A= (p.Lys2174=) c.1717-8983A= (n.1717-8983A=) c.6611A= (p.Lys2204=) c.4598A= (p.Lys1533=) c.4148A= (p.Lys1383=) c.3356A= (p.Lys1119=) | |
8 | g.60853246A>C | CA371325574 | CHD7 | c.6521A>C (p.Lys2174Thr) c.1717-8983A>C (n.1717-8983A>C) c.6611A>C (p.Lys2204Thr) c.4598A>C (p.Lys1533Thr) c.4148A>C (p.Lys1383Thr) c.3356A>C (p.Lys1119Thr) | gnomAD v4 |
8 | g.60853246A>G | CA371325576 | CHD7 | c.6521A>G (p.Lys2174Arg) c.1717-8983A>G (n.1717-8983A>G) c.6611A>G (p.Lys2204Arg) c.4598A>G (p.Lys1533Arg) c.4148A>G (p.Lys1383Arg) c.3356A>G (p.Lys1119Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853246A>T | CA371325577 | CHD7 | c.6521A>T (p.Lys2174Ile) c.1717-8983A>T (n.1717-8983A>T) c.6611A>T (p.Lys2204Ile) c.4598A>T (p.Lys1533Ile) c.4148A>T (p.Lys1383Ile) c.3356A>T (p.Lys1119Ile) | |
8 | g.60853246_60853250del | CA2580078863 | CHD7 | c.6521_6525del (p.Lys2174ArgfsTer4) c.1717-8983_1717-8979del (n.1717-8983_1717-8979del) c.6611_6615del (p.Lys2204ArgfsTer4) c.4598_4602del (p.Lys1533ArgfsTer4) c.4148_4152del (p.Lys1383ArgfsTer4) c.3356_3360del (p.Lys1119ArgfsTer4) | ClinVar |
8 | g.60853247A= | CA1788104276 | CHD7 | c.6522A= (p.Lys2174=) c.1717-8982A= (n.1717-8982A=) c.6612A= (p.Lys2204=) c.4599A= (p.Lys1533=) c.4149A= (p.Lys1383=) c.3357A= (p.Lys1119=) | |
8 | g.60853247A>C | CA371325583 | CHD7 | c.6522A>C (p.Lys2174Asn) c.1717-8982A>C (n.1717-8982A>C) c.6612A>C (p.Lys2204Asn) c.4599A>C (p.Lys1533Asn) c.4149A>C (p.Lys1383Asn) c.3357A>C (p.Lys1119Asn) | |
8 | g.60853247A>G | CA461105099 | CHD7 | c.6522A>G (p.Lys2174=) c.1717-8982A>G (n.1717-8982A>G) c.6612A>G (p.Lys2204=) c.4599A>G (p.Lys1533=) c.4149A>G (p.Lys1383=) c.3357A>G (p.Lys1119=) | gnomAD v4 |
8 | g.60853247A>T | CA4760603 | CHD7 | c.6522A>T (p.Lys2174Asn) c.1717-8982A>T (n.1717-8982A>T) c.6612A>T (p.Lys2204Asn) c.4599A>T (p.Lys1533Asn) c.4149A>T (p.Lys1383Asn) c.3357A>T (p.Lys1119Asn) | dbSNP ExAC gnomAD v2 |
8 | g.60853248G>A | CA371325588 | CHD7 | c.6523G>A (p.Val2175Met) c.1717-8981G>A (n.1717-8981G>A) c.6613G>A (p.Val2205Met) c.4600G>A (p.Val1534Met) c.4150G>A (p.Val1384Met) c.3358G>A (p.Val1120Met) | dbSNP gnomAD v4 |
8 | g.60853248G>C | CA371325589 | CHD7 | c.6523G>C (p.Val2175Leu) c.1717-8981G>C (n.1717-8981G>C) c.6613G>C (p.Val2205Leu) c.4600G>C (p.Val1534Leu) c.4150G>C (p.Val1384Leu) c.3358G>C (p.Val1120Leu) | |
8 | g.60853248G= | CA1788104293 | CHD7 | c.6523G= (p.Val2175=) c.1717-8981G= (n.1717-8981G=) c.6613G= (p.Val2205=) c.4600G= (p.Val1534=) c.4150G= (p.Val1384=) c.3358G= (p.Val1120=) | |
8 | g.60853248G>T | CA371325590 | CHD7 | c.6523G>T (p.Val2175Leu) c.1717-8981G>T (n.1717-8981G>T) c.6613G>T (p.Val2205Leu) c.4600G>T (p.Val1534Leu) c.4150G>T (p.Val1384Leu) c.3358G>T (p.Val1120Leu) | |
8 | g.60853249T>A | CA371325592 | CHD7 | c.6524T>A (p.Val2175Glu) c.1717-8980T>A (n.1717-8980T>A) c.6614T>A (p.Val2205Glu) c.4601T>A (p.Val1534Glu) c.4151T>A (p.Val1384Glu) c.3359T>A (p.Val1120Glu) | |
8 | g.60853249T>C | CA371325593 | CHD7 | c.6524T>C (p.Val2175Ala) c.1717-8980T>C (n.1717-8980T>C) c.6614T>C (p.Val2205Ala) c.4601T>C (p.Val1534Ala) c.4151T>C (p.Val1384Ala) c.3359T>C (p.Val1120Ala) | |
8 | g.60853249T>G | CA371325595 | CHD7 | c.6524T>G (p.Val2175Gly) c.1717-8980T>G (n.1717-8980T>G) c.6614T>G (p.Val2205Gly) c.4601T>G (p.Val1534Gly) c.4151T>G (p.Val1384Gly) c.3359T>G (p.Val1120Gly) | dbSNP |
8 | g.60853249T= | CA1788104302 | CHD7 | c.6524T= (p.Val2175=) c.1717-8980T= (n.1717-8980T=) c.6614T= (p.Val2205=) c.4601T= (p.Val1534=) c.4151T= (p.Val1384=) c.3359T= (p.Val1120=) | |
8 | g.60853249_60853250delinsTG | CA1788104299 | CHD7 | c.6524_6525delinsTG (p.Val2175=) c.1717-8980_1717-8979delinsTG (n.1717-8980_1717-8979delinsTG) c.6614_6615delinsTG (p.Val2205=) c.4601_4602delinsTG (p.Val1534=) c.4151_4152delinsTG (p.Val1384=) c.3359_3360delinsTG (p.Val1120=) | |
8 | g.60853250G>A | CA461105105 | CHD7 | c.6525G>A (p.Val2175=) c.1717-8979G>A (n.1717-8979G>A) c.6615G>A (p.Val2205=) c.4602G>A (p.Val1534=) c.4152G>A (p.Val1384=) c.3360G>A (p.Val1120=) | |
8 | g.60853250G>C | CA461105104 | CHD7 | c.6525G>C (p.Val2175=) c.1717-8979G>C (n.1717-8979G>C) c.6615G>C (p.Val2205=) c.4602G>C (p.Val1534=) c.4152G>C (p.Val1384=) c.3360G>C (p.Val1120=) | |
8 | g.60853250G>T | CA461105103 | CHD7 | c.6525G>T (p.Val2175=) c.1717-8979G>T (n.1717-8979G>T) c.6615G>T (p.Val2205=) c.4602G>T (p.Val1534=) c.4152G>T (p.Val1384=) c.3360G>T (p.Val1120=) | |
8 | g.60853251del | CA277453 | CHD7 | c.6526del (p.Glu2176ArgfsTer?) c.1717-8978del (n.1717-8978del) c.6616del (p.Glu2206ArgfsTer?) c.4603del (p.Glu1535ArgfsTer?) c.4153del (p.Glu1385ArgfsTer?) c.3361del (p.Glu1121ArgfsTer?) | ClinVar dbSNP |
8 | g.60853251G>A | CA371325598 | CHD7 | c.6526G>A (p.Glu2176Lys) c.1717-8978G>A (n.1717-8978G>A) c.6616G>A (p.Glu2206Lys) c.4603G>A (p.Glu1535Lys) c.4153G>A (p.Glu1385Lys) c.3361G>A (p.Glu1121Lys) | dbSNP gnomAD v2 |
8 | g.60853251G>C | CA371325597 | CHD7 | c.6526G>C (p.Glu2176Gln) c.1717-8978G>C (n.1717-8978G>C) c.6616G>C (p.Glu2206Gln) c.4603G>C (p.Glu1535Gln) c.4153G>C (p.Glu1385Gln) c.3361G>C (p.Glu1121Gln) | |
8 | g.60853251G= | CA1788104322 | CHD7 | c.6526G= (p.Glu2176=) c.1717-8978G= (n.1717-8978G=) c.6616G= (p.Glu2206=) c.4603G= (p.Glu1535=) c.4153G= (p.Glu1385=) c.3361G= (p.Glu1121=) | |
8 | g.60853251G>T | CA371325601 | CHD7 | c.6526G>T (p.Glu2176Ter) c.1717-8978G>T (n.1717-8978G>T) c.6616G>T (p.Glu2206Ter) c.4603G>T (p.Glu1535Ter) c.4153G>T (p.Glu1385Ter) c.3361G>T (p.Glu1121Ter) | |
8 | g.60853252A>C | CA371325602 | CHD7 | c.6527A>C (p.Glu2176Ala) c.1717-8977A>C (n.1717-8977A>C) c.6617A>C (p.Glu2206Ala) c.4604A>C (p.Glu1535Ala) c.4154A>C (p.Glu1385Ala) c.3362A>C (p.Glu1121Ala) | |
8 | g.60853252A>G | CA371325604 | CHD7 | c.6527A>G (p.Glu2176Gly) c.1717-8977A>G (n.1717-8977A>G) c.6617A>G (p.Glu2206Gly) c.4604A>G (p.Glu1535Gly) c.4154A>G (p.Glu1385Gly) c.3362A>G (p.Glu1121Gly) | gnomAD v4 |
8 | g.60853252A>T | CA371325606 | CHD7 | c.6527A>T (p.Glu2176Val) c.1717-8977A>T (n.1717-8977A>T) c.6617A>T (p.Glu2206Val) c.4604A>T (p.Glu1535Val) c.4154A>T (p.Glu1385Val) c.3362A>T (p.Glu1121Val) | |
8 | g.60853253G>A | CA461105109 | CHD7 | c.6528G>A (p.Glu2176=) c.1717-8976G>A (n.1717-8976G>A) c.6618G>A (p.Glu2206=) c.4605G>A (p.Glu1535=) c.4155G>A (p.Glu1385=) c.3363G>A (p.Glu1121=) | |
8 | g.60853253G>C | CA371325607 | CHD7 | c.6528G>C (p.Glu2176Asp) c.1717-8976G>C (n.1717-8976G>C) c.6618G>C (p.Glu2206Asp) c.4605G>C (p.Glu1535Asp) c.4155G>C (p.Glu1385Asp) c.3363G>C (p.Glu1121Asp) | |
8 | g.60853253G>T | CA371325609 | CHD7 | c.6528G>T (p.Glu2176Asp) c.1717-8976G>T (n.1717-8976G>T) c.6618G>T (p.Glu2206Asp) c.4605G>T (p.Glu1535Asp) c.4155G>T (p.Glu1385Asp) c.3363G>T (p.Glu1121Asp) | |
8 | g.60853254G>A | CA4760604 | CHD7 | c.6529G>A (p.Glu2177Lys) c.1717-8975G>A (n.1717-8975G>A) c.6619G>A (p.Glu2207Lys) c.4606G>A (p.Glu1536Lys) c.4156G>A (p.Glu1386Lys) c.3364G>A (p.Glu1122Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60853254G>C | CA371325613 | CHD7 | c.6529G>C (p.Glu2177Gln) c.1717-8975G>C (n.1717-8975G>C) c.6619G>C (p.Glu2207Gln) c.4606G>C (p.Glu1536Gln) c.4156G>C (p.Glu1386Gln) c.3364G>C (p.Glu1122Gln) | |
8 | g.60853254G= | CA1788104332 | CHD7 | c.6529G= (p.Glu2177=) c.1717-8975G= (n.1717-8975G=) c.6619G= (p.Glu2207=) c.4606G= (p.Glu1536=) c.4156G= (p.Glu1386=) c.3364G= (p.Glu1122=) | |
8 | g.60853254G>T | CA275208 | CHD7 | c.6529G>T (p.Glu2177Ter) c.1717-8975G>T (n.1717-8975G>T) c.6619G>T (p.Glu2207Ter) c.4606G>T (p.Glu1536Ter) c.4156G>T (p.Glu1386Ter) c.3364G>T (p.Glu1122Ter) | ClinVar dbSNP |
8 | g.60853255A>C | CA371325617 | CHD7 | c.6530A>C (p.Glu2177Ala) c.1717-8974A>C (n.1717-8974A>C) c.6620A>C (p.Glu2207Ala) c.4607A>C (p.Glu1536Ala) c.4157A>C (p.Glu1386Ala) c.3365A>C (p.Glu1122Ala) | |
8 | g.60853255A>G | CA371325619 | CHD7 | c.6530A>G (p.Glu2177Gly) c.1717-8974A>G (n.1717-8974A>G) c.6620A>G (p.Glu2207Gly) c.4607A>G (p.Glu1536Gly) c.4157A>G (p.Glu1386Gly) c.3365A>G (p.Glu1122Gly) | |
8 | g.60853255A>T | CA371325620 | CHD7 | c.6530A>T (p.Glu2177Val) c.1717-8974A>T (n.1717-8974A>T) c.6620A>T (p.Glu2207Val) c.4607A>T (p.Glu1536Val) c.4157A>T (p.Glu1386Val) c.3365A>T (p.Glu1122Val) | |
8 | g.60853256G>A | CA461105111 | CHD7 | c.6531G>A (p.Glu2177=) c.1717-8973G>A (n.1717-8973G>A) c.6621G>A (p.Glu2207=) c.4608G>A (p.Glu1536=) c.4158G>A (p.Glu1386=) c.3366G>A (p.Glu1122=) | ClinVar |
8 | g.60853256G>C | CA371325621 | CHD7 | c.6531G>C (p.Glu2177Asp) c.1717-8973G>C (n.1717-8973G>C) c.6621G>C (p.Glu2207Asp) c.4608G>C (p.Glu1536Asp) c.4158G>C (p.Glu1386Asp) c.3366G>C (p.Glu1122Asp) | gnomAD v4 |
8 | g.60853256G>T | CA371325622 | CHD7 | c.6531G>T (p.Glu2177Asp) c.1717-8973G>T (n.1717-8973G>T) c.6621G>T (p.Glu2207Asp) c.4608G>T (p.Glu1536Asp) c.4158G>T (p.Glu1386Asp) c.3366G>T (p.Glu1122Asp) | |
8 | g.60853256dup | CA2573143274 | CHD7 | c.6531dup (p.Pro2178AlafsTer2) c.1717-8973dup (n.1717-8973dup) c.6621dup (p.Pro2208AlafsTer2) c.4608dup (p.Pro1537AlafsTer2) c.4158dup (p.Pro1387AlafsTer2) c.3366dup (p.Pro1123AlafsTer2) | ClinVar dbSNP |
8 | g.60853257C>A | CA371325625 | CHD7 | c.6532C>A (p.Pro2178Thr) c.1717-8972C>A (n.1717-8972C>A) c.6622C>A (p.Pro2208Thr) c.4609C>A (p.Pro1537Thr) c.4159C>A (p.Pro1387Thr) c.3367C>A (p.Pro1123Thr) | |
8 | g.60853257C>G | CA371325627 | CHD7 | c.6532C>G (p.Pro2178Ala) c.1717-8972C>G (n.1717-8972C>G) c.6622C>G (p.Pro2208Ala) c.4609C>G (p.Pro1537Ala) c.4159C>G (p.Pro1387Ala) c.3367C>G (p.Pro1123Ala) | |
8 | g.60853257C>T | CA371325626 | CHD7 | c.6532C>T (p.Pro2178Ser) c.1717-8972C>T (n.1717-8972C>T) c.6622C>T (p.Pro2208Ser) c.4609C>T (p.Pro1537Ser) c.4159C>T (p.Pro1387Ser) c.3367C>T (p.Pro1123Ser) | dbSNP |
8 | g.60853258C>A | CA371325629 | CHD7 | c.6533C>A (p.Pro2178His) c.1717-8971C>A (n.1717-8971C>A) c.6623C>A (p.Pro2208His) c.4610C>A (p.Pro1537His) c.4160C>A (p.Pro1387His) c.3368C>A (p.Pro1123His) | |
8 | g.60853258C= | CA1788104342 | CHD7 | c.6533C= (p.Pro2178=) c.1717-8971C= (n.1717-8971C=) c.6623C= (p.Pro2208=) c.4610C= (p.Pro1537=) c.4160C= (p.Pro1387=) c.3368C= (p.Pro1123=) | |
8 | g.60853258C>G | CA371325630 | CHD7 | c.6533C>G (p.Pro2178Arg) c.1717-8971C>G (n.1717-8971C>G) c.6623C>G (p.Pro2208Arg) c.4610C>G (p.Pro1537Arg) c.4160C>G (p.Pro1387Arg) c.3368C>G (p.Pro1123Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853258C>T | CA371325631 | CHD7 | c.6533C>T (p.Pro2178Leu) c.1717-8971C>T (n.1717-8971C>T) c.6623C>T (p.Pro2208Leu) c.4610C>T (p.Pro1537Leu) c.4160C>T (p.Pro1387Leu) c.3368C>T (p.Pro1123Leu) | |
8 | g.60853259T>A | CA461105114 | CHD7 | c.6534T>A (p.Pro2178=) c.1717-8970T>A (n.1717-8970T>A) c.6624T>A (p.Pro2208=) c.4611T>A (p.Pro1537=) c.4161T>A (p.Pro1387=) c.3369T>A (p.Pro1123=) | |
8 | g.60853259T>C | CA177354148 | CHD7 | c.6534T>C (p.Pro2178=) c.1717-8970T>C (n.1717-8970T>C) c.6624T>C (p.Pro2208=) c.4611T>C (p.Pro1537=) c.4161T>C (p.Pro1387=) c.3369T>C (p.Pro1123=) | dbSNP gnomAD v4 |
8 | g.60853259T>G | CA461105116 | CHD7 | c.6534T>G (p.Pro2178=) c.1717-8970T>G (n.1717-8970T>G) c.6624T>G (p.Pro2208=) c.4611T>G (p.Pro1537=) c.4161T>G (p.Pro1387=) c.3369T>G (p.Pro1123=) | |
8 | g.60853259T= | CA1788104348 | CHD7 | c.6534T= (p.Pro2178=) c.1717-8970T= (n.1717-8970T=) c.6624T= (p.Pro2208=) c.4611T= (p.Pro1537=) c.4161T= (p.Pro1387=) c.3369T= (p.Pro1123=) | |
8 | g.60853260G>A | CA371325634 | CHD7 | c.6535G>A (p.Glu2179Lys) c.1717-8969G>A (n.1717-8969G>A) c.6625G>A (p.Glu2209Lys) c.4612G>A (p.Glu1538Lys) c.4162G>A (p.Glu1388Lys) c.3370G>A (p.Glu1124Lys) | |
8 | g.60853260G>C | CA371325635 | CHD7 | c.6535G>C (p.Glu2179Gln) c.1717-8969G>C (n.1717-8969G>C) c.6625G>C (p.Glu2209Gln) c.4612G>C (p.Glu1538Gln) c.4162G>C (p.Glu1388Gln) c.3370G>C (p.Glu1124Gln) | |
8 | g.60853260G>T | CA371325636 | CHD7 | c.6535G>T (p.Glu2179Ter) c.1717-8969G>T (n.1717-8969G>T) c.6625G>T (p.Glu2209Ter) c.4612G>T (p.Glu1538Ter) c.4162G>T (p.Glu1388Ter) c.3370G>T (p.Glu1124Ter) | |
8 | g.60853261A= | CA1788104357 | CHD7 | c.6536A= (p.Glu2179=) c.1717-8968A= (n.1717-8968A=) c.6626A= (p.Glu2209=) c.4613A= (p.Glu1538=) c.4163A= (p.Glu1388=) c.3371A= (p.Glu1124=) | |
8 | g.60853261A>C | CA371325638 | CHD7 | c.6536A>C (p.Glu2179Ala) c.1717-8968A>C (n.1717-8968A>C) c.6626A>C (p.Glu2209Ala) c.4613A>C (p.Glu1538Ala) c.4163A>C (p.Glu1388Ala) c.3371A>C (p.Glu1124Ala) | |
8 | g.60853261A>G | CA371325639 | CHD7 | c.6536A>G (p.Glu2179Gly) c.1717-8968A>G (n.1717-8968A>G) c.6626A>G (p.Glu2209Gly) c.4613A>G (p.Glu1538Gly) c.4163A>G (p.Glu1388Gly) c.3371A>G (p.Glu1124Gly) | ClinVar dbSNP |
8 | g.60853261A>T | CA371325640 | CHD7 | c.6536A>T (p.Glu2179Val) c.1717-8968A>T (n.1717-8968A>T) c.6626A>T (p.Glu2209Val) c.4613A>T (p.Glu1538Val) c.4163A>T (p.Glu1388Val) c.3371A>T (p.Glu1124Val) | |
8 | g.60853262A>C | CA371325641 | CHD7 | c.6537A>C (p.Glu2179Asp) c.1717-8967A>C (n.1717-8967A>C) c.6627A>C (p.Glu2209Asp) c.4614A>C (p.Glu1538Asp) c.4164A>C (p.Glu1388Asp) c.3372A>C (p.Glu1124Asp) | |
8 | g.60853262A>G | CA461105122 | CHD7 | c.6537A>G (p.Glu2179=) c.1717-8967A>G (n.1717-8967A>G) c.6627A>G (p.Glu2209=) c.4614A>G (p.Glu1538=) c.4164A>G (p.Glu1388=) c.3372A>G (p.Glu1124=) | |
8 | g.60853262A>T | CA371325642 | CHD7 | c.6537A>T (p.Glu2179Asp) c.1717-8967A>T (n.1717-8967A>T) c.6627A>T (p.Glu2209Asp) c.4614A>T (p.Glu1538Asp) c.4164A>T (p.Glu1388Asp) c.3372A>T (p.Glu1124Asp) | |
8 | g.60853263A>C | CA371325645 | CHD7 | c.6538A>C (p.Asn2180His) c.1717-8966A>C (n.1717-8966A>C) c.6628A>C (p.Asn2210His) c.4615A>C (p.Asn1539His) c.4165A>C (p.Asn1389His) c.3373A>C (p.Asn1125His) | |
8 | g.60853263A>G | CA371325646 | CHD7 | c.6538A>G (p.Asn2180Asp) c.1717-8966A>G (n.1717-8966A>G) c.6628A>G (p.Asn2210Asp) c.4615A>G (p.Asn1539Asp) c.4165A>G (p.Asn1389Asp) c.3373A>G (p.Asn1125Asp) | |
8 | g.60853263A>T | CA371325643 | CHD7 | c.6538A>T (p.Asn2180Tyr) c.1717-8966A>T (n.1717-8966A>T) c.6628A>T (p.Asn2210Tyr) c.4615A>T (p.Asn1539Tyr) c.4165A>T (p.Asn1389Tyr) c.3373A>T (p.Asn1125Tyr) | |
8 | g.60853264A= | CA1788104367 | CHD7 | c.6539A= (p.Asn2180=) c.1717-8965A= (n.1717-8965A=) c.6629A= (p.Asn2210=) c.4616A= (p.Asn1539=) c.4166A= (p.Asn1389=) c.3374A= (p.Asn1125=) | |
8 | g.60853264A>C | CA371325650 | CHD7 | c.6539A>C (p.Asn2180Thr) c.1717-8965A>C (n.1717-8965A>C) c.6629A>C (p.Asn2210Thr) c.4616A>C (p.Asn1539Thr) c.4166A>C (p.Asn1389Thr) c.3374A>C (p.Asn1125Thr) | dbSNP |
8 | g.60853264A>G | CA371325648 | CHD7 | c.6539A>G (p.Asn2180Ser) c.1717-8965A>G (n.1717-8965A>G) c.6629A>G (p.Asn2210Ser) c.4616A>G (p.Asn1539Ser) c.4166A>G (p.Asn1389Ser) c.3374A>G (p.Asn1125Ser) | gnomAD v4 |
8 | g.60853264A>T | CA371325652 | CHD7 | c.6539A>T (p.Asn2180Ile) c.1717-8965A>T (n.1717-8965A>T) c.6629A>T (p.Asn2210Ile) c.4616A>T (p.Asn1539Ile) c.4166A>T (p.Asn1389Ile) c.3374A>T (p.Asn1125Ile) | |
8 | g.60853265C>A | CA371325653 | CHD7 | c.6540C>A (p.Asn2180Lys) c.1717-8964C>A (n.1717-8964C>A) c.6630C>A (p.Asn2210Lys) c.4617C>A (p.Asn1539Lys) c.4167C>A (p.Asn1389Lys) c.3375C>A (p.Asn1125Lys) | |
8 | g.60853265C>G | CA371325655 | CHD7 | c.6540C>G (p.Asn2180Lys) c.1717-8964C>G (n.1717-8964C>G) c.6630C>G (p.Asn2210Lys) c.4617C>G (p.Asn1539Lys) c.4167C>G (p.Asn1389Lys) c.3375C>G (p.Asn1125Lys) | |
8 | g.60853265C>T | CA461105125 | CHD7 | c.6540C>T (p.Asn2180=) c.1717-8964C>T (n.1717-8964C>T) c.6630C>T (p.Asn2210=) c.4617C>T (p.Asn1539=) c.4167C>T (p.Asn1389=) c.3375C>T (p.Asn1125=) | |
8 | g.60853266C>A | CA371325657 | CHD7 | c.6541C>A (p.Pro2181Thr) c.1717-8963C>A (n.1717-8963C>A) c.6631C>A (p.Pro2211Thr) c.4618C>A (p.Pro1540Thr) c.4168C>A (p.Pro1390Thr) c.3376C>A (p.Pro1126Thr) | |
8 | g.60853266C= | CA1788104389 | CHD7 | c.6541C= (p.Pro2181=) c.1717-8963C= (n.1717-8963C=) c.6631C= (p.Pro2211=) c.4618C= (p.Pro1540=) c.4168C= (p.Pro1390=) c.3376C= (p.Pro1126=) | |
8 | g.60853266C>G | CA371325659 | CHD7 | c.6541C>G (p.Pro2181Ala) c.1717-8963C>G (n.1717-8963C>G) c.6631C>G (p.Pro2211Ala) c.4618C>G (p.Pro1540Ala) c.4168C>G (p.Pro1390Ala) c.3376C>G (p.Pro1126Ala) | |
8 | g.60853266C>T | CA371325660 | CHD7 | c.6541C>T (p.Pro2181Ser) c.1717-8963C>T (n.1717-8963C>T) c.6631C>T (p.Pro2211Ser) c.4618C>T (p.Pro1540Ser) c.4168C>T (p.Pro1390Ser) c.3376C>T (p.Pro1126Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853267C>A | CA371325661 | CHD7 | c.6542C>A (p.Pro2181Gln) c.1717-8962C>A (n.1717-8962C>A) c.6632C>A (p.Pro2211Gln) c.4619C>A (p.Pro1540Gln) c.4169C>A (p.Pro1390Gln) c.3377C>A (p.Pro1126Gln) | |
8 | g.60853267C>G | CA371325662 | CHD7 | c.6542C>G (p.Pro2181Arg) c.1717-8962C>G (n.1717-8962C>G) c.6632C>G (p.Pro2211Arg) c.4619C>G (p.Pro1540Arg) c.4169C>G (p.Pro1390Arg) c.3377C>G (p.Pro1126Arg) | |
8 | g.60853267C>T | CA371325664 | CHD7 | c.6542C>T (p.Pro2181Leu) c.1717-8962C>T (n.1717-8962C>T) c.6632C>T (p.Pro2211Leu) c.4619C>T (p.Pro1540Leu) c.4169C>T (p.Pro1390Leu) c.3377C>T (p.Pro1126Leu) | gnomAD v4 |
8 | g.60853268A>C | CA461105130 | CHD7 | c.6543A>C (p.Pro2181=) c.1717-8961A>C (n.1717-8961A>C) c.6633A>C (p.Pro2211=) c.4620A>C (p.Pro1540=) c.4170A>C (p.Pro1390=) c.3378A>C (p.Pro1126=) | |
8 | g.60853268A>G | CA461105131 | CHD7 | c.6543A>G (p.Pro2181=) c.1717-8961A>G (n.1717-8961A>G) c.6633A>G (p.Pro2211=) c.4620A>G (p.Pro1540=) c.4170A>G (p.Pro1390=) c.3378A>G (p.Pro1126=) | |
8 | g.60853268A>T | CA461105132 | CHD7 | c.6543A>T (p.Pro2181=) c.1717-8961A>T (n.1717-8961A>T) c.6633A>T (p.Pro2211=) c.4620A>T (p.Pro1540=) c.4170A>T (p.Pro1390=) c.3378A>T (p.Pro1126=) | |
8 | g.60853269G>A | CA371325667 | CHD7 | c.6544G>A (p.Ala2182Thr) c.1717-8960G>A (n.1717-8960G>A) c.6634G>A (p.Ala2212Thr) c.4621G>A (p.Ala1541Thr) c.4171G>A (p.Ala1391Thr) c.3379G>A (p.Ala1127Thr) | |
8 | g.60853269G>C | CA371325668 | CHD7 | c.6544G>C (p.Ala2182Pro) c.1717-8960G>C (n.1717-8960G>C) c.6634G>C (p.Ala2212Pro) c.4621G>C (p.Ala1541Pro) c.4171G>C (p.Ala1391Pro) c.3379G>C (p.Ala1127Pro) | |
8 | g.60853269G>T | CA371325669 | CHD7 | c.6544G>T (p.Ala2182Ser) c.1717-8960G>T (n.1717-8960G>T) c.6634G>T (p.Ala2212Ser) c.4621G>T (p.Ala1541Ser) c.4171G>T (p.Ala1391Ser) c.3379G>T (p.Ala1127Ser) | |
8 | g.60853270C>A | CA371325671 | CHD7 | c.6545C>A (p.Ala2182Asp) c.1717-8959C>A (n.1717-8959C>A) c.6635C>A (p.Ala2212Asp) c.4622C>A (p.Ala1541Asp) c.4172C>A (p.Ala1391Asp) c.3380C>A (p.Ala1127Asp) | dbSNP gnomAD v2 |
8 | g.60853270C= | CA1788104390 | CHD7 | c.6545C= (p.Ala2182=) c.1717-8959C= (n.1717-8959C=) c.6635C= (p.Ala2212=) c.4622C= (p.Ala1541=) c.4172C= (p.Ala1391=) c.3380C= (p.Ala1127=) | |
8 | g.60853270C>G | CA371325673 | CHD7 | c.6545C>G (p.Ala2182Gly) c.1717-8959C>G (n.1717-8959C>G) c.6635C>G (p.Ala2212Gly) c.4622C>G (p.Ala1541Gly) c.4172C>G (p.Ala1391Gly) c.3380C>G (p.Ala1127Gly) | gnomAD v4 |
8 | g.60853270C>T | CA371325674 | CHD7 | c.6545C>T (p.Ala2182Val) c.1717-8959C>T (n.1717-8959C>T) c.6635C>T (p.Ala2212Val) c.4622C>T (p.Ala1541Val) c.4172C>T (p.Ala1391Val) c.3380C>T (p.Ala1127Val) | |
8 | g.60853271T>A | CA461105136 | CHD7 | c.6546T>A (p.Ala2182=) c.1717-8958T>A (n.1717-8958T>A) c.6636T>A (p.Ala2212=) c.4623T>A (p.Ala1541=) c.4173T>A (p.Ala1391=) c.3381T>A (p.Ala1127=) | |
8 | g.60853271T>C | CA461105137 | CHD7 | c.6546T>C (p.Ala2182=) c.1717-8958T>C (n.1717-8958T>C) c.6636T>C (p.Ala2212=) c.4623T>C (p.Ala1541=) c.4173T>C (p.Ala1391=) c.3381T>C (p.Ala1127=) | |
8 | g.60853271T>G | CA461105138 | CHD7 | c.6546T>G (p.Ala2182=) c.1717-8958T>G (n.1717-8958T>G) c.6636T>G (p.Ala2212=) c.4623T>G (p.Ala1541=) c.4173T>G (p.Ala1391=) c.3381T>G (p.Ala1127=) | |
8 | g.60853272G>A | CA371325679 | CHD7 | c.6547G>A (p.Ala2183Thr) c.1717-8957G>A (n.1717-8957G>A) c.6637G>A (p.Ala2213Thr) c.4624G>A (p.Ala1542Thr) c.4174G>A (p.Ala1392Thr) c.3382G>A (p.Ala1128Thr) | gnomAD v4 |
8 | g.60853272G>C | CA371325676 | CHD7 | c.6547G>C (p.Ala2183Pro) c.1717-8957G>C (n.1717-8957G>C) c.6637G>C (p.Ala2213Pro) c.4624G>C (p.Ala1542Pro) c.4174G>C (p.Ala1392Pro) c.3382G>C (p.Ala1128Pro) | |
8 | g.60853272G>T | CA371325677 | CHD7 | c.6547G>T (p.Ala2183Ser) c.1717-8957G>T (n.1717-8957G>T) c.6637G>T (p.Ala2213Ser) c.4624G>T (p.Ala1542Ser) c.4174G>T (p.Ala1392Ser) c.3382G>T (p.Ala1128Ser) | |
8 | g.60853273C>A | CA371325683 | CHD7 | c.6548C>A (p.Ala2183Asp) c.1717-8956C>A (n.1717-8956C>A) c.6638C>A (p.Ala2213Asp) c.4625C>A (p.Ala1542Asp) c.4175C>A (p.Ala1392Asp) c.3383C>A (p.Ala1128Asp) | |
8 | g.60853273C= | CA1788104395 | CHD7 | c.6548C= (p.Ala2183=) c.1717-8956C= (n.1717-8956C=) c.6638C= (p.Ala2213=) c.4625C= (p.Ala1542=) c.4175C= (p.Ala1392=) c.3383C= (p.Ala1128=) | |
8 | g.60853273C>G | CA371325685 | CHD7 | c.6548C>G (p.Ala2183Gly) c.1717-8956C>G (n.1717-8956C>G) c.6638C>G (p.Ala2213Gly) c.4625C>G (p.Ala1542Gly) c.4175C>G (p.Ala1392Gly) c.3383C>G (p.Ala1128Gly) | |
8 | g.60853273C>T | CA4760605 | CHD7 | c.6548C>T (p.Ala2183Val) c.1717-8956C>T (n.1717-8956C>T) c.6638C>T (p.Ala2213Val) c.4625C>T (p.Ala1542Val) c.4175C>T (p.Ala1392Val) c.3383C>T (p.Ala1128Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60853274C>A | CA461105140 | CHD7 | c.6549C>A (p.Ala2183=) c.1717-8955C>A (n.1717-8955C>A) c.6639C>A (p.Ala2213=) c.4626C>A (p.Ala1542=) c.4176C>A (p.Ala1392=) c.3384C>A (p.Ala1128=) | dbSNP gnomAD v2 |
8 | g.60853274C= | CA1788104403 | CHD7 | c.6549C= (p.Ala2183=) c.1717-8955C= (n.1717-8955C=) c.6639C= (p.Ala2213=) c.4626C= (p.Ala1542=) c.4176C= (p.Ala1392=) c.3384C= (p.Ala1128=) | |
8 | g.60853274C>G | CA461105142 | CHD7 | c.6549C>G (p.Ala2183=) c.1717-8955C>G (n.1717-8955C>G) c.6639C>G (p.Ala2213=) c.4626C>G (p.Ala1542=) c.4176C>G (p.Ala1392=) c.3384C>G (p.Ala1128=) | |
8 | g.60853274C>T | CA461105143 | CHD7 | c.6549C>T (p.Ala2183=) c.1717-8955C>T (n.1717-8955C>T) c.6639C>T (p.Ala2213=) c.4626C>T (p.Ala1542=) c.4176C>T (p.Ala1392=) c.3384C>T (p.Ala1128=) | gnomAD v4 |
8 | g.60853275A>C | CA371325687 | CHD7 | c.6550A>C (p.Lys2184Gln) c.1717-8954A>C (n.1717-8954A>C) c.6640A>C (p.Lys2214Gln) c.4627A>C (p.Lys1543Gln) c.4177A>C (p.Lys1393Gln) c.3385A>C (p.Lys1129Gln) | |
8 | g.60853275A>G | CA371325688 | CHD7 | c.6550A>G (p.Lys2184Glu) c.1717-8954A>G (n.1717-8954A>G) c.6640A>G (p.Lys2214Glu) c.4627A>G (p.Lys1543Glu) c.4177A>G (p.Lys1393Glu) c.3385A>G (p.Lys1129Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60853275A>T | CA371325690 | CHD7 | c.6550A>T (p.Lys2184Ter) c.1717-8954A>T (n.1717-8954A>T) c.6640A>T (p.Lys2214Ter) c.4627A>T (p.Lys1543Ter) c.4177A>T (p.Lys1393Ter) c.3385A>T (p.Lys1129Ter) | |
8 | g.60853276A= | CA1788104408 | CHD7 | c.6551A= (p.Lys2184=) c.1717-8953A= (n.1717-8953A=) c.6641A= (p.Lys2214=) c.4628A= (p.Lys1543=) c.4178A= (p.Lys1393=) c.3386A= (p.Lys1129=) | |
8 | g.60853276A>C | CA371325692 | CHD7 | c.6551A>C (p.Lys2184Thr) c.1717-8953A>C (n.1717-8953A>C) c.6641A>C (p.Lys2214Thr) c.4628A>C (p.Lys1543Thr) c.4178A>C (p.Lys1393Thr) c.3386A>C (p.Lys1129Thr) | |
8 | g.60853276A>G | CA371325693 | CHD7 | c.6551A>G (p.Lys2184Arg) c.1717-8953A>G (n.1717-8953A>G) c.6641A>G (p.Lys2214Arg) c.4628A>G (p.Lys1543Arg) c.4178A>G (p.Lys1393Arg) c.3386A>G (p.Lys1129Arg) | |
8 | g.60853276A>T | CA177354151 | CHD7 | c.6551A>T (p.Lys2184Met) c.1717-8953A>T (n.1717-8953A>T) c.6641A>T (p.Lys2214Met) c.4628A>T (p.Lys1543Met) c.4178A>T (p.Lys1393Met) c.3386A>T (p.Lys1129Met) | ClinVar dbSNP gnomAD v4 |
8 | g.60853277G>A | CA461105147 | CHD7 | c.6552G>A (p.Lys2184=) c.1717-8952G>A (n.1717-8952G>A) c.6642G>A (p.Lys2214=) c.4629G>A (p.Lys1543=) c.4179G>A (p.Lys1393=) c.3387G>A (p.Lys1129=) | dbSNP |
8 | g.60853277G>C | CA371325694 | CHD7 | c.6552G>C (p.Lys2184Asn) c.1717-8952G>C (n.1717-8952G>C) c.6642G>C (p.Lys2214Asn) c.4629G>C (p.Lys1543Asn) c.4179G>C (p.Lys1393Asn) c.3387G>C (p.Lys1129Asn) | |
8 | g.60853277G= | CA1788104413 | CHD7 | c.6552G= (p.Lys2184=) c.1717-8952G= (n.1717-8952G=) c.6642G= (p.Lys2214=) c.4629G= (p.Lys1543=) c.4179G= (p.Lys1393=) c.3387G= (p.Lys1129=) | |
8 | g.60853277G>T | CA371325696 | CHD7 | c.6552G>T (p.Lys2184Asn) c.1717-8952G>T (n.1717-8952G>T) c.6642G>T (p.Lys2214Asn) c.4629G>T (p.Lys1543Asn) c.4179G>T (p.Lys1393Asn) c.3387G>T (p.Lys1129Asn) | |
8 | g.60853278G>A | CA371325700 | CHD7 | c.6553G>A (p.Glu2185Lys) c.1717-8951G>A (n.1717-8951G>A) c.6643G>A (p.Glu2215Lys) c.4630G>A (p.Glu1544Lys) c.4180G>A (p.Glu1394Lys) c.3388G>A (p.Glu1130Lys) | gnomAD v4 |
8 | g.60853278G>C | CA371325698 | CHD7 | c.6553G>C (p.Glu2185Gln) c.1717-8951G>C (n.1717-8951G>C) c.6643G>C (p.Glu2215Gln) c.4630G>C (p.Glu1544Gln) c.4180G>C (p.Glu1394Gln) c.3388G>C (p.Glu1130Gln) | |
8 | g.60853278G= | CA1788104418 | CHD7 | c.6553G= (p.Glu2185=) c.1717-8951G= (n.1717-8951G=) c.6643G= (p.Glu2215=) c.4630G= (p.Glu1544=) c.4180G= (p.Glu1394=) c.3388G= (p.Glu1130=) | |
8 | g.60853278G>T | CA4760606 | CHD7 | c.6553G>T (p.Glu2185Ter) c.1717-8951G>T (n.1717-8951G>T) c.6643G>T (p.Glu2215Ter) c.4630G>T (p.Glu1544Ter) c.4180G>T (p.Glu1394Ter) c.3388G>T (p.Glu1130Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853278_60853279delinsTT | CA2573053032 | CHD7 | c.6553_6554delinsTT (p.Glu2185Leu) c.1717-8951_1717-8950delinsTT (n.1717-8951_1717-8950delinsTT) c.6643_6644delinsTT (p.Glu2215Leu) c.4630_4631delinsTT (p.Glu1544Leu) c.4180_4181delinsTT (p.Glu1394Leu) c.3388_3389delinsTT (p.Glu1130Leu) | ClinVar dbSNP |