| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852600_60852617del | CA645546297 | CHD7 | c.5997_6014del (p.Phe2000_Lys2005del) c.1717-9629_1717-9612del (n.1717-9629_1717-9612del) n.488_505del c.6087_6104del (p.Phe2030_Lys2035del) c.4074_4091del (p.Phe1359_Lys1364del) c.3624_3641del (p.Phe1209_Lys1214del) c.2832_2849del (p.Phe945_Lys950del) | COSMIC |
| 8 | g.60852608G>A | CA371323907 | CHD7 | c.6005G>A (p.Arg2002Lys) c.1717-9621G>A (n.1717-9621G>A) n.496G>A c.6095G>A (p.Arg2032Lys) c.4082G>A (p.Arg1361Lys) c.3632G>A (p.Arg1211Lys) c.2840G>A (p.Arg947Lys) | dbSNP gnomAD v2 |
| 8 | g.60852608G>C | CA371323908 | CHD7 | c.6005G>C (p.Arg2002Thr) c.1717-9621G>C (n.1717-9621G>C) n.496G>C c.6095G>C (p.Arg2032Thr) c.4082G>C (p.Arg1361Thr) c.3632G>C (p.Arg1211Thr) c.2840G>C (p.Arg947Thr) | |
| 8 | g.60852608G= | CA1788101459 | CHD7 | c.6005G= (p.Arg2002=) c.1717-9621G= (n.1717-9621G=) n.496G= c.6095G= (p.Arg2032=) c.4082G= (p.Arg1361=) c.3632G= (p.Arg1211=) c.2840G= (p.Arg947=) | |
| 8 | g.60852608G>T | CA371323909 | CHD7 | c.6005G>T (p.Arg2002Met) c.1717-9621G>T (n.1717-9621G>T) n.496G>T c.6095G>T (p.Arg2032Met) c.4082G>T (p.Arg1361Met) c.3632G>T (p.Arg1211Met) c.2840G>T (p.Arg947Met) | |
| 8 | g.60852608_60852609insTATAAGAAGTTTATGCTGTAAA | CA2780535780 | CHD7 | c.6005_6006insTATAAGAAGTTTATGCTGTAAA (p.Arg2002SerfsTer10) c.1717-9621_1717-9620insTATAAGAAGTTTATGCTGTAAA (n.1717-9621_1717-9620insTATAAGAAGTTTATGCTGTAAA) n.496_497insTATAAGAAGTTTATGCTGTAAA c.6095_6096insTATAAGAAGTTTATGCTGTAAA (p.Arg2032SerfsTer10) c.4082_4083insTATAAGAAGTTTATGCTGTAAA (p.Arg1361SerfsTer10) c.3632_3633insTATAAGAAGTTTATGCTGTAAA (p.Arg1211SerfsTer10) c.2840_2841insTATAAGAAGTTTATGCTGTAAA (p.Arg947SerfsTer10) | |
| 8 | g.60852609G>A | CA461105018 | CHD7 | c.6006G>A (p.Arg2002=) c.1717-9620G>A (n.1717-9620G>A) n.497G>A c.6096G>A (p.Arg2032=) c.4083G>A (p.Arg1361=) c.3633G>A (p.Arg1211=) c.2841G>A (p.Arg947=) | |
| 8 | g.60852609G>C | CA371323910 | CHD7 | c.6006G>C (p.Arg2002Ser) c.1717-9620G>C (n.1717-9620G>C) n.497G>C c.6096G>C (p.Arg2032Ser) c.4083G>C (p.Arg1361Ser) c.3633G>C (p.Arg1211Ser) c.2841G>C (p.Arg947Ser) | |
| 8 | g.60852609G>T | CA371323911 | CHD7 | c.6006G>T (p.Arg2002Ser) c.1717-9620G>T (n.1717-9620G>T) n.497G>T c.6096G>T (p.Arg2032Ser) c.4083G>T (p.Arg1361Ser) c.3633G>T (p.Arg1211Ser) c.2841G>T (p.Arg947Ser) | gnomAD v4 |
| 8 | g.60852610C>A | CA371323912 | CHD7 | c.6007C>A (p.Leu2003Ile) c.1717-9619C>A (n.1717-9619C>A) n.498C>A c.6097C>A (p.Leu2033Ile) c.4084C>A (p.Leu1362Ile) c.3634C>A (p.Leu1212Ile) c.2842C>A (p.Leu948Ile) | dbSNP |
| 8 | g.60852610C= | CA1788101464 | CHD7 | c.6007C= (p.Leu2003=) c.1717-9619C= (n.1717-9619C=) n.498C= c.6097C= (p.Leu2033=) c.4084C= (p.Leu1362=) c.3634C= (p.Leu1212=) c.2842C= (p.Leu948=) | |
| 8 | g.60852610C>G | CA371323913 | CHD7 | c.6007C>G (p.Leu2003Val) c.1717-9619C>G (n.1717-9619C>G) n.498C>G c.6097C>G (p.Leu2033Val) c.4084C>G (p.Leu1362Val) c.3634C>G (p.Leu1212Val) c.2842C>G (p.Leu948Val) | gnomAD v4 |
| 8 | g.60852610C>T | CA4760505 | CHD7 | c.6007C>T (p.Leu2003Phe) c.1717-9619C>T (n.1717-9619C>T) n.498C>T c.6097C>T (p.Leu2033Phe) c.4084C>T (p.Leu1362Phe) c.3634C>T (p.Leu1212Phe) c.2842C>T (p.Leu948Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852611T>A | CA371323914 | CHD7 | c.6008T>A (p.Leu2003His) c.1717-9618T>A (n.1717-9618T>A) n.499T>A c.6098T>A (p.Leu2033His) c.4085T>A (p.Leu1362His) c.3635T>A (p.Leu1212His) c.2843T>A (p.Leu948His) | |
| 8 | g.60852611T>C | CA371323915 | CHD7 | c.6008T>C (p.Leu2003Pro) c.1717-9618T>C (n.1717-9618T>C) n.499T>C c.6098T>C (p.Leu2033Pro) c.4085T>C (p.Leu1362Pro) c.3635T>C (p.Leu1212Pro) c.2843T>C (p.Leu948Pro) | |
| 8 | g.60852611T>G | CA371323916 | CHD7 | c.6008T>G (p.Leu2003Arg) c.1717-9618T>G (n.1717-9618T>G) n.499T>G c.6098T>G (p.Leu2033Arg) c.4085T>G (p.Leu1362Arg) c.3635T>G (p.Leu1212Arg) c.2843T>G (p.Leu948Arg) | |
| 8 | g.60852612T>A | CA461105019 | CHD7 | c.6009T>A (p.Leu2003=) c.1717-9617T>A (n.1717-9617T>A) n.500T>A c.6099T>A (p.Leu2033=) c.4086T>A (p.Leu1362=) c.3636T>A (p.Leu1212=) c.2844T>A (p.Leu948=) | |
| 8 | g.60852612T>C | CA461105021 | CHD7 | c.6009T>C (p.Leu2003=) c.1717-9617T>C (n.1717-9617T>C) n.500T>C c.6099T>C (p.Leu2033=) c.4086T>C (p.Leu1362=) c.3636T>C (p.Leu1212=) c.2844T>C (p.Leu948=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852612T>G | CA461105020 | CHD7 | c.6009T>G (p.Leu2003=) c.1717-9617T>G (n.1717-9617T>G) n.500T>G c.6099T>G (p.Leu2033=) c.4086T>G (p.Leu1362=) c.3636T>G (p.Leu1212=) c.2844T>G (p.Leu948=) | |
| 8 | g.60852612T= | CA1788101474 | CHD7 | c.6009T= (p.Leu2003=) c.1717-9617T= (n.1717-9617T=) n.500T= c.6099T= (p.Leu2033=) c.4086T= (p.Leu1362=) c.3636T= (p.Leu1212=) c.2844T= (p.Leu948=) | |
| 8 | g.60852613G>A | CA371323919 | CHD7 | c.6010G>A (p.Asp2004Asn) c.1717-9616G>A (n.1717-9616G>A) n.501G>A c.6100G>A (p.Asp2034Asn) c.4087G>A (p.Asp1363Asn) c.3637G>A (p.Asp1213Asn) c.2845G>A (p.Asp949Asn) | |
| 8 | g.60852613G>C | CA371323918 | CHD7 | c.6010G>C (p.Asp2004His) c.1717-9616G>C (n.1717-9616G>C) n.501G>C c.6100G>C (p.Asp2034His) c.4087G>C (p.Asp1363His) c.3637G>C (p.Asp1213His) c.2845G>C (p.Asp949His) | |
| 8 | g.60852613G>T | CA371323917 | CHD7 | c.6010G>T (p.Asp2004Tyr) c.1717-9616G>T (n.1717-9616G>T) n.501G>T c.6100G>T (p.Asp2034Tyr) c.4087G>T (p.Asp1363Tyr) c.3637G>T (p.Asp1213Tyr) c.2845G>T (p.Asp949Tyr) | |
| 8 | g.60852614A>C | CA371323920 | CHD7 | c.6011A>C (p.Asp2004Ala) c.1717-9615A>C (n.1717-9615A>C) n.502A>C c.6101A>C (p.Asp2034Ala) c.4088A>C (p.Asp1363Ala) c.3638A>C (p.Asp1213Ala) c.2846A>C (p.Asp949Ala) | |
| 8 | g.60852614A>G | CA371323921 | CHD7 | c.6011A>G (p.Asp2004Gly) c.1717-9615A>G (n.1717-9615A>G) n.502A>G c.6101A>G (p.Asp2034Gly) c.4088A>G (p.Asp1363Gly) c.3638A>G (p.Asp1213Gly) c.2846A>G (p.Asp949Gly) | |
| 8 | g.60852614A>T | CA371323922 | CHD7 | c.6011A>T (p.Asp2004Val) c.1717-9615A>T (n.1717-9615A>T) n.502A>T c.6101A>T (p.Asp2034Val) c.4088A>T (p.Asp1363Val) c.3638A>T (p.Asp1213Val) c.2846A>T (p.Asp949Val) | |
| 8 | g.60852615C>A | CA371323923 | CHD7 | c.6012C>A (p.Asp2004Glu) c.1717-9614C>A (n.1717-9614C>A) n.503C>A c.6102C>A (p.Asp2034Glu) c.4089C>A (p.Asp1363Glu) c.3639C>A (p.Asp1213Glu) c.2847C>A (p.Asp949Glu) | |
| 8 | g.60852615C= | CA1788101504 | CHD7 | c.6012C= (p.Asp2004=) c.1717-9614C= (n.1717-9614C=) n.503C= c.6102C= (p.Asp2034=) c.4089C= (p.Asp1363=) c.3639C= (p.Asp1213=) c.2847C= (p.Asp949=) | |
| 8 | g.60852615C>G | CA371323924 | CHD7 | c.6012C>G (p.Asp2004Glu) c.1717-9614C>G (n.1717-9614C>G) n.503C>G c.6102C>G (p.Asp2034Glu) c.4089C>G (p.Asp1363Glu) c.3639C>G (p.Asp1213Glu) c.2847C>G (p.Asp949Glu) | |
| 8 | g.60852615C>T | CA461105022 | CHD7 | c.6012C>T (p.Asp2004=) c.1717-9614C>T (n.1717-9614C>T) n.503C>T c.6102C>T (p.Asp2034=) c.4089C>T (p.Asp1363=) c.3639C>T (p.Asp1213=) c.2847C>T (p.Asp949=) | gnomAD v4 |
| 8 | g.60852616A>C | CA371323925 | CHD7 | c.6013A>C (p.Lys2005Gln) c.1717-9613A>C (n.1717-9613A>C) n.504A>C c.6103A>C (p.Lys2035Gln) c.4090A>C (p.Lys1364Gln) c.3640A>C (p.Lys1214Gln) c.2848A>C (p.Lys950Gln) | |
| 8 | g.60852616A>G | CA371323926 | CHD7 | c.6013A>G (p.Lys2005Glu) c.1717-9613A>G (n.1717-9613A>G) n.504A>G c.6103A>G (p.Lys2035Glu) c.4090A>G (p.Lys1364Glu) c.3640A>G (p.Lys1214Glu) c.2848A>G (p.Lys950Glu) | |
| 8 | g.60852616A>T | CA371323927 | CHD7 | c.6013A>T (p.Lys2005Ter) c.1717-9613A>T (n.1717-9613A>T) n.504A>T c.6103A>T (p.Lys2035Ter) c.4090A>T (p.Lys1364Ter) c.3640A>T (p.Lys1214Ter) c.2848A>T (p.Lys950Ter) | |
| 8 | g.60852621dup | CA915945703 | CHD7 | c.6018dup (p.Ser2007IlefsTer2) c.1717-9608dup (n.1717-9608dup) n.509dup c.6108dup (p.Ser2037IlefsTer2) c.4095dup (p.Ser1366IlefsTer2) c.3645dup (p.Ser1216IlefsTer2) c.2853dup (p.Ser952IlefsTer2) | ClinVar dbSNP |
| 8 | g.60852621del | CA2580078848 | CHD7 | c.6018del (p.Lys2006AsnfsTer?) c.1717-9608del (n.1717-9608del) n.509del c.6108del (p.Lys2036AsnfsTer?) c.4095del (p.Lys1365AsnfsTer?) c.3645del (p.Lys1215AsnfsTer?) c.2853del (p.Lys951AsnfsTer?) | ClinVar |
| 8 | g.60852618_60852621del | CA2695209398 | CHD7 | c.6015_6018del (p.Lys2005AsnfsTer?) c.1717-9611_1717-9608del (n.1717-9611_1717-9608del) n.506_509del c.6105_6108del (p.Lys2035AsnfsTer?) c.4092_4095del (p.Lys1364AsnfsTer?) c.3642_3645del (p.Lys1214AsnfsTer?) c.2850_2853del (p.Lys950AsnfsTer?) | |
| 8 | g.60852617A>C | CA371323928 | CHD7 | c.6014A>C (p.Lys2005Thr) c.1717-9612A>C (n.1717-9612A>C) n.505A>C c.6104A>C (p.Lys2035Thr) c.4091A>C (p.Lys1364Thr) c.3641A>C (p.Lys1214Thr) c.2849A>C (p.Lys950Thr) | |
| 8 | g.60852617A>G | CA371323929 | CHD7 | c.6014A>G (p.Lys2005Arg) c.1717-9612A>G (n.1717-9612A>G) n.505A>G c.6104A>G (p.Lys2035Arg) c.4091A>G (p.Lys1364Arg) c.3641A>G (p.Lys1214Arg) c.2849A>G (p.Lys950Arg) | |
| 8 | g.60852617A>T | CA371323930 | CHD7 | c.6014A>T (p.Lys2005Ile) c.1717-9612A>T (n.1717-9612A>T) n.505A>T c.6104A>T (p.Lys2035Ile) c.4091A>T (p.Lys1364Ile) c.3641A>T (p.Lys1214Ile) c.2849A>T (p.Lys950Ile) | |
| 8 | g.60852618A>C | CA371323931 | CHD7 | c.6015A>C (p.Lys2005Asn) c.1717-9611A>C (n.1717-9611A>C) n.506A>C c.6105A>C (p.Lys2035Asn) c.4092A>C (p.Lys1364Asn) c.3642A>C (p.Lys1214Asn) c.2850A>C (p.Lys950Asn) | |
| 8 | g.60852618A>G | CA461105023 | CHD7 | c.6015A>G (p.Lys2005=) c.1717-9611A>G (n.1717-9611A>G) n.506A>G c.6105A>G (p.Lys2035=) c.4092A>G (p.Lys1364=) c.3642A>G (p.Lys1214=) c.2850A>G (p.Lys950=) | |
| 8 | g.60852618A>T | CA371323932 | CHD7 | c.6015A>T (p.Lys2005Asn) c.1717-9611A>T (n.1717-9611A>T) n.506A>T c.6105A>T (p.Lys2035Asn) c.4092A>T (p.Lys1364Asn) c.3642A>T (p.Lys1214Asn) c.2850A>T (p.Lys950Asn) | |
| 8 | g.60852619A>C | CA371323934 | CHD7 | c.6016A>C (p.Lys2006Gln) c.1717-9610A>C (n.1717-9610A>C) n.507A>C c.6106A>C (p.Lys2036Gln) c.4093A>C (p.Lys1365Gln) c.3643A>C (p.Lys1215Gln) c.2851A>C (p.Lys951Gln) | |
| 8 | g.60852619A>G | CA371323935 | CHD7 | c.6016A>G (p.Lys2006Glu) c.1717-9610A>G (n.1717-9610A>G) n.507A>G c.6106A>G (p.Lys2036Glu) c.4093A>G (p.Lys1365Glu) c.3643A>G (p.Lys1215Glu) c.2851A>G (p.Lys951Glu) | |
| 8 | g.60852619A>T | CA371323933 | CHD7 | c.6016A>T (p.Lys2006Ter) c.1717-9610A>T (n.1717-9610A>T) n.507A>T c.6106A>T (p.Lys2036Ter) c.4093A>T (p.Lys1365Ter) c.3643A>T (p.Lys1215Ter) c.2851A>T (p.Lys951Ter) | |
| 8 | g.60852620A>C | CA371323936 | CHD7 | c.6017A>C (p.Lys2006Thr) c.1717-9609A>C (n.1717-9609A>C) n.508A>C c.6107A>C (p.Lys2036Thr) c.4094A>C (p.Lys1365Thr) c.3644A>C (p.Lys1215Thr) c.2852A>C (p.Lys951Thr) | |
| 8 | g.60852620A>G | CA371323938 | CHD7 | c.6017A>G (p.Lys2006Arg) c.1717-9609A>G (n.1717-9609A>G) n.508A>G c.6107A>G (p.Lys2036Arg) c.4094A>G (p.Lys1365Arg) c.3644A>G (p.Lys1215Arg) c.2852A>G (p.Lys951Arg) | gnomAD v4 |
| 8 | g.60852620A>T | CA371323937 | CHD7 | c.6017A>T (p.Lys2006Ile) c.1717-9609A>T (n.1717-9609A>T) n.508A>T c.6107A>T (p.Lys2036Ile) c.4094A>T (p.Lys1365Ile) c.3644A>T (p.Lys1215Ile) c.2852A>T (p.Lys951Ile) | |
| 8 | g.60852621A= | CA1788101514 | CHD7 | c.6018A= (p.Lys2006=) c.1717-9608A= (n.1717-9608A=) n.509A= c.6108A= (p.Lys2036=) c.4095A= (p.Lys1365=) c.3645A= (p.Lys1215=) c.2853A= (p.Lys951=) | |
| 8 | g.60852621A>C | CA371323939 | CHD7 | c.6018A>C (p.Lys2006Asn) c.1717-9608A>C (n.1717-9608A>C) n.509A>C c.6108A>C (p.Lys2036Asn) c.4095A>C (p.Lys1365Asn) c.3645A>C (p.Lys1215Asn) c.2853A>C (p.Lys951Asn) | |
| 8 | g.60852621A>G | CA4760506 | CHD7 | c.6018A>G (p.Lys2006=) c.1717-9608A>G (n.1717-9608A>G) n.509A>G c.6108A>G (p.Lys2036=) c.4095A>G (p.Lys1365=) c.3645A>G (p.Lys1215=) c.2853A>G (p.Lys951=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852621A>T | CA371323940 | CHD7 | c.6018A>T (p.Lys2006Asn) c.1717-9608A>T (n.1717-9608A>T) n.509A>T c.6108A>T (p.Lys2036Asn) c.4095A>T (p.Lys1365Asn) c.3645A>T (p.Lys1215Asn) c.2853A>T (p.Lys951Asn) | |
| 8 | g.60852621_60852622insG | CA2695209399 | CHD7 | c.6018_6019insG (p.Ser2007ValfsTer2) c.1717-9608_1717-9607insG (n.1717-9608_1717-9607insG) n.509_510insG c.6108_6109insG (p.Ser2037ValfsTer2) c.4095_4096insG (p.Ser1366ValfsTer2) c.3645_3646insG (p.Ser1216ValfsTer2) c.2853_2854insG (p.Ser952ValfsTer2) | |
| 8 | g.60852622T>A | CA371323941 | CHD7 | c.6019T>A (p.Ser2007Thr) c.1717-9607T>A (n.1717-9607T>A) n.510T>A c.6109T>A (p.Ser2037Thr) c.4096T>A (p.Ser1366Thr) c.3646T>A (p.Ser1216Thr) c.2854T>A (p.Ser952Thr) | |
| 8 | g.60852622T>C | CA371323943 | CHD7 | c.6019T>C (p.Ser2007Pro) c.1717-9607T>C (n.1717-9607T>C) n.510T>C c.6109T>C (p.Ser2037Pro) c.4096T>C (p.Ser1366Pro) c.3646T>C (p.Ser1216Pro) c.2854T>C (p.Ser952Pro) | |
| 8 | g.60852622T>G | CA371323942 | CHD7 | c.6019T>G (p.Ser2007Ala) c.1717-9607T>G (n.1717-9607T>G) n.510T>G c.6109T>G (p.Ser2037Ala) c.4096T>G (p.Ser1366Ala) c.3646T>G (p.Ser1216Ala) c.2854T>G (p.Ser952Ala) | |
| 8 | g.60852623C>A | CA4760507 | CHD7 | c.6020C>A (p.Ser2007Tyr) c.1717-9606C>A (n.1717-9606C>A) n.511C>A c.6110C>A (p.Ser2037Tyr) c.4097C>A (p.Ser1366Tyr) c.3647C>A (p.Ser1216Tyr) c.2855C>A (p.Ser952Tyr) | dbSNP ExAC gnomAD v2 |
| 8 | g.60852623C= | CA1788101521 | CHD7 | c.6020C= (p.Ser2007=) c.1717-9606C= (n.1717-9606C=) n.511C= c.6110C= (p.Ser2037=) c.4097C= (p.Ser1366=) c.3647C= (p.Ser1216=) c.2855C= (p.Ser952=) | |
| 8 | g.60852623C>G | CA371323944 | CHD7 | c.6020C>G (p.Ser2007Cys) c.1717-9606C>G (n.1717-9606C>G) n.511C>G c.6110C>G (p.Ser2037Cys) c.4097C>G (p.Ser1366Cys) c.3647C>G (p.Ser1216Cys) c.2855C>G (p.Ser952Cys) | gnomAD v4 |
| 8 | g.60852623C>T | CA371323945 | CHD7 | c.6020C>T (p.Ser2007Phe) c.1717-9606C>T (n.1717-9606C>T) n.511C>T c.6110C>T (p.Ser2037Phe) c.4097C>T (p.Ser1366Phe) c.3647C>T (p.Ser1216Phe) c.2855C>T (p.Ser952Phe) | gnomAD v4 |
| 8 | g.60852624T>A | CA461105025 | CHD7 | c.6021T>A (p.Ser2007=) c.1717-9605T>A (n.1717-9605T>A) n.512T>A c.6111T>A (p.Ser2037=) c.4098T>A (p.Ser1366=) c.3648T>A (p.Ser1216=) c.2856T>A (p.Ser952=) | |
| 8 | g.60852624T>C | CA177353946 | CHD7 | c.6021T>C (p.Ser2007=) c.1717-9605T>C (n.1717-9605T>C) n.512T>C c.6111T>C (p.Ser2037=) c.4098T>C (p.Ser1366=) c.3648T>C (p.Ser1216=) c.2856T>C (p.Ser952=) | dbSNP gnomAD v4 |
| 8 | g.60852624T>G | CA461105024 | CHD7 | c.6021T>G (p.Ser2007=) c.1717-9605T>G (n.1717-9605T>G) n.512T>G c.6111T>G (p.Ser2037=) c.4098T>G (p.Ser1366=) c.3648T>G (p.Ser1216=) c.2856T>G (p.Ser952=) | |
| 8 | g.60852624T= | CA1788101523 | CHD7 | c.6021T= (p.Ser2007=) c.1717-9605T= (n.1717-9605T=) n.512T= c.6111T= (p.Ser2037=) c.4098T= (p.Ser1366=) c.3648T= (p.Ser1216=) c.2856T= (p.Ser952=) | |
| 8 | g.60852625G>A | CA371323946 | CHD7 | c.6022G>A (p.Asp2008Asn) c.1717-9604G>A (n.1717-9604G>A) n.513G>A c.6112G>A (p.Asp2038Asn) c.4099G>A (p.Asp1367Asn) c.3649G>A (p.Asp1217Asn) c.2857G>A (p.Asp953Asn) | |
| 8 | g.60852625G>C | CA371323947 | CHD7 | c.6022G>C (p.Asp2008His) c.1717-9604G>C (n.1717-9604G>C) n.513G>C c.6112G>C (p.Asp2038His) c.4099G>C (p.Asp1367His) c.3649G>C (p.Asp1217His) c.2857G>C (p.Asp953His) | COSMIC |
| 8 | g.60852625G>T | CA371323948 | CHD7 | c.6022G>T (p.Asp2008Tyr) c.1717-9604G>T (n.1717-9604G>T) n.513G>T c.6112G>T (p.Asp2038Tyr) c.4099G>T (p.Asp1367Tyr) c.3649G>T (p.Asp1217Tyr) c.2857G>T (p.Asp953Tyr) | |
| 8 | g.60852626A>C | CA371323949 | CHD7 | c.6023A>C (p.Asp2008Ala) c.1717-9603A>C (n.1717-9603A>C) n.514A>C c.6113A>C (p.Asp2038Ala) c.4100A>C (p.Asp1367Ala) c.3650A>C (p.Asp1217Ala) c.2858A>C (p.Asp953Ala) | |
| 8 | g.60852626A>G | CA371323950 | CHD7 | c.6023A>G (p.Asp2008Gly) c.1717-9603A>G (n.1717-9603A>G) n.514A>G c.6113A>G (p.Asp2038Gly) c.4100A>G (p.Asp1367Gly) c.3650A>G (p.Asp1217Gly) c.2858A>G (p.Asp953Gly) | |
| 8 | g.60852626A>T | CA371323951 | CHD7 | c.6023A>T (p.Asp2008Val) c.1717-9603A>T (n.1717-9603A>T) n.514A>T c.6113A>T (p.Asp2038Val) c.4100A>T (p.Asp1367Val) c.3650A>T (p.Asp1217Val) c.2858A>T (p.Asp953Val) | |
| 8 | g.60852627T>A | CA371323952 | CHD7 | c.6024T>A (p.Asp2008Glu) c.1717-9602T>A (n.1717-9602T>A) n.515T>A c.6114T>A (p.Asp2038Glu) c.4101T>A (p.Asp1367Glu) c.3651T>A (p.Asp1217Glu) c.2859T>A (p.Asp953Glu) | |
| 8 | g.60852627T>C | CA461105026 | CHD7 | c.6024T>C (p.Asp2008=) c.1717-9602T>C (n.1717-9602T>C) n.515T>C c.6114T>C (p.Asp2038=) c.4101T>C (p.Asp1367=) c.3651T>C (p.Asp1217=) c.2859T>C (p.Asp953=) | |
| 8 | g.60852627T>G | CA371323953 | CHD7 | c.6024T>G (p.Asp2008Glu) c.1717-9602T>G (n.1717-9602T>G) n.515T>G c.6114T>G (p.Asp2038Glu) c.4101T>G (p.Asp1367Glu) c.3651T>G (p.Asp1217Glu) c.2859T>G (p.Asp953Glu) | |
| 8 | g.60852628G>A | CA371323956 | CHD7 | c.6025G>A (p.Glu2009Lys) c.1717-9601G>A (n.1717-9601G>A) n.516G>A c.6115G>A (p.Glu2039Lys) c.4102G>A (p.Glu1368Lys) c.3652G>A (p.Glu1218Lys) c.2860G>A (p.Glu954Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852628G>C | CA371323954 | CHD7 | c.6025G>C (p.Glu2009Gln) c.1717-9601G>C (n.1717-9601G>C) n.516G>C c.6115G>C (p.Glu2039Gln) c.4102G>C (p.Glu1368Gln) c.3652G>C (p.Glu1218Gln) c.2860G>C (p.Glu954Gln) | |
| 8 | g.60852628G= | CA1788101528 | CHD7 | c.6025G= (p.Glu2009=) c.1717-9601G= (n.1717-9601G=) n.516G= c.6115G= (p.Glu2039=) c.4102G= (p.Glu1368=) c.3652G= (p.Glu1218=) c.2860G= (p.Glu954=) | |
| 8 | g.60852628G>T | CA371323955 | CHD7 | c.6025G>T (p.Glu2009Ter) c.1717-9601G>T (n.1717-9601G>T) n.516G>T c.6115G>T (p.Glu2039Ter) c.4102G>T (p.Glu1368Ter) c.3652G>T (p.Glu1218Ter) c.2860G>T (p.Glu954Ter) | |
| 8 | g.60852629A>C | CA371323957 | CHD7 | c.6026A>C (p.Glu2009Ala) c.1717-9600A>C (n.1717-9600A>C) n.517A>C c.6116A>C (p.Glu2039Ala) c.4103A>C (p.Glu1368Ala) c.3653A>C (p.Glu1218Ala) c.2861A>C (p.Glu954Ala) | ClinVar gnomAD v4 |
| 8 | g.60852629A>G | CA371323958 | CHD7 | c.6026A>G (p.Glu2009Gly) c.1717-9600A>G (n.1717-9600A>G) n.517A>G c.6116A>G (p.Glu2039Gly) c.4103A>G (p.Glu1368Gly) c.3653A>G (p.Glu1218Gly) c.2861A>G (p.Glu954Gly) | ClinVar |
| 8 | g.60852629A>T | CA371323959 | CHD7 | c.6026A>T (p.Glu2009Val) c.1717-9600A>T (n.1717-9600A>T) n.517A>T c.6116A>T (p.Glu2039Val) c.4103A>T (p.Glu1368Val) c.3653A>T (p.Glu1218Val) c.2861A>T (p.Glu954Val) | |
| 8 | g.60852630G>A | CA461105027 | CHD7 | c.6027G>A (p.Glu2009=) c.1717-9599G>A (n.1717-9599G>A) n.518G>A c.6117G>A (p.Glu2039=) c.4104G>A (p.Glu1368=) c.3654G>A (p.Glu1218=) c.2862G>A (p.Glu954=) | gnomAD v4 |
| 8 | g.60852630G>C | CA371323960 | CHD7 | c.6027G>C (p.Glu2009Asp) c.1717-9599G>C (n.1717-9599G>C) n.518G>C c.6117G>C (p.Glu2039Asp) c.4104G>C (p.Glu1368Asp) c.3654G>C (p.Glu1218Asp) c.2862G>C (p.Glu954Asp) | |
| 8 | g.60852630G>T | CA371323961 | CHD7 | c.6027G>T (p.Glu2009Asp) c.1717-9599G>T (n.1717-9599G>T) n.518G>T c.6117G>T (p.Glu2039Asp) c.4104G>T (p.Glu1368Asp) c.3654G>T (p.Glu1218Asp) c.2862G>T (p.Glu954Asp) | |
| 8 | g.60852631A= | CA1788101532 | CHD7 | c.6028A= (p.Ser2010=) c.1717-9598A= (n.1717-9598A=) n.519A= c.6118A= (p.Ser2040=) c.4105A= (p.Ser1369=) c.3655A= (p.Ser1219=) c.2863A= (p.Ser955=) | |
| 8 | g.60852631A>C | CA371323962 | CHD7 | c.6028A>C (p.Ser2010Arg) c.1717-9598A>C (n.1717-9598A>C) n.519A>C c.6118A>C (p.Ser2040Arg) c.4105A>C (p.Ser1369Arg) c.3655A>C (p.Ser1219Arg) c.2863A>C (p.Ser955Arg) | |
| 8 | g.60852631A>G | CA177353948 | CHD7 | c.6028A>G (p.Ser2010Gly) c.1717-9598A>G (n.1717-9598A>G) n.519A>G c.6118A>G (p.Ser2040Gly) c.4105A>G (p.Ser1369Gly) c.3655A>G (p.Ser1219Gly) c.2863A>G (p.Ser955Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852631A>T | CA371323963 | CHD7 | c.6028A>T (p.Ser2010Cys) c.1717-9598A>T (n.1717-9598A>T) n.519A>T c.6118A>T (p.Ser2040Cys) c.4105A>T (p.Ser1369Cys) c.3655A>T (p.Ser1219Cys) c.2863A>T (p.Ser955Cys) | |
| 8 | g.60852632G>A | CA371323964 | CHD7 | c.6029G>A (p.Ser2010Asn) c.1717-9597G>A (n.1717-9597G>A) n.520G>A c.6119G>A (p.Ser2040Asn) c.4106G>A (p.Ser1369Asn) c.3656G>A (p.Ser1219Asn) c.2864G>A (p.Ser955Asn) | gnomAD v4 |
| 8 | g.60852632G>C | CA371323965 | CHD7 | c.6029G>C (p.Ser2010Thr) c.1717-9597G>C (n.1717-9597G>C) n.520G>C c.6119G>C (p.Ser2040Thr) c.4106G>C (p.Ser1369Thr) c.3656G>C (p.Ser1219Thr) c.2864G>C (p.Ser955Thr) | |
| 8 | g.60852632G= | CA1788101537 | CHD7 | c.6029G= (p.Ser2010=) c.1717-9597G= (n.1717-9597G=) n.520G= c.6119G= (p.Ser2040=) c.4106G= (p.Ser1369=) c.3656G= (p.Ser1219=) c.2864G= (p.Ser955=) | |
| 8 | g.60852632G>T | CA4760508 | CHD7 | c.6029G>T (p.Ser2010Ile) c.1717-9597G>T (n.1717-9597G>T) n.520G>T c.6119G>T (p.Ser2040Ile) c.4106G>T (p.Ser1369Ile) c.3656G>T (p.Ser1219Ile) c.2864G>T (p.Ser955Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852633T>A | CA371323966 | CHD7 | c.6030T>A (p.Ser2010Arg) c.1717-9596T>A (n.1717-9596T>A) n.521T>A c.6120T>A (p.Ser2040Arg) c.4107T>A (p.Ser1369Arg) c.3657T>A (p.Ser1219Arg) c.2865T>A (p.Ser955Arg) | |
| 8 | g.60852633T>C | CA461105028 | CHD7 | c.6030T>C (p.Ser2010=) c.1717-9596T>C (n.1717-9596T>C) n.521T>C c.6120T>C (p.Ser2040=) c.4107T>C (p.Ser1369=) c.3657T>C (p.Ser1219=) c.2865T>C (p.Ser955=) | |
| 8 | g.60852633T>G | CA371323967 | CHD7 | c.6030T>G (p.Ser2010Arg) c.1717-9596T>G (n.1717-9596T>G) n.521T>G c.6120T>G (p.Ser2040Arg) c.4107T>G (p.Ser1369Arg) c.3657T>G (p.Ser1219Arg) c.2865T>G (p.Ser955Arg) | |
| 8 | g.60852634T>A | CA371323968 | CHD7 | c.6031T>A (p.Leu2011Met) c.1717-9595T>A (n.1717-9595T>A) n.522T>A c.6121T>A (p.Leu2041Met) c.4108T>A (p.Leu1370Met) c.3658T>A (p.Leu1220Met) c.2866T>A (p.Leu956Met) | |
| 8 | g.60852634T>C | CA461105029 | CHD7 | c.6031T>C (p.Leu2011=) c.1717-9595T>C (n.1717-9595T>C) n.522T>C c.6121T>C (p.Leu2041=) c.4108T>C (p.Leu1370=) c.3658T>C (p.Leu1220=) c.2866T>C (p.Leu956=) | |
| 8 | g.60852634T>G | CA371323969 | CHD7 | c.6031T>G (p.Leu2011Val) c.1717-9595T>G (n.1717-9595T>G) n.522T>G c.6121T>G (p.Leu2041Val) c.4108T>G (p.Leu1370Val) c.3658T>G (p.Leu1220Val) c.2866T>G (p.Leu956Val) | |
| 8 | g.60852635T>A | CA371323970 | CHD7 | c.6032T>A (p.Leu2011Ter) c.1717-9594T>A (n.1717-9594T>A) n.523T>A c.6122T>A (p.Leu2041Ter) c.4109T>A (p.Leu1370Ter) c.3659T>A (p.Leu1220Ter) c.2867T>A (p.Leu956Ter) | |
| 8 | g.60852635T>C | CA371323971 | CHD7 | c.6032T>C (p.Leu2011Ser) c.1717-9594T>C (n.1717-9594T>C) n.523T>C c.6122T>C (p.Leu2041Ser) c.4109T>C (p.Leu1370Ser) c.3659T>C (p.Leu1220Ser) c.2867T>C (p.Leu956Ser) | |
| 8 | g.60852635T>G | CA371323972 | CHD7 | c.6032T>G (p.Leu2011Trp) c.1717-9594T>G (n.1717-9594T>G) n.523T>G c.6122T>G (p.Leu2041Trp) c.4109T>G (p.Leu1370Trp) c.3659T>G (p.Leu1220Trp) c.2867T>G (p.Leu956Trp) | |
| 8 | g.60852636G>A | CA461105030 | CHD7 | c.6033G>A (p.Leu2011=) c.1717-9593G>A (n.1717-9593G>A) n.524G>A c.6123G>A (p.Leu2041=) c.4110G>A (p.Leu1370=) c.3660G>A (p.Leu1220=) c.2868G>A (p.Leu956=) | ClinVar dbSNP |
| 8 | g.60852636G>C | CA371323973 | CHD7 | c.6033G>C (p.Leu2011Phe) c.1717-9593G>C (n.1717-9593G>C) n.524G>C c.6123G>C (p.Leu2041Phe) c.4110G>C (p.Leu1370Phe) c.3660G>C (p.Leu1220Phe) c.2868G>C (p.Leu956Phe) | |
| 8 | g.60852636G= | CA1788101542 | CHD7 | c.6033G= (p.Leu2011=) c.1717-9593G= (n.1717-9593G=) n.524G= c.6123G= (p.Leu2041=) c.4110G= (p.Leu1370=) c.3660G= (p.Leu1220=) c.2868G= (p.Leu956=) | |
| 8 | g.60852636G>T | CA371323974 | CHD7 | c.6033G>T (p.Leu2011Phe) c.1717-9593G>T (n.1717-9593G>T) n.524G>T c.6123G>T (p.Leu2041Phe) c.4110G>T (p.Leu1370Phe) c.3660G>T (p.Leu1220Phe) c.2868G>T (p.Leu956Phe) | |
| 8 | g.60852637G>A | CA177353952 | CHD7 | c.6034G>A (p.Glu2012Lys) c.1717-9592G>A (n.1717-9592G>A) n.525G>A c.6124G>A (p.Glu2042Lys) c.4111G>A (p.Glu1371Lys) c.3661G>A (p.Glu1221Lys) c.2869G>A (p.Glu957Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852637G>C | CA371323975 | CHD7 | c.6034G>C (p.Glu2012Gln) c.1717-9592G>C (n.1717-9592G>C) n.525G>C c.6124G>C (p.Glu2042Gln) c.4111G>C (p.Glu1371Gln) c.3661G>C (p.Glu1221Gln) c.2869G>C (p.Glu957Gln) | |
| 8 | g.60852637G= | CA1788101550 | CHD7 | c.6034G= (p.Glu2012=) c.1717-9592G= (n.1717-9592G=) n.525G= c.6124G= (p.Glu2042=) c.4111G= (p.Glu1371=) c.3661G= (p.Glu1221=) c.2869G= (p.Glu957=) | |
| 8 | g.60852637G>T | CA371323976 | CHD7 | c.6034G>T (p.Glu2012Ter) c.1717-9592G>T (n.1717-9592G>T) n.525G>T c.6124G>T (p.Glu2042Ter) c.4111G>T (p.Glu1371Ter) c.3661G>T (p.Glu1221Ter) c.2869G>T (p.Glu957Ter) | |
| 8 | g.60852638A= | CA1788101559 | CHD7 | c.6035A= (p.Glu2012=) c.1717-9591A= (n.1717-9591A=) n.526A= c.6125A= (p.Glu2042=) c.4112A= (p.Glu1371=) c.3662A= (p.Glu1221=) c.2870A= (p.Glu957=) | |
| 8 | g.60852638A>C | CA371323977 | CHD7 | c.6035A>C (p.Glu2012Ala) c.1717-9591A>C (n.1717-9591A>C) n.526A>C c.6125A>C (p.Glu2042Ala) c.4112A>C (p.Glu1371Ala) c.3662A>C (p.Glu1221Ala) c.2870A>C (p.Glu957Ala) | |
| 8 | g.60852638A>G | CA371323978 | CHD7 | c.6035A>G (p.Glu2012Gly) c.1717-9591A>G (n.1717-9591A>G) n.526A>G c.6125A>G (p.Glu2042Gly) c.4112A>G (p.Glu1371Gly) c.3662A>G (p.Glu1221Gly) c.2870A>G (p.Glu957Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852638A>T | CA371323979 | CHD7 | c.6035A>T (p.Glu2012Val) c.1717-9591A>T (n.1717-9591A>T) n.526A>T c.6125A>T (p.Glu2042Val) c.4112A>T (p.Glu1371Val) c.3662A>T (p.Glu1221Val) c.2870A>T (p.Glu957Val) | ClinVar dbSNP |
| 8 | g.60852639G>A | CA461105031 | CHD7 | c.6036G>A (p.Glu2012=) c.1717-9590G>A (n.1717-9590G>A) n.527G>A c.6126G>A (p.Glu2042=) c.4113G>A (p.Glu1371=) c.3663G>A (p.Glu1221=) c.2871G>A (p.Glu957=) | |
| 8 | g.60852639G>C | CA371323980 | CHD7 | c.6036G>C (p.Glu2012Asp) c.1717-9590G>C (n.1717-9590G>C) n.527G>C c.6126G>C (p.Glu2042Asp) c.4113G>C (p.Glu1371Asp) c.3663G>C (p.Glu1221Asp) c.2871G>C (p.Glu957Asp) | |
| 8 | g.60852639G>T | CA371323981 | CHD7 | c.6036G>T (p.Glu2012Asp) c.1717-9590G>T (n.1717-9590G>T) n.527G>T c.6126G>T (p.Glu2042Asp) c.4113G>T (p.Glu1371Asp) c.3663G>T (p.Glu1221Asp) c.2871G>T (p.Glu957Asp) | |
| 8 | g.60852640A>C | CA371323982 | CHD7 | c.6037A>C (p.Lys2013Gln) c.1717-9589A>C (n.1717-9589A>C) c.6127A>C (p.Lys2043Gln) c.4114A>C (p.Lys1372Gln) c.3664A>C (p.Lys1222Gln) c.2872A>C (p.Lys958Gln) | |
| 8 | g.60852640A>G | CA371323983 | CHD7 | c.6037A>G (p.Lys2013Glu) c.1717-9589A>G (n.1717-9589A>G) c.6127A>G (p.Lys2043Glu) c.4114A>G (p.Lys1372Glu) c.3664A>G (p.Lys1222Glu) c.2872A>G (p.Lys958Glu) | |
| 8 | g.60852640A>T | CA371323984 | CHD7 | c.6037A>T (p.Lys2013Ter) c.1717-9589A>T (n.1717-9589A>T) c.6127A>T (p.Lys2043Ter) c.4114A>T (p.Lys1372Ter) c.3664A>T (p.Lys1222Ter) c.2872A>T (p.Lys958Ter) | |
| 8 | g.60852641A>C | CA371323985 | CHD7 | c.6038A>C (p.Lys2013Thr) c.1717-9588A>C (n.1717-9588A>C) c.6128A>C (p.Lys2043Thr) c.4115A>C (p.Lys1372Thr) c.3665A>C (p.Lys1222Thr) c.2873A>C (p.Lys958Thr) | COSMIC |
| 8 | g.60852641A>G | CA371323986 | CHD7 | c.6038A>G (p.Lys2013Arg) c.1717-9588A>G (n.1717-9588A>G) c.6128A>G (p.Lys2043Arg) c.4115A>G (p.Lys1372Arg) c.3665A>G (p.Lys1222Arg) c.2873A>G (p.Lys958Arg) | |
| 8 | g.60852641A>T | CA371323987 | CHD7 | c.6038A>T (p.Lys2013Ile) c.1717-9588A>T (n.1717-9588A>T) c.6128A>T (p.Lys2043Ile) c.4115A>T (p.Lys1372Ile) c.3665A>T (p.Lys1222Ile) c.2873A>T (p.Lys958Ile) | |
| 8 | g.60852642A>C | CA371323988 | CHD7 | c.6039A>C (p.Lys2013Asn) c.1717-9587A>C (n.1717-9587A>C) c.6129A>C (p.Lys2043Asn) c.4116A>C (p.Lys1372Asn) c.3666A>C (p.Lys1222Asn) c.2874A>C (p.Lys958Asn) | gnomAD v4 |
| 8 | g.60852642A>G | CA461105032 | CHD7 | c.6039A>G (p.Lys2013=) c.1717-9587A>G (n.1717-9587A>G) c.6129A>G (p.Lys2043=) c.4116A>G (p.Lys1372=) c.3666A>G (p.Lys1222=) c.2874A>G (p.Lys958=) | |
| 8 | g.60852642A>T | CA371323989 | CHD7 | c.6039A>T (p.Lys2013Asn) c.1717-9587A>T (n.1717-9587A>T) c.6129A>T (p.Lys2043Asn) c.4116A>T (p.Lys1372Asn) c.3666A>T (p.Lys1222Asn) c.2874A>T (p.Lys958Asn) | |
| 8 | g.60852643T>A | CA371323990 | CHD7 | c.6040T>A (p.Tyr2014Asn) c.1717-9586T>A (n.1717-9586T>A) c.6130T>A (p.Tyr2044Asn) c.4117T>A (p.Tyr1373Asn) c.3667T>A (p.Tyr1223Asn) c.2875T>A (p.Tyr959Asn) | |
| 8 | g.60852643T>C | CA371323991 | CHD7 | c.6040T>C (p.Tyr2014His) c.1717-9586T>C (n.1717-9586T>C) c.6130T>C (p.Tyr2044His) c.4117T>C (p.Tyr1373His) c.3667T>C (p.Tyr1223His) c.2875T>C (p.Tyr959His) | dbSNP |
| 8 | g.60852643T>G | CA371323992 | CHD7 | c.6040T>G (p.Tyr2014Asp) c.1717-9586T>G (n.1717-9586T>G) c.6130T>G (p.Tyr2044Asp) c.4117T>G (p.Tyr1373Asp) c.3667T>G (p.Tyr1223Asp) c.2875T>G (p.Tyr959Asp) | |
| 8 | g.60852643T= | CA1788101566 | CHD7 | c.6040T= (p.Tyr2014=) c.1717-9586T= (n.1717-9586T=) c.6130T= (p.Tyr2044=) c.4117T= (p.Tyr1373=) c.3667T= (p.Tyr1223=) c.2875T= (p.Tyr959=) | |
| 8 | g.60852644A>C | CA371323995 | CHD7 | c.6041A>C (p.Tyr2014Ser) c.1717-9585A>C (n.1717-9585A>C) c.6131A>C (p.Tyr2044Ser) c.4118A>C (p.Tyr1373Ser) c.3668A>C (p.Tyr1223Ser) c.2876A>C (p.Tyr959Ser) | |
| 8 | g.60852644A>G | CA371323994 | CHD7 | c.6041A>G (p.Tyr2014Cys) c.1717-9585A>G (n.1717-9585A>G) c.6131A>G (p.Tyr2044Cys) c.4118A>G (p.Tyr1373Cys) c.3668A>G (p.Tyr1223Cys) c.2876A>G (p.Tyr959Cys) | |
| 8 | g.60852644A>T | CA371323993 | CHD7 | c.6041A>T (p.Tyr2014Phe) c.1717-9585A>T (n.1717-9585A>T) c.6131A>T (p.Tyr2044Phe) c.4118A>T (p.Tyr1373Phe) c.3668A>T (p.Tyr1223Phe) c.2876A>T (p.Tyr959Phe) | |
| 8 | g.60852644dup | CA2695209400 | CHD7 | c.6041dup (p.Tyr2014Ter) c.1717-9585dup (n.1717-9585dup) c.6131dup (p.Tyr2044Ter) c.4118dup (p.Tyr1373Ter) c.3668dup (p.Tyr1223Ter) c.2876dup (p.Tyr959Ter) | |
| 8 | g.60852645C>A | CA371323996 | CHD7 | c.6042C>A (p.Tyr2014Ter) c.1717-9584C>A (n.1717-9584C>A) c.6132C>A (p.Tyr2044Ter) c.4119C>A (p.Tyr1373Ter) c.3669C>A (p.Tyr1223Ter) c.2877C>A (p.Tyr959Ter) | |
| 8 | g.60852645C= | CA1788101571 | CHD7 | c.6042C= (p.Tyr2014=) c.1717-9584C= (n.1717-9584C=) c.6132C= (p.Tyr2044=) c.4119C= (p.Tyr1373=) c.3669C= (p.Tyr1223=) c.2877C= (p.Tyr959=) | |
| 8 | g.60852645C>G | CA371323997 | CHD7 | c.6042C>G (p.Tyr2014Ter) c.1717-9584C>G (n.1717-9584C>G) c.6132C>G (p.Tyr2044Ter) c.4119C>G (p.Tyr1373Ter) c.3669C>G (p.Tyr1223Ter) c.2877C>G (p.Tyr959Ter) | |
| 8 | g.60852645C>T | CA461105033 | CHD7 | c.6042C>T (p.Tyr2014=) c.1717-9584C>T (n.1717-9584C>T) c.6132C>T (p.Tyr2044=) c.4119C>T (p.Tyr1373=) c.3669C>T (p.Tyr1223=) c.2877C>T (p.Tyr959=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852646T>A | CA371323998 | CHD7 | c.6043T>A (p.Phe2015Ile) c.1717-9583T>A (n.1717-9583T>A) c.6133T>A (p.Phe2045Ile) c.4120T>A (p.Phe1374Ile) c.3670T>A (p.Phe1224Ile) c.2878T>A (p.Phe960Ile) | |
| 8 | g.60852646T>C | CA371323999 | CHD7 | c.6043T>C (p.Phe2015Leu) c.1717-9583T>C (n.1717-9583T>C) c.6133T>C (p.Phe2045Leu) c.4120T>C (p.Phe1374Leu) c.3670T>C (p.Phe1224Leu) c.2878T>C (p.Phe960Leu) | dbSNP |
| 8 | g.60852646T>G | CA371324000 | CHD7 | c.6043T>G (p.Phe2015Val) c.1717-9583T>G (n.1717-9583T>G) c.6133T>G (p.Phe2045Val) c.4120T>G (p.Phe1374Val) c.3670T>G (p.Phe1224Val) c.2878T>G (p.Phe960Val) | |
| 8 | g.60852646T= | CA1788101578 | CHD7 | c.6043T= (p.Phe2015=) c.1717-9583T= (n.1717-9583T=) c.6133T= (p.Phe2045=) c.4120T= (p.Phe1374=) c.3670T= (p.Phe1224=) c.2878T= (p.Phe960=) | |
| 8 | g.60852647del | CA2695209401 | CHD7 | c.6044del (p.Phe2015SerfsTer28) c.1717-9582del (n.1717-9582del) c.6134del (p.Phe2045SerfsTer28) c.4121del (p.Phe1374SerfsTer28) c.3671del (p.Phe1224SerfsTer28) c.2879del (p.Phe960SerfsTer28) | |
| 8 | g.60852647T>A | CA371324001 | CHD7 | c.6044T>A (p.Phe2015Tyr) c.1717-9582T>A (n.1717-9582T>A) c.6134T>A (p.Phe2045Tyr) c.4121T>A (p.Phe1374Tyr) c.3671T>A (p.Phe1224Tyr) c.2879T>A (p.Phe960Tyr) | |
| 8 | g.60852647T>C | CA371324002 | CHD7 | c.6044T>C (p.Phe2015Ser) c.1717-9582T>C (n.1717-9582T>C) c.6134T>C (p.Phe2045Ser) c.4121T>C (p.Phe1374Ser) c.3671T>C (p.Phe1224Ser) c.2879T>C (p.Phe960Ser) | |
| 8 | g.60852647T>G | CA371324003 | CHD7 | c.6044T>G (p.Phe2015Cys) c.1717-9582T>G (n.1717-9582T>G) c.6134T>G (p.Phe2045Cys) c.4121T>G (p.Phe1374Cys) c.3671T>G (p.Phe1224Cys) c.2879T>G (p.Phe960Cys) | |
| 8 | g.60852648del | CA2573332920 | CHD7 | c.6045del (p.Phe2015LeufsTer28) c.1717-9581del (n.1717-9581del) c.6135del (p.Phe2045LeufsTer28) c.4122del (p.Phe1374LeufsTer28) c.3672del (p.Phe1224LeufsTer28) c.2880del (p.Phe960LeufsTer28) | ClinVar |
| 8 | g.60852648C>A | CA371324004 | CHD7 | c.6045C>A (p.Phe2015Leu) c.1717-9581C>A (n.1717-9581C>A) c.6135C>A (p.Phe2045Leu) c.4122C>A (p.Phe1374Leu) c.3672C>A (p.Phe1224Leu) c.2880C>A (p.Phe960Leu) | |
| 8 | g.60852648C= | CA1788101610 | CHD7 | c.6045C= (p.Phe2015=) c.1717-9581C= (n.1717-9581C=) c.6135C= (p.Phe2045=) c.4122C= (p.Phe1374=) c.3672C= (p.Phe1224=) c.2880C= (p.Phe960=) | |
| 8 | g.60852648C>G | CA177353955 | CHD7 | c.6045C>G (p.Phe2015Leu) c.1717-9581C>G (n.1717-9581C>G) c.6135C>G (p.Phe2045Leu) c.4122C>G (p.Phe1374Leu) c.3672C>G (p.Phe1224Leu) c.2880C>G (p.Phe960Leu) | dbSNP |
| 8 | g.60852648C>T | CA461105034 | CHD7 | c.6045C>T (p.Phe2015=) c.1717-9581C>T (n.1717-9581C>T) c.6135C>T (p.Phe2045=) c.4122C>T (p.Phe1374=) c.3672C>T (p.Phe1224=) c.2880C>T (p.Phe960=) | gnomAD v4 |
| 8 | g.60852648_60852649del | CA2580078849 | CHD7 | c.6045_6046del (p.Phe2015LeufsTer8) c.1717-9581_1717-9580del (n.1717-9581_1717-9580del) c.6135_6136del (p.Phe2045LeufsTer8) c.4122_4123del (p.Phe1374LeufsTer8) c.3672_3673del (p.Phe1224LeufsTer8) c.2880_2881del (p.Phe960LeufsTer8) | ClinVar |
| 8 | g.60852649A>C | CA371324005 | CHD7 | c.6046A>C (p.Ser2016Arg) c.1717-9580A>C (n.1717-9580A>C) c.6136A>C (p.Ser2046Arg) c.4123A>C (p.Ser1375Arg) c.3673A>C (p.Ser1225Arg) c.2881A>C (p.Ser961Arg) | |
| 8 | g.60852649A>G | CA371324006 | CHD7 | c.6046A>G (p.Ser2016Gly) c.1717-9580A>G (n.1717-9580A>G) c.6136A>G (p.Ser2046Gly) c.4123A>G (p.Ser1375Gly) c.3673A>G (p.Ser1225Gly) c.2881A>G (p.Ser961Gly) | |
| 8 | g.60852649A>T | CA371324007 | CHD7 | c.6046A>T (p.Ser2016Cys) c.1717-9580A>T (n.1717-9580A>T) c.6136A>T (p.Ser2046Cys) c.4123A>T (p.Ser1375Cys) c.3673A>T (p.Ser1225Cys) c.2881A>T (p.Ser961Cys) | gnomAD v4 |
| 8 | g.60852650G>A | CA371324010 | CHD7 | c.6047G>A (p.Ser2016Asn) c.1717-9579G>A (n.1717-9579G>A) c.6137G>A (p.Ser2046Asn) c.4124G>A (p.Ser1375Asn) c.3674G>A (p.Ser1225Asn) c.2882G>A (p.Ser961Asn) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852650G>C | CA371324009 | CHD7 | c.6047G>C (p.Ser2016Thr) c.1717-9579G>C (n.1717-9579G>C) c.6137G>C (p.Ser2046Thr) c.4124G>C (p.Ser1375Thr) c.3674G>C (p.Ser1225Thr) c.2882G>C (p.Ser961Thr) | |
| 8 | g.60852650G= | CA1788101616 | CHD7 | c.6047G= (p.Ser2016=) c.1717-9579G= (n.1717-9579G=) c.6137G= (p.Ser2046=) c.4124G= (p.Ser1375=) c.3674G= (p.Ser1225=) c.2882G= (p.Ser961=) | |
| 8 | g.60852650G>T | CA371324008 | CHD7 | c.6047G>T (p.Ser2016Ile) c.1717-9579G>T (n.1717-9579G>T) c.6137G>T (p.Ser2046Ile) c.4124G>T (p.Ser1375Ile) c.3674G>T (p.Ser1225Ile) c.2882G>T (p.Ser961Ile) | |
| 8 | g.60852651T>A | CA371324011 | CHD7 | c.6048T>A (p.Ser2016Arg) c.1717-9578T>A (n.1717-9578T>A) c.6138T>A (p.Ser2046Arg) c.4125T>A (p.Ser1375Arg) c.3675T>A (p.Ser1225Arg) c.2883T>A (p.Ser961Arg) | |
| 8 | g.60852651T>C | CA461105035 | CHD7 | c.6048T>C (p.Ser2016=) c.1717-9578T>C (n.1717-9578T>C) c.6138T>C (p.Ser2046=) c.4125T>C (p.Ser1375=) c.3675T>C (p.Ser1225=) c.2883T>C (p.Ser961=) | |
| 8 | g.60852651T>G | CA371324012 | CHD7 | c.6048T>G (p.Ser2016Arg) c.1717-9578T>G (n.1717-9578T>G) c.6138T>G (p.Ser2046Arg) c.4125T>G (p.Ser1375Arg) c.3675T>G (p.Ser1225Arg) c.2883T>G (p.Ser961Arg) | |
| 8 | g.60852652T>A | CA371324013 | CHD7 | c.6049T>A (p.Cys2017Ser) c.1717-9577T>A (n.1717-9577T>A) c.6139T>A (p.Cys2047Ser) c.4126T>A (p.Cys1376Ser) c.3676T>A (p.Cys1226Ser) c.2884T>A (p.Cys962Ser) | |
| 8 | g.60852652T>C | CA371324014 | CHD7 | c.6049T>C (p.Cys2017Arg) c.1717-9577T>C (n.1717-9577T>C) c.6139T>C (p.Cys2047Arg) c.4126T>C (p.Cys1376Arg) c.3676T>C (p.Cys1226Arg) c.2884T>C (p.Cys962Arg) | |
| 8 | g.60852652T>G | CA371324015 | CHD7 | c.6049T>G (p.Cys2017Gly) c.1717-9577T>G (n.1717-9577T>G) c.6139T>G (p.Cys2047Gly) c.4126T>G (p.Cys1376Gly) c.3676T>G (p.Cys1226Gly) c.2884T>G (p.Cys962Gly) | |
| 8 | g.60852653G>A | CA371324016 | CHD7 | c.6050G>A (p.Cys2017Tyr) c.1717-9576G>A (n.1717-9576G>A) c.6140G>A (p.Cys2047Tyr) c.4127G>A (p.Cys1376Tyr) c.3677G>A (p.Cys1226Tyr) c.2885G>A (p.Cys962Tyr) | |
| 8 | g.60852653G>C | CA371324017 | CHD7 | c.6050G>C (p.Cys2017Ser) c.1717-9576G>C (n.1717-9576G>C) c.6140G>C (p.Cys2047Ser) c.4127G>C (p.Cys1376Ser) c.3677G>C (p.Cys1226Ser) c.2885G>C (p.Cys962Ser) | |
| 8 | g.60852653G>T | CA371324018 | CHD7 | c.6050G>T (p.Cys2017Phe) c.1717-9576G>T (n.1717-9576G>T) c.6140G>T (p.Cys2047Phe) c.4127G>T (p.Cys1376Phe) c.3677G>T (p.Cys1226Phe) c.2885G>T (p.Cys962Phe) | |
| 8 | g.60852654T>A | CA371324019 | CHD7 | c.6051T>A (p.Cys2017Ter) c.1717-9575T>A (n.1717-9575T>A) c.6141T>A (p.Cys2047Ter) c.4128T>A (p.Cys1376Ter) c.3678T>A (p.Cys1226Ter) c.2886T>A (p.Cys962Ter) | |
| 8 | g.60852654T>C | CA461105036 | CHD7 | c.6051T>C (p.Cys2017=) c.1717-9575T>C (n.1717-9575T>C) c.6141T>C (p.Cys2047=) c.4128T>C (p.Cys1376=) c.3678T>C (p.Cys1226=) c.2886T>C (p.Cys962=) | |
| 8 | g.60852654T>G | CA371324020 | CHD7 | c.6051T>G (p.Cys2017Trp) c.1717-9575T>G (n.1717-9575T>G) c.6141T>G (p.Cys2047Trp) c.4128T>G (p.Cys1376Trp) c.3678T>G (p.Cys1226Trp) c.2886T>G (p.Cys962Trp) | |
| 8 | g.60852655T>A | CA371324021 | CHD7 | c.6052T>A (p.Phe2018Ile) c.1717-9574T>A (n.1717-9574T>A) c.6142T>A (p.Phe2048Ile) c.4129T>A (p.Phe1377Ile) c.3679T>A (p.Phe1227Ile) c.2887T>A (p.Phe963Ile) | |
| 8 | g.60852655T>C | CA371324022 | CHD7 | c.6052T>C (p.Phe2018Leu) c.1717-9574T>C (n.1717-9574T>C) c.6142T>C (p.Phe2048Leu) c.4129T>C (p.Phe1377Leu) c.3679T>C (p.Phe1227Leu) c.2887T>C (p.Phe963Leu) | |
| 8 | g.60852655T>G | CA371324023 | CHD7 | c.6052T>G (p.Phe2018Val) c.1717-9574T>G (n.1717-9574T>G) c.6142T>G (p.Phe2048Val) c.4129T>G (p.Phe1377Val) c.3679T>G (p.Phe1227Val) c.2887T>G (p.Phe963Val) | |
| 8 | g.60852656T>A | CA371324025 | CHD7 | c.6053T>A (p.Phe2018Tyr) c.1717-9573T>A (n.1717-9573T>A) c.6143T>A (p.Phe2048Tyr) c.4130T>A (p.Phe1377Tyr) c.3680T>A (p.Phe1227Tyr) c.2888T>A (p.Phe963Tyr) | |
| 8 | g.60852656T>C | CA371324026 | CHD7 | c.6053T>C (p.Phe2018Ser) c.1717-9573T>C (n.1717-9573T>C) c.6143T>C (p.Phe2048Ser) c.4130T>C (p.Phe1377Ser) c.3680T>C (p.Phe1227Ser) c.2888T>C (p.Phe963Ser) | |
| 8 | g.60852656T>G | CA371324024 | CHD7 | c.6053T>G (p.Phe2018Cys) c.1717-9573T>G (n.1717-9573T>G) c.6143T>G (p.Phe2048Cys) c.4130T>G (p.Phe1377Cys) c.3680T>G (p.Phe1227Cys) c.2888T>G (p.Phe963Cys) | |
| 8 | g.60852657T>A | CA371324027 | CHD7 | c.6054T>A (p.Phe2018Leu) c.1717-9572T>A (n.1717-9572T>A) c.6144T>A (p.Phe2048Leu) c.4131T>A (p.Phe1377Leu) c.3681T>A (p.Phe1227Leu) c.2889T>A (p.Phe963Leu) | |
| 8 | g.60852657T>C | CA4760509 | CHD7 | c.6054T>C (p.Phe2018=) c.1717-9572T>C (n.1717-9572T>C) c.6144T>C (p.Phe2048=) c.4131T>C (p.Phe1377=) c.3681T>C (p.Phe1227=) c.2889T>C (p.Phe963=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852657T>G | CA371324028 | CHD7 | c.6054T>G (p.Phe2018Leu) c.1717-9572T>G (n.1717-9572T>G) c.6144T>G (p.Phe2048Leu) c.4131T>G (p.Phe1377Leu) c.3681T>G (p.Phe1227Leu) c.2889T>G (p.Phe963Leu) | |
| 8 | g.60852657T= | CA1788101624 | CHD7 | c.6054T= (p.Phe2018=) c.1717-9572T= (n.1717-9572T=) c.6144T= (p.Phe2048=) c.4131T= (p.Phe1377=) c.3681T= (p.Phe1227=) c.2889T= (p.Phe963=) | |
| 8 | g.60852658G>A | CA371324029 | CHD7 | c.6055G>A (p.Val2019Met) c.1717-9571G>A (n.1717-9571G>A) c.6145G>A (p.Val2049Met) c.4132G>A (p.Val1378Met) c.3682G>A (p.Val1228Met) c.2890G>A (p.Val964Met) | |
| 8 | g.60852658G>C | CA371324030 | CHD7 | c.6055G>C (p.Val2019Leu) c.1717-9571G>C (n.1717-9571G>C) c.6145G>C (p.Val2049Leu) c.4132G>C (p.Val1378Leu) c.3682G>C (p.Val1228Leu) c.2890G>C (p.Val964Leu) | |
| 8 | g.60852658G>T | CA371324031 | CHD7 | c.6055G>T (p.Val2019Leu) c.1717-9571G>T (n.1717-9571G>T) c.6145G>T (p.Val2049Leu) c.4132G>T (p.Val1378Leu) c.3682G>T (p.Val1228Leu) c.2890G>T (p.Val964Leu) | |
| 8 | g.60852659T>A | CA371324032 | CHD7 | c.6056T>A (p.Val2019Glu) c.1717-9570T>A (n.1717-9570T>A) c.6146T>A (p.Val2049Glu) c.4133T>A (p.Val1378Glu) c.3683T>A (p.Val1228Glu) c.2891T>A (p.Val964Glu) | |
| 8 | g.60852659T>C | CA371324033 | CHD7 | c.6056T>C (p.Val2019Ala) c.1717-9570T>C (n.1717-9570T>C) c.6146T>C (p.Val2049Ala) c.4133T>C (p.Val1378Ala) c.3683T>C (p.Val1228Ala) c.2891T>C (p.Val964Ala) | |
| 8 | g.60852659T>G | CA371324034 | CHD7 | c.6056T>G (p.Val2019Gly) c.1717-9570T>G (n.1717-9570T>G) c.6146T>G (p.Val2049Gly) c.4133T>G (p.Val1378Gly) c.3683T>G (p.Val1228Gly) c.2891T>G (p.Val964Gly) | |
| 8 | g.60852660G>A | CA461105037 | CHD7 | c.6057G>A (p.Val2019=) c.1717-9569G>A (n.1717-9569G>A) c.6147G>A (p.Val2049=) c.4134G>A (p.Val1378=) c.3684G>A (p.Val1228=) c.2892G>A (p.Val964=) | gnomAD v4 |
| 8 | g.60852660G>C | CA461105038 | CHD7 | c.6057G>C (p.Val2019=) c.1717-9569G>C (n.1717-9569G>C) c.6147G>C (p.Val2049=) c.4134G>C (p.Val1378=) c.3684G>C (p.Val1228=) c.2892G>C (p.Val964=) | |
| 8 | g.60852660G>T | CA461105039 | CHD7 | c.6057G>T (p.Val2019=) c.1717-9569G>T (n.1717-9569G>T) c.6147G>T (p.Val2049=) c.4134G>T (p.Val1378=) c.3684G>T (p.Val1228=) c.2892G>T (p.Val964=) | |
| 8 | g.60852661G>A | CA371324035 | CHD7 | c.6058G>A (p.Ala2020Thr) c.1717-9568G>A (n.1717-9568G>A) c.6148G>A (p.Ala2050Thr) c.4135G>A (p.Ala1379Thr) c.3685G>A (p.Ala1229Thr) c.2893G>A (p.Ala965Thr) | |
| 8 | g.60852661G>C | CA371324036 | CHD7 | c.6058G>C (p.Ala2020Pro) c.1717-9568G>C (n.1717-9568G>C) c.6148G>C (p.Ala2050Pro) c.4135G>C (p.Ala1379Pro) c.3685G>C (p.Ala1229Pro) c.2893G>C (p.Ala965Pro) | gnomAD v4 |
| 8 | g.60852661G>T | CA371324037 | CHD7 | c.6058G>T (p.Ala2020Ser) c.1717-9568G>T (n.1717-9568G>T) c.6148G>T (p.Ala2050Ser) c.4135G>T (p.Ala1379Ser) c.3685G>T (p.Ala1229Ser) c.2893G>T (p.Ala965Ser) | |
| 8 | g.60852662C>A | CA371324039 | CHD7 | c.6059C>A (p.Ala2020Asp) c.1717-9567C>A (n.1717-9567C>A) c.6149C>A (p.Ala2050Asp) c.4136C>A (p.Ala1379Asp) c.3686C>A (p.Ala1229Asp) c.2894C>A (p.Ala965Asp) | |
| 8 | g.60852662C= | CA1788101636 | CHD7 | c.6059C= (p.Ala2020=) c.1717-9567C= (n.1717-9567C=) c.6149C= (p.Ala2050=) c.4136C= (p.Ala1379=) c.3686C= (p.Ala1229=) c.2894C= (p.Ala965=) | |
| 8 | g.60852662C>G | CA371324038 | CHD7 | c.6059C>G (p.Ala2020Gly) c.1717-9567C>G (n.1717-9567C>G) c.6149C>G (p.Ala2050Gly) c.4136C>G (p.Ala1379Gly) c.3686C>G (p.Ala1229Gly) c.2894C>G (p.Ala965Gly) | |
| 8 | g.60852662C>T | CA4760510 | CHD7 | c.6059C>T (p.Ala2020Val) c.1717-9567C>T (n.1717-9567C>T) c.6149C>T (p.Ala2050Val) c.4136C>T (p.Ala1379Val) c.3686C>T (p.Ala1229Val) c.2894C>T (p.Ala965Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852663C>A | CA461105040 | CHD7 | c.6060C>A (p.Ala2020=) c.1717-9566C>A (n.1717-9566C>A) c.6150C>A (p.Ala2050=) c.4137C>A (p.Ala1379=) c.3687C>A (p.Ala1229=) c.2895C>A (p.Ala965=) | |
| 8 | g.60852663C>G | CA461105041 | CHD7 | c.6060C>G (p.Ala2020=) c.1717-9566C>G (n.1717-9566C>G) c.6150C>G (p.Ala2050=) c.4137C>G (p.Ala1379=) c.3687C>G (p.Ala1229=) c.2895C>G (p.Ala965=) | |
| 8 | g.60852663C>T | CA461105042 | CHD7 | c.6060C>T (p.Ala2020=) c.1717-9566C>T (n.1717-9566C>T) c.6150C>T (p.Ala2050=) c.4137C>T (p.Ala1379=) c.3687C>T (p.Ala1229=) c.2895C>T (p.Ala965=) | |
| 8 | g.60852664A>C | CA371324040 | CHD7 | c.6061A>C (p.Met2021Leu) c.1717-9565A>C (n.1717-9565A>C) c.6151A>C (p.Met2051Leu) c.4138A>C (p.Met1380Leu) c.3688A>C (p.Met1230Leu) c.2896A>C (p.Met966Leu) | |
| 8 | g.60852664A>G | CA371324041 | CHD7 | c.6061A>G (p.Met2021Val) c.1717-9565A>G (n.1717-9565A>G) c.6151A>G (p.Met2051Val) c.4138A>G (p.Met1380Val) c.3688A>G (p.Met1230Val) c.2896A>G (p.Met966Val) | |
| 8 | g.60852664A>T | CA371324042 | CHD7 | c.6061A>T (p.Met2021Leu) c.1717-9565A>T (n.1717-9565A>T) c.6151A>T (p.Met2051Leu) c.4138A>T (p.Met1380Leu) c.3688A>T (p.Met1230Leu) c.2896A>T (p.Met966Leu) | gnomAD v4 |
| 8 | g.60852665T>A | CA371324043 | CHD7 | c.6062T>A (p.Met2021Lys) c.1717-9564T>A (n.1717-9564T>A) c.6152T>A (p.Met2051Lys) c.4139T>A (p.Met1380Lys) c.3689T>A (p.Met1230Lys) c.2897T>A (p.Met966Lys) | |
| 8 | g.60852665T>C | CA371324044 | CHD7 | c.6062T>C (p.Met2021Thr) c.1717-9564T>C (n.1717-9564T>C) c.6152T>C (p.Met2051Thr) c.4139T>C (p.Met1380Thr) c.3689T>C (p.Met1230Thr) c.2897T>C (p.Met966Thr) | gnomAD v4 |
| 8 | g.60852665T>G | CA371324045 | CHD7 | c.6062T>G (p.Met2021Arg) c.1717-9564T>G (n.1717-9564T>G) c.6152T>G (p.Met2051Arg) c.4139T>G (p.Met1380Arg) c.3689T>G (p.Met1230Arg) c.2897T>G (p.Met966Arg) | |
| 8 | g.60852666G>A | CA371324046 | CHD7 | c.6063G>A (p.Met2021Ile) c.1717-9563G>A (n.1717-9563G>A) c.6153G>A (p.Met2051Ile) c.4140G>A (p.Met1380Ile) c.3690G>A (p.Met1230Ile) c.2898G>A (p.Met966Ile) | |
| 8 | g.60852666G>C | CA371324047 | CHD7 | c.6063G>C (p.Met2021Ile) c.1717-9563G>C (n.1717-9563G>C) c.6153G>C (p.Met2051Ile) c.4140G>C (p.Met1380Ile) c.3690G>C (p.Met1230Ile) c.2898G>C (p.Met966Ile) | |
| 8 | g.60852666G>T | CA371324048 | CHD7 | c.6063G>T (p.Met2021Ile) c.1717-9563G>T (n.1717-9563G>T) c.6153G>T (p.Met2051Ile) c.4140G>T (p.Met1380Ile) c.3690G>T (p.Met1230Ile) c.2898G>T (p.Met966Ile) | |
| 8 | g.60852667T>A | CA371324049 | CHD7 | c.6064T>A (p.Cys2022Ser) c.1717-9562T>A (n.1717-9562T>A) c.6154T>A (p.Cys2052Ser) c.4141T>A (p.Cys1381Ser) c.3691T>A (p.Cys1231Ser) c.2899T>A (p.Cys967Ser) | |
| 8 | g.60852667T>C | CA371324050 | CHD7 | c.6064T>C (p.Cys2022Arg) c.1717-9562T>C (n.1717-9562T>C) c.6154T>C (p.Cys2052Arg) c.4141T>C (p.Cys1381Arg) c.3691T>C (p.Cys1231Arg) c.2899T>C (p.Cys967Arg) | |
| 8 | g.60852667T>G | CA371324051 | CHD7 | c.6064T>G (p.Cys2022Gly) c.1717-9562T>G (n.1717-9562T>G) c.6154T>G (p.Cys2052Gly) c.4141T>G (p.Cys1381Gly) c.3691T>G (p.Cys1231Gly) c.2899T>G (p.Cys967Gly) | |
| 8 | g.60852668G>A | CA371324053 | CHD7 | c.6065G>A (p.Cys2022Tyr) c.1717-9561G>A (n.1717-9561G>A) c.6155G>A (p.Cys2052Tyr) c.4142G>A (p.Cys1381Tyr) c.3692G>A (p.Cys1231Tyr) c.2900G>A (p.Cys967Tyr) | |
| 8 | g.60852668G>C | CA371324054 | CHD7 | c.6065G>C (p.Cys2022Ser) c.1717-9561G>C (n.1717-9561G>C) c.6155G>C (p.Cys2052Ser) c.4142G>C (p.Cys1381Ser) c.3692G>C (p.Cys1231Ser) c.2900G>C (p.Cys967Ser) | |
| 8 | g.60852668G>T | CA371324052 | CHD7 | c.6065G>T (p.Cys2022Phe) c.1717-9561G>T (n.1717-9561G>T) c.6155G>T (p.Cys2052Phe) c.4142G>T (p.Cys1381Phe) c.3692G>T (p.Cys1231Phe) c.2900G>T (p.Cys967Phe) | |
| 8 | g.60852669T>A | CA371324057 | CHD7 | c.6066T>A (p.Cys2022Ter) c.1717-9560T>A (n.1717-9560T>A) c.6156T>A (p.Cys2052Ter) c.4143T>A (p.Cys1381Ter) c.3693T>A (p.Cys1231Ter) c.2901T>A (p.Cys967Ter) | |
| 8 | g.60852669T>C | CA461104861 | CHD7 | c.6066T>C (p.Cys2022=) c.1717-9560T>C (n.1717-9560T>C) c.6156T>C (p.Cys2052=) c.4143T>C (p.Cys1381=) c.3693T>C (p.Cys1231=) c.2901T>C (p.Cys967=) | |
| 8 | g.60852669T>G | CA371324056 | CHD7 | c.6066T>G (p.Cys2022Trp) c.1717-9560T>G (n.1717-9560T>G) c.6156T>G (p.Cys2052Trp) c.4143T>G (p.Cys1381Trp) c.3693T>G (p.Cys1231Trp) c.2901T>G (p.Cys967Trp) | |
| 8 | g.60852670A>C | CA461104862 | CHD7 | c.6067A>C (p.Arg2023=) c.1717-9559A>C (n.1717-9559A>C) c.6157A>C (p.Arg2053=) c.4144A>C (p.Arg1382=) c.3694A>C (p.Arg1232=) c.2902A>C (p.Arg968=) | |
| 8 | g.60852670A>G | CA371324061 | CHD7 | c.6067A>G (p.Arg2023Gly) c.1717-9559A>G (n.1717-9559A>G) c.6157A>G (p.Arg2053Gly) c.4144A>G (p.Arg1382Gly) c.3694A>G (p.Arg1232Gly) c.2902A>G (p.Arg968Gly) | gnomAD v4 |
| 8 | g.60852670A>T | CA371324059 | CHD7 | c.6067A>T (p.Arg2023Trp) c.1717-9559A>T (n.1717-9559A>T) c.6157A>T (p.Arg2053Trp) c.4144A>T (p.Arg1382Trp) c.3694A>T (p.Arg1232Trp) c.2902A>T (p.Arg968Trp) | |
| 8 | g.60852671G>A | CA371324062 | CHD7 | c.6068G>A (p.Arg2023Lys) c.1717-9558G>A (n.1717-9558G>A) c.6158G>A (p.Arg2053Lys) c.4145G>A (p.Arg1382Lys) c.3695G>A (p.Arg1232Lys) c.2903G>A (p.Arg968Lys) | |
| 8 | g.60852671G>C | CA371324063 | CHD7 | c.6068G>C (p.Arg2023Thr) c.1717-9558G>C (n.1717-9558G>C) c.6158G>C (p.Arg2053Thr) c.4145G>C (p.Arg1382Thr) c.3695G>C (p.Arg1232Thr) c.2903G>C (p.Arg968Thr) | |
| 8 | g.60852671G= | CA1788101641 | CHD7 | c.6068G= (p.Arg2023=) c.1717-9558G= (n.1717-9558G=) c.6158G= (p.Arg2053=) c.4145G= (p.Arg1382=) c.3695G= (p.Arg1232=) c.2903G= (p.Arg968=) | |
| 8 | g.60852671G>T | CA4760511 | CHD7 | c.6068G>T (p.Arg2023Met) c.1717-9558G>T (n.1717-9558G>T) c.6158G>T (p.Arg2053Met) c.4145G>T (p.Arg1382Met) c.3695G>T (p.Arg1232Met) c.2903G>T (p.Arg968Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.60852672G>A | CA461104863 | CHD7 | c.6069G>A (p.Arg2023=) c.1717-9557G>A (n.1717-9557G>A) c.6159G>A (p.Arg2053=) c.4146G>A (p.Arg1382=) c.3696G>A (p.Arg1232=) c.2904G>A (p.Arg968=) | |
| 8 | g.60852672G>C | CA371324065 | CHD7 | c.6069G>C (p.Arg2023Ser) c.1717-9557G>C (n.1717-9557G>C) c.6159G>C (p.Arg2053Ser) c.4146G>C (p.Arg1382Ser) c.3696G>C (p.Arg1232Ser) c.2904G>C (p.Arg968Ser) | |
| 8 | g.60852672G>T | CA371324067 | CHD7 | c.6069G>T (p.Arg2023Ser) c.1717-9557G>T (n.1717-9557G>T) c.6159G>T (p.Arg2053Ser) c.4146G>T (p.Arg1382Ser) c.3696G>T (p.Arg1232Ser) c.2904G>T (p.Arg968Ser) | |
| 8 | g.60852672_60852677del | CA2553062448 | CHD7 | c.6069_6074del (p.Arg2024_Val2025del) c.1717-9557_1717-9552del (n.1717-9557_1717-9552del) c.6159_6164del (p.Arg2054_Val2055del) c.4146_4151del (p.Arg1383_Val1384del) c.3696_3701del (p.Arg1233_Val1234del) c.2904_2909del (p.Arg969_Val970del) | |
| 8 | g.60852673del | CA2695209402 | CHD7 | c.6070del (p.Arg2024GlufsTer19) c.1717-9556del (n.1717-9556del) c.6160del (p.Arg2054GlufsTer19) c.4147del (p.Arg1383GlufsTer19) c.3697del (p.Arg1233GlufsTer19) c.2905del (p.Arg969GlufsTer19) | |
| 8 | g.60852673C>A | CA461104864 | CHD7 | c.6070C>A (p.Arg2024=) c.1717-9556C>A (n.1717-9556C>A) c.6160C>A (p.Arg2054=) c.4147C>A (p.Arg1383=) c.3697C>A (p.Arg1233=) c.2905C>A (p.Arg969=) | |
| 8 | g.60852673C= | CA1788101654 | CHD7 | c.6070C= (p.Arg2024=) c.1717-9556C= (n.1717-9556C=) c.6160C= (p.Arg2054=) c.4147C= (p.Arg1383=) c.3697C= (p.Arg1233=) c.2905C= (p.Arg969=) | |
| 8 | g.60852673C>G | CA371324070 | CHD7 | c.6070C>G (p.Arg2024Gly) c.1717-9556C>G (n.1717-9556C>G) c.6160C>G (p.Arg2054Gly) c.4147C>G (p.Arg1383Gly) c.3697C>G (p.Arg1233Gly) c.2905C>G (p.Arg969Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852673C>T | CA371324068 | CHD7 | c.6070C>T (p.Arg2024Ter) c.1717-9556C>T (n.1717-9556C>T) c.6160C>T (p.Arg2054Ter) c.4147C>T (p.Arg1383Ter) c.3697C>T (p.Arg1233Ter) c.2905C>T (p.Arg969Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852674G>A | CA371324071 | CHD7 | c.6071G>A (p.Arg2024Gln) c.1717-9555G>A (n.1717-9555G>A) c.6161G>A (p.Arg2054Gln) c.4148G>A (p.Arg1383Gln) c.3698G>A (p.Arg1233Gln) c.2906G>A (p.Arg969Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852674G>C | CA371324072 | CHD7 | c.6071G>C (p.Arg2024Pro) c.1717-9555G>C (n.1717-9555G>C) c.6161G>C (p.Arg2054Pro) c.4148G>C (p.Arg1383Pro) c.3698G>C (p.Arg1233Pro) c.2906G>C (p.Arg969Pro) | |
| 8 | g.60852674G= | CA1788101660 | CHD7 | c.6071G= (p.Arg2024=) c.1717-9555G= (n.1717-9555G=) c.6161G= (p.Arg2054=) c.4148G= (p.Arg1383=) c.3698G= (p.Arg1233=) c.2906G= (p.Arg969=) | |
| 8 | g.60852674G>T | CA371324074 | CHD7 | c.6071G>T (p.Arg2024Leu) c.1717-9555G>T (n.1717-9555G>T) c.6161G>T (p.Arg2054Leu) c.4148G>T (p.Arg1383Leu) c.3698G>T (p.Arg1233Leu) c.2906G>T (p.Arg969Leu) | |
| 8 | g.60852675A>C | CA461104865 | CHD7 | c.6072A>C (p.Arg2024=) c.1717-9554A>C (n.1717-9554A>C) c.6162A>C (p.Arg2054=) c.4149A>C (p.Arg1383=) c.3699A>C (p.Arg1233=) c.2907A>C (p.Arg969=) | |
| 8 | g.60852675A>G | CA461104866 | CHD7 | c.6072A>G (p.Arg2024=) c.1717-9554A>G (n.1717-9554A>G) c.6162A>G (p.Arg2054=) c.4149A>G (p.Arg1383=) c.3699A>G (p.Arg1233=) c.2907A>G (p.Arg969=) | |
| 8 | g.60852675A>T | CA461104867 | CHD7 | c.6072A>T (p.Arg2024=) c.1717-9554A>T (n.1717-9554A>T) c.6162A>T (p.Arg2054=) c.4149A>T (p.Arg1383=) c.3699A>T (p.Arg1233=) c.2907A>T (p.Arg969=) | |
| 8 | g.60852676G>A | CA371324076 | CHD7 | c.6073G>A (p.Val2025Ile) c.1717-9553G>A (n.1717-9553G>A) c.6163G>A (p.Val2055Ile) c.4150G>A (p.Val1384Ile) c.3700G>A (p.Val1234Ile) c.2908G>A (p.Val970Ile) | |
| 8 | g.60852676G>C | CA371324078 | CHD7 | c.6073G>C (p.Val2025Leu) c.1717-9553G>C (n.1717-9553G>C) c.6163G>C (p.Val2055Leu) c.4150G>C (p.Val1384Leu) c.3700G>C (p.Val1234Leu) c.2908G>C (p.Val970Leu) | |
| 8 | g.60852676G>T | CA371324079 | CHD7 | c.6073G>T (p.Val2025Leu) c.1717-9553G>T (n.1717-9553G>T) c.6163G>T (p.Val2055Leu) c.4150G>T (p.Val1384Leu) c.3700G>T (p.Val1234Leu) c.2908G>T (p.Val970Leu) | |
| 8 | g.60852677T>A | CA371324080 | CHD7 | c.6074T>A (p.Val2025Glu) c.1717-9552T>A (n.1717-9552T>A) c.6164T>A (p.Val2055Glu) c.4151T>A (p.Val1384Glu) c.3701T>A (p.Val1234Glu) c.2909T>A (p.Val970Glu) | |
| 8 | g.60852677T>C | CA371324082 | CHD7 | c.6074T>C (p.Val2025Ala) c.1717-9552T>C (n.1717-9552T>C) c.6164T>C (p.Val2055Ala) c.4151T>C (p.Val1384Ala) c.3701T>C (p.Val1234Ala) c.2909T>C (p.Val970Ala) | gnomAD v4 |
| 8 | g.60852677T>G | CA371324081 | CHD7 | c.6074T>G (p.Val2025Gly) c.1717-9552T>G (n.1717-9552T>G) c.6164T>G (p.Val2055Gly) c.4151T>G (p.Val1384Gly) c.3701T>G (p.Val1234Gly) c.2909T>G (p.Val970Gly) | |
| 8 | g.60852678A= | CA1788101666 | CHD7 | c.6075A= (p.Val2025=) c.1717-9551A= (n.1717-9551A=) c.6165A= (p.Val2055=) c.4152A= (p.Val1384=) c.3702A= (p.Val1234=) c.2910A= (p.Val970=) | |
| 8 | g.60852678A>C | CA461104868 | CHD7 | c.6075A>C (p.Val2025=) c.1717-9551A>C (n.1717-9551A>C) c.6165A>C (p.Val2055=) c.4152A>C (p.Val1384=) c.3702A>C (p.Val1234=) c.2910A>C (p.Val970=) | |
| 8 | g.60852678A>G | CA461104869 | CHD7 | c.6075A>G (p.Val2025=) c.1717-9551A>G (n.1717-9551A>G) c.6165A>G (p.Val2055=) c.4152A>G (p.Val1384=) c.3702A>G (p.Val1234=) c.2910A>G (p.Val970=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852678A>T | CA461104870 | CHD7 | c.6075A>T (p.Val2025=) c.1717-9551A>T (n.1717-9551A>T) c.6165A>T (p.Val2055=) c.4152A>T (p.Val1384=) c.3702A>T (p.Val1234=) c.2910A>T (p.Val970=) | gnomAD v4 |
| 8 | g.60852679T>A | CA371324083 | CHD7 | c.6076T>A (p.Cys2026Ser) c.1717-9550T>A (n.1717-9550T>A) c.6166T>A (p.Cys2056Ser) c.4153T>A (p.Cys1385Ser) c.3703T>A (p.Cys1235Ser) c.2911T>A (p.Cys971Ser) | |
| 8 | g.60852679T>C | CA371324084 | CHD7 | c.6076T>C (p.Cys2026Arg) c.1717-9550T>C (n.1717-9550T>C) c.6166T>C (p.Cys2056Arg) c.4153T>C (p.Cys1385Arg) c.3703T>C (p.Cys1235Arg) c.2911T>C (p.Cys971Arg) | gnomAD v4 |
| 8 | g.60852679T>G | CA371324085 | CHD7 | c.6076T>G (p.Cys2026Gly) c.1717-9550T>G (n.1717-9550T>G) c.6166T>G (p.Cys2056Gly) c.4153T>G (p.Cys1385Gly) c.3703T>G (p.Cys1235Gly) c.2911T>G (p.Cys971Gly) | dbSNP gnomAD v4 |
| 8 | g.60852679T= | CA1788101667 | CHD7 | c.6076T= (p.Cys2026=) c.1717-9550T= (n.1717-9550T=) c.6166T= (p.Cys2056=) c.4153T= (p.Cys1385=) c.3703T= (p.Cys1235=) c.2911T= (p.Cys971=) | |
| 8 | g.60852679_60852690del | CA2687403946 | CHD7 | c.6076_6087del (p.Cys2026_Pro2029del) c.1717-9550_1717-9539del (n.1717-9550_1717-9539del) c.6166_6177del (p.Cys2056_Pro2059del) c.4153_4164del (p.Cys1385_Pro1388del) c.3703_3714del (p.Cys1235_Pro1238del) c.2911_2922del (p.Cys971_Pro974del) | gnomAD v4 |
| 8 | g.60852679_60852680insCTCGGTG | CA1114433805 | CHD7 | c.6076_6077insCTCGGTG (p.Cys2026SerfsTer11) c.1717-9550_1717-9549insCTCGGTG (n.1717-9550_1717-9549insCTCGGTG) c.6166_6167insCTCGGTG (p.Cys2056SerfsTer11) c.4153_4154insCTCGGTG (p.Cys1385SerfsTer11) c.3703_3704insCTCGGTG (p.Cys1235SerfsTer11) c.2911_2912insCTCGGTG (p.Cys971SerfsTer11) | gnomAD v3 gnomAD v4 |
| 8 | g.60852680G>A | CA177353964 | CHD7 | c.6077G>A (p.Cys2026Tyr) c.1717-9549G>A (n.1717-9549G>A) c.6167G>A (p.Cys2056Tyr) c.4154G>A (p.Cys1385Tyr) c.3704G>A (p.Cys1235Tyr) c.2912G>A (p.Cys971Tyr) | dbSNP |
| 8 | g.60852680G>C | CA371324088 | CHD7 | c.6077G>C (p.Cys2026Ser) c.1717-9549G>C (n.1717-9549G>C) c.6167G>C (p.Cys2056Ser) c.4154G>C (p.Cys1385Ser) c.3704G>C (p.Cys1235Ser) c.2912G>C (p.Cys971Ser) | |
| 8 | g.60852680G= | CA1788101675 | CHD7 | c.6077G= (p.Cys2026=) c.1717-9549G= (n.1717-9549G=) c.6167G= (p.Cys2056=) c.4154G= (p.Cys1385=) c.3704G= (p.Cys1235=) c.2912G= (p.Cys971=) | |
| 8 | g.60852680G>T | CA371324089 | CHD7 | c.6077G>T (p.Cys2026Phe) c.1717-9549G>T (n.1717-9549G>T) c.6167G>T (p.Cys2056Phe) c.4154G>T (p.Cys1385Phe) c.3704G>T (p.Cys1235Phe) c.2912G>T (p.Cys971Phe) | |
| 8 | g.60852681T>A | CA371324090 | CHD7 | c.6078T>A (p.Cys2026Ter) c.1717-9548T>A (n.1717-9548T>A) c.6168T>A (p.Cys2056Ter) c.4155T>A (p.Cys1385Ter) c.3705T>A (p.Cys1235Ter) c.2913T>A (p.Cys971Ter) | |
| 8 | g.60852681T>C | CA461104871 | CHD7 | c.6078T>C (p.Cys2026=) c.1717-9548T>C (n.1717-9548T>C) c.6168T>C (p.Cys2056=) c.4155T>C (p.Cys1385=) c.3705T>C (p.Cys1235=) c.2913T>C (p.Cys971=) | gnomAD v4 |
| 8 | g.60852681T>G | CA371324091 | CHD7 | c.6078T>G (p.Cys2026Trp) c.1717-9548T>G (n.1717-9548T>G) c.6168T>G (p.Cys2056Trp) c.4155T>G (p.Cys1385Trp) c.3705T>G (p.Cys1235Trp) c.2913T>G (p.Cys971Trp) | |
| 8 | g.60852682C>A | CA461104872 | CHD7 | c.6079C>A (p.Arg2027=) c.1717-9547C>A (n.1717-9547C>A) c.6169C>A (p.Arg2057=) c.4156C>A (p.Arg1386=) c.3706C>A (p.Arg1236=) c.2914C>A (p.Arg972=) | |
| 8 | g.60852682C= | CA1788101685 | CHD7 | c.6079C= (p.Arg2027=) c.1717-9547C= (n.1717-9547C=) c.6169C= (p.Arg2057=) c.4156C= (p.Arg1386=) c.3706C= (p.Arg1236=) c.2914C= (p.Arg972=) | |
| 8 | g.60852682C>G | CA371324092 | CHD7 | c.6079C>G (p.Arg2027Gly) c.1717-9547C>G (n.1717-9547C>G) c.6169C>G (p.Arg2057Gly) c.4156C>G (p.Arg1386Gly) c.3706C>G (p.Arg1236Gly) c.2914C>G (p.Arg972Gly) | |
| 8 | g.60852682C>T | CA10602502 | CHD7 | c.6079C>T (p.Arg2027Ter) c.1717-9547C>T (n.1717-9547C>T) c.6169C>T (p.Arg2057Ter) c.4156C>T (p.Arg1386Ter) c.3706C>T (p.Arg1236Ter) c.2914C>T (p.Arg972Ter) | ClinVar dbSNP COSMIC |
| 8 | g.60852683G>A | CA4760512 | CHD7 | c.6080G>A (p.Arg2027Gln) c.1717-9546G>A (n.1717-9546G>A) c.6170G>A (p.Arg2057Gln) c.4157G>A (p.Arg1386Gln) c.3707G>A (p.Arg1236Gln) c.2915G>A (p.Arg972Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852683G>C | CA371324097 | CHD7 | c.6080G>C (p.Arg2027Pro) c.1717-9546G>C (n.1717-9546G>C) c.6170G>C (p.Arg2057Pro) c.4157G>C (p.Arg1386Pro) c.3707G>C (p.Arg1236Pro) c.2915G>C (p.Arg972Pro) | |
| 8 | g.60852683G= | CA1788101693 | CHD7 | c.6080G= (p.Arg2027=) c.1717-9546G= (n.1717-9546G=) c.6170G= (p.Arg2057=) c.4157G= (p.Arg1386=) c.3707G= (p.Arg1236=) c.2915G= (p.Arg972=) | |
| 8 | g.60852683G>T | CA371324095 | CHD7 | c.6080G>T (p.Arg2027Leu) c.1717-9546G>T (n.1717-9546G>T) c.6170G>T (p.Arg2057Leu) c.4157G>T (p.Arg1386Leu) c.3707G>T (p.Arg1236Leu) c.2915G>T (p.Arg972Leu) | |
| 8 | g.60852684A>C | CA461104873 | CHD7 | c.6081A>C (p.Arg2027=) c.1717-9545A>C (n.1717-9545A>C) c.6171A>C (p.Arg2057=) c.4158A>C (p.Arg1386=) c.3708A>C (p.Arg1236=) c.2916A>C (p.Arg972=) | |
| 8 | g.60852684A>G | CA461104874 | CHD7 | c.6081A>G (p.Arg2027=) c.1717-9545A>G (n.1717-9545A>G) c.6171A>G (p.Arg2057=) c.4158A>G (p.Arg1386=) c.3708A>G (p.Arg1236=) c.2916A>G (p.Arg972=) | |
| 8 | g.60852684A>T | CA461104875 | CHD7 | c.6081A>T (p.Arg2027=) c.1717-9545A>T (n.1717-9545A>T) c.6171A>T (p.Arg2057=) c.4158A>T (p.Arg1386=) c.3708A>T (p.Arg1236=) c.2916A>T (p.Arg972=) | |
| 8 | g.60852684_60852688del | CA1114433818 | CHD7 | c.6081_6085del (p.Met2028ArgfsTer5) c.1717-9545_1717-9541del (n.1717-9545_1717-9541del) c.6171_6175del (p.Met2058ArgfsTer5) c.4158_4162del (p.Met1387ArgfsTer5) c.3708_3712del (p.Met1237ArgfsTer5) c.2916_2920del (p.Met973ArgfsTer5) | gnomAD v3 gnomAD v4 |
| 8 | g.60852685A>C | CA371324099 | CHD7 | c.6082A>C (p.Met2028Leu) c.1717-9544A>C (n.1717-9544A>C) c.6172A>C (p.Met2058Leu) c.4159A>C (p.Met1387Leu) c.3709A>C (p.Met1237Leu) c.2917A>C (p.Met973Leu) | |
| 8 | g.60852685A>G | CA371324100 | CHD7 | c.6082A>G (p.Met2028Val) c.1717-9544A>G (n.1717-9544A>G) c.6172A>G (p.Met2058Val) c.4159A>G (p.Met1387Val) c.3709A>G (p.Met1237Val) c.2917A>G (p.Met973Val) | |
| 8 | g.60852685A>T | CA371324102 | CHD7 | c.6082A>T (p.Met2028Leu) c.1717-9544A>T (n.1717-9544A>T) c.6172A>T (p.Met2058Leu) c.4159A>T (p.Met1387Leu) c.3709A>T (p.Met1237Leu) c.2917A>T (p.Met973Leu) | |
| 8 | g.60852686T>A | CA371324103 | CHD7 | c.6083T>A (p.Met2028Lys) c.1717-9543T>A (n.1717-9543T>A) c.6173T>A (p.Met2058Lys) c.4160T>A (p.Met1387Lys) c.3710T>A (p.Met1237Lys) c.2918T>A (p.Met973Lys) | |
| 8 | g.60852686T>C | CA371324104 | CHD7 | c.6083T>C (p.Met2028Thr) c.1717-9543T>C (n.1717-9543T>C) c.6173T>C (p.Met2058Thr) c.4160T>C (p.Met1387Thr) c.3710T>C (p.Met1237Thr) c.2918T>C (p.Met973Thr) | |
| 8 | g.60852686T>G | CA371324106 | CHD7 | c.6083T>G (p.Met2028Arg) c.1717-9543T>G (n.1717-9543T>G) c.6173T>G (p.Met2058Arg) c.4160T>G (p.Met1387Arg) c.3710T>G (p.Met1237Arg) c.2918T>G (p.Met973Arg) | |
| 8 | g.60852687G>A | CA371324107 | CHD7 | c.6084G>A (p.Met2028Ile) c.1717-9542G>A (n.1717-9542G>A) c.6174G>A (p.Met2058Ile) c.4161G>A (p.Met1387Ile) c.3711G>A (p.Met1237Ile) c.2919G>A (p.Met973Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852687G>C | CA371324108 | CHD7 | c.6084G>C (p.Met2028Ile) c.1717-9542G>C (n.1717-9542G>C) c.6174G>C (p.Met2058Ile) c.4161G>C (p.Met1387Ile) c.3711G>C (p.Met1237Ile) c.2919G>C (p.Met973Ile) | |
| 8 | g.60852687G= | CA1788101703 | CHD7 | c.6084G= (p.Met2028=) c.1717-9542G= (n.1717-9542G=) c.6174G= (p.Met2058=) c.4161G= (p.Met1387=) c.3711G= (p.Met1237=) c.2919G= (p.Met973=) | |
| 8 | g.60852687G>T | CA371324109 | CHD7 | c.6084G>T (p.Met2028Ile) c.1717-9542G>T (n.1717-9542G>T) c.6174G>T (p.Met2058Ile) c.4161G>T (p.Met1387Ile) c.3711G>T (p.Met1237Ile) c.2919G>T (p.Met973Ile) | |
| 8 | g.60852687_60852688delinsGC | CA1788101706 | CHD7 | c.6084_6085delinsGC (p.Met2028=) c.1717-9542_1717-9541delinsGC (n.1717-9542_1717-9541delinsGC) c.6174_6175delinsGC (p.Met2058=) c.4161_4162delinsGC (p.Met1387=) c.3711_3712delinsGC (p.Met1237=) c.2919_2920delinsGC (p.Met973=) | |
| 8 | g.60852688C>A | CA371324111 | CHD7 | c.6085C>A (p.Pro2029Thr) c.1717-9541C>A (n.1717-9541C>A) c.6175C>A (p.Pro2059Thr) c.4162C>A (p.Pro1388Thr) c.3712C>A (p.Pro1238Thr) c.2920C>A (p.Pro974Thr) | ClinVar dbSNP |
| 8 | g.60852688C= | CA1788101715 | CHD7 | c.6085C= (p.Pro2029=) c.1717-9541C= (n.1717-9541C=) c.6175C= (p.Pro2059=) c.4162C= (p.Pro1388=) c.3712C= (p.Pro1238=) c.2920C= (p.Pro974=) | |
| 8 | g.60852688C>G | CA371324112 | CHD7 | c.6085C>G (p.Pro2029Ala) c.1717-9541C>G (n.1717-9541C>G) c.6175C>G (p.Pro2059Ala) c.4162C>G (p.Pro1388Ala) c.3712C>G (p.Pro1238Ala) c.2920C>G (p.Pro974Ala) | |
| 8 | g.60852688C>T | CA371324113 | CHD7 | c.6085C>T (p.Pro2029Ser) c.1717-9541C>T (n.1717-9541C>T) c.6175C>T (p.Pro2059Ser) c.4162C>T (p.Pro1388Ser) c.3712C>T (p.Pro1238Ser) c.2920C>T (p.Pro974Ser) | gnomAD v4 |
| 8 | g.60852690del | CA1139660554 | CHD7 | c.6087del (p.Val2030SerfsTer13) c.1717-9539del (n.1717-9539del) c.6177del (p.Val2060SerfsTer13) c.4164del (p.Val1389SerfsTer13) c.3714del (p.Val1239SerfsTer13) c.2922del (p.Val975SerfsTer13) | ClinVar dbSNP |
| 8 | g.60852689C>A | CA371324116 | CHD7 | c.6086C>A (p.Pro2029His) c.1717-9540C>A (n.1717-9540C>A) c.6176C>A (p.Pro2059His) c.4163C>A (p.Pro1388His) c.3713C>A (p.Pro1238His) c.2921C>A (p.Pro974His) | |
| 8 | g.60852689C= | CA1788101720 | CHD7 | c.6086C= (p.Pro2029=) c.1717-9540C= (n.1717-9540C=) c.6176C= (p.Pro2059=) c.4163C= (p.Pro1388=) c.3713C= (p.Pro1238=) c.2921C= (p.Pro974=) | |
| 8 | g.60852689C>G | CA371324118 | CHD7 | c.6086C>G (p.Pro2029Arg) c.1717-9540C>G (n.1717-9540C>G) c.6176C>G (p.Pro2059Arg) c.4163C>G (p.Pro1388Arg) c.3713C>G (p.Pro1238Arg) c.2921C>G (p.Pro974Arg) | |
| 8 | g.60852689C>T | CA371324115 | CHD7 | c.6086C>T (p.Pro2029Leu) c.1717-9540C>T (n.1717-9540C>T) c.6176C>T (p.Pro2059Leu) c.4163C>T (p.Pro1388Leu) c.3713C>T (p.Pro1238Leu) c.2921C>T (p.Pro974Leu) | dbSNP |
| 8 | g.60852690C>A | CA4760513 | CHD7 | c.6087C>A (p.Pro2029=) c.1717-9539C>A (n.1717-9539C>A) c.6177C>A (p.Pro2059=) c.4164C>A (p.Pro1388=) c.3714C>A (p.Pro1238=) c.2922C>A (p.Pro974=) | dbSNP ExAC |
| 8 | g.60852690C= | CA1788101727 | CHD7 | c.6087C= (p.Pro2029=) c.1717-9539C= (n.1717-9539C=) c.6177C= (p.Pro2059=) c.4164C= (p.Pro1388=) c.3714C= (p.Pro1238=) c.2922C= (p.Pro974=) | |
| 8 | g.60852690C>G | CA461104876 | CHD7 | c.6087C>G (p.Pro2029=) c.1717-9539C>G (n.1717-9539C>G) c.6177C>G (p.Pro2059=) c.4164C>G (p.Pro1388=) c.3714C>G (p.Pro1238=) c.2922C>G (p.Pro974=) | |
| 8 | g.60852690C>T | CA4760514 | CHD7 | c.6087C>T (p.Pro2029=) c.1717-9539C>T (n.1717-9539C>T) c.6177C>T (p.Pro2059=) c.4164C>T (p.Pro1388=) c.3714C>T (p.Pro1238=) c.2922C>T (p.Pro974=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852691G>A | CA4760515 | CHD7 | c.6088G>A (p.Val2030Ile) c.1717-9538G>A (n.1717-9538G>A) c.6178G>A (p.Val2060Ile) c.4165G>A (p.Val1389Ile) c.3715G>A (p.Val1239Ile) c.2923G>A (p.Val975Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852691G>C | CA371324121 | CHD7 | c.6088G>C (p.Val2030Leu) c.1717-9538G>C (n.1717-9538G>C) c.6178G>C (p.Val2060Leu) c.4165G>C (p.Val1389Leu) c.3715G>C (p.Val1239Leu) c.2923G>C (p.Val975Leu) | gnomAD v4 |
| 8 | g.60852691G= | CA1788101735 | CHD7 | c.6088G= (p.Val2030=) c.1717-9538G= (n.1717-9538G=) c.6178G= (p.Val2060=) c.4165G= (p.Val1389=) c.3715G= (p.Val1239=) c.2923G= (p.Val975=) | |
| 8 | g.60852691G>T | CA371324123 | CHD7 | c.6088G>T (p.Val2030Phe) c.1717-9538G>T (n.1717-9538G>T) c.6178G>T (p.Val2060Phe) c.4165G>T (p.Val1389Phe) c.3715G>T (p.Val1239Phe) c.2923G>T (p.Val975Phe) | |
| 8 | g.60852692T>A | CA371324127 | CHD7 | c.6089T>A (p.Val2030Asp) c.1717-9537T>A (n.1717-9537T>A) c.6179T>A (p.Val2060Asp) c.4166T>A (p.Val1389Asp) c.3716T>A (p.Val1239Asp) c.2924T>A (p.Val975Asp) | |
| 8 | g.60852692T>C | CA371324124 | CHD7 | c.6089T>C (p.Val2030Ala) c.1717-9537T>C (n.1717-9537T>C) c.6179T>C (p.Val2060Ala) c.4166T>C (p.Val1389Ala) c.3716T>C (p.Val1239Ala) c.2924T>C (p.Val975Ala) | |
| 8 | g.60852692T>G | CA371324126 | CHD7 | c.6089T>G (p.Val2030Gly) c.1717-9537T>G (n.1717-9537T>G) c.6179T>G (p.Val2060Gly) c.4166T>G (p.Val1389Gly) c.3716T>G (p.Val1239Gly) c.2924T>G (p.Val975Gly) | |
| 8 | g.60852692_60852693insAT | CA1114433841 | CHD7 | c.6089_6090insAT (p.Lys2031SerfsTer13) c.1717-9537_1717-9536insAT (n.1717-9537_1717-9536insAT) c.6179_6180insAT (p.Lys2061SerfsTer13) c.4166_4167insAT (p.Lys1390SerfsTer13) c.3716_3717insAT (p.Lys1240SerfsTer13) c.2924_2925insAT (p.Lys976SerfsTer13) | gnomAD v3 gnomAD v4 |
| 8 | g.60852693C>A | CA461104877 | CHD7 | c.6090C>A (p.Val2030=) c.1717-9536C>A (n.1717-9536C>A) c.6180C>A (p.Val2060=) c.4167C>A (p.Val1389=) c.3717C>A (p.Val1239=) c.2925C>A (p.Val975=) | ClinVar dbSNP |
| 8 | g.60852693C>G | CA461104878 | CHD7 | c.6090C>G (p.Val2030=) c.1717-9536C>G (n.1717-9536C>G) c.6180C>G (p.Val2060=) c.4167C>G (p.Val1389=) c.3717C>G (p.Val1239=) c.2925C>G (p.Val975=) | |
| 8 | g.60852693C>T | CA461104879 | CHD7 | c.6090C>T (p.Val2030=) c.1717-9536C>T (n.1717-9536C>T) c.6180C>T (p.Val2060=) c.4167C>T (p.Val1389=) c.3717C>T (p.Val1239=) c.2925C>T (p.Val975=) | |
| 8 | g.60852694A>C | CA371324128 | CHD7 | c.6091A>C (p.Lys2031Gln) c.1717-9535A>C (n.1717-9535A>C) c.6181A>C (p.Lys2061Gln) c.4168A>C (p.Lys1390Gln) c.3718A>C (p.Lys1240Gln) c.2926A>C (p.Lys976Gln) | |
| 8 | g.60852694A>G | CA371324130 | CHD7 | c.6091A>G (p.Lys2031Glu) c.1717-9535A>G (n.1717-9535A>G) c.6181A>G (p.Lys2061Glu) c.4168A>G (p.Lys1390Glu) c.3718A>G (p.Lys1240Glu) c.2926A>G (p.Lys976Glu) | gnomAD v4 |
| 8 | g.60852694A>T | CA371324132 | CHD7 | c.6091A>T (p.Lys2031Ter) c.1717-9535A>T (n.1717-9535A>T) c.6181A>T (p.Lys2061Ter) c.4168A>T (p.Lys1390Ter) c.3718A>T (p.Lys1240Ter) c.2926A>T (p.Lys976Ter) | |
| 8 | g.60852694_60852695insTTAAA | CA1114433845 | CHD7 | c.6091_6092insTTAAA (p.Lys2031IlefsTer14) c.1717-9535_1717-9534insTTAAA (n.1717-9535_1717-9534insTTAAA) c.6181_6182insTTAAA (p.Lys2061IlefsTer14) c.4168_4169insTTAAA (p.Lys1390IlefsTer14) c.3718_3719insTTAAA (p.Lys1240IlefsTer14) c.2926_2927insTTAAA (p.Lys976IlefsTer14) | gnomAD v3 gnomAD v4 |
| 8 | g.60852695A>C | CA371324133 | CHD7 | c.6092A>C (p.Lys2031Thr) c.1717-9534A>C (n.1717-9534A>C) c.6182A>C (p.Lys2061Thr) c.4169A>C (p.Lys1390Thr) c.3719A>C (p.Lys1240Thr) c.2927A>C (p.Lys976Thr) | |
| 8 | g.60852695A>G | CA371324134 | CHD7 | c.6092A>G (p.Lys2031Arg) c.1717-9534A>G (n.1717-9534A>G) c.6182A>G (p.Lys2061Arg) c.4169A>G (p.Lys1390Arg) c.3719A>G (p.Lys1240Arg) c.2927A>G (p.Lys976Arg) | |
| 8 | g.60852695A>T | CA371324136 | CHD7 | c.6092A>T (p.Lys2031Met) c.1717-9534A>T (n.1717-9534A>T) c.6182A>T (p.Lys2061Met) c.4169A>T (p.Lys1390Met) c.3719A>T (p.Lys1240Met) c.2927A>T (p.Lys976Met) | |
| 8 | g.60852696G>A | CA461104880 | CHD7 | c.6093G>A (p.Lys2031=) c.1717-9533G>A (n.1717-9533G>A) c.6183G>A (p.Lys2061=) c.4170G>A (p.Lys1390=) c.3720G>A (p.Lys1240=) c.2928G>A (p.Lys976=) | gnomAD v4 |
| 8 | g.60852696G>C | CA371324137 | CHD7 | c.6093G>C (p.Lys2031Asn) c.1717-9533G>C (n.1717-9533G>C) c.6183G>C (p.Lys2061Asn) c.4170G>C (p.Lys1390Asn) c.3720G>C (p.Lys1240Asn) c.2928G>C (p.Lys976Asn) | |
| 8 | g.60852696G>T | CA371324139 | CHD7 | c.6093G>T (p.Lys2031Asn) c.1717-9533G>T (n.1717-9533G>T) c.6183G>T (p.Lys2061Asn) c.4170G>T (p.Lys1390Asn) c.3720G>T (p.Lys1240Asn) c.2928G>T (p.Lys976Asn) | |
| 8 | g.60852696_60852698del | CA1114433941 | CHD7 | c.6093_6095del (p.Pro2032del) c.1717-9533_1717-9531del (n.1717-9533_1717-9531del) c.6183_6185del (p.Pro2062del) c.4170_4172del (p.Pro1391del) c.3720_3722del (p.Pro1241del) c.2928_2930del (p.Pro977del) | gnomAD v3 gnomAD v4 |
| 8 | g.60852697C>A | CA371324140 | CHD7 | c.6094C>A (p.Pro2032Thr) c.1717-9532C>A (n.1717-9532C>A) c.6184C>A (p.Pro2062Thr) c.4171C>A (p.Pro1391Thr) c.3721C>A (p.Pro1241Thr) c.2929C>A (p.Pro977Thr) | |
| 8 | g.60852697C>G | CA371324143 | CHD7 | c.6094C>G (p.Pro2032Ala) c.1717-9532C>G (n.1717-9532C>G) c.6184C>G (p.Pro2062Ala) c.4171C>G (p.Pro1391Ala) c.3721C>G (p.Pro1241Ala) c.2929C>G (p.Pro977Ala) | gnomAD v4 |
| 8 | g.60852697C>T | CA371324142 | CHD7 | c.6094C>T (p.Pro2032Ser) c.1717-9532C>T (n.1717-9532C>T) c.6184C>T (p.Pro2062Ser) c.4171C>T (p.Pro1391Ser) c.3721C>T (p.Pro1241Ser) c.2929C>T (p.Pro977Ser) | gnomAD v4 |
| 8 | g.60852698C>A | CA371324144 | CHD7 | c.6095C>A (p.Pro2032Gln) c.1717-9531C>A (n.1717-9531C>A) c.6185C>A (p.Pro2062Gln) c.4172C>A (p.Pro1391Gln) c.3722C>A (p.Pro1241Gln) c.2930C>A (p.Pro977Gln) | |
| 8 | g.60852698C= | CA1788101749 | CHD7 | c.6095C= (p.Pro2032=) c.1717-9531C= (n.1717-9531C=) c.6185C= (p.Pro2062=) c.4172C= (p.Pro1391=) c.3722C= (p.Pro1241=) c.2930C= (p.Pro977=) | |
| 8 | g.60852698C>G | CA371324145 | CHD7 | c.6095C>G (p.Pro2032Arg) c.1717-9531C>G (n.1717-9531C>G) c.6185C>G (p.Pro2062Arg) c.4172C>G (p.Pro1391Arg) c.3722C>G (p.Pro1241Arg) c.2930C>G (p.Pro977Arg) | dbSNP |
| 8 | g.60852698C>T | CA371324146 | CHD7 | c.6095C>T (p.Pro2032Leu) c.1717-9531C>T (n.1717-9531C>T) c.6185C>T (p.Pro2062Leu) c.4172C>T (p.Pro1391Leu) c.3722C>T (p.Pro1241Leu) c.2930C>T (p.Pro977Leu) | |
| 8 | g.60852699A= | CA1788101754 | CHD7 | c.6096A= (p.Pro2032=) c.1717-9530A= (n.1717-9530A=) c.6186A= (p.Pro2062=) c.4173A= (p.Pro1391=) c.3723A= (p.Pro1241=) c.2931A= (p.Pro977=) | |
| 8 | g.60852699A>C | CA461104881 | CHD7 | c.6096A>C (p.Pro2032=) c.1717-9530A>C (n.1717-9530A>C) c.6186A>C (p.Pro2062=) c.4173A>C (p.Pro1391=) c.3723A>C (p.Pro1241=) c.2931A>C (p.Pro977=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852699A>G | CA461104883 | CHD7 | c.6096A>G (p.Pro2032=) c.1717-9530A>G (n.1717-9530A>G) c.6186A>G (p.Pro2062=) c.4173A>G (p.Pro1391=) c.3723A>G (p.Pro1241=) c.2931A>G (p.Pro977=) | |
| 8 | g.60852699A>T | CA461104882 | CHD7 | c.6096A>T (p.Pro2032=) c.1717-9530A>T (n.1717-9530A>T) c.6186A>T (p.Pro2062=) c.4173A>T (p.Pro1391=) c.3723A>T (p.Pro1241=) c.2931A>T (p.Pro977=) | |
| 8 | g.60852700G>A | CA371324147 | CHD7 | c.6097G>A (p.Asp2033Asn) c.1717-9529G>A (n.1717-9529G>A) c.6187G>A (p.Asp2063Asn) c.4174G>A (p.Asp1392Asn) c.3724G>A (p.Asp1242Asn) c.2932G>A (p.Asp978Asn) | gnomAD v3 gnomAD v4 |
| 8 | g.60852700G>C | CA371324149 | CHD7 | c.6097G>C (p.Asp2033His) c.1717-9529G>C (n.1717-9529G>C) c.6187G>C (p.Asp2063His) c.4174G>C (p.Asp1392His) c.3724G>C (p.Asp1242His) c.2932G>C (p.Asp978His) | COSMIC |
| 8 | g.60852700G>T | CA371324150 | CHD7 | c.6097G>T (p.Asp2033Tyr) c.1717-9529G>T (n.1717-9529G>T) c.6187G>T (p.Asp2063Tyr) c.4174G>T (p.Asp1392Tyr) c.3724G>T (p.Asp1242Tyr) c.2932G>T (p.Asp978Tyr) | |
| 8 | g.60852701A= | CA1788101769 | CHD7 | c.6098A= (p.Asp2033=) c.1717-9528A= (n.1717-9528A=) c.6188A= (p.Asp2063=) c.4175A= (p.Asp1392=) c.3725A= (p.Asp1242=) c.2933A= (p.Asp978=) | |
| 8 | g.60852701A>C | CA371324152 | CHD7 | c.6098A>C (p.Asp2033Ala) c.1717-9528A>C (n.1717-9528A>C) c.6188A>C (p.Asp2063Ala) c.4175A>C (p.Asp1392Ala) c.3725A>C (p.Asp1242Ala) c.2933A>C (p.Asp978Ala) | |
| 8 | g.60852701A>G | CA4760516 | CHD7 | c.6098A>G (p.Asp2033Gly) c.1717-9528A>G (n.1717-9528A>G) c.6188A>G (p.Asp2063Gly) c.4175A>G (p.Asp1392Gly) c.3725A>G (p.Asp1242Gly) c.2933A>G (p.Asp978Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852701A>T | CA371324154 | CHD7 | c.6098A>T (p.Asp2033Val) c.1717-9528A>T (n.1717-9528A>T) c.6188A>T (p.Asp2063Val) c.4175A>T (p.Asp1392Val) c.3725A>T (p.Asp1242Val) c.2933A>T (p.Asp978Val) | |
| 8 | g.60852702T>A | CA371324155 | CHD7 | c.6099T>A (p.Asp2033Glu) c.1717-9527T>A (n.1717-9527T>A) c.6189T>A (p.Asp2063Glu) c.4176T>A (p.Asp1392Glu) c.3726T>A (p.Asp1242Glu) c.2934T>A (p.Asp978Glu) | |
| 8 | g.60852702T>C | CA461104884 | CHD7 | c.6099T>C (p.Asp2033=) c.1717-9527T>C (n.1717-9527T>C) c.6189T>C (p.Asp2063=) c.4176T>C (p.Asp1392=) c.3726T>C (p.Asp1242=) c.2934T>C (p.Asp978=) | |
| 8 | g.60852702T>G | CA371324157 | CHD7 | c.6099T>G (p.Asp2033Glu) c.1717-9527T>G (n.1717-9527T>G) c.6189T>G (p.Asp2063Glu) c.4176T>G (p.Asp1392Glu) c.3726T>G (p.Asp1242Glu) c.2934T>G (p.Asp978Glu) | |
| 8 | g.60852703G>A | CA371324160 | CHD7 | c.6100G>A (p.Asp2034Asn) c.1717-9526G>A (n.1717-9526G>A) c.6190G>A (p.Asp2064Asn) c.4177G>A (p.Asp1393Asn) c.3727G>A (p.Asp1243Asn) c.2935G>A (p.Asp979Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852703G>C | CA371324158 | CHD7 | c.6100G>C (p.Asp2034His) c.1717-9526G>C (n.1717-9526G>C) c.6190G>C (p.Asp2064His) c.4177G>C (p.Asp1393His) c.3727G>C (p.Asp1243His) c.2935G>C (p.Asp979His) | |
| 8 | g.60852703G= | CA1788101773 | CHD7 | c.6100G= (p.Asp2034=) c.1717-9526G= (n.1717-9526G=) c.6190G= (p.Asp2064=) c.4177G= (p.Asp1393=) c.3727G= (p.Asp1243=) c.2935G= (p.Asp979=) | |
| 8 | g.60852703G>T | CA371324159 | CHD7 | c.6100G>T (p.Asp2034Tyr) c.1717-9526G>T (n.1717-9526G>T) c.6190G>T (p.Asp2064Tyr) c.4177G>T (p.Asp1393Tyr) c.3727G>T (p.Asp1243Tyr) c.2935G>T (p.Asp979Tyr) | |
| 8 | g.60852704A>C | CA371324161 | CHD7 | c.6101A>C (p.Asp2034Ala) c.1717-9525A>C (n.1717-9525A>C) c.6191A>C (p.Asp2064Ala) c.4178A>C (p.Asp1393Ala) c.3728A>C (p.Asp1243Ala) c.2936A>C (p.Asp979Ala) | |
| 8 | g.60852704A>G | CA371324162 | CHD7 | c.6101A>G (p.Asp2034Gly) c.1717-9525A>G (n.1717-9525A>G) c.6191A>G (p.Asp2064Gly) c.4178A>G (p.Asp1393Gly) c.3728A>G (p.Asp1243Gly) c.2936A>G (p.Asp979Gly) | |
| 8 | g.60852704A>T | CA371324163 | CHD7 | c.6101A>T (p.Asp2034Val) c.1717-9525A>T (n.1717-9525A>T) c.6191A>T (p.Asp2064Val) c.4178A>T (p.Asp1393Val) c.3728A>T (p.Asp1243Val) c.2936A>T (p.Asp979Val) | |
| 8 | g.60852705T>A | CA371324165 | CHD7 | c.6102T>A (p.Asp2034Glu) c.1717-9524T>A (n.1717-9524T>A) c.6192T>A (p.Asp2064Glu) c.4179T>A (p.Asp1393Glu) c.3729T>A (p.Asp1243Glu) c.2937T>A (p.Asp979Glu) | |
| 8 | g.60852705T>C | CA461104885 | CHD7 | c.6102T>C (p.Asp2034=) c.1717-9524T>C (n.1717-9524T>C) c.6192T>C (p.Asp2064=) c.4179T>C (p.Asp1393=) c.3729T>C (p.Asp1243=) c.2937T>C (p.Asp979=) | |
| 8 | g.60852705T>G | CA371324166 | CHD7 | c.6102T>G (p.Asp2034Glu) c.1717-9524T>G (n.1717-9524T>G) c.6192T>G (p.Asp2064Glu) c.4179T>G (p.Asp1393Glu) c.3729T>G (p.Asp1243Glu) c.2937T>G (p.Asp979Glu) | |
| 8 | g.60852705_60852706dup | CA2573053044 | CHD7 | c.6102_6103dup (p.Glu2035ValfsTer9) c.1717-9524_1717-9523dup (n.1717-9524_1717-9523dup) c.6192_6193dup (p.Glu2065ValfsTer9) c.4179_4180dup (p.Glu1394ValfsTer9) c.3729_3730dup (p.Glu1244ValfsTer9) c.2937_2938dup (p.Glu980ValfsTer9) | ClinVar dbSNP |
| 8 | g.60852706G>A | CA371324168 | CHD7 | c.6103G>A (p.Glu2035Lys) c.1717-9523G>A (n.1717-9523G>A) c.6193G>A (p.Glu2065Lys) c.4180G>A (p.Glu1394Lys) c.3730G>A (p.Glu1244Lys) c.2938G>A (p.Glu980Lys) | |
| 8 | g.60852706G>C | CA371324169 | CHD7 | c.6103G>C (p.Glu2035Gln) c.1717-9523G>C (n.1717-9523G>C) c.6193G>C (p.Glu2065Gln) c.4180G>C (p.Glu1394Gln) c.3730G>C (p.Glu1244Gln) c.2938G>C (p.Glu980Gln) | |
| 8 | g.60852706G>T | CA371324170 | CHD7 | c.6103G>T (p.Glu2035Ter) c.1717-9523G>T (n.1717-9523G>T) c.6193G>T (p.Glu2065Ter) c.4180G>T (p.Glu1394Ter) c.3730G>T (p.Glu1244Ter) c.2938G>T (p.Glu980Ter) | |
| 8 | g.60852707G>A | CA371324172 | CHD7 | c.6103+1G>A (n.6103+1G>A) c.1717-9522G>A (n.1717-9522G>A) c.6193+1G>A (n.6193+1G>A) c.4180+1G>A (n.4180+1G>A) c.3730+1G>A (n.3730+1G>A) c.2938+1G>A (n.2938+1G>A) | dbSNP |
| 8 | g.60852707G>C | CA371324173 | CHD7 | c.6103+1G>C (n.6103+1G>C) c.1717-9522G>C (n.1717-9522G>C) c.6193+1G>C (n.6193+1G>C) c.4180+1G>C (n.4180+1G>C) c.3730+1G>C (n.3730+1G>C) c.2938+1G>C (n.2938+1G>C) | |
| 8 | g.60852707G>T | CA371324175 | CHD7 | c.6103+1G>T (n.6103+1G>T) c.1717-9522G>T (n.1717-9522G>T) c.6193+1G>T (n.6193+1G>T) c.4180+1G>T (n.4180+1G>T) c.3730+1G>T (n.3730+1G>T) c.2938+1G>T (n.2938+1G>T) | |
| 8 | g.60852708T>A | CA371324178 | CHD7 | c.6103+2T>A (n.6103+2T>A) c.1717-9521T>A (n.1717-9521T>A) c.6193+2T>A (n.6193+2T>A) c.4180+2T>A (n.4180+2T>A) c.3730+2T>A (n.3730+2T>A) c.2938+2T>A (n.2938+2T>A) | |
| 8 | g.60852708T>C | CA371324179 | CHD7 | c.6103+2T>C (n.6103+2T>C) c.1717-9521T>C (n.1717-9521T>C) c.6193+2T>C (n.6193+2T>C) c.4180+2T>C (n.4180+2T>C) c.3730+2T>C (n.3730+2T>C) c.2938+2T>C (n.2938+2T>C) | ClinVar |
| 8 | g.60852708T>G | CA371324177 | CHD7 | c.6103+2T>G (n.6103+2T>G) c.1717-9521T>G (n.1717-9521T>G) c.6193+2T>G (n.6193+2T>G) c.4180+2T>G (n.4180+2T>G) c.3730+2T>G (n.3730+2T>G) c.2938+2T>G (n.2938+2T>G) |