UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852964T>A | CA371324510 | CHD7 | c.6239T>A (p.Leu2080His) c.1717-9265T>A (n.1717-9265T>A) c.6329T>A (p.Leu2110His) c.4316T>A (p.Leu1439His) c.3866T>A (p.Leu1289His) c.3074T>A (p.Leu1025His) | |
| 8 | g.60852964T>C | CA16618676 | CHD7 | c.6239T>C (p.Leu2080Pro) c.1717-9265T>C (n.1717-9265T>C) c.6329T>C (p.Leu2110Pro) c.4316T>C (p.Leu1439Pro) c.3866T>C (p.Leu1289Pro) c.3074T>C (p.Leu1025Pro) | ClinVar dbSNP |
| 8 | g.60852964T>G | CA371324511 | CHD7 | c.6239T>G (p.Leu2080Arg) c.1717-9265T>G (n.1717-9265T>G) c.6329T>G (p.Leu2110Arg) c.4316T>G (p.Leu1439Arg) c.3866T>G (p.Leu1289Arg) c.3074T>G (p.Leu1025Arg) | |
| 8 | g.60852964T= | CA1788103065 | CHD7 | c.6239T= (p.Leu2080=) c.1717-9265T= (n.1717-9265T=) c.6329T= (p.Leu2110=) c.4316T= (p.Leu1439=) c.3866T= (p.Leu1289=) c.3074T= (p.Leu1025=) | |
| 8 | g.60852965C>A | CA461105133 | CHD7 | c.6240C>A (p.Leu2080=) c.1717-9264C>A (n.1717-9264C>A) c.6330C>A (p.Leu2110=) c.4317C>A (p.Leu1439=) c.3867C>A (p.Leu1289=) c.3075C>A (p.Leu1025=) | |
| 8 | g.60852965C>G | CA461105134 | CHD7 | c.6240C>G (p.Leu2080=) c.1717-9264C>G (n.1717-9264C>G) c.6330C>G (p.Leu2110=) c.4317C>G (p.Leu1439=) c.3867C>G (p.Leu1289=) c.3075C>G (p.Leu1025=) | ClinVar gnomAD v4 |
| 8 | g.60852965C>T | CA461105135 | CHD7 | c.6240C>T (p.Leu2080=) c.1717-9264C>T (n.1717-9264C>T) c.6330C>T (p.Leu2110=) c.4317C>T (p.Leu1439=) c.3867C>T (p.Leu1289=) c.3075C>T (p.Leu1025=) | COSMIC |
| 8 | g.60852966T>A | CA371324512 | CHD7 | c.6241T>A (p.Cys2081Ser) c.1717-9263T>A (n.1717-9263T>A) c.6331T>A (p.Cys2111Ser) c.4318T>A (p.Cys1440Ser) c.3868T>A (p.Cys1290Ser) c.3076T>A (p.Cys1026Ser) | |
| 8 | g.60852966T>C | CA371324513 | CHD7 | c.6241T>C (p.Cys2081Arg) c.1717-9263T>C (n.1717-9263T>C) c.6331T>C (p.Cys2111Arg) c.4318T>C (p.Cys1440Arg) c.3868T>C (p.Cys1290Arg) c.3076T>C (p.Cys1026Arg) | ClinVar dbSNP |
| 8 | g.60852966T>G | CA371324514 | CHD7 | c.6241T>G (p.Cys2081Gly) c.1717-9263T>G (n.1717-9263T>G) c.6331T>G (p.Cys2111Gly) c.4318T>G (p.Cys1440Gly) c.3868T>G (p.Cys1290Gly) c.3076T>G (p.Cys1026Gly) | |
| 8 | g.60852967del | CA2697549947 | CHD7 | c.6242del (p.Cys2081SerfsTer?) c.1717-9262del (n.1717-9262del) c.6332del (p.Cys2111SerfsTer?) c.4319del (p.Cys1440SerfsTer?) c.3869del (p.Cys1290SerfsTer?) c.3077del (p.Cys1026SerfsTer?) | ClinVar |
| 8 | g.60852967G>A | CA371324515 | CHD7 | c.6242G>A (p.Cys2081Tyr) c.1717-9262G>A (n.1717-9262G>A) c.6332G>A (p.Cys2111Tyr) c.4319G>A (p.Cys1440Tyr) c.3869G>A (p.Cys1290Tyr) c.3077G>A (p.Cys1026Tyr) | |
| 8 | g.60852967G>C | CA371324516 | CHD7 | c.6242G>C (p.Cys2081Ser) c.1717-9262G>C (n.1717-9262G>C) c.6332G>C (p.Cys2111Ser) c.4319G>C (p.Cys1440Ser) c.3869G>C (p.Cys1290Ser) c.3077G>C (p.Cys1026Ser) | |
| 8 | g.60852967G>T | CA371324517 | CHD7 | c.6242G>T (p.Cys2081Phe) c.1717-9262G>T (n.1717-9262G>T) c.6332G>T (p.Cys2111Phe) c.4319G>T (p.Cys1440Phe) c.3869G>T (p.Cys1290Phe) c.3077G>T (p.Cys1026Phe) | |
| 8 | g.60852968C>A | CA10603119 | CHD7 | c.6243C>A (p.Cys2081Ter) c.1717-9261C>A (n.1717-9261C>A) c.6333C>A (p.Cys2111Ter) c.4320C>A (p.Cys1440Ter) c.3870C>A (p.Cys1290Ter) c.3078C>A (p.Cys1026Ter) | ClinVar dbSNP |
| 8 | g.60852968C= | CA1788103069 | CHD7 | c.6243C= (p.Cys2081=) c.1717-9261C= (n.1717-9261C=) c.6333C= (p.Cys2111=) c.4320C= (p.Cys1440=) c.3870C= (p.Cys1290=) c.3078C= (p.Cys1026=) | |
| 8 | g.60852968C>G | CA371324518 | CHD7 | c.6243C>G (p.Cys2081Trp) c.1717-9261C>G (n.1717-9261C>G) c.6333C>G (p.Cys2111Trp) c.4320C>G (p.Cys1440Trp) c.3870C>G (p.Cys1290Trp) c.3078C>G (p.Cys1026Trp) | |
| 8 | g.60852968C>T | CA461105139 | CHD7 | c.6243C>T (p.Cys2081=) c.1717-9261C>T (n.1717-9261C>T) c.6333C>T (p.Cys2111=) c.4320C>T (p.Cys1440=) c.3870C>T (p.Cys1290=) c.3078C>T (p.Cys1026=) | |
| 8 | g.60852969C>A | CA371324519 | CHD7 | c.6244C>A (p.Gln2082Lys) c.1717-9260C>A (n.1717-9260C>A) c.6334C>A (p.Gln2112Lys) c.4321C>A (p.Gln1441Lys) c.3871C>A (p.Gln1291Lys) c.3079C>A (p.Gln1027Lys) | |
| 8 | g.60852969C>G | CA371324522 | CHD7 | c.6244C>G (p.Gln2082Glu) c.1717-9260C>G (n.1717-9260C>G) c.6334C>G (p.Gln2112Glu) c.4321C>G (p.Gln1441Glu) c.3871C>G (p.Gln1291Glu) c.3079C>G (p.Gln1027Glu) | |
| 8 | g.60852969C>T | CA371324520 | CHD7 | c.6244C>T (p.Gln2082Ter) c.1717-9260C>T (n.1717-9260C>T) c.6334C>T (p.Gln2112Ter) c.4321C>T (p.Gln1441Ter) c.3871C>T (p.Gln1291Ter) c.3079C>T (p.Gln1027Ter) | |
| 8 | g.60852970A>C | CA371324524 | CHD7 | c.6245A>C (p.Gln2082Pro) c.1717-9259A>C (n.1717-9259A>C) c.6335A>C (p.Gln2112Pro) c.4322A>C (p.Gln1441Pro) c.3872A>C (p.Gln1291Pro) c.3080A>C (p.Gln1027Pro) | |
| 8 | g.60852970A>G | CA371324525 | CHD7 | c.6245A>G (p.Gln2082Arg) c.1717-9259A>G (n.1717-9259A>G) c.6335A>G (p.Gln2112Arg) c.4322A>G (p.Gln1441Arg) c.3872A>G (p.Gln1291Arg) c.3080A>G (p.Gln1027Arg) | |
| 8 | g.60852970A>T | CA371324526 | CHD7 | c.6245A>T (p.Gln2082Leu) c.1717-9259A>T (n.1717-9259A>T) c.6335A>T (p.Gln2112Leu) c.4322A>T (p.Gln1441Leu) c.3872A>T (p.Gln1291Leu) c.3080A>T (p.Gln1027Leu) | |
| 8 | g.60852971G>A | CA461105141 | CHD7 | c.6246G>A (p.Gln2082=) c.1717-9258G>A (n.1717-9258G>A) c.6336G>A (p.Gln2112=) c.4323G>A (p.Gln1441=) c.3873G>A (p.Gln1291=) c.3081G>A (p.Gln1027=) | |
| 8 | g.60852971G>C | CA371324528 | CHD7 | c.6246G>C (p.Gln2082His) c.1717-9258G>C (n.1717-9258G>C) c.6336G>C (p.Gln2112His) c.4323G>C (p.Gln1441His) c.3873G>C (p.Gln1291His) c.3081G>C (p.Gln1027His) | |
| 8 | g.60852971G>T | CA371324529 | CHD7 | c.6246G>T (p.Gln2082His) c.1717-9258G>T (n.1717-9258G>T) c.6336G>T (p.Gln2112His) c.4323G>T (p.Gln1441His) c.3873G>T (p.Gln1291His) c.3081G>T (p.Gln1027His) | |
| 8 | g.60852971_60852972insAT | CA2579173705 | CHD7 | c.6246_6247insAT (p.Pro2083IlefsTer?) c.1717-9258_1717-9257insAT (n.1717-9258_1717-9257insAT) c.6336_6337insAT (p.Pro2113IlefsTer?) c.4323_4324insAT (p.Pro1442IlefsTer?) c.3873_3874insAT (p.Pro1292IlefsTer?) c.3081_3082insAT (p.Pro1028IlefsTer?) | |
| 8 | g.60852972C>A | CA371324530 | CHD7 | c.6247C>A (p.Pro2083Thr) c.1717-9257C>A (n.1717-9257C>A) c.6337C>A (p.Pro2113Thr) c.4324C>A (p.Pro1442Thr) c.3874C>A (p.Pro1292Thr) c.3082C>A (p.Pro1028Thr) | |
| 8 | g.60852972C= | CA1788103081 | CHD7 | c.6247C= (p.Pro2083=) c.1717-9257C= (n.1717-9257C=) c.6337C= (p.Pro2113=) c.4324C= (p.Pro1442=) c.3874C= (p.Pro1292=) c.3082C= (p.Pro1028=) | |
| 8 | g.60852972C>G | CA371324531 | CHD7 | c.6247C>G (p.Pro2083Ala) c.1717-9257C>G (n.1717-9257C>G) c.6337C>G (p.Pro2113Ala) c.4324C>G (p.Pro1442Ala) c.3874C>G (p.Pro1292Ala) c.3082C>G (p.Pro1028Ala) | |
| 8 | g.60852972C>T | CA4760557 | CHD7 | c.6247C>T (p.Pro2083Ser) c.1717-9257C>T (n.1717-9257C>T) c.6337C>T (p.Pro2113Ser) c.4324C>T (p.Pro1442Ser) c.3874C>T (p.Pro1292Ser) c.3082C>T (p.Pro1028Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852973C>A | CA371324534 | CHD7 | c.6248C>A (p.Pro2083Gln) c.1717-9256C>A (n.1717-9256C>A) c.6338C>A (p.Pro2113Gln) c.4325C>A (p.Pro1442Gln) c.3875C>A (p.Pro1292Gln) c.3083C>A (p.Pro1028Gln) | |
| 8 | g.60852973C= | CA1788103098 | CHD7 | c.6248C= (p.Pro2083=) c.1717-9256C= (n.1717-9256C=) c.6338C= (p.Pro2113=) c.4325C= (p.Pro1442=) c.3875C= (p.Pro1292=) c.3083C= (p.Pro1028=) | |
| 8 | g.60852973C>G | CA371324536 | CHD7 | c.6248C>G (p.Pro2083Arg) c.1717-9256C>G (n.1717-9256C>G) c.6338C>G (p.Pro2113Arg) c.4325C>G (p.Pro1442Arg) c.3875C>G (p.Pro1292Arg) c.3083C>G (p.Pro1028Arg) | |
| 8 | g.60852973C>T | CA4760558 | CHD7 | c.6248C>T (p.Pro2083Leu) c.1717-9256C>T (n.1717-9256C>T) c.6338C>T (p.Pro2113Leu) c.4325C>T (p.Pro1442Leu) c.3875C>T (p.Pro1292Leu) c.3083C>T (p.Pro1028Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852974A>C | CA461105144 | CHD7 | c.6249A>C (p.Pro2083=) c.1717-9255A>C (n.1717-9255A>C) c.6339A>C (p.Pro2113=) c.4326A>C (p.Pro1442=) c.3876A>C (p.Pro1292=) c.3084A>C (p.Pro1028=) | |
| 8 | g.60852974A>G | CA461105145 | CHD7 | c.6249A>G (p.Pro2083=) c.1717-9255A>G (n.1717-9255A>G) c.6339A>G (p.Pro2113=) c.4326A>G (p.Pro1442=) c.3876A>G (p.Pro1292=) c.3084A>G (p.Pro1028=) | gnomAD v4 |
| 8 | g.60852974A>T | CA461105146 | CHD7 | c.6249A>T (p.Pro2083=) c.1717-9255A>T (n.1717-9255A>T) c.6339A>T (p.Pro2113=) c.4326A>T (p.Pro1442=) c.3876A>T (p.Pro1292=) c.3084A>T (p.Pro1028=) | |
| 8 | g.60852975A= | CA1788103117 | CHD7 | c.6250A= (p.Ser2084=) c.1717-9254A= (n.1717-9254A=) c.6340A= (p.Ser2114=) c.4327A= (p.Ser1443=) c.3877A= (p.Ser1293=) c.3085A= (p.Ser1029=) | |
| 8 | g.60852975A>C | CA371324542 | CHD7 | c.6250A>C (p.Ser2084Arg) c.1717-9254A>C (n.1717-9254A>C) c.6340A>C (p.Ser2114Arg) c.4327A>C (p.Ser1443Arg) c.3877A>C (p.Ser1293Arg) c.3085A>C (p.Ser1029Arg) | |
| 8 | g.60852975A>G | CA271325 | CHD7 | c.6250A>G (p.Ser2084Gly) c.1717-9254A>G (n.1717-9254A>G) c.6340A>G (p.Ser2114Gly) c.4327A>G (p.Ser1443Gly) c.3877A>G (p.Ser1293Gly) c.3085A>G (p.Ser1029Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852975A>T | CA371324539 | CHD7 | c.6250A>T (p.Ser2084Cys) c.1717-9254A>T (n.1717-9254A>T) c.6340A>T (p.Ser2114Cys) c.4327A>T (p.Ser1443Cys) c.3877A>T (p.Ser1293Cys) c.3085A>T (p.Ser1029Cys) | |
| 8 | g.60852976G>A | CA177354058 | CHD7 | c.6251G>A (p.Ser2084Asn) c.1717-9253G>A (n.1717-9253G>A) c.6341G>A (p.Ser2114Asn) c.4328G>A (p.Ser1443Asn) c.3878G>A (p.Ser1293Asn) c.3086G>A (p.Ser1029Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852976G>C | CA371324543 | CHD7 | c.6251G>C (p.Ser2084Thr) c.1717-9253G>C (n.1717-9253G>C) c.6341G>C (p.Ser2114Thr) c.4328G>C (p.Ser1443Thr) c.3878G>C (p.Ser1293Thr) c.3086G>C (p.Ser1029Thr) | |
| 8 | g.60852976G= | CA1788103139 | CHD7 | c.6251G= (p.Ser2084=) c.1717-9253G= (n.1717-9253G=) c.6341G= (p.Ser2114=) c.4328G= (p.Ser1443=) c.3878G= (p.Ser1293=) c.3086G= (p.Ser1029=) | |
| 8 | g.60852976G>T | CA371324544 | CHD7 | c.6251G>T (p.Ser2084Ile) c.1717-9253G>T (n.1717-9253G>T) c.6341G>T (p.Ser2114Ile) c.4328G>T (p.Ser1443Ile) c.3878G>T (p.Ser1293Ile) c.3086G>T (p.Ser1029Ile) | |
| 8 | g.60852977C>A | CA371324546 | CHD7 | c.6252C>A (p.Ser2084Arg) c.1717-9252C>A (n.1717-9252C>A) c.6342C>A (p.Ser2114Arg) c.4329C>A (p.Ser1443Arg) c.3879C>A (p.Ser1293Arg) c.3087C>A (p.Ser1029Arg) | |
| 8 | g.60852977C>G | CA371324547 | CHD7 | c.6252C>G (p.Ser2084Arg) c.1717-9252C>G (n.1717-9252C>G) c.6342C>G (p.Ser2114Arg) c.4329C>G (p.Ser1443Arg) c.3879C>G (p.Ser1293Arg) c.3087C>G (p.Ser1029Arg) | gnomAD v4 |
| 8 | g.60852977C>T | CA461105148 | CHD7 | c.6252C>T (p.Ser2084=) c.1717-9252C>T (n.1717-9252C>T) c.6342C>T (p.Ser2114=) c.4329C>T (p.Ser1443=) c.3879C>T (p.Ser1293=) c.3087C>T (p.Ser1029=) | |
| 8 | g.60852978T>A | CA371324549 | CHD7 | c.6253T>A (p.Leu2085Met) c.1717-9251T>A (n.1717-9251T>A) c.6343T>A (p.Leu2115Met) c.4330T>A (p.Leu1444Met) c.3880T>A (p.Leu1294Met) c.3088T>A (p.Leu1030Met) | |
| 8 | g.60852978T>C | CA461105149 | CHD7 | c.6253T>C (p.Leu2085=) c.1717-9251T>C (n.1717-9251T>C) c.6343T>C (p.Leu2115=) c.4330T>C (p.Leu1444=) c.3880T>C (p.Leu1294=) c.3088T>C (p.Leu1030=) | |
| 8 | g.60852978T>G | CA371324554 | CHD7 | c.6253T>G (p.Leu2085Val) c.1717-9251T>G (n.1717-9251T>G) c.6343T>G (p.Leu2115Val) c.4330T>G (p.Leu1444Val) c.3880T>G (p.Leu1294Val) c.3088T>G (p.Leu1030Val) | gnomAD v4 |
| 8 | g.60852979T>A | CA371324556 | CHD7 | c.6254T>A (p.Leu2085Ter) c.1717-9250T>A (n.1717-9250T>A) c.6344T>A (p.Leu2115Ter) c.4331T>A (p.Leu1444Ter) c.3881T>A (p.Leu1294Ter) c.3089T>A (p.Leu1030Ter) | |
| 8 | g.60852979T>C | CA371324557 | CHD7 | c.6254T>C (p.Leu2085Ser) c.1717-9250T>C (n.1717-9250T>C) c.6344T>C (p.Leu2115Ser) c.4331T>C (p.Leu1444Ser) c.3881T>C (p.Leu1294Ser) c.3089T>C (p.Leu1030Ser) | |
| 8 | g.60852979T>G | CA371324558 | CHD7 | c.6254T>G (p.Leu2085Trp) c.1717-9250T>G (n.1717-9250T>G) c.6344T>G (p.Leu2115Trp) c.4331T>G (p.Leu1444Trp) c.3881T>G (p.Leu1294Trp) c.3089T>G (p.Leu1030Trp) | |
| 8 | g.60852980G>A | CA461105150 | CHD7 | c.6255G>A (p.Leu2085=) c.1717-9249G>A (n.1717-9249G>A) c.6345G>A (p.Leu2115=) c.4332G>A (p.Leu1444=) c.3882G>A (p.Leu1294=) c.3090G>A (p.Leu1030=) | |
| 8 | g.60852980G>C | CA371324560 | CHD7 | c.6255G>C (p.Leu2085Phe) c.1717-9249G>C (n.1717-9249G>C) c.6345G>C (p.Leu2115Phe) c.4332G>C (p.Leu1444Phe) c.3882G>C (p.Leu1294Phe) c.3090G>C (p.Leu1030Phe) | |
| 8 | g.60852980G= | CA1788103144 | CHD7 | c.6255G= (p.Leu2085=) c.1717-9249G= (n.1717-9249G=) c.6345G= (p.Leu2115=) c.4332G= (p.Leu1444=) c.3882G= (p.Leu1294=) c.3090G= (p.Leu1030=) | |
| 8 | g.60852980G>T | CA4760559 | CHD7 | c.6255G>T (p.Leu2085Phe) c.1717-9249G>T (n.1717-9249G>T) c.6345G>T (p.Leu2115Phe) c.4332G>T (p.Leu1444Phe) c.3882G>T (p.Leu1294Phe) c.3090G>T (p.Leu1030Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852981G>A | CA371324565 | CHD7 | c.6256G>A (p.Asp2086Asn) c.1717-9248G>A (n.1717-9248G>A) c.6346G>A (p.Asp2116Asn) c.4333G>A (p.Asp1445Asn) c.3883G>A (p.Asp1295Asn) c.3091G>A (p.Asp1031Asn) | |
| 8 | g.60852981G>C | CA371324563 | CHD7 | c.6256G>C (p.Asp2086His) c.1717-9248G>C (n.1717-9248G>C) c.6346G>C (p.Asp2116His) c.4333G>C (p.Asp1445His) c.3883G>C (p.Asp1295His) c.3091G>C (p.Asp1031His) | |
| 8 | g.60852981G>T | CA371324562 | CHD7 | c.6256G>T (p.Asp2086Tyr) c.1717-9248G>T (n.1717-9248G>T) c.6346G>T (p.Asp2116Tyr) c.4333G>T (p.Asp1445Tyr) c.3883G>T (p.Asp1295Tyr) c.3091G>T (p.Asp1031Tyr) | |
| 8 | g.60852982A= | CA1788103153 | CHD7 | c.6257A= (p.Asp2086=) c.1717-9247A= (n.1717-9247A=) c.6347A= (p.Asp2116=) c.4334A= (p.Asp1445=) c.3884A= (p.Asp1295=) c.3092A= (p.Asp1031=) | |
| 8 | g.60852982A>C | CA371324569 | CHD7 | c.6257A>C (p.Asp2086Ala) c.1717-9247A>C (n.1717-9247A>C) c.6347A>C (p.Asp2116Ala) c.4334A>C (p.Asp1445Ala) c.3884A>C (p.Asp1295Ala) c.3092A>C (p.Asp1031Ala) | |
| 8 | g.60852982A>G | CA371324567 | CHD7 | c.6257A>G (p.Asp2086Gly) c.1717-9247A>G (n.1717-9247A>G) c.6347A>G (p.Asp2116Gly) c.4334A>G (p.Asp1445Gly) c.3884A>G (p.Asp1295Gly) c.3092A>G (p.Asp1031Gly) | |
| 8 | g.60852982A>T | CA4760560 | CHD7 | c.6257A>T (p.Asp2086Val) c.1717-9247A>T (n.1717-9247A>T) c.6347A>T (p.Asp2116Val) c.4334A>T (p.Asp1445Val) c.3884A>T (p.Asp1295Val) c.3092A>T (p.Asp1031Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852982_60852983del | CA2579173707 | CHD7 | c.6257_6258del (p.Asp2086AlafsTer11) c.1717-9247_1717-9246del (n.1717-9247_1717-9246del) c.6347_6348del (p.Asp2116AlafsTer11) c.4334_4335del (p.Asp1445AlafsTer11) c.3884_3885del (p.Asp1295AlafsTer11) c.3092_3093del (p.Asp1031AlafsTer11) | |
| 8 | g.60852983T>A | CA371324571 | CHD7 | c.6258T>A (p.Asp2086Glu) c.1717-9246T>A (n.1717-9246T>A) c.6348T>A (p.Asp2116Glu) c.4335T>A (p.Asp1445Glu) c.3885T>A (p.Asp1295Glu) c.3093T>A (p.Asp1031Glu) | gnomAD v4 |
| 8 | g.60852983T>C | CA461105152 | CHD7 | c.6258T>C (p.Asp2086=) c.1717-9246T>C (n.1717-9246T>C) c.6348T>C (p.Asp2116=) c.4335T>C (p.Asp1445=) c.3885T>C (p.Asp1295=) c.3093T>C (p.Asp1031=) | |
| 8 | g.60852983T>G | CA371324573 | CHD7 | c.6258T>G (p.Asp2086Glu) c.1717-9246T>G (n.1717-9246T>G) c.6348T>G (p.Asp2116Glu) c.4335T>G (p.Asp1445Glu) c.3885T>G (p.Asp1295Glu) c.3093T>G (p.Asp1031Glu) | |
| 8 | g.60852984C>A | CA371324574 | CHD7 | c.6259C>A (p.Leu2087Met) c.1717-9245C>A (n.1717-9245C>A) c.6349C>A (p.Leu2117Met) c.4336C>A (p.Leu1446Met) c.3886C>A (p.Leu1296Met) c.3094C>A (p.Leu1032Met) | ClinVar gnomAD v4 |
| 8 | g.60852984C>G | CA371324576 | CHD7 | c.6259C>G (p.Leu2087Val) c.1717-9245C>G (n.1717-9245C>G) c.6349C>G (p.Leu2117Val) c.4336C>G (p.Leu1446Val) c.3886C>G (p.Leu1296Val) c.3094C>G (p.Leu1032Val) | |
| 8 | g.60852984C>T | CA461105153 | CHD7 | c.6259C>T (p.Leu2087=) c.1717-9245C>T (n.1717-9245C>T) c.6349C>T (p.Leu2117=) c.4336C>T (p.Leu1446=) c.3886C>T (p.Leu1296=) c.3094C>T (p.Leu1032=) | |
| 8 | g.60852985T>A | CA371324577 | CHD7 | c.6260T>A (p.Leu2087Gln) c.1717-9244T>A (n.1717-9244T>A) c.6350T>A (p.Leu2117Gln) c.4337T>A (p.Leu1446Gln) c.3887T>A (p.Leu1296Gln) c.3095T>A (p.Leu1032Gln) | |
| 8 | g.60852985T>C | CA371324578 | CHD7 | c.6260T>C (p.Leu2087Pro) c.1717-9244T>C (n.1717-9244T>C) c.6350T>C (p.Leu2117Pro) c.4337T>C (p.Leu1446Pro) c.3887T>C (p.Leu1296Pro) c.3095T>C (p.Leu1032Pro) | |
| 8 | g.60852985T>G | CA371324580 | CHD7 | c.6260T>G (p.Leu2087Arg) c.1717-9244T>G (n.1717-9244T>G) c.6350T>G (p.Leu2117Arg) c.4337T>G (p.Leu1446Arg) c.3887T>G (p.Leu1296Arg) c.3095T>G (p.Leu1032Arg) | |
| 8 | g.60852986G>A | CA4760561 | CHD7 | c.6261G>A (p.Leu2087=) c.1717-9243G>A (n.1717-9243G>A) c.6351G>A (p.Leu2117=) c.4338G>A (p.Leu1446=) c.3888G>A (p.Leu1296=) c.3096G>A (p.Leu1032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852986G>C | CA461105155 | CHD7 | c.6261G>C (p.Leu2087=) c.1717-9243G>C (n.1717-9243G>C) c.6351G>C (p.Leu2117=) c.4338G>C (p.Leu1446=) c.3888G>C (p.Leu1296=) c.3096G>C (p.Leu1032=) | COSMIC |
| 8 | g.60852986G= | CA1788103160 | CHD7 | c.6261G= (p.Leu2087=) c.1717-9243G= (n.1717-9243G=) c.6351G= (p.Leu2117=) c.4338G= (p.Leu1446=) c.3888G= (p.Leu1296=) c.3096G= (p.Leu1032=) | |
| 8 | g.60852986G>T | CA461105156 | CHD7 | c.6261G>T (p.Leu2087=) c.1717-9243G>T (n.1717-9243G>T) c.6351G>T (p.Leu2117=) c.4338G>T (p.Leu1446=) c.3888G>T (p.Leu1296=) c.3096G>T (p.Leu1032=) | |
| 8 | g.60852987C>A | CA371324581 | CHD7 | c.6262C>A (p.Pro2088Thr) c.1717-9242C>A (n.1717-9242C>A) c.6352C>A (p.Pro2118Thr) c.4339C>A (p.Pro1447Thr) c.3889C>A (p.Pro1297Thr) c.3097C>A (p.Pro1033Thr) | |
| 8 | g.60852987C>G | CA371324583 | CHD7 | c.6262C>G (p.Pro2088Ala) c.1717-9242C>G (n.1717-9242C>G) c.6352C>G (p.Pro2118Ala) c.4339C>G (p.Pro1447Ala) c.3889C>G (p.Pro1297Ala) c.3097C>G (p.Pro1033Ala) | |
| 8 | g.60852987C>T | CA371324584 | CHD7 | c.6262C>T (p.Pro2088Ser) c.1717-9242C>T (n.1717-9242C>T) c.6352C>T (p.Pro2118Ser) c.4339C>T (p.Pro1447Ser) c.3889C>T (p.Pro1297Ser) c.3097C>T (p.Pro1033Ser) | |
| 8 | g.60852988C>A | CA371324588 | CHD7 | c.6263C>A (p.Pro2088Gln) c.1717-9241C>A (n.1717-9241C>A) c.6353C>A (p.Pro2118Gln) c.4340C>A (p.Pro1447Gln) c.3890C>A (p.Pro1297Gln) c.3098C>A (p.Pro1033Gln) | |
| 8 | g.60852988C>G | CA371324585 | CHD7 | c.6263C>G (p.Pro2088Arg) c.1717-9241C>G (n.1717-9241C>G) c.6353C>G (p.Pro2118Arg) c.4340C>G (p.Pro1447Arg) c.3890C>G (p.Pro1297Arg) c.3098C>G (p.Pro1033Arg) | |
| 8 | g.60852988C>T | CA371324587 | CHD7 | c.6263C>T (p.Pro2088Leu) c.1717-9241C>T (n.1717-9241C>T) c.6353C>T (p.Pro2118Leu) c.4340C>T (p.Pro1447Leu) c.3890C>T (p.Pro1297Leu) c.3098C>T (p.Pro1033Leu) | |
| 8 | g.60852989A= | CA1788103164 | CHD7 | c.6264A= (p.Pro2088=) c.1717-9240A= (n.1717-9240A=) c.6354A= (p.Pro2118=) c.4341A= (p.Pro1447=) c.3891A= (p.Pro1297=) c.3099A= (p.Pro1033=) | |
| 8 | g.60852989A>C | CA461105158 | CHD7 | c.6264A>C (p.Pro2088=) c.1717-9240A>C (n.1717-9240A>C) c.6354A>C (p.Pro2118=) c.4341A>C (p.Pro1447=) c.3891A>C (p.Pro1297=) c.3099A>C (p.Pro1033=) | |
| 8 | g.60852989A>G | CA4760562 | CHD7 | c.6264A>G (p.Pro2088=) c.1717-9240A>G (n.1717-9240A>G) c.6354A>G (p.Pro2118=) c.4341A>G (p.Pro1447=) c.3891A>G (p.Pro1297=) c.3099A>G (p.Pro1033=) | dbSNP ExAC gnomAD v2 |
| 8 | g.60852989A>T | CA461105157 | CHD7 | c.6264A>T (p.Pro2088=) c.1717-9240A>T (n.1717-9240A>T) c.6354A>T (p.Pro2118=) c.4341A>T (p.Pro1447=) c.3891A>T (p.Pro1297=) c.3099A>T (p.Pro1033=) | |
| 8 | g.60852990G>A | CA371324592 | CHD7 | c.6265G>A (p.Glu2089Lys) c.1717-9239G>A (n.1717-9239G>A) c.6355G>A (p.Glu2119Lys) c.4342G>A (p.Glu1448Lys) c.3892G>A (p.Glu1298Lys) c.3100G>A (p.Glu1034Lys) | |
| 8 | g.60852990G>C | CA371324593 | CHD7 | c.6265G>C (p.Glu2089Gln) c.1717-9239G>C (n.1717-9239G>C) c.6355G>C (p.Glu2119Gln) c.4342G>C (p.Glu1448Gln) c.3892G>C (p.Glu1298Gln) c.3100G>C (p.Glu1034Gln) | |
| 8 | g.60852990G>T | CA371324594 | CHD7 | c.6265G>T (p.Glu2089Ter) c.1717-9239G>T (n.1717-9239G>T) c.6355G>T (p.Glu2119Ter) c.4342G>T (p.Glu1448Ter) c.3892G>T (p.Glu1298Ter) c.3100G>T (p.Glu1034Ter) | |
| 8 | g.60852991A>C | CA371324596 | CHD7 | c.6266A>C (p.Glu2089Ala) c.1717-9238A>C (n.1717-9238A>C) c.6356A>C (p.Glu2119Ala) c.4343A>C (p.Glu1448Ala) c.3893A>C (p.Glu1298Ala) c.3101A>C (p.Glu1034Ala) | |
| 8 | g.60852991A>G | CA371324597 | CHD7 | c.6266A>G (p.Glu2089Gly) c.1717-9238A>G (n.1717-9238A>G) c.6356A>G (p.Glu2119Gly) c.4343A>G (p.Glu1448Gly) c.3893A>G (p.Glu1298Gly) c.3101A>G (p.Glu1034Gly) | |
| 8 | g.60852991A>T | CA371324598 | CHD7 | c.6266A>T (p.Glu2089Val) c.1717-9238A>T (n.1717-9238A>T) c.6356A>T (p.Glu2119Val) c.4343A>T (p.Glu1448Val) c.3893A>T (p.Glu1298Val) c.3101A>T (p.Glu1034Val) | |
| 8 | g.60852992G>A | CA461105160 | CHD7 | c.6267G>A (p.Glu2089=) c.1717-9237G>A (n.1717-9237G>A) c.6357G>A (p.Glu2119=) c.4344G>A (p.Glu1448=) c.3894G>A (p.Glu1298=) c.3102G>A (p.Glu1034=) | |
| 8 | g.60852992G>C | CA371324599 | CHD7 | c.6267G>C (p.Glu2089Asp) c.1717-9237G>C (n.1717-9237G>C) c.6357G>C (p.Glu2119Asp) c.4344G>C (p.Glu1448Asp) c.3894G>C (p.Glu1298Asp) c.3102G>C (p.Glu1034Asp) | |
| 8 | g.60852992G>T | CA371324600 | CHD7 | c.6267G>T (p.Glu2089Asp) c.1717-9237G>T (n.1717-9237G>T) c.6357G>T (p.Glu2119Asp) c.4344G>T (p.Glu1448Asp) c.3894G>T (p.Glu1298Asp) c.3102G>T (p.Glu1034Asp) | |
| 8 | g.60852993T>A | CA371324602 | CHD7 | c.6268T>A (p.Trp2090Arg) c.1717-9236T>A (n.1717-9236T>A) c.6358T>A (p.Trp2120Arg) c.4345T>A (p.Trp1449Arg) c.3895T>A (p.Trp1299Arg) c.3103T>A (p.Trp1035Arg) | |
| 8 | g.60852993T>C | CA371324604 | CHD7 | c.6268T>C (p.Trp2090Arg) c.1717-9236T>C (n.1717-9236T>C) c.6358T>C (p.Trp2120Arg) c.4345T>C (p.Trp1449Arg) c.3895T>C (p.Trp1299Arg) c.3103T>C (p.Trp1035Arg) | |
| 8 | g.60852993T>G | CA371324605 | CHD7 | c.6268T>G (p.Trp2090Gly) c.1717-9236T>G (n.1717-9236T>G) c.6358T>G (p.Trp2120Gly) c.4345T>G (p.Trp1449Gly) c.3895T>G (p.Trp1299Gly) c.3103T>G (p.Trp1035Gly) | |
| 8 | g.60852993dup | CA2695209414 | CHD7 | c.6268dup (p.Trp2090LeufsTer8) c.1717-9236dup (n.1717-9236dup) c.6358dup (p.Trp2120LeufsTer8) c.4345dup (p.Trp1449LeufsTer8) c.3895dup (p.Trp1299LeufsTer8) c.3103dup (p.Trp1035LeufsTer8) | |
| 8 | g.60852994G>A | CA371324609 | CHD7 | c.6269G>A (p.Trp2090Ter) c.1717-9235G>A (n.1717-9235G>A) c.6359G>A (p.Trp2120Ter) c.4346G>A (p.Trp1449Ter) c.3896G>A (p.Trp1299Ter) c.3104G>A (p.Trp1035Ter) | |
| 8 | g.60852994G>C | CA371324610 | CHD7 | c.6269G>C (p.Trp2090Ser) c.1717-9235G>C (n.1717-9235G>C) c.6359G>C (p.Trp2120Ser) c.4346G>C (p.Trp1449Ser) c.3896G>C (p.Trp1299Ser) c.3104G>C (p.Trp1035Ser) | |
| 8 | g.60852994G>T | CA371324607 | CHD7 | c.6269G>T (p.Trp2090Leu) c.1717-9235G>T (n.1717-9235G>T) c.6359G>T (p.Trp2120Leu) c.4346G>T (p.Trp1449Leu) c.3896G>T (p.Trp1299Leu) c.3104G>T (p.Trp1035Leu) | |
| 8 | g.60852995G>A | CA371324611 | CHD7 | c.6270G>A (p.Trp2090Ter) c.1717-9234G>A (n.1717-9234G>A) c.6360G>A (p.Trp2120Ter) c.4347G>A (p.Trp1449Ter) c.3897G>A (p.Trp1299Ter) c.3105G>A (p.Trp1035Ter) | |
| 8 | g.60852995G>C | CA371324614 | CHD7 | c.6270G>C (p.Trp2090Cys) c.1717-9234G>C (n.1717-9234G>C) c.6360G>C (p.Trp2120Cys) c.4347G>C (p.Trp1449Cys) c.3897G>C (p.Trp1299Cys) c.3105G>C (p.Trp1035Cys) | |
| 8 | g.60852995G>T | CA371324612 | CHD7 | c.6270G>T (p.Trp2090Cys) c.1717-9234G>T (n.1717-9234G>T) c.6360G>T (p.Trp2120Cys) c.4347G>T (p.Trp1449Cys) c.3897G>T (p.Trp1299Cys) c.3105G>T (p.Trp1035Cys) | |
| 8 | g.60852996T>A | CA371324615 | CHD7 | c.6271T>A (p.Trp2091Arg) c.1717-9233T>A (n.1717-9233T>A) c.6361T>A (p.Trp2121Arg) c.4348T>A (p.Trp1450Arg) c.3898T>A (p.Trp1300Arg) c.3106T>A (p.Trp1036Arg) | |
| 8 | g.60852996T>C | CA371324621 | CHD7 | c.6271T>C (p.Trp2091Arg) c.1717-9233T>C (n.1717-9233T>C) c.6361T>C (p.Trp2121Arg) c.4348T>C (p.Trp1450Arg) c.3898T>C (p.Trp1300Arg) c.3106T>C (p.Trp1036Arg) | |
| 8 | g.60852996T>G | CA371324617 | CHD7 | c.6271T>G (p.Trp2091Gly) c.1717-9233T>G (n.1717-9233T>G) c.6361T>G (p.Trp2121Gly) c.4348T>G (p.Trp1450Gly) c.3898T>G (p.Trp1300Gly) c.3106T>G (p.Trp1036Gly) | |
| 8 | g.60852997G>A | CA371324623 | CHD7 | c.6272G>A (p.Trp2091Ter) c.1717-9232G>A (n.1717-9232G>A) c.6362G>A (p.Trp2121Ter) c.4349G>A (p.Trp1450Ter) c.3899G>A (p.Trp1300Ter) c.3107G>A (p.Trp1036Ter) | ClinVar dbSNP |
| 8 | g.60852997G>C | CA371324624 | CHD7 | c.6272G>C (p.Trp2091Ser) c.1717-9232G>C (n.1717-9232G>C) c.6362G>C (p.Trp2121Ser) c.4349G>C (p.Trp1450Ser) c.3899G>C (p.Trp1300Ser) c.3107G>C (p.Trp1036Ser) | |
| 8 | g.60852997G= | CA1788103168 | CHD7 | c.6272G= (p.Trp2091=) c.1717-9232G= (n.1717-9232G=) c.6362G= (p.Trp2121=) c.4349G= (p.Trp1450=) c.3899G= (p.Trp1300=) c.3107G= (p.Trp1036=) | |
| 8 | g.60852997G>T | CA371324625 | CHD7 | c.6272G>T (p.Trp2091Leu) c.1717-9232G>T (n.1717-9232G>T) c.6362G>T (p.Trp2121Leu) c.4349G>T (p.Trp1450Leu) c.3899G>T (p.Trp1300Leu) c.3107G>T (p.Trp1036Leu) | |
| 8 | g.60852998G>A | CA371324627 | CHD7 | c.6273G>A (p.Trp2091Ter) c.1717-9231G>A (n.1717-9231G>A) c.6363G>A (p.Trp2121Ter) c.4350G>A (p.Trp1450Ter) c.3900G>A (p.Trp1300Ter) c.3108G>A (p.Trp1036Ter) | ClinVar |
| 8 | g.60852998G>C | CA371324628 | CHD7 | c.6273G>C (p.Trp2091Cys) c.1717-9231G>C (n.1717-9231G>C) c.6363G>C (p.Trp2121Cys) c.4350G>C (p.Trp1450Cys) c.3900G>C (p.Trp1300Cys) c.3108G>C (p.Trp1036Cys) | |
| 8 | g.60852998G>T | CA371324629 | CHD7 | c.6273G>T (p.Trp2091Cys) c.1717-9231G>T (n.1717-9231G>T) c.6363G>T (p.Trp2121Cys) c.4350G>T (p.Trp1450Cys) c.3900G>T (p.Trp1300Cys) c.3108G>T (p.Trp1036Cys) | ClinVar dbSNP |
| 8 | g.60852999G>A | CA371324631 | CHD7 | c.6274G>A (p.Glu2092Lys) c.1717-9230G>A (n.1717-9230G>A) c.6364G>A (p.Glu2122Lys) c.4351G>A (p.Glu1451Lys) c.3901G>A (p.Glu1301Lys) c.3109G>A (p.Glu1037Lys) | |
| 8 | g.60852999G>C | CA371324632 | CHD7 | c.6274G>C (p.Glu2092Gln) c.1717-9230G>C (n.1717-9230G>C) c.6364G>C (p.Glu2122Gln) c.4351G>C (p.Glu1451Gln) c.3901G>C (p.Glu1301Gln) c.3109G>C (p.Glu1037Gln) | gnomAD v4 |
| 8 | g.60852999G>T | CA371324634 | CHD7 | c.6274G>T (p.Glu2092Ter) c.1717-9230G>T (n.1717-9230G>T) c.6364G>T (p.Glu2122Ter) c.4351G>T (p.Glu1451Ter) c.3901G>T (p.Glu1301Ter) c.3109G>T (p.Glu1037Ter) | |
| 8 | g.60853000A= | CA1788103175 | CHD7 | c.6275A= (p.Glu2092=) c.1717-9229A= (n.1717-9229A=) c.6365A= (p.Glu2122=) c.4352A= (p.Glu1451=) c.3902A= (p.Glu1301=) c.3110A= (p.Glu1037=) | |
| 8 | g.60853000A>C | CA371324638 | CHD7 | c.6275A>C (p.Glu2092Ala) c.1717-9229A>C (n.1717-9229A>C) c.6365A>C (p.Glu2122Ala) c.4352A>C (p.Glu1451Ala) c.3902A>C (p.Glu1301Ala) c.3110A>C (p.Glu1037Ala) | |
| 8 | g.60853000A>G | CA371324637 | CHD7 | c.6275A>G (p.Glu2092Gly) c.1717-9229A>G (n.1717-9229A>G) c.6365A>G (p.Glu2122Gly) c.4352A>G (p.Glu1451Gly) c.3902A>G (p.Glu1301Gly) c.3110A>G (p.Glu1037Gly) | dbSNP |
| 8 | g.60853000A>T | CA371324635 | CHD7 | c.6275A>T (p.Glu2092Val) c.1717-9229A>T (n.1717-9229A>T) c.6365A>T (p.Glu2122Val) c.4352A>T (p.Glu1451Val) c.3902A>T (p.Glu1301Val) c.3110A>T (p.Glu1037Val) | |
| 8 | g.60853001G>A | CA148873 | CHD7 | c.6276G>A (p.Glu2092=) c.1717-9228G>A (n.1717-9228G>A) c.6366G>A (p.Glu2122=) c.4353G>A (p.Glu1451=) c.3903G>A (p.Glu1301=) c.3111G>A (p.Glu1037=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853001G>C | CA371324640 | CHD7 | c.6276G>C (p.Glu2092Asp) c.1717-9228G>C (n.1717-9228G>C) c.6366G>C (p.Glu2122Asp) c.4353G>C (p.Glu1451Asp) c.3903G>C (p.Glu1301Asp) c.3111G>C (p.Glu1037Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853001G= | CA1788103188 | CHD7 | c.6276G= (p.Glu2092=) c.1717-9228G= (n.1717-9228G=) c.6366G= (p.Glu2122=) c.4353G= (p.Glu1451=) c.3903G= (p.Glu1301=) c.3111G= (p.Glu1037=) | |
| 8 | g.60853001G>T | CA371324642 | CHD7 | c.6276G>T (p.Glu2092Asp) c.1717-9228G>T (n.1717-9228G>T) c.6366G>T (p.Glu2122Asp) c.4353G>T (p.Glu1451Asp) c.3903G>T (p.Glu1301Asp) c.3111G>T (p.Glu1037Asp) | |
| 8 | g.60853002T>A | CA371324644 | CHD7 | c.6277T>A (p.Cys2093Ser) c.1717-9227T>A (n.1717-9227T>A) c.6367T>A (p.Cys2123Ser) c.4354T>A (p.Cys1452Ser) c.3904T>A (p.Cys1302Ser) c.3112T>A (p.Cys1038Ser) | |
| 8 | g.60853002T>C | CA371324645 | CHD7 | c.6277T>C (p.Cys2093Arg) c.1717-9227T>C (n.1717-9227T>C) c.6367T>C (p.Cys2123Arg) c.4354T>C (p.Cys1452Arg) c.3904T>C (p.Cys1302Arg) c.3112T>C (p.Cys1038Arg) | |
| 8 | g.60853002T>G | CA371324649 | CHD7 | c.6277T>G (p.Cys2093Gly) c.1717-9227T>G (n.1717-9227T>G) c.6367T>G (p.Cys2123Gly) c.4354T>G (p.Cys1452Gly) c.3904T>G (p.Cys1302Gly) c.3112T>G (p.Cys1038Gly) | dbSNP |
| 8 | g.60853002T= | CA1788103197 | CHD7 | c.6277T= (p.Cys2093=) c.1717-9227T= (n.1717-9227T=) c.6367T= (p.Cys2123=) c.4354T= (p.Cys1452=) c.3904T= (p.Cys1302=) c.3112T= (p.Cys1038=) | |
| 8 | g.60853003G>A | CA4760563 | CHD7 | c.6278G>A (p.Cys2093Tyr) c.1717-9226G>A (n.1717-9226G>A) c.6368G>A (p.Cys2123Tyr) c.4355G>A (p.Cys1452Tyr) c.3905G>A (p.Cys1302Tyr) c.3113G>A (p.Cys1038Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853003G>C | CA371324651 | CHD7 | c.6278G>C (p.Cys2093Ser) c.1717-9226G>C (n.1717-9226G>C) c.6368G>C (p.Cys2123Ser) c.4355G>C (p.Cys1452Ser) c.3905G>C (p.Cys1302Ser) c.3113G>C (p.Cys1038Ser) | |
| 8 | g.60853003G= | CA1788103207 | CHD7 | c.6278G= (p.Cys2093=) c.1717-9226G= (n.1717-9226G=) c.6368G= (p.Cys2123=) c.4355G= (p.Cys1452=) c.3905G= (p.Cys1302=) c.3113G= (p.Cys1038=) | |
| 8 | g.60853003G>T | CA371324653 | CHD7 | c.6278G>T (p.Cys2093Phe) c.1717-9226G>T (n.1717-9226G>T) c.6368G>T (p.Cys2123Phe) c.4355G>T (p.Cys1452Phe) c.3905G>T (p.Cys1302Phe) c.3113G>T (p.Cys1038Phe) | |
| 8 | g.60853004T>A | CA371324654 | CHD7 | c.6279T>A (p.Cys2093Ter) c.1717-9225T>A (n.1717-9225T>A) c.6369T>A (p.Cys2123Ter) c.4356T>A (p.Cys1452Ter) c.3906T>A (p.Cys1302Ter) c.3114T>A (p.Cys1038Ter) | |
| 8 | g.60853004T>C | CA461105165 | CHD7 | c.6279T>C (p.Cys2093=) c.1717-9225T>C (n.1717-9225T>C) c.6369T>C (p.Cys2123=) c.4356T>C (p.Cys1452=) c.3906T>C (p.Cys1302=) c.3114T>C (p.Cys1038=) | |
| 8 | g.60853004T>G | CA371324655 | CHD7 | c.6279T>G (p.Cys2093Trp) c.1717-9225T>G (n.1717-9225T>G) c.6369T>G (p.Cys2123Trp) c.4356T>G (p.Cys1452Trp) c.3906T>G (p.Cys1302Trp) c.3114T>G (p.Cys1038Trp) | |
| 8 | g.60853005G>A | CA371324658 | CHD7 | c.6280G>A (p.Gly2094Arg) c.1717-9224G>A (n.1717-9224G>A) c.6370G>A (p.Gly2124Arg) c.4357G>A (p.Gly1453Arg) c.3907G>A (p.Gly1303Arg) c.3115G>A (p.Gly1039Arg) | |
| 8 | g.60853005G>C | CA371324659 | CHD7 | c.6280G>C (p.Gly2094Arg) c.1717-9224G>C (n.1717-9224G>C) c.6370G>C (p.Gly2124Arg) c.4357G>C (p.Gly1453Arg) c.3907G>C (p.Gly1303Arg) c.3115G>C (p.Gly1039Arg) | |
| 8 | g.60853005G>T | CA371324656 | CHD7 | c.6280G>T (p.Gly2094Ter) c.1717-9224G>T (n.1717-9224G>T) c.6370G>T (p.Gly2124Ter) c.4357G>T (p.Gly1453Ter) c.3907G>T (p.Gly1303Ter) c.3115G>T (p.Gly1039Ter) | |
| 8 | g.60853006G>A | CA371324660 | CHD7 | c.6281G>A (p.Gly2094Glu) c.1717-9223G>A (n.1717-9223G>A) c.6371G>A (p.Gly2124Glu) c.4358G>A (p.Gly1453Glu) c.3908G>A (p.Gly1303Glu) c.3116G>A (p.Gly1039Glu) | dbSNP |
| 8 | g.60853006G>C | CA371324662 | CHD7 | c.6281G>C (p.Gly2094Ala) c.1717-9223G>C (n.1717-9223G>C) c.6371G>C (p.Gly2124Ala) c.4358G>C (p.Gly1453Ala) c.3908G>C (p.Gly1303Ala) c.3116G>C (p.Gly1039Ala) | |
| 8 | g.60853006G>T | CA371324663 | CHD7 | c.6281G>T (p.Gly2094Val) c.1717-9223G>T (n.1717-9223G>T) c.6371G>T (p.Gly2124Val) c.4358G>T (p.Gly1453Val) c.3908G>T (p.Gly1303Val) c.3116G>T (p.Gly1039Val) | gnomAD v4 |
| 8 | g.60853006_60853007insTAA | CA2780535020 | CHD7 | c.6281_6282insTAA (p.Gly2094_Arg2095insLys) c.1717-9223_1717-9222insTAA (n.1717-9223_1717-9222insTAA) c.6371_6372insTAA (p.Gly2124_Arg2125insLys) c.4358_4359insTAA (p.Gly1453_Arg1454insLys) c.3908_3909insTAA (p.Gly1303_Arg1304insLys) c.3116_3117insTAA (p.Gly1039_Arg1040insLys) | |
| 8 | g.60853007A= | CA1788103236 | CHD7 | c.6282A= (p.Gly2094=) c.1717-9222A= (n.1717-9222A=) c.6372A= (p.Gly2124=) c.4359A= (p.Gly1453=) c.3909A= (p.Gly1303=) c.3117A= (p.Gly1039=) | |
| 8 | g.60853007A>C | CA461105166 | CHD7 | c.6282A>C (p.Gly2094=) c.1717-9222A>C (n.1717-9222A>C) c.6372A>C (p.Gly2124=) c.4359A>C (p.Gly1453=) c.3909A>C (p.Gly1303=) c.3117A>C (p.Gly1039=) | |
| 8 | g.60853007A>G | CA148876 | CHD7 | c.6282A>G (p.Gly2094=) c.1717-9222A>G (n.1717-9222A>G) c.6372A>G (p.Gly2124=) c.4359A>G (p.Gly1453=) c.3909A>G (p.Gly1303=) c.3117A>G (p.Gly1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853007A>T | CA461105167 | CHD7 | c.6282A>T (p.Gly2094=) c.1717-9222A>T (n.1717-9222A>T) c.6372A>T (p.Gly2124=) c.4359A>T (p.Gly1453=) c.3909A>T (p.Gly1303=) c.3117A>T (p.Gly1039=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60853008C>A | CA461105170 | CHD7 | c.6283C>A (p.Arg2095=) c.1717-9221C>A (n.1717-9221C>A) c.6373C>A (p.Arg2125=) c.4360C>A (p.Arg1454=) c.3910C>A (p.Arg1304=) c.3118C>A (p.Arg1040=) | |
| 8 | g.60853008C= | CA1788103244 | CHD7 | c.6283C= (p.Arg2095=) c.1717-9221C= (n.1717-9221C=) c.6373C= (p.Arg2125=) c.4360C= (p.Arg1454=) c.3910C= (p.Arg1304=) c.3118C= (p.Arg1040=) | |
| 8 | g.60853008C>G | CA371324665 | CHD7 | c.6283C>G (p.Arg2095Gly) c.1717-9221C>G (n.1717-9221C>G) c.6373C>G (p.Arg2125Gly) c.4360C>G (p.Arg1454Gly) c.3910C>G (p.Arg1304Gly) c.3118C>G (p.Arg1040Gly) | |
| 8 | g.60853008C>T | CA4760564 | CHD7 | c.6283C>T (p.Arg2095Trp) c.1717-9221C>T (n.1717-9221C>T) c.6373C>T (p.Arg2125Trp) c.4360C>T (p.Arg1454Trp) c.3910C>T (p.Arg1304Trp) c.3118C>T (p.Arg1040Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60853009_60853011del | CA2780535028 | CHD7 | c.6284_6286del (p.Arg2095del) c.1717-9220_1717-9218del (n.1717-9220_1717-9218del) c.6374_6376del (p.Arg2125del) c.4361_4363del (p.Arg1454del) c.3911_3913del (p.Arg1304del) c.3119_3121del (p.Arg1040del) | |
| 8 | g.60853009G>A | CA4760565 | CHD7 | c.6284G>A (p.Arg2095Gln) c.1717-9220G>A (n.1717-9220G>A) c.6374G>A (p.Arg2125Gln) c.4361G>A (p.Arg1454Gln) c.3911G>A (p.Arg1304Gln) c.3119G>A (p.Arg1040Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853009G>C | CA371324668 | CHD7 | c.6284G>C (p.Arg2095Pro) c.1717-9220G>C (n.1717-9220G>C) c.6374G>C (p.Arg2125Pro) c.4361G>C (p.Arg1454Pro) c.3911G>C (p.Arg1304Pro) c.3119G>C (p.Arg1040Pro) | |
| 8 | g.60853009G= | CA1788103251 | CHD7 | c.6284G= (p.Arg2095=) c.1717-9220G= (n.1717-9220G=) c.6374G= (p.Arg2125=) c.4361G= (p.Arg1454=) c.3911G= (p.Arg1304=) c.3119G= (p.Arg1040=) | |
| 8 | g.60853009G>T | CA371324670 | CHD7 | c.6284G>T (p.Arg2095Leu) c.1717-9220G>T (n.1717-9220G>T) c.6374G>T (p.Arg2125Leu) c.4361G>T (p.Arg1454Leu) c.3911G>T (p.Arg1304Leu) c.3119G>T (p.Arg1040Leu) | |
| 8 | g.60853010G>A | CA461105171 | CHD7 | c.6285G>A (p.Arg2095=) c.1717-9219G>A (n.1717-9219G>A) c.6375G>A (p.Arg2125=) c.4362G>A (p.Arg1454=) c.3912G>A (p.Arg1304=) c.3120G>A (p.Arg1040=) | gnomAD v4 |
| 8 | g.60853010G>C | CA461105173 | CHD7 | c.6285G>C (p.Arg2095=) c.1717-9219G>C (n.1717-9219G>C) c.6375G>C (p.Arg2125=) c.4362G>C (p.Arg1454=) c.3912G>C (p.Arg1304=) c.3120G>C (p.Arg1040=) | |
| 8 | g.60853010G= | CA1788103258 | CHD7 | c.6285G= (p.Arg2095=) c.1717-9219G= (n.1717-9219G=) c.6375G= (p.Arg2125=) c.4362G= (p.Arg1454=) c.3912G= (p.Arg1304=) c.3120G= (p.Arg1040=) | |
| 8 | g.60853010G>T | CA461105172 | CHD7 | c.6285G>T (p.Arg2095=) c.1717-9219G>T (n.1717-9219G>T) c.6375G>T (p.Arg2125=) c.4362G>T (p.Arg1454=) c.3912G>T (p.Arg1304=) c.3120G>T (p.Arg1040=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853011C>A | CA371324671 | CHD7 | c.6286C>A (p.His2096Asn) c.1717-9218C>A (n.1717-9218C>A) c.6376C>A (p.His2126Asn) c.4363C>A (p.His1455Asn) c.3913C>A (p.His1305Asn) c.3121C>A (p.His1041Asn) | |
| 8 | g.60853011C= | CA1788103261 | CHD7 | c.6286C= (p.His2096=) c.1717-9218C= (n.1717-9218C=) c.6376C= (p.His2126=) c.4363C= (p.His1455=) c.3913C= (p.His1305=) c.3121C= (p.His1041=) | |
| 8 | g.60853011C>G | CA371324673 | CHD7 | c.6286C>G (p.His2096Asp) c.1717-9218C>G (n.1717-9218C>G) c.6376C>G (p.His2126Asp) c.4363C>G (p.His1455Asp) c.3913C>G (p.His1305Asp) c.3121C>G (p.His1041Asp) | |
| 8 | g.60853011C>T | CA4760566 | CHD7 | c.6286C>T (p.His2096Tyr) c.1717-9218C>T (n.1717-9218C>T) c.6376C>T (p.His2126Tyr) c.4363C>T (p.His1455Tyr) c.3913C>T (p.His1305Tyr) c.3121C>T (p.His1041Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853012A= | CA1788103270 | CHD7 | c.6287A= (p.His2096=) c.1717-9217A= (n.1717-9217A=) c.6377A= (p.His2126=) c.4364A= (p.His1455=) c.3914A= (p.His1305=) c.3122A= (p.His1041=) | |
| 8 | g.60853012A>C | CA371324675 | CHD7 | c.6287A>C (p.His2096Pro) c.1717-9217A>C (n.1717-9217A>C) c.6377A>C (p.His2126Pro) c.4364A>C (p.His1455Pro) c.3914A>C (p.His1305Pro) c.3122A>C (p.His1041Pro) | |
| 8 | g.60853012A>G | CA271328 | CHD7 | c.6287A>G (p.His2096Arg) c.1717-9217A>G (n.1717-9217A>G) c.6377A>G (p.His2126Arg) c.4364A>G (p.His1455Arg) c.3914A>G (p.His1305Arg) c.3122A>G (p.His1041Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853012A>T | CA371324674 | CHD7 | c.6287A>T (p.His2096Leu) c.1717-9217A>T (n.1717-9217A>T) c.6377A>T (p.His2126Leu) c.4364A>T (p.His1455Leu) c.3914A>T (p.His1305Leu) c.3122A>T (p.His1041Leu) | COSMIC |
| 8 | g.60853013T>A | CA371324677 | CHD7 | c.6288T>A (p.His2096Gln) c.1717-9216T>A (n.1717-9216T>A) c.6378T>A (p.His2126Gln) c.4365T>A (p.His1455Gln) c.3915T>A (p.His1305Gln) c.3123T>A (p.His1041Gln) | |
| 8 | g.60853013T>C | CA461105176 | CHD7 | c.6288T>C (p.His2096=) c.1717-9216T>C (n.1717-9216T>C) c.6378T>C (p.His2126=) c.4365T>C (p.His1455=) c.3915T>C (p.His1305=) c.3123T>C (p.His1041=) | |
| 8 | g.60853013T>G | CA371324678 | CHD7 | c.6288T>G (p.His2096Gln) c.1717-9216T>G (n.1717-9216T>G) c.6378T>G (p.His2126Gln) c.4365T>G (p.His1455Gln) c.3915T>G (p.His1305Gln) c.3123T>G (p.His1041Gln) | |
| 8 | g.60853014G>A | CA371324680 | CHD7 | c.6289G>A (p.Asp2097Asn) c.1717-9215G>A (n.1717-9215G>A) c.6379G>A (p.Asp2127Asn) c.4366G>A (p.Asp1456Asn) c.3916G>A (p.Asp1306Asn) c.3124G>A (p.Asp1042Asn) | gnomAD v4 |
| 8 | g.60853014G>C | CA371324682 | CHD7 | c.6289G>C (p.Asp2097His) c.1717-9215G>C (n.1717-9215G>C) c.6379G>C (p.Asp2127His) c.4366G>C (p.Asp1456His) c.3916G>C (p.Asp1306His) c.3124G>C (p.Asp1042His) | |
| 8 | g.60853014G>T | CA371324685 | CHD7 | c.6289G>T (p.Asp2097Tyr) c.1717-9215G>T (n.1717-9215G>T) c.6379G>T (p.Asp2127Tyr) c.4366G>T (p.Asp1456Tyr) c.3916G>T (p.Asp1306Tyr) c.3124G>T (p.Asp1042Tyr) | |
| 8 | g.60853015A>C | CA371324687 | CHD7 | c.6290A>C (p.Asp2097Ala) c.1717-9214A>C (n.1717-9214A>C) c.6380A>C (p.Asp2127Ala) c.4367A>C (p.Asp1456Ala) c.3917A>C (p.Asp1306Ala) c.3125A>C (p.Asp1042Ala) | |
| 8 | g.60853015A>G | CA371324688 | CHD7 | c.6290A>G (p.Asp2097Gly) c.1717-9214A>G (n.1717-9214A>G) c.6380A>G (p.Asp2127Gly) c.4367A>G (p.Asp1456Gly) c.3917A>G (p.Asp1306Gly) c.3125A>G (p.Asp1042Gly) | |
| 8 | g.60853015A>T | CA371324690 | CHD7 | c.6290A>T (p.Asp2097Val) c.1717-9214A>T (n.1717-9214A>T) c.6380A>T (p.Asp2127Val) c.4367A>T (p.Asp1456Val) c.3917A>T (p.Asp1306Val) c.3125A>T (p.Asp1042Val) | |
| 8 | g.60853015_60853016delinsAC | CA1788103278 | CHD7 | c.6290_6291delinsAC (p.Asp2097=) c.1717-9214_1717-9213delinsAC (n.1717-9214_1717-9213delinsAC) c.6380_6381delinsAC (p.Asp2127=) c.4367_4368delinsAC (p.Asp1456=) c.3917_3918delinsAC (p.Asp1306=) c.3125_3126delinsAC (p.Asp1042=) | |
| 8 | g.60853016C>A | CA371324692 | CHD7 | c.6291C>A (p.Asp2097Glu) c.1717-9213C>A (n.1717-9213C>A) c.6381C>A (p.Asp2127Glu) c.4368C>A (p.Asp1456Glu) c.3918C>A (p.Asp1306Glu) c.3126C>A (p.Asp1042Glu) | |
| 8 | g.60853016C= | CA1788103318 | CHD7 | c.6291C= (p.Asp2097=) c.1717-9213C= (n.1717-9213C=) c.6381C= (p.Asp2127=) c.4368C= (p.Asp1456=) c.3918C= (p.Asp1306=) c.3126C= (p.Asp1042=) | |
| 8 | g.60853016C>G | CA371324693 | CHD7 | c.6291C>G (p.Asp2097Glu) c.1717-9213C>G (n.1717-9213C>G) c.6381C>G (p.Asp2127Glu) c.4368C>G (p.Asp1456Glu) c.3918C>G (p.Asp1306Glu) c.3126C>G (p.Asp1042Glu) | |
| 8 | g.60853016C>T | CA461105178 | CHD7 | c.6291C>T (p.Asp2097=) c.1717-9213C>T (n.1717-9213C>T) c.6381C>T (p.Asp2127=) c.4368C>T (p.Asp1456=) c.3918C>T (p.Asp1306=) c.3126C>T (p.Asp1042=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853017del | CA16609837 | CHD7 | c.6292del (p.Arg2098GlufsTer?) c.1717-9212del (n.1717-9212del) c.6382del (p.Arg2128GlufsTer?) c.4369del (p.Arg1457GlufsTer?) c.3919del (p.Arg1307GlufsTer?) c.3127del (p.Arg1043GlufsTer?) | ClinVar dbSNP |
| 8 | g.60853017C>A | CA461105179 | CHD7 | c.6292C>A (p.Arg2098=) c.1717-9212C>A (n.1717-9212C>A) c.6382C>A (p.Arg2128=) c.4369C>A (p.Arg1457=) c.3919C>A (p.Arg1307=) c.3127C>A (p.Arg1043=) | |
| 8 | g.60853017C= | CA1788103334 | CHD7 | c.6292C= (p.Arg2098=) c.1717-9212C= (n.1717-9212C=) c.6382C= (p.Arg2128=) c.4369C= (p.Arg1457=) c.3919C= (p.Arg1307=) c.3127C= (p.Arg1043=) | |
| 8 | g.60853017C>G | CA371324695 | CHD7 | c.6292C>G (p.Arg2098Gly) c.1717-9212C>G (n.1717-9212C>G) c.6382C>G (p.Arg2128Gly) c.4369C>G (p.Arg1457Gly) c.3919C>G (p.Arg1307Gly) c.3127C>G (p.Arg1043Gly) | |
| 8 | g.60853017C>T | CA10576249 | CHD7 | c.6292C>T (p.Arg2098Ter) c.1717-9212C>T (n.1717-9212C>T) c.6382C>T (p.Arg2128Ter) c.4369C>T (p.Arg1457Ter) c.3919C>T (p.Arg1307Ter) c.3127C>T (p.Arg1043Ter) | ClinVar dbSNP |
| 8 | g.60853018G>A | CA4760567 | CHD7 | c.6293G>A (p.Arg2098Gln) c.1717-9211G>A (n.1717-9211G>A) c.6383G>A (p.Arg2128Gln) c.4370G>A (p.Arg1457Gln) c.3920G>A (p.Arg1307Gln) c.3128G>A (p.Arg1043Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853018G>C | CA371324699 | CHD7 | c.6293G>C (p.Arg2098Pro) c.1717-9211G>C (n.1717-9211G>C) c.6383G>C (p.Arg2128Pro) c.4370G>C (p.Arg1457Pro) c.3920G>C (p.Arg1307Pro) c.3128G>C (p.Arg1043Pro) | |
| 8 | g.60853018G= | CA1788103343 | CHD7 | c.6293G= (p.Arg2098=) c.1717-9211G= (n.1717-9211G=) c.6383G= (p.Arg2128=) c.4370G= (p.Arg1457=) c.3920G= (p.Arg1307=) c.3128G= (p.Arg1043=) | |
| 8 | g.60853018G>T | CA371324698 | CHD7 | c.6293G>T (p.Arg2098Leu) c.1717-9211G>T (n.1717-9211G>T) c.6383G>T (p.Arg2128Leu) c.4370G>T (p.Arg1457Leu) c.3920G>T (p.Arg1307Leu) c.3128G>T (p.Arg1043Leu) | |
| 8 | g.60853019A>C | CA461105182 | CHD7 | c.6294A>C (p.Arg2098=) c.1717-9210A>C (n.1717-9210A>C) c.6384A>C (p.Arg2128=) c.4371A>C (p.Arg1457=) c.3921A>C (p.Arg1307=) c.3129A>C (p.Arg1043=) | gnomAD v4 |
| 8 | g.60853019A>G | CA461105183 | CHD7 | c.6294A>G (p.Arg2098=) c.1717-9210A>G (n.1717-9210A>G) c.6384A>G (p.Arg2128=) c.4371A>G (p.Arg1457=) c.3921A>G (p.Arg1307=) c.3129A>G (p.Arg1043=) | |
| 8 | g.60853019A>T | CA461105184 | CHD7 | c.6294A>T (p.Arg2098=) c.1717-9210A>T (n.1717-9210A>T) c.6384A>T (p.Arg2128=) c.4371A>T (p.Arg1457=) c.3921A>T (p.Arg1307=) c.3129A>T (p.Arg1043=) | |
| 8 | g.60853020G>A | CA371324705 | CHD7 | c.6295G>A (p.Asp2099Asn) c.1717-9209G>A (n.1717-9209G>A) c.6385G>A (p.Asp2129Asn) c.4372G>A (p.Asp1458Asn) c.3922G>A (p.Asp1308Asn) c.3130G>A (p.Asp1044Asn) | |
| 8 | g.60853020G>C | CA371324702 | CHD7 | c.6295G>C (p.Asp2099His) c.1717-9209G>C (n.1717-9209G>C) c.6385G>C (p.Asp2129His) c.4372G>C (p.Asp1458His) c.3922G>C (p.Asp1308His) c.3130G>C (p.Asp1044His) | |
| 8 | g.60853020G>T | CA371324704 | CHD7 | c.6295G>T (p.Asp2099Tyr) c.1717-9209G>T (n.1717-9209G>T) c.6385G>T (p.Asp2129Tyr) c.4372G>T (p.Asp1458Tyr) c.3922G>T (p.Asp1308Tyr) c.3130G>T (p.Asp1044Tyr) | |
| 8 | g.60853021A= | CA1788103354 | CHD7 | c.6296A= (p.Asp2099=) c.1717-9208A= (n.1717-9208A=) c.6386A= (p.Asp2129=) c.4373A= (p.Asp1458=) c.3923A= (p.Asp1308=) c.3131A= (p.Asp1044=) | |
| 8 | g.60853021A>C | CA371324706 | CHD7 | c.6296A>C (p.Asp2099Ala) c.1717-9208A>C (n.1717-9208A>C) c.6386A>C (p.Asp2129Ala) c.4373A>C (p.Asp1458Ala) c.3923A>C (p.Asp1308Ala) c.3131A>C (p.Asp1044Ala) | |
| 8 | g.60853021A>G | CA4760568 | CHD7 | c.6296A>G (p.Asp2099Gly) c.1717-9208A>G (n.1717-9208A>G) c.6386A>G (p.Asp2129Gly) c.4373A>G (p.Asp1458Gly) c.3923A>G (p.Asp1308Gly) c.3131A>G (p.Asp1044Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853021A>T | CA371324709 | CHD7 | c.6296A>T (p.Asp2099Val) c.1717-9208A>T (n.1717-9208A>T) c.6386A>T (p.Asp2129Val) c.4373A>T (p.Asp1458Val) c.3923A>T (p.Asp1308Val) c.3131A>T (p.Asp1044Val) | |
| 8 | g.60853022C>A | CA371324710 | CHD7 | c.6297C>A (p.Asp2099Glu) c.1717-9207C>A (n.1717-9207C>A) c.6387C>A (p.Asp2129Glu) c.4374C>A (p.Asp1458Glu) c.3924C>A (p.Asp1308Glu) c.3132C>A (p.Asp1044Glu) | |
| 8 | g.60853022C>G | CA371324712 | CHD7 | c.6297C>G (p.Asp2099Glu) c.1717-9207C>G (n.1717-9207C>G) c.6387C>G (p.Asp2129Glu) c.4374C>G (p.Asp1458Glu) c.3924C>G (p.Asp1308Glu) c.3132C>G (p.Asp1044Glu) | |
| 8 | g.60853022C>T | CA461105187 | CHD7 | c.6297C>T (p.Asp2099=) c.1717-9207C>T (n.1717-9207C>T) c.6387C>T (p.Asp2129=) c.4374C>T (p.Asp1458=) c.3924C>T (p.Asp1308=) c.3132C>T (p.Asp1044=) | |
| 8 | g.60853023T>A | CA371324713 | CHD7 | c.6298T>A (p.Leu2100Met) c.1717-9206T>A (n.1717-9206T>A) c.6388T>A (p.Leu2130Met) c.4375T>A (p.Leu1459Met) c.3925T>A (p.Leu1309Met) c.3133T>A (p.Leu1045Met) | |
| 8 | g.60853023T>C | CA461105189 | CHD7 | c.6298T>C (p.Leu2100=) c.1717-9206T>C (n.1717-9206T>C) c.6388T>C (p.Leu2130=) c.4375T>C (p.Leu1459=) c.3925T>C (p.Leu1309=) c.3133T>C (p.Leu1045=) | |
| 8 | g.60853023T>G | CA371324715 | CHD7 | c.6298T>G (p.Leu2100Val) c.1717-9206T>G (n.1717-9206T>G) c.6388T>G (p.Leu2130Val) c.4375T>G (p.Leu1459Val) c.3925T>G (p.Leu1309Val) c.3133T>G (p.Leu1045Val) | |
| 8 | g.60853024T>A | CA371324716 | CHD7 | c.6299T>A (p.Leu2100Ter) c.1717-9205T>A (n.1717-9205T>A) c.6389T>A (p.Leu2130Ter) c.4376T>A (p.Leu1459Ter) c.3926T>A (p.Leu1309Ter) c.3134T>A (p.Leu1045Ter) | |
| 8 | g.60853024T>C | CA371324718 | CHD7 | c.6299T>C (p.Leu2100Ser) c.1717-9205T>C (n.1717-9205T>C) c.6389T>C (p.Leu2130Ser) c.4376T>C (p.Leu1459Ser) c.3926T>C (p.Leu1309Ser) c.3134T>C (p.Leu1045Ser) | |
| 8 | g.60853024T>G | CA371324719 | CHD7 | c.6299T>G (p.Leu2100Trp) c.1717-9205T>G (n.1717-9205T>G) c.6389T>G (p.Leu2130Trp) c.4376T>G (p.Leu1459Trp) c.3926T>G (p.Leu1309Trp) c.3134T>G (p.Leu1045Trp) | |
| 8 | g.60853025G>A | CA461105190 | CHD7 | c.6300G>A (p.Leu2100=) c.1717-9204G>A (n.1717-9204G>A) c.6390G>A (p.Leu2130=) c.4377G>A (p.Leu1459=) c.3927G>A (p.Leu1309=) c.3135G>A (p.Leu1045=) | |
| 8 | g.60853025G>C | CA371324721 | CHD7 | c.6300G>C (p.Leu2100Phe) c.1717-9204G>C (n.1717-9204G>C) c.6390G>C (p.Leu2130Phe) c.4377G>C (p.Leu1459Phe) c.3927G>C (p.Leu1309Phe) c.3135G>C (p.Leu1045Phe) | |
| 8 | g.60853025G>T | CA371324722 | CHD7 | c.6300G>T (p.Leu2100Phe) c.1717-9204G>T (n.1717-9204G>T) c.6390G>T (p.Leu2130Phe) c.4377G>T (p.Leu1459Phe) c.3927G>T (p.Leu1309Phe) c.3135G>T (p.Leu1045Phe) | |
| 8 | g.60853026C>A | CA371324724 | CHD7 | c.6301C>A (p.Leu2101Met) c.1717-9203C>A (n.1717-9203C>A) c.6391C>A (p.Leu2131Met) c.4378C>A (p.Leu1460Met) c.3928C>A (p.Leu1310Met) c.3136C>A (p.Leu1046Met) | |
| 8 | g.60853026C>G | CA371324725 | CHD7 | c.6301C>G (p.Leu2101Val) c.1717-9203C>G (n.1717-9203C>G) c.6391C>G (p.Leu2131Val) c.4378C>G (p.Leu1460Val) c.3928C>G (p.Leu1310Val) c.3136C>G (p.Leu1046Val) | gnomAD v4 |
| 8 | g.60853026C>T | CA461105193 | CHD7 | c.6301C>T (p.Leu2101=) c.1717-9203C>T (n.1717-9203C>T) c.6391C>T (p.Leu2131=) c.4378C>T (p.Leu1460=) c.3928C>T (p.Leu1310=) c.3136C>T (p.Leu1046=) | |
| 8 | g.60853027T>A | CA371324727 | CHD7 | c.6302T>A (p.Leu2101Gln) c.1717-9202T>A (n.1717-9202T>A) c.6392T>A (p.Leu2131Gln) c.4379T>A (p.Leu1460Gln) c.3929T>A (p.Leu1310Gln) c.3137T>A (p.Leu1046Gln) | |
| 8 | g.60853027T>C | CA371324728 | CHD7 | c.6302T>C (p.Leu2101Pro) c.1717-9202T>C (n.1717-9202T>C) c.6392T>C (p.Leu2131Pro) c.4379T>C (p.Leu1460Pro) c.3929T>C (p.Leu1310Pro) c.3137T>C (p.Leu1046Pro) | ClinVar dbSNP |
| 8 | g.60853027T>G | CA371324730 | CHD7 | c.6302T>G (p.Leu2101Arg) c.1717-9202T>G (n.1717-9202T>G) c.6392T>G (p.Leu2131Arg) c.4379T>G (p.Leu1460Arg) c.3929T>G (p.Leu1310Arg) c.3137T>G (p.Leu1046Arg) | |
| 8 | g.60853027T= | CA1788103367 | CHD7 | c.6302T= (p.Leu2101=) c.1717-9202T= (n.1717-9202T=) c.6392T= (p.Leu2131=) c.4379T= (p.Leu1460=) c.3929T= (p.Leu1310=) c.3137T= (p.Leu1046=) | |
| 8 | g.60853028_60853030dup | CA2780535036 | CHD7 | c.6303_6305dup (p.Val2102_Gly2103insVal) c.1717-9201_1717-9199dup (n.1717-9201_1717-9199dup) c.6393_6395dup (p.Val2132_Gly2133insVal) c.4380_4382dup (p.Val1461_Gly1462insVal) c.3930_3932dup (p.Val1311_Gly1312insVal) c.3138_3140dup (p.Val1047_Gly1048insVal) | |
| 8 | g.60853028G>A | CA461105194 | CHD7 | c.6303G>A (p.Leu2101=) c.1717-9201G>A (n.1717-9201G>A) c.6393G>A (p.Leu2131=) c.4380G>A (p.Leu1460=) c.3930G>A (p.Leu1310=) c.3138G>A (p.Leu1046=) | gnomAD v4 |
| 8 | g.60853028G>C | CA461105195 | CHD7 | c.6303G>C (p.Leu2101=) c.1717-9201G>C (n.1717-9201G>C) c.6393G>C (p.Leu2131=) c.4380G>C (p.Leu1460=) c.3930G>C (p.Leu1310=) c.3138G>C (p.Leu1046=) | |
| 8 | g.60853028G>T | CA461105197 | CHD7 | c.6303G>T (p.Leu2101=) c.1717-9201G>T (n.1717-9201G>T) c.6393G>T (p.Leu2131=) c.4380G>T (p.Leu1460=) c.3930G>T (p.Leu1310=) c.3138G>T (p.Leu1046=) | gnomAD v4 |
| 8 | g.60853029del | CA2695209415 | CHD7 | c.6304del (p.Val2102LeufsTer?) c.1717-9200del (n.1717-9200del) c.6394del (p.Val2132LeufsTer?) c.4381del (p.Val1461LeufsTer?) c.3931del (p.Val1311LeufsTer?) c.3139del (p.Val1047LeufsTer?) | |
| 8 | g.60853029G>A | CA371324731 | CHD7 | c.6304G>A (p.Val2102Ile) c.1717-9200G>A (n.1717-9200G>A) c.6394G>A (p.Val2132Ile) c.4381G>A (p.Val1461Ile) c.3931G>A (p.Val1311Ile) c.3139G>A (p.Val1047Ile) | |
| 8 | g.60853029G>C | CA371324733 | CHD7 | c.6304G>C (p.Val2102Leu) c.1717-9200G>C (n.1717-9200G>C) c.6394G>C (p.Val2132Leu) c.4381G>C (p.Val1461Leu) c.3931G>C (p.Val1311Leu) c.3139G>C (p.Val1047Leu) | |
| 8 | g.60853029G= | CA1788103390 | CHD7 | c.6304G= (p.Val2102=) c.1717-9200G= (n.1717-9200G=) c.6394G= (p.Val2132=) c.4381G= (p.Val1461=) c.3931G= (p.Val1311=) c.3139G= (p.Val1047=) | |
| 8 | g.60853029G>T | CA4760569 | CHD7 | c.6304G>T (p.Val2102Phe) c.1717-9200G>T (n.1717-9200G>T) c.6394G>T (p.Val2132Phe) c.4381G>T (p.Val1461Phe) c.3931G>T (p.Val1311Phe) c.3139G>T (p.Val1047Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853030T>A | CA371324735 | CHD7 | c.6305T>A (p.Val2102Asp) c.1717-9199T>A (n.1717-9199T>A) c.6395T>A (p.Val2132Asp) c.4382T>A (p.Val1461Asp) c.3932T>A (p.Val1311Asp) c.3140T>A (p.Val1047Asp) | |
| 8 | g.60853030T>C | CA371324737 | CHD7 | c.6305T>C (p.Val2102Ala) c.1717-9199T>C (n.1717-9199T>C) c.6395T>C (p.Val2132Ala) c.4382T>C (p.Val1461Ala) c.3932T>C (p.Val1311Ala) c.3140T>C (p.Val1047Ala) | |
| 8 | g.60853030T>G | CA177354076 | CHD7 | c.6305T>G (p.Val2102Gly) c.1717-9199T>G (n.1717-9199T>G) c.6395T>G (p.Val2132Gly) c.4382T>G (p.Val1461Gly) c.3932T>G (p.Val1311Gly) c.3140T>G (p.Val1047Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853030T= | CA1788103397 | CHD7 | c.6305T= (p.Val2102=) c.1717-9199T= (n.1717-9199T=) c.6395T= (p.Val2132=) c.4382T= (p.Val1461=) c.3932T= (p.Val1311=) c.3140T= (p.Val1047=) | |
| 8 | g.60853031T>A | CA461105201 | CHD7 | c.6306T>A (p.Val2102=) c.1717-9198T>A (n.1717-9198T>A) c.6396T>A (p.Val2132=) c.4383T>A (p.Val1461=) c.3933T>A (p.Val1311=) c.3141T>A (p.Val1047=) | |
| 8 | g.60853031T>C | CA461105199 | CHD7 | c.6306T>C (p.Val2102=) c.1717-9198T>C (n.1717-9198T>C) c.6396T>C (p.Val2132=) c.4383T>C (p.Val1461=) c.3933T>C (p.Val1311=) c.3141T>C (p.Val1047=) | |
| 8 | g.60853031T>G | CA461105198 | CHD7 | c.6306T>G (p.Val2102=) c.1717-9198T>G (n.1717-9198T>G) c.6396T>G (p.Val2132=) c.4383T>G (p.Val1461=) c.3933T>G (p.Val1311=) c.3141T>G (p.Val1047=) | |
| 8 | g.60853032G>A | CA371324739 | CHD7 | c.6307G>A (p.Gly2103Ser) c.1717-9197G>A (n.1717-9197G>A) c.6397G>A (p.Gly2133Ser) c.4384G>A (p.Gly1462Ser) c.3934G>A (p.Gly1312Ser) c.3142G>A (p.Gly1048Ser) | |
| 8 | g.60853032G>C | CA371324740 | CHD7 | c.6307G>C (p.Gly2103Arg) c.1717-9197G>C (n.1717-9197G>C) c.6397G>C (p.Gly2133Arg) c.4384G>C (p.Gly1462Arg) c.3934G>C (p.Gly1312Arg) c.3142G>C (p.Gly1048Arg) | |
| 8 | g.60853032G>T | CA371324742 | CHD7 | c.6307G>T (p.Gly2103Cys) c.1717-9197G>T (n.1717-9197G>T) c.6397G>T (p.Gly2133Cys) c.4384G>T (p.Gly1462Cys) c.3934G>T (p.Gly1312Cys) c.3142G>T (p.Gly1048Cys) | |
| 8 | g.60853033G>A | CA243786 | CHD7 | c.6308G>A (p.Gly2103Asp) c.1717-9196G>A (n.1717-9196G>A) c.6398G>A (p.Gly2133Asp) c.4385G>A (p.Gly1462Asp) c.3935G>A (p.Gly1312Asp) c.3143G>A (p.Gly1048Asp) | ClinVar dbSNP |
| 8 | g.60853033G>C | CA371324745 | CHD7 | c.6308G>C (p.Gly2103Ala) c.1717-9196G>C (n.1717-9196G>C) c.6398G>C (p.Gly2133Ala) c.4385G>C (p.Gly1462Ala) c.3935G>C (p.Gly1312Ala) c.3143G>C (p.Gly1048Ala) | |
| 8 | g.60853033G= | CA1788103405 | CHD7 | c.6308G= (p.Gly2103=) c.1717-9196G= (n.1717-9196G=) c.6398G= (p.Gly2133=) c.4385G= (p.Gly1462=) c.3935G= (p.Gly1312=) c.3143G= (p.Gly1048=) | |
| 8 | g.60853033G>T | CA371324744 | CHD7 | c.6308G>T (p.Gly2103Val) c.1717-9196G>T (n.1717-9196G>T) c.6398G>T (p.Gly2133Val) c.4385G>T (p.Gly1462Val) c.3935G>T (p.Gly1312Val) c.3143G>T (p.Gly1048Val) | |
| 8 | g.60853034T>A | CA461105202 | CHD7 | c.6309T>A (p.Gly2103=) c.1717-9195T>A (n.1717-9195T>A) c.6399T>A (p.Gly2133=) c.4386T>A (p.Gly1462=) c.3936T>A (p.Gly1312=) c.3144T>A (p.Gly1048=) | |
| 8 | g.60853034T>C | CA461105204 | CHD7 | c.6309T>C (p.Gly2103=) c.1717-9195T>C (n.1717-9195T>C) c.6399T>C (p.Gly2133=) c.4386T>C (p.Gly1462=) c.3936T>C (p.Gly1312=) c.3144T>C (p.Gly1048=) | |
| 8 | g.60853034T>G | CA461105206 | CHD7 | c.6309T>G (p.Gly2103=) c.1717-9195T>G (n.1717-9195T>G) c.6399T>G (p.Gly2133=) c.4386T>G (p.Gly1462=) c.3936T>G (p.Gly1312=) c.3144T>G (p.Gly1048=) | dbSNP |
| 8 | g.60853034T= | CA1788103408 | CHD7 | c.6309T= (p.Gly2103=) c.1717-9195T= (n.1717-9195T=) c.6399T= (p.Gly2133=) c.4386T= (p.Gly1462=) c.3936T= (p.Gly1312=) c.3144T= (p.Gly1048=) | |
| 8 | g.60853035G>A | CA371324748 | CHD7 | c.6310G>A (p.Ala2104Thr) c.1717-9194G>A (n.1717-9194G>A) c.6400G>A (p.Ala2134Thr) c.4387G>A (p.Ala1463Thr) c.3937G>A (p.Ala1313Thr) c.3145G>A (p.Ala1049Thr) | gnomAD v4 |
| 8 | g.60853035G>C | CA371324749 | CHD7 | c.6310G>C (p.Ala2104Pro) c.1717-9194G>C (n.1717-9194G>C) c.6400G>C (p.Ala2134Pro) c.4387G>C (p.Ala1463Pro) c.3937G>C (p.Ala1313Pro) c.3145G>C (p.Ala1049Pro) | |
| 8 | g.60853035G>T | CA371324751 | CHD7 | c.6310G>T (p.Ala2104Ser) c.1717-9194G>T (n.1717-9194G>T) c.6400G>T (p.Ala2134Ser) c.4387G>T (p.Ala1463Ser) c.3937G>T (p.Ala1313Ser) c.3145G>T (p.Ala1049Ser) | |
| 8 | g.60853036C>A | CA371324753 | CHD7 | c.6311C>A (p.Ala2104Asp) c.1717-9193C>A (n.1717-9193C>A) c.6401C>A (p.Ala2134Asp) c.4388C>A (p.Ala1463Asp) c.3938C>A (p.Ala1313Asp) c.3146C>A (p.Ala1049Asp) | |
| 8 | g.60853036C>G | CA371324754 | CHD7 | c.6311C>G (p.Ala2104Gly) c.1717-9193C>G (n.1717-9193C>G) c.6401C>G (p.Ala2134Gly) c.4388C>G (p.Ala1463Gly) c.3938C>G (p.Ala1313Gly) c.3146C>G (p.Ala1049Gly) | |
| 8 | g.60853036C>T | CA371324756 | CHD7 | c.6311C>T (p.Ala2104Val) c.1717-9193C>T (n.1717-9193C>T) c.6401C>T (p.Ala2134Val) c.4388C>T (p.Ala1463Val) c.3938C>T (p.Ala1313Val) c.3146C>T (p.Ala1049Val) | gnomAD v4 COSMIC |
| 8 | g.60853037T>A | CA461105208 | CHD7 | c.6312T>A (p.Ala2104=) c.1717-9192T>A (n.1717-9192T>A) c.6402T>A (p.Ala2134=) c.4389T>A (p.Ala1463=) c.3939T>A (p.Ala1313=) c.3147T>A (p.Ala1049=) | |
| 8 | g.60853037T>C | CA461105210 | CHD7 | c.6312T>C (p.Ala2104=) c.1717-9192T>C (n.1717-9192T>C) c.6402T>C (p.Ala2134=) c.4389T>C (p.Ala1463=) c.3939T>C (p.Ala1313=) c.3147T>C (p.Ala1049=) | dbSNP |
| 8 | g.60853037T>G | CA461105212 | CHD7 | c.6312T>G (p.Ala2104=) c.1717-9192T>G (n.1717-9192T>G) c.6402T>G (p.Ala2134=) c.4389T>G (p.Ala1463=) c.3939T>G (p.Ala1313=) c.3147T>G (p.Ala1049=) | |
| 8 | g.60853037T= | CA1788103413 | CHD7 | c.6312T= (p.Ala2104=) c.1717-9192T= (n.1717-9192T=) c.6402T= (p.Ala2134=) c.4389T= (p.Ala1463=) c.3939T= (p.Ala1313=) c.3147T= (p.Ala1049=) | |
| 8 | g.60853038G>A | CA371324757 | CHD7 | c.6313G>A (p.Ala2105Thr) c.1717-9191G>A (n.1717-9191G>A) c.6403G>A (p.Ala2135Thr) c.4390G>A (p.Ala1464Thr) c.3940G>A (p.Ala1314Thr) c.3148G>A (p.Ala1050Thr) | |
| 8 | g.60853038G>C | CA371324758 | CHD7 | c.6313G>C (p.Ala2105Pro) c.1717-9191G>C (n.1717-9191G>C) c.6403G>C (p.Ala2135Pro) c.4390G>C (p.Ala1464Pro) c.3940G>C (p.Ala1314Pro) c.3148G>C (p.Ala1050Pro) | |
| 8 | g.60853038G>T | CA371324760 | CHD7 | c.6313G>T (p.Ala2105Ser) c.1717-9191G>T (n.1717-9191G>T) c.6403G>T (p.Ala2135Ser) c.4390G>T (p.Ala1464Ser) c.3940G>T (p.Ala1314Ser) c.3148G>T (p.Ala1050Ser) | |
| 8 | g.60853039C>A | CA371324762 | CHD7 | c.6314C>A (p.Ala2105Asp) c.1717-9190C>A (n.1717-9190C>A) c.6404C>A (p.Ala2135Asp) c.4391C>A (p.Ala1464Asp) c.3941C>A (p.Ala1314Asp) c.3149C>A (p.Ala1050Asp) | |
| 8 | g.60853039C= | CA1788103414 | CHD7 | c.6314C= (p.Ala2105=) c.1717-9190C= (n.1717-9190C=) c.6404C= (p.Ala2135=) c.4391C= (p.Ala1464=) c.3941C= (p.Ala1314=) c.3149C= (p.Ala1050=) | |
| 8 | g.60853039C>G | CA371324763 | CHD7 | c.6314C>G (p.Ala2105Gly) c.1717-9190C>G (n.1717-9190C>G) c.6404C>G (p.Ala2135Gly) c.4391C>G (p.Ala1464Gly) c.3941C>G (p.Ala1314Gly) c.3149C>G (p.Ala1050Gly) | |
| 8 | g.60853039C>T | CA4760570 | CHD7 | c.6314C>T (p.Ala2105Val) c.1717-9190C>T (n.1717-9190C>T) c.6404C>T (p.Ala2135Val) c.4391C>T (p.Ala1464Val) c.3941C>T (p.Ala1314Val) c.3149C>T (p.Ala1050Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853040T>A | CA461105215 | CHD7 | c.6315T>A (p.Ala2105=) c.1717-9189T>A (n.1717-9189T>A) c.6405T>A (p.Ala2135=) c.4392T>A (p.Ala1464=) c.3942T>A (p.Ala1314=) c.3150T>A (p.Ala1050=) | dbSNP |
| 8 | g.60853040T>C | CA461105216 | CHD7 | c.6315T>C (p.Ala2105=) c.1717-9189T>C (n.1717-9189T>C) c.6405T>C (p.Ala2135=) c.4392T>C (p.Ala1464=) c.3942T>C (p.Ala1314=) c.3150T>C (p.Ala1050=) | |
| 8 | g.60853040T>G | CA461105217 | CHD7 | c.6315T>G (p.Ala2105=) c.1717-9189T>G (n.1717-9189T>G) c.6405T>G (p.Ala2135=) c.4392T>G (p.Ala1464=) c.3942T>G (p.Ala1314=) c.3150T>G (p.Ala1050=) | |
| 8 | g.60853040T= | CA1788103416 | CHD7 | c.6315T= (p.Ala2105=) c.1717-9189T= (n.1717-9189T=) c.6405T= (p.Ala2135=) c.4392T= (p.Ala1464=) c.3942T= (p.Ala1314=) c.3150T= (p.Ala1050=) | |
| 8 | g.60853041A= | CA1788103420 | CHD7 | c.6316A= (p.Lys2106=) c.1717-9188A= (n.1717-9188A=) c.6406A= (p.Lys2136=) c.4393A= (p.Lys1465=) c.3943A= (p.Lys1315=) c.3151A= (p.Lys1051=) | |
| 8 | g.60853041A>C | CA177354080 | CHD7 | c.6316A>C (p.Lys2106Gln) c.1717-9188A>C (n.1717-9188A>C) c.6406A>C (p.Lys2136Gln) c.4393A>C (p.Lys1465Gln) c.3943A>C (p.Lys1315Gln) c.3151A>C (p.Lys1051Gln) | dbSNP gnomAD v4 |
| 8 | g.60853041A>G | CA371324766 | CHD7 | c.6316A>G (p.Lys2106Glu) c.1717-9188A>G (n.1717-9188A>G) c.6406A>G (p.Lys2136Glu) c.4393A>G (p.Lys1465Glu) c.3943A>G (p.Lys1315Glu) c.3151A>G (p.Lys1051Glu) | |
| 8 | g.60853041A>T | CA371324764 | CHD7 | c.6316A>T (p.Lys2106Ter) c.1717-9188A>T (n.1717-9188A>T) c.6406A>T (p.Lys2136Ter) c.4393A>T (p.Lys1465Ter) c.3943A>T (p.Lys1315Ter) c.3151A>T (p.Lys1051Ter) | |
| 8 | g.60853042A>C | CA371324768 | CHD7 | c.6317A>C (p.Lys2106Thr) c.1717-9187A>C (n.1717-9187A>C) c.6407A>C (p.Lys2136Thr) c.4394A>C (p.Lys1465Thr) c.3944A>C (p.Lys1315Thr) c.3152A>C (p.Lys1051Thr) | |
| 8 | g.60853042A>G | CA371324769 | CHD7 | c.6317A>G (p.Lys2106Arg) c.1717-9187A>G (n.1717-9187A>G) c.6407A>G (p.Lys2136Arg) c.4394A>G (p.Lys1465Arg) c.3944A>G (p.Lys1315Arg) c.3152A>G (p.Lys1051Arg) | gnomAD v4 |
| 8 | g.60853042A>T | CA371324770 | CHD7 | c.6317A>T (p.Lys2106Ile) c.1717-9187A>T (n.1717-9187A>T) c.6407A>T (p.Lys2136Ile) c.4394A>T (p.Lys1465Ile) c.3944A>T (p.Lys1315Ile) c.3152A>T (p.Lys1051Ile) | |
| 8 | g.60853043A>C | CA371324771 | CHD7 | c.6318A>C (p.Lys2106Asn) c.1717-9186A>C (n.1717-9186A>C) c.6408A>C (p.Lys2136Asn) c.4395A>C (p.Lys1465Asn) c.3945A>C (p.Lys1315Asn) c.3153A>C (p.Lys1051Asn) | |
| 8 | g.60853043A>G | CA461105219 | CHD7 | c.6318A>G (p.Lys2106=) c.1717-9186A>G (n.1717-9186A>G) c.6408A>G (p.Lys2136=) c.4395A>G (p.Lys1465=) c.3945A>G (p.Lys1315=) c.3153A>G (p.Lys1051=) | |
| 8 | g.60853043A>T | CA371324772 | CHD7 | c.6318A>T (p.Lys2106Asn) c.1717-9186A>T (n.1717-9186A>T) c.6408A>T (p.Lys2136Asn) c.4395A>T (p.Lys1465Asn) c.3945A>T (p.Lys1315Asn) c.3153A>T (p.Lys1051Asn) | |
| 8 | g.60853045_60853046del | CA2695209417 | CHD7 | c.6320_6321del (p.His2107ArgfsTer12) c.1717-9184_1717-9183del (n.1717-9184_1717-9183del) c.6410_6411del (p.His2137ArgfsTer12) c.4397_4398del (p.His1466ArgfsTer12) c.3947_3948del (p.His1316ArgfsTer12) c.3155_3156del (p.His1052ArgfsTer12) | |
| 8 | g.60853044C>A | CA371324777 | CHD7 | c.6319C>A (p.His2107Asn) c.1717-9185C>A (n.1717-9185C>A) c.6409C>A (p.His2137Asn) c.4396C>A (p.His1466Asn) c.3946C>A (p.His1316Asn) c.3154C>A (p.His1052Asn) | |
| 8 | g.60853044C>G | CA371324774 | CHD7 | c.6319C>G (p.His2107Asp) c.1717-9185C>G (n.1717-9185C>G) c.6409C>G (p.His2137Asp) c.4396C>G (p.His1466Asp) c.3946C>G (p.His1316Asp) c.3154C>G (p.His1052Asp) | |
| 8 | g.60853044C>T | CA371324776 | CHD7 | c.6319C>T (p.His2107Tyr) c.1717-9185C>T (n.1717-9185C>T) c.6409C>T (p.His2137Tyr) c.4396C>T (p.His1466Tyr) c.3946C>T (p.His1316Tyr) c.3154C>T (p.His1052Tyr) | |
| 8 | g.60853045A>C | CA371324779 | CHD7 | c.6320A>C (p.His2107Pro) c.1717-9184A>C (n.1717-9184A>C) c.6410A>C (p.His2137Pro) c.4397A>C (p.His1466Pro) c.3947A>C (p.His1316Pro) c.3155A>C (p.His1052Pro) | |
| 8 | g.60853045A>G | CA371324780 | CHD7 | c.6320A>G (p.His2107Arg) c.1717-9184A>G (n.1717-9184A>G) c.6410A>G (p.His2137Arg) c.4397A>G (p.His1466Arg) c.3947A>G (p.His1316Arg) c.3155A>G (p.His1052Arg) | |
| 8 | g.60853045A>T | CA371324781 | CHD7 | c.6320A>T (p.His2107Leu) c.1717-9184A>T (n.1717-9184A>T) c.6410A>T (p.His2137Leu) c.4397A>T (p.His1466Leu) c.3947A>T (p.His1316Leu) c.3155A>T (p.His1052Leu) | |
| 8 | g.60853046C>A | CA371324783 | CHD7 | c.6321C>A (p.His2107Gln) c.1717-9183C>A (n.1717-9183C>A) c.6411C>A (p.His2137Gln) c.4398C>A (p.His1466Gln) c.3948C>A (p.His1316Gln) c.3156C>A (p.His1052Gln) | ClinVar |
| 8 | g.60853046C= | CA1788103449 | CHD7 | c.6321C= (p.His2107=) c.1717-9183C= (n.1717-9183C=) c.6411C= (p.His2137=) c.4398C= (p.His1466=) c.3948C= (p.His1316=) c.3156C= (p.His1052=) | |
| 8 | g.60853046C>G | CA371324784 | CHD7 | c.6321C>G (p.His2107Gln) c.1717-9183C>G (n.1717-9183C>G) c.6411C>G (p.His2137Gln) c.4398C>G (p.His1466Gln) c.3948C>G (p.His1316Gln) c.3156C>G (p.His1052Gln) | |
| 8 | g.60853046C>T | CA4760571 | CHD7 | c.6321C>T (p.His2107=) c.1717-9183C>T (n.1717-9183C>T) c.6411C>T (p.His2137=) c.4398C>T (p.His1466=) c.3948C>T (p.His1316=) c.3156C>T (p.His1052=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853047G>A | CA252062 | CHD7 | c.6322G>A (p.Gly2108Arg) c.1717-9182G>A (n.1717-9182G>A) c.6412G>A (p.Gly2138Arg) c.4399G>A (p.Gly1467Arg) c.3949G>A (p.Gly1317Arg) c.3157G>A (p.Gly1053Arg) | ClinVar dbSNP |
| 8 | g.60853047G>C | CA371324788 | CHD7 | c.6322G>C (p.Gly2108Arg) c.1717-9182G>C (n.1717-9182G>C) c.6412G>C (p.Gly2138Arg) c.4399G>C (p.Gly1467Arg) c.3949G>C (p.Gly1317Arg) c.3157G>C (p.Gly1053Arg) | |
| 8 | g.60853047G= | CA1788103472 | CHD7 | c.6322G= (p.Gly2108=) c.1717-9182G= (n.1717-9182G=) c.6412G= (p.Gly2138=) c.4399G= (p.Gly1467=) c.3949G= (p.Gly1317=) c.3157G= (p.Gly1053=) | |
| 8 | g.60853047G>T | CA371324787 | CHD7 | c.6322G>T (p.Gly2108Trp) c.1717-9182G>T (n.1717-9182G>T) c.6412G>T (p.Gly2138Trp) c.4399G>T (p.Gly1467Trp) c.3949G>T (p.Gly1317Trp) c.3157G>T (p.Gly1053Trp) | |
| 8 | g.60853048G>A | CA371324790 | CHD7 | c.6323G>A (p.Gly2108Glu) c.1717-9181G>A (n.1717-9181G>A) c.6413G>A (p.Gly2138Glu) c.4400G>A (p.Gly1467Glu) c.3950G>A (p.Gly1317Glu) c.3158G>A (p.Gly1053Glu) | ClinVar |
| 8 | g.60853048G>C | CA371324789 | CHD7 | c.6323G>C (p.Gly2108Ala) c.1717-9181G>C (n.1717-9181G>C) c.6413G>C (p.Gly2138Ala) c.4400G>C (p.Gly1467Ala) c.3950G>C (p.Gly1317Ala) c.3158G>C (p.Gly1053Ala) | |
| 8 | g.60853048G>T | CA371324791 | CHD7 | c.6323G>T (p.Gly2108Val) c.1717-9181G>T (n.1717-9181G>T) c.6413G>T (p.Gly2138Val) c.4400G>T (p.Gly1467Val) c.3950G>T (p.Gly1317Val) c.3158G>T (p.Gly1053Val) | |
| 8 | g.60853049G>A | CA461105227 | CHD7 | c.6324G>A (p.Gly2108=) c.1717-9180G>A (n.1717-9180G>A) c.6414G>A (p.Gly2138=) c.4401G>A (p.Gly1467=) c.3951G>A (p.Gly1317=) c.3159G>A (p.Gly1053=) | |
| 8 | g.60853049G>C | CA461105228 | CHD7 | c.6324G>C (p.Gly2108=) c.1717-9180G>C (n.1717-9180G>C) c.6414G>C (p.Gly2138=) c.4401G>C (p.Gly1467=) c.3951G>C (p.Gly1317=) c.3159G>C (p.Gly1053=) | |
| 8 | g.60853049G= | CA1788103479 | CHD7 | c.6324G= (p.Gly2108=) c.1717-9180G= (n.1717-9180G=) c.6414G= (p.Gly2138=) c.4401G= (p.Gly1467=) c.3951G= (p.Gly1317=) c.3159G= (p.Gly1053=) | |
| 8 | g.60853049G>T | CA4760572 | CHD7 | c.6324G>T (p.Gly2108=) c.1717-9180G>T (n.1717-9180G>T) c.6414G>T (p.Gly2138=) c.4401G>T (p.Gly1467=) c.3951G>T (p.Gly1317=) c.3159G>T (p.Gly1053=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853050G>A | CA371324794 | CHD7 | c.6325G>A (p.Val2109Ile) c.1717-9179G>A (n.1717-9179G>A) c.6415G>A (p.Val2139Ile) c.4402G>A (p.Val1468Ile) c.3952G>A (p.Val1318Ile) c.3160G>A (p.Val1054Ile) | dbSNP |
| 8 | g.60853050G>C | CA371324795 | CHD7 | c.6325G>C (p.Val2109Leu) c.1717-9179G>C (n.1717-9179G>C) c.6415G>C (p.Val2139Leu) c.4402G>C (p.Val1468Leu) c.3952G>C (p.Val1318Leu) c.3160G>C (p.Val1054Leu) | |
| 8 | g.60853050G= | CA1788103488 | CHD7 | c.6325G= (p.Val2109=) c.1717-9179G= (n.1717-9179G=) c.6415G= (p.Val2139=) c.4402G= (p.Val1468=) c.3952G= (p.Val1318=) c.3160G= (p.Val1054=) | |
| 8 | g.60853050G>T | CA371324797 | CHD7 | c.6325G>T (p.Val2109Phe) c.1717-9179G>T (n.1717-9179G>T) c.6415G>T (p.Val2139Phe) c.4402G>T (p.Val1468Phe) c.3952G>T (p.Val1318Phe) c.3160G>T (p.Val1054Phe) | ClinVar |
| 8 | g.60853051del | CA2695209418 | CHD7 | c.6326del (p.Val2109AlafsTer?) c.1717-9178del (n.1717-9178del) c.6416del (p.Val2139AlafsTer?) c.4403del (p.Val1468AlafsTer?) c.3953del (p.Val1318AlafsTer?) c.3161del (p.Val1054AlafsTer?) | |
| 8 | g.60853051T>A | CA371324798 | CHD7 | c.6326T>A (p.Val2109Asp) c.1717-9178T>A (n.1717-9178T>A) c.6416T>A (p.Val2139Asp) c.4403T>A (p.Val1468Asp) c.3953T>A (p.Val1318Asp) c.3161T>A (p.Val1054Asp) | |
| 8 | g.60853051T>C | CA371324799 | CHD7 | c.6326T>C (p.Val2109Ala) c.1717-9178T>C (n.1717-9178T>C) c.6416T>C (p.Val2139Ala) c.4403T>C (p.Val1468Ala) c.3953T>C (p.Val1318Ala) c.3161T>C (p.Val1054Ala) | |
| 8 | g.60853051T>G | CA371324800 | CHD7 | c.6326T>G (p.Val2109Gly) c.1717-9178T>G (n.1717-9178T>G) c.6416T>G (p.Val2139Gly) c.4403T>G (p.Val1468Gly) c.3953T>G (p.Val1318Gly) c.3161T>G (p.Val1054Gly) | dbSNP |
| 8 | g.60853051T= | CA1788103492 | CHD7 | c.6326T= (p.Val2109=) c.1717-9178T= (n.1717-9178T=) c.6416T= (p.Val2139=) c.4403T= (p.Val1468=) c.3953T= (p.Val1318=) c.3161T= (p.Val1054=) | |
| 8 | g.60853051_60853052insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA | CA2780535048 | CHD7 | c.6326_6327insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val2109_Ser2110insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.1717-9178_1717-9177insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (n.1717-9178_1717-9177insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA) c.6416_6417insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val2139_Ser2140insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.4403_4404insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val1468_Ser1469insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.3953_3954insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val1318_Ser1319insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) c.3161_3162insTGAGGGCAGCCTCAGCTTGGAAGTCTTCCCTGCTCCTTGGGGCTGTGGTGAGGCTCTGAGGTGTCTTCAGAACCATTACCTCCAACCCTTTTGGTATCTCAGAAA (p.Val1054_Ser1055insGluGlySerLeuSerLeuGluValPheProAlaProTrpGlyCysGlyGluAlaLeuArgCysLeuGlnAsnHisTyrLeuGlnProPheTrpTyrLeuArgAsn) | |
| 8 | g.60853052C>A | CA461105230 | CHD7 | c.6327C>A (p.Val2109=) c.1717-9177C>A (n.1717-9177C>A) c.6417C>A (p.Val2139=) c.4404C>A (p.Val1468=) c.3954C>A (p.Val1318=) c.3162C>A (p.Val1054=) | |
| 8 | g.60853052C>G | CA461105232 | CHD7 | c.6327C>G (p.Val2109=) c.1717-9177C>G (n.1717-9177C>G) c.6417C>G (p.Val2139=) c.4404C>G (p.Val1468=) c.3954C>G (p.Val1318=) c.3162C>G (p.Val1054=) | gnomAD v4 |
| 8 | g.60853052C>T | CA461105231 | CHD7 | c.6327C>T (p.Val2109=) c.1717-9177C>T (n.1717-9177C>T) c.6417C>T (p.Val2139=) c.4404C>T (p.Val1468=) c.3954C>T (p.Val1318=) c.3162C>T (p.Val1054=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853053A>C | CA371324802 | CHD7 | c.6328A>C (p.Ser2110Arg) c.1717-9176A>C (n.1717-9176A>C) c.6418A>C (p.Ser2140Arg) c.4405A>C (p.Ser1469Arg) c.3955A>C (p.Ser1319Arg) c.3163A>C (p.Ser1055Arg) | |
| 8 | g.60853053A>G | CA371324803 | CHD7 | c.6328A>G (p.Ser2110Gly) c.1717-9176A>G (n.1717-9176A>G) c.6418A>G (p.Ser2140Gly) c.4405A>G (p.Ser1469Gly) c.3955A>G (p.Ser1319Gly) c.3163A>G (p.Ser1055Gly) | |
| 8 | g.60853053A>T | CA371324805 | CHD7 | c.6328A>T (p.Ser2110Cys) c.1717-9176A>T (n.1717-9176A>T) c.6418A>T (p.Ser2140Cys) c.4405A>T (p.Ser1469Cys) c.3955A>T (p.Ser1319Cys) c.3163A>T (p.Ser1055Cys) | |
| 8 | g.60853054G>A | CA371324806 | CHD7 | c.6329G>A (p.Ser2110Asn) c.1717-9175G>A (n.1717-9175G>A) c.6419G>A (p.Ser2140Asn) c.4406G>A (p.Ser1469Asn) c.3956G>A (p.Ser1319Asn) c.3164G>A (p.Ser1055Asn) | |
| 8 | g.60853054G>C | CA371324807 | CHD7 | c.6329G>C (p.Ser2110Thr) c.1717-9175G>C (n.1717-9175G>C) c.6419G>C (p.Ser2140Thr) c.4406G>C (p.Ser1469Thr) c.3956G>C (p.Ser1319Thr) c.3164G>C (p.Ser1055Thr) | |
| 8 | g.60853054G>T | CA371324809 | CHD7 | c.6329G>T (p.Ser2110Ile) c.1717-9175G>T (n.1717-9175G>T) c.6419G>T (p.Ser2140Ile) c.4406G>T (p.Ser1469Ile) c.3956G>T (p.Ser1319Ile) c.3164G>T (p.Ser1055Ile) | gnomAD v4 |
| 8 | g.60853055T>A | CA371324812 | CHD7 | c.6330T>A (p.Ser2110Arg) c.1717-9174T>A (n.1717-9174T>A) c.6420T>A (p.Ser2140Arg) c.4407T>A (p.Ser1469Arg) c.3957T>A (p.Ser1319Arg) c.3165T>A (p.Ser1055Arg) | |
| 8 | g.60853055T>C | CA461105234 | CHD7 | c.6330T>C (p.Ser2110=) c.1717-9174T>C (n.1717-9174T>C) c.6420T>C (p.Ser2140=) c.4407T>C (p.Ser1469=) c.3957T>C (p.Ser1319=) c.3165T>C (p.Ser1055=) | |
| 8 | g.60853055T>G | CA371324810 | CHD7 | c.6330T>G (p.Ser2110Arg) c.1717-9174T>G (n.1717-9174T>G) c.6420T>G (p.Ser2140Arg) c.4407T>G (p.Ser1469Arg) c.3957T>G (p.Ser1319Arg) c.3165T>G (p.Ser1055Arg) | |
| 8 | g.60853056C>A | CA461105235 | CHD7 | c.6331C>A (p.Arg2111=) c.1717-9173C>A (n.1717-9173C>A) c.6421C>A (p.Arg2141=) c.4408C>A (p.Arg1470=) c.3958C>A (p.Arg1320=) c.3166C>A (p.Arg1056=) | |
| 8 | g.60853056C>G | CA371324813 | CHD7 | c.6331C>G (p.Arg2111Gly) c.1717-9173C>G (n.1717-9173C>G) c.6421C>G (p.Arg2141Gly) c.4408C>G (p.Arg1470Gly) c.3958C>G (p.Arg1320Gly) c.3166C>G (p.Arg1056Gly) | |
| 8 | g.60853056C>T | CA371324814 | CHD7 | c.6331C>T (p.Arg2111Trp) c.1717-9173C>T (n.1717-9173C>T) c.6421C>T (p.Arg2141Trp) c.4408C>T (p.Arg1470Trp) c.3958C>T (p.Arg1320Trp) c.3166C>T (p.Arg1056Trp) | ClinVar gnomAD v4 |
| 8 | g.60853057G>A | CA371324815 | CHD7 | c.6332G>A (p.Arg2111Gln) c.1717-9172G>A (n.1717-9172G>A) c.6422G>A (p.Arg2141Gln) c.4409G>A (p.Arg1470Gln) c.3959G>A (p.Arg1320Gln) c.3167G>A (p.Arg1056Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853057G>C | CA371324816 | CHD7 | c.6332G>C (p.Arg2111Pro) c.1717-9172G>C (n.1717-9172G>C) c.6422G>C (p.Arg2141Pro) c.4409G>C (p.Arg1470Pro) c.3959G>C (p.Arg1320Pro) c.3167G>C (p.Arg1056Pro) | |
| 8 | g.60853057G= | CA1788103498 | CHD7 | c.6332G= (p.Arg2111=) c.1717-9172G= (n.1717-9172G=) c.6422G= (p.Arg2141=) c.4409G= (p.Arg1470=) c.3959G= (p.Arg1320=) c.3167G= (p.Arg1056=) | |
| 8 | g.60853057G>T | CA371324817 | CHD7 | c.6332G>T (p.Arg2111Leu) c.1717-9172G>T (n.1717-9172G>T) c.6422G>T (p.Arg2141Leu) c.4409G>T (p.Arg1470Leu) c.3959G>T (p.Arg1320Leu) c.3167G>T (p.Arg1056Leu) | |
| 8 | g.60853058G>A | CA461105239 | CHD7 | c.6333G>A (p.Arg2111=) c.1717-9171G>A (n.1717-9171G>A) c.6423G>A (p.Arg2141=) c.4410G>A (p.Arg1470=) c.3960G>A (p.Arg1320=) c.3168G>A (p.Arg1056=) | ClinVar dbSNP |
| 8 | g.60853058G>C | CA461105240 | CHD7 | c.6333G>C (p.Arg2111=) c.1717-9171G>C (n.1717-9171G>C) c.6423G>C (p.Arg2141=) c.4410G>C (p.Arg1470=) c.3960G>C (p.Arg1320=) c.3168G>C (p.Arg1056=) | |
| 8 | g.60853058G= | CA1788103508 | CHD7 | c.6333G= (p.Arg2111=) c.1717-9171G= (n.1717-9171G=) c.6423G= (p.Arg2141=) c.4410G= (p.Arg1470=) c.3960G= (p.Arg1320=) c.3168G= (p.Arg1056=) | |
| 8 | g.60853058G>T | CA461105241 | CHD7 | c.6333G>T (p.Arg2111=) c.1717-9171G>T (n.1717-9171G>T) c.6423G>T (p.Arg2141=) c.4410G>T (p.Arg1470=) c.3960G>T (p.Arg1320=) c.3168G>T (p.Arg1056=) | |
| 8 | g.60853059A>C | CA371324819 | CHD7 | c.6334A>C (p.Thr2112Pro) c.1717-9170A>C (n.1717-9170A>C) c.6424A>C (p.Thr2142Pro) c.4411A>C (p.Thr1471Pro) c.3961A>C (p.Thr1321Pro) c.3169A>C (p.Thr1057Pro) | |
| 8 | g.60853059A>G | CA371324821 | CHD7 | c.6334A>G (p.Thr2112Ala) c.1717-9170A>G (n.1717-9170A>G) c.6424A>G (p.Thr2142Ala) c.4411A>G (p.Thr1471Ala) c.3961A>G (p.Thr1321Ala) c.3169A>G (p.Thr1057Ala) | |
| 8 | g.60853059A>T | CA371324822 | CHD7 | c.6334A>T (p.Thr2112Ser) c.1717-9170A>T (n.1717-9170A>T) c.6424A>T (p.Thr2142Ser) c.4411A>T (p.Thr1471Ser) c.3961A>T (p.Thr1321Ser) c.3169A>T (p.Thr1057Ser) | |
| 8 | g.60853060C>A | CA371324824 | CHD7 | c.6335C>A (p.Thr2112Lys) c.1717-9169C>A (n.1717-9169C>A) c.6425C>A (p.Thr2142Lys) c.4412C>A (p.Thr1471Lys) c.3962C>A (p.Thr1321Lys) c.3170C>A (p.Thr1057Lys) | |
| 8 | g.60853060C= | CA1788103513 | CHD7 | c.6335C= (p.Thr2112=) c.1717-9169C= (n.1717-9169C=) c.6425C= (p.Thr2142=) c.4412C= (p.Thr1471=) c.3962C= (p.Thr1321=) c.3170C= (p.Thr1057=) | |
| 8 | g.60853060C>G | CA371324826 | CHD7 | c.6335C>G (p.Thr2112Arg) c.1717-9169C>G (n.1717-9169C>G) c.6425C>G (p.Thr2142Arg) c.4412C>G (p.Thr1471Arg) c.3962C>G (p.Thr1321Arg) c.3170C>G (p.Thr1057Arg) | |
| 8 | g.60853060C>T | CA4760573 | CHD7 | c.6335C>T (p.Thr2112Met) c.1717-9169C>T (n.1717-9169C>T) c.6425C>T (p.Thr2142Met) c.4412C>T (p.Thr1471Met) c.3962C>T (p.Thr1321Met) c.3170C>T (p.Thr1057Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60853061G>A | CA461105246 | CHD7 | c.6336G>A (p.Thr2112=) c.1717-9168G>A (n.1717-9168G>A) c.6426G>A (p.Thr2142=) c.4413G>A (p.Thr1471=) c.3963G>A (p.Thr1321=) c.3171G>A (p.Thr1057=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853061G>C | CA4760574 | CHD7 | c.6336G>C (p.Thr2112=) c.1717-9168G>C (n.1717-9168G>C) c.6426G>C (p.Thr2142=) c.4413G>C (p.Thr1471=) c.3963G>C (p.Thr1321=) c.3171G>C (p.Thr1057=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853061G= | CA1788103543 | CHD7 | c.6336G= (p.Thr2112=) c.1717-9168G= (n.1717-9168G=) c.6426G= (p.Thr2142=) c.4413G= (p.Thr1471=) c.3963G= (p.Thr1321=) c.3171G= (p.Thr1057=) | |
| 8 | g.60853061G>T | CA461105247 | CHD7 | c.6336G>T (p.Thr2112=) c.1717-9168G>T (n.1717-9168G>T) c.6426G>T (p.Thr2142=) c.4413G>T (p.Thr1471=) c.3963G>T (p.Thr1321=) c.3171G>T (p.Thr1057=) | gnomAD v4 |
| 8 | g.60853062G>A | CA371324828 | CHD7 | c.6337G>A (p.Asp2113Asn) c.1717-9167G>A (n.1717-9167G>A) c.6427G>A (p.Asp2143Asn) c.4414G>A (p.Asp1472Asn) c.3964G>A (p.Asp1322Asn) c.3172G>A (p.Asp1058Asn) | |
| 8 | g.60853062G>C | CA371324829 | CHD7 | c.6337G>C (p.Asp2113His) c.1717-9167G>C (n.1717-9167G>C) c.6427G>C (p.Asp2143His) c.4414G>C (p.Asp1472His) c.3964G>C (p.Asp1322His) c.3172G>C (p.Asp1058His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853062G= | CA1788103549 | CHD7 | c.6337G= (p.Asp2113=) c.1717-9167G= (n.1717-9167G=) c.6427G= (p.Asp2143=) c.4414G= (p.Asp1472=) c.3964G= (p.Asp1322=) c.3172G= (p.Asp1058=) | |
| 8 | g.60853062G>T | CA371324830 | CHD7 | c.6337G>T (p.Asp2113Tyr) c.1717-9167G>T (n.1717-9167G>T) c.6427G>T (p.Asp2143Tyr) c.4414G>T (p.Asp1472Tyr) c.3964G>T (p.Asp1322Tyr) c.3172G>T (p.Asp1058Tyr) | gnomAD v4 |
| 8 | g.60853063A>C | CA371324831 | CHD7 | c.6338A>C (p.Asp2113Ala) c.1717-9166A>C (n.1717-9166A>C) c.6428A>C (p.Asp2143Ala) c.4415A>C (p.Asp1472Ala) c.3965A>C (p.Asp1322Ala) c.3173A>C (p.Asp1058Ala) | |
| 8 | g.60853063A>G | CA371324834 | CHD7 | c.6338A>G (p.Asp2113Gly) c.1717-9166A>G (n.1717-9166A>G) c.6428A>G (p.Asp2143Gly) c.4415A>G (p.Asp1472Gly) c.3965A>G (p.Asp1322Gly) c.3173A>G (p.Asp1058Gly) | |
| 8 | g.60853063A>T | CA371324832 | CHD7 | c.6338A>T (p.Asp2113Val) c.1717-9166A>T (n.1717-9166A>T) c.6428A>T (p.Asp2143Val) c.4415A>T (p.Asp1472Val) c.3965A>T (p.Asp1322Val) c.3173A>T (p.Asp1058Val) | |
| 8 | g.60853064T>A | CA371324836 | CHD7 | c.6339T>A (p.Asp2113Glu) c.1717-9165T>A (n.1717-9165T>A) c.6429T>A (p.Asp2143Glu) c.4416T>A (p.Asp1472Glu) c.3966T>A (p.Asp1322Glu) c.3174T>A (p.Asp1058Glu) | |
| 8 | g.60853064T>C | CA461105250 | CHD7 | c.6339T>C (p.Asp2113=) c.1717-9165T>C (n.1717-9165T>C) c.6429T>C (p.Asp2143=) c.4416T>C (p.Asp1472=) c.3966T>C (p.Asp1322=) c.3174T>C (p.Asp1058=) | |
| 8 | g.60853064T>G | CA371324838 | CHD7 | c.6339T>G (p.Asp2113Glu) c.1717-9165T>G (n.1717-9165T>G) c.6429T>G (p.Asp2143Glu) c.4416T>G (p.Asp1472Glu) c.3966T>G (p.Asp1322Glu) c.3174T>G (p.Asp1058Glu) |