| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60853093C>A | CA371324927 | CHD7 | c.6368C>A (p.Ser2123Tyr) c.1717-9136C>A (n.1717-9136C>A) c.6458C>A (p.Ser2153Tyr) c.4445C>A (p.Ser1482Tyr) c.3995C>A (p.Ser1332Tyr) c.3203C>A (p.Ser1068Tyr) | |
| 8 | g.60853093C>G | CA371324929 | CHD7 | c.6368C>G (p.Ser2123Cys) c.1717-9136C>G (n.1717-9136C>G) c.6458C>G (p.Ser2153Cys) c.4445C>G (p.Ser1482Cys) c.3995C>G (p.Ser1332Cys) c.3203C>G (p.Ser1068Cys) | |
| 8 | g.60853093C>T | CA371324930 | CHD7 | c.6368C>T (p.Ser2123Phe) c.1717-9136C>T (n.1717-9136C>T) c.6458C>T (p.Ser2153Phe) c.4445C>T (p.Ser1482Phe) c.3995C>T (p.Ser1332Phe) c.3203C>T (p.Ser1068Phe) | COSMIC |
| 8 | g.60853094C>A | CA461105307 | CHD7 | c.6369C>A (p.Ser2123=) c.1717-9135C>A (n.1717-9135C>A) c.6459C>A (p.Ser2153=) c.4446C>A (p.Ser1482=) c.3996C>A (p.Ser1332=) c.3204C>A (p.Ser1068=) | |
| 8 | g.60853094C= | CA1788103650 | CHD7 | c.6369C= (p.Ser2123=) c.1717-9135C= (n.1717-9135C=) c.6459C= (p.Ser2153=) c.4446C= (p.Ser1482=) c.3996C= (p.Ser1332=) c.3204C= (p.Ser1068=) | |
| 8 | g.60853094C>G | CA461105308 | CHD7 | c.6369C>G (p.Ser2123=) c.1717-9135C>G (n.1717-9135C>G) c.6459C>G (p.Ser2153=) c.4446C>G (p.Ser1482=) c.3996C>G (p.Ser1332=) c.3204C>G (p.Ser1068=) | |
| 8 | g.60853094C>T | CA461105310 | CHD7 | c.6369C>T (p.Ser2123=) c.1717-9135C>T (n.1717-9135C>T) c.6459C>T (p.Ser2153=) c.4446C>T (p.Ser1482=) c.3996C>T (p.Ser1332=) c.3204C>T (p.Ser1068=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853097_60853099del | CA2697549948 | CHD7 | c.6372_6374del (p.Phe2124del) c.1717-9132_1717-9130del (n.1717-9132_1717-9130del) c.6462_6464del (p.Phe2154del) c.4449_4451del (p.Phe1483del) c.3999_4001del (p.Phe1333del) c.3207_3209del (p.Phe1069del) | ClinVar |
| 8 | g.60853095T>A | CA371324933 | CHD7 | c.6370T>A (p.Phe2124Ile) c.1717-9134T>A (n.1717-9134T>A) c.6460T>A (p.Phe2154Ile) c.4447T>A (p.Phe1483Ile) c.3997T>A (p.Phe1333Ile) c.3205T>A (p.Phe1069Ile) | |
| 8 | g.60853095T>C | CA371324934 | CHD7 | c.6370T>C (p.Phe2124Leu) c.1717-9134T>C (n.1717-9134T>C) c.6460T>C (p.Phe2154Leu) c.4447T>C (p.Phe1483Leu) c.3997T>C (p.Phe1333Leu) c.3205T>C (p.Phe1069Leu) | gnomAD v4 |
| 8 | g.60853095T>G | CA371324931 | CHD7 | c.6370T>G (p.Phe2124Val) c.1717-9134T>G (n.1717-9134T>G) c.6460T>G (p.Phe2154Val) c.4447T>G (p.Phe1483Val) c.3997T>G (p.Phe1333Val) c.3205T>G (p.Phe1069Val) | |
| 8 | g.60853096T>A | CA371324936 | CHD7 | c.6371T>A (p.Phe2124Tyr) c.1717-9133T>A (n.1717-9133T>A) c.6461T>A (p.Phe2154Tyr) c.4448T>A (p.Phe1483Tyr) c.3998T>A (p.Phe1333Tyr) c.3206T>A (p.Phe1069Tyr) | |
| 8 | g.60853096T>C | CA371324937 | CHD7 | c.6371T>C (p.Phe2124Ser) c.1717-9133T>C (n.1717-9133T>C) c.6461T>C (p.Phe2154Ser) c.4448T>C (p.Phe1483Ser) c.3998T>C (p.Phe1333Ser) c.3206T>C (p.Phe1069Ser) | ClinVar |
| 8 | g.60853096T>G | CA371324938 | CHD7 | c.6371T>G (p.Phe2124Cys) c.1717-9133T>G (n.1717-9133T>G) c.6461T>G (p.Phe2154Cys) c.4448T>G (p.Phe1483Cys) c.3998T>G (p.Phe1333Cys) c.3206T>G (p.Phe1069Cys) | |
| 8 | g.60853097C>A | CA371324940 | CHD7 | c.6372C>A (p.Phe2124Leu) c.1717-9132C>A (n.1717-9132C>A) c.6462C>A (p.Phe2154Leu) c.4449C>A (p.Phe1483Leu) c.3999C>A (p.Phe1333Leu) c.3207C>A (p.Phe1069Leu) | |
| 8 | g.60853097C>G | CA371324941 | CHD7 | c.6372C>G (p.Phe2124Leu) c.1717-9132C>G (n.1717-9132C>G) c.6462C>G (p.Phe2154Leu) c.4449C>G (p.Phe1483Leu) c.3999C>G (p.Phe1333Leu) c.3207C>G (p.Phe1069Leu) | ClinVar |
| 8 | g.60853097C>T | CA461105316 | CHD7 | c.6372C>T (p.Phe2124=) c.1717-9132C>T (n.1717-9132C>T) c.6462C>T (p.Phe2154=) c.4449C>T (p.Phe1483=) c.3999C>T (p.Phe1333=) c.3207C>T (p.Phe1069=) | |
| 8 | g.60853098T>A | CA371324945 | CHD7 | c.6373T>A (p.Leu2125Met) c.1717-9131T>A (n.1717-9131T>A) c.6463T>A (p.Leu2155Met) c.4450T>A (p.Leu1484Met) c.4000T>A (p.Leu1334Met) c.3208T>A (p.Leu1070Met) | |
| 8 | g.60853098T>C | CA4760579 | CHD7 | c.6373T>C (p.Leu2125=) c.1717-9131T>C (n.1717-9131T>C) c.6463T>C (p.Leu2155=) c.4450T>C (p.Leu1484=) c.4000T>C (p.Leu1334=) c.3208T>C (p.Leu1070=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853098T>G | CA371324944 | CHD7 | c.6373T>G (p.Leu2125Val) c.1717-9131T>G (n.1717-9131T>G) c.6463T>G (p.Leu2155Val) c.4450T>G (p.Leu1484Val) c.4000T>G (p.Leu1334Val) c.3208T>G (p.Leu1070Val) | |
| 8 | g.60853098T= | CA1788103657 | CHD7 | c.6373T= (p.Leu2125=) c.1717-9131T= (n.1717-9131T=) c.6463T= (p.Leu2155=) c.4450T= (p.Leu1484=) c.4000T= (p.Leu1334=) c.3208T= (p.Leu1070=) | |
| 8 | g.60853099T>A | CA371324947 | CHD7 | c.6374T>A (p.Leu2125Ter) c.1717-9130T>A (n.1717-9130T>A) c.6464T>A (p.Leu2155Ter) c.4451T>A (p.Leu1484Ter) c.4001T>A (p.Leu1334Ter) c.3209T>A (p.Leu1070Ter) | |
| 8 | g.60853099T>C | CA371324950 | CHD7 | c.6374T>C (p.Leu2125Ser) c.1717-9130T>C (n.1717-9130T>C) c.6464T>C (p.Leu2155Ser) c.4451T>C (p.Leu1484Ser) c.4001T>C (p.Leu1334Ser) c.3209T>C (p.Leu1070Ser) | |
| 8 | g.60853099T>G | CA371324952 | CHD7 | c.6374T>G (p.Leu2125Trp) c.1717-9130T>G (n.1717-9130T>G) c.6464T>G (p.Leu2155Trp) c.4451T>G (p.Leu1484Trp) c.4001T>G (p.Leu1334Trp) c.3209T>G (p.Leu1070Trp) | |
| 8 | g.60853100G>A | CA461105319 | CHD7 | c.6375G>A (p.Leu2125=) c.1717-9129G>A (n.1717-9129G>A) c.6465G>A (p.Leu2155=) c.4452G>A (p.Leu1484=) c.4002G>A (p.Leu1334=) c.3210G>A (p.Leu1070=) | |
| 8 | g.60853100G>C | CA371324954 | CHD7 | c.6375G>C (p.Leu2125Phe) c.1717-9129G>C (n.1717-9129G>C) c.6465G>C (p.Leu2155Phe) c.4452G>C (p.Leu1484Phe) c.4002G>C (p.Leu1334Phe) c.3210G>C (p.Leu1070Phe) | |
| 8 | g.60853100G>T | CA371324955 | CHD7 | c.6375G>T (p.Leu2125Phe) c.1717-9129G>T (n.1717-9129G>T) c.6465G>T (p.Leu2155Phe) c.4452G>T (p.Leu1484Phe) c.4002G>T (p.Leu1334Phe) c.3210G>T (p.Leu1070Phe) | |
| 8 | g.60853101G>A | CA371324960 | CHD7 | c.6376G>A (p.Asp2126Asn) c.1717-9128G>A (n.1717-9128G>A) c.6466G>A (p.Asp2156Asn) c.4453G>A (p.Asp1485Asn) c.4003G>A (p.Asp1335Asn) c.3211G>A (p.Asp1071Asn) | gnomAD v4 |
| 8 | g.60853101G>C | CA371324957 | CHD7 | c.6376G>C (p.Asp2126His) c.1717-9128G>C (n.1717-9128G>C) c.6466G>C (p.Asp2156His) c.4453G>C (p.Asp1485His) c.4003G>C (p.Asp1335His) c.3211G>C (p.Asp1071His) | dbSNP gnomAD v4 |
| 8 | g.60853101G= | CA1788103667 | CHD7 | c.6376G= (p.Asp2126=) c.1717-9128G= (n.1717-9128G=) c.6466G= (p.Asp2156=) c.4453G= (p.Asp1485=) c.4003G= (p.Asp1335=) c.3211G= (p.Asp1071=) | |
| 8 | g.60853101G>T | CA371324959 | CHD7 | c.6376G>T (p.Asp2126Tyr) c.1717-9128G>T (n.1717-9128G>T) c.6466G>T (p.Asp2156Tyr) c.4453G>T (p.Asp1485Tyr) c.4003G>T (p.Asp1335Tyr) c.3211G>T (p.Asp1071Tyr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853102A= | CA1788103677 | CHD7 | c.6377A= (p.Asp2126=) c.1717-9127A= (n.1717-9127A=) c.6467A= (p.Asp2156=) c.4454A= (p.Asp1485=) c.4004A= (p.Asp1335=) c.3212A= (p.Asp1071=) | |
| 8 | g.60853102A>C | CA371324962 | CHD7 | c.6377A>C (p.Asp2126Ala) c.1717-9127A>C (n.1717-9127A>C) c.6467A>C (p.Asp2156Ala) c.4454A>C (p.Asp1485Ala) c.4004A>C (p.Asp1335Ala) c.3212A>C (p.Asp1071Ala) | |
| 8 | g.60853102A>G | CA371324964 | CHD7 | c.6377A>G (p.Asp2126Gly) c.1717-9127A>G (n.1717-9127A>G) c.6467A>G (p.Asp2156Gly) c.4454A>G (p.Asp1485Gly) c.4004A>G (p.Asp1335Gly) c.3212A>G (p.Asp1071Gly) | |
| 8 | g.60853102A>T | CA16618677 | CHD7 | c.6377A>T (p.Asp2126Val) c.1717-9127A>T (n.1717-9127A>T) c.6467A>T (p.Asp2156Val) c.4454A>T (p.Asp1485Val) c.4004A>T (p.Asp1335Val) c.3212A>T (p.Asp1071Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60853103T>A | CA371324965 | CHD7 | c.6378T>A (p.Asp2126Glu) c.1717-9126T>A (n.1717-9126T>A) c.6468T>A (p.Asp2156Glu) c.4455T>A (p.Asp1485Glu) c.4005T>A (p.Asp1335Glu) c.3213T>A (p.Asp1071Glu) | |
| 8 | g.60853103T>C | CA461105322 | CHD7 | c.6378T>C (p.Asp2126=) c.1717-9126T>C (n.1717-9126T>C) c.6468T>C (p.Asp2156=) c.4455T>C (p.Asp1485=) c.4005T>C (p.Asp1335=) c.3213T>C (p.Asp1071=) | ClinVar |
| 8 | g.60853103T>G | CA371324967 | CHD7 | c.6378T>G (p.Asp2126Glu) c.1717-9126T>G (n.1717-9126T>G) c.6468T>G (p.Asp2156Glu) c.4455T>G (p.Asp1485Glu) c.4005T>G (p.Asp1335Glu) c.3213T>G (p.Asp1071Glu) | |
| 8 | g.60853104G>A | CA4760580 | CHD7 | c.6379G>A (p.Ala2127Thr) c.1717-9125G>A (n.1717-9125G>A) c.6469G>A (p.Ala2157Thr) c.4456G>A (p.Ala1486Thr) c.4006G>A (p.Ala1336Thr) c.3214G>A (p.Ala1072Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853104G>C | CA371324971 | CHD7 | c.6379G>C (p.Ala2127Pro) c.1717-9125G>C (n.1717-9125G>C) c.6469G>C (p.Ala2157Pro) c.4456G>C (p.Ala1486Pro) c.4006G>C (p.Ala1336Pro) c.3214G>C (p.Ala1072Pro) | |
| 8 | g.60853104G= | CA1788103684 | CHD7 | c.6379G= (p.Ala2127=) c.1717-9125G= (n.1717-9125G=) c.6469G= (p.Ala2157=) c.4456G= (p.Ala1486=) c.4006G= (p.Ala1336=) c.3214G= (p.Ala1072=) | |
| 8 | g.60853104G>T | CA371324969 | CHD7 | c.6379G>T (p.Ala2127Ser) c.1717-9125G>T (n.1717-9125G>T) c.6469G>T (p.Ala2157Ser) c.4456G>T (p.Ala1486Ser) c.4006G>T (p.Ala1336Ser) c.3214G>T (p.Ala1072Ser) | |
| 8 | g.60853105C>A | CA371324974 | CHD7 | c.6380C>A (p.Ala2127Glu) c.1717-9124C>A (n.1717-9124C>A) c.6470C>A (p.Ala2157Glu) c.4457C>A (p.Ala1486Glu) c.4007C>A (p.Ala1336Glu) c.3215C>A (p.Ala1072Glu) | |
| 8 | g.60853105C>G | CA371324975 | CHD7 | c.6380C>G (p.Ala2127Gly) c.1717-9124C>G (n.1717-9124C>G) c.6470C>G (p.Ala2157Gly) c.4457C>G (p.Ala1486Gly) c.4007C>G (p.Ala1336Gly) c.3215C>G (p.Ala1072Gly) | |
| 8 | g.60853105C>T | CA371324977 | CHD7 | c.6380C>T (p.Ala2127Val) c.1717-9124C>T (n.1717-9124C>T) c.6470C>T (p.Ala2157Val) c.4457C>T (p.Ala1486Val) c.4007C>T (p.Ala1336Val) c.3215C>T (p.Ala1072Val) | |
| 8 | g.60853106A= | CA1788103688 | CHD7 | c.6381A= (p.Ala2127=) c.1717-9123A= (n.1717-9123A=) c.6471A= (p.Ala2157=) c.4458A= (p.Ala1486=) c.4008A= (p.Ala1336=) c.3216A= (p.Ala1072=) | |
| 8 | g.60853106A>C | CA461105327 | CHD7 | c.6381A>C (p.Ala2127=) c.1717-9123A>C (n.1717-9123A>C) c.6471A>C (p.Ala2157=) c.4458A>C (p.Ala1486=) c.4008A>C (p.Ala1336=) c.3216A>C (p.Ala1072=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853106A>G | CA461105328 | CHD7 | c.6381A>G (p.Ala2127=) c.1717-9123A>G (n.1717-9123A>G) c.6471A>G (p.Ala2157=) c.4458A>G (p.Ala1486=) c.4008A>G (p.Ala1336=) c.3216A>G (p.Ala1072=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60853106A>T | CA461105326 | CHD7 | c.6381A>T (p.Ala2127=) c.1717-9123A>T (n.1717-9123A>T) c.6471A>T (p.Ala2157=) c.4458A>T (p.Ala1486=) c.4008A>T (p.Ala1336=) c.3216A>T (p.Ala1072=) | |
| 8 | g.60853107C>A | CA371324978 | CHD7 | c.6382C>A (p.His2128Asn) c.1717-9122C>A (n.1717-9122C>A) c.6472C>A (p.His2158Asn) c.4459C>A (p.His1487Asn) c.4009C>A (p.His1337Asn) c.3217C>A (p.His1073Asn) | |
| 8 | g.60853107C>G | CA371324980 | CHD7 | c.6382C>G (p.His2128Asp) c.1717-9122C>G (n.1717-9122C>G) c.6472C>G (p.His2158Asp) c.4459C>G (p.His1487Asp) c.4009C>G (p.His1337Asp) c.3217C>G (p.His1073Asp) | |
| 8 | g.60853107C>T | CA371324981 | CHD7 | c.6382C>T (p.His2128Tyr) c.1717-9122C>T (n.1717-9122C>T) c.6472C>T (p.His2158Tyr) c.4459C>T (p.His1487Tyr) c.4009C>T (p.His1337Tyr) c.3217C>T (p.His1073Tyr) | gnomAD v4 |
| 8 | g.60853108A= | CA1788103694 | CHD7 | c.6383A= (p.His2128=) c.1717-9121A= (n.1717-9121A=) c.6473A= (p.His2158=) c.4460A= (p.His1487=) c.4010A= (p.His1337=) c.3218A= (p.His1073=) | |
| 8 | g.60853108A>C | CA371324985 | CHD7 | c.6383A>C (p.His2128Pro) c.1717-9121A>C (n.1717-9121A>C) c.6473A>C (p.His2158Pro) c.4460A>C (p.His1487Pro) c.4010A>C (p.His1337Pro) c.3218A>C (p.His1073Pro) | |
| 8 | g.60853108A>G | CA4760581 | CHD7 | c.6383A>G (p.His2128Arg) c.1717-9121A>G (n.1717-9121A>G) c.6473A>G (p.His2158Arg) c.4460A>G (p.His1487Arg) c.4010A>G (p.His1337Arg) c.3218A>G (p.His1073Arg) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.60853108A>T | CA371324984 | CHD7 | c.6383A>T (p.His2128Leu) c.1717-9121A>T (n.1717-9121A>T) c.6473A>T (p.His2158Leu) c.4460A>T (p.His1487Leu) c.4010A>T (p.His1337Leu) c.3218A>T (p.His1073Leu) | |
| 8 | g.60853109T>A | CA371324986 | CHD7 | c.6384T>A (p.His2128Gln) c.1717-9120T>A (n.1717-9120T>A) c.6474T>A (p.His2158Gln) c.4461T>A (p.His1487Gln) c.4011T>A (p.His1337Gln) c.3219T>A (p.His1073Gln) | |
| 8 | g.60853109T>C | CA461105332 | CHD7 | c.6384T>C (p.His2128=) c.1717-9120T>C (n.1717-9120T>C) c.6474T>C (p.His2158=) c.4461T>C (p.His1487=) c.4011T>C (p.His1337=) c.3219T>C (p.His1073=) | |
| 8 | g.60853109T>G | CA371324987 | CHD7 | c.6384T>G (p.His2128Gln) c.1717-9120T>G (n.1717-9120T>G) c.6474T>G (p.His2158Gln) c.4461T>G (p.His1487Gln) c.4011T>G (p.His1337Gln) c.3219T>G (p.His1073Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853109T= | CA1788103701 | CHD7 | c.6384T= (p.His2128=) c.1717-9120T= (n.1717-9120T=) c.6474T= (p.His2158=) c.4461T= (p.His1487=) c.4011T= (p.His1337=) c.3219T= (p.His1073=) | |
| 8 | g.60853110A>C | CA371324988 | CHD7 | c.6385A>C (p.Lys2129Gln) c.1717-9119A>C (n.1717-9119A>C) c.6475A>C (p.Lys2159Gln) c.4462A>C (p.Lys1488Gln) c.4012A>C (p.Lys1338Gln) c.3220A>C (p.Lys1074Gln) | |
| 8 | g.60853110A>G | CA371324989 | CHD7 | c.6385A>G (p.Lys2129Glu) c.1717-9119A>G (n.1717-9119A>G) c.6475A>G (p.Lys2159Glu) c.4462A>G (p.Lys1488Glu) c.4012A>G (p.Lys1338Glu) c.3220A>G (p.Lys1074Glu) | |
| 8 | g.60853110A>T | CA371324990 | CHD7 | c.6385A>T (p.Lys2129Ter) c.1717-9119A>T (n.1717-9119A>T) c.6475A>T (p.Lys2159Ter) c.4462A>T (p.Lys1488Ter) c.4012A>T (p.Lys1338Ter) c.3220A>T (p.Lys1074Ter) | |
| 8 | g.60853111A>C | CA371324992 | CHD7 | c.6386A>C (p.Lys2129Thr) c.1717-9118A>C (n.1717-9118A>C) c.6476A>C (p.Lys2159Thr) c.4463A>C (p.Lys1488Thr) c.4013A>C (p.Lys1338Thr) c.3221A>C (p.Lys1074Thr) | |
| 8 | g.60853111A>G | CA371324994 | CHD7 | c.6386A>G (p.Lys2129Arg) c.1717-9118A>G (n.1717-9118A>G) c.6476A>G (p.Lys2159Arg) c.4463A>G (p.Lys1488Arg) c.4013A>G (p.Lys1338Arg) c.3221A>G (p.Lys1074Arg) | |
| 8 | g.60853111A>T | CA371324995 | CHD7 | c.6386A>T (p.Lys2129Ile) c.1717-9118A>T (n.1717-9118A>T) c.6476A>T (p.Lys2159Ile) c.4463A>T (p.Lys1488Ile) c.4013A>T (p.Lys1338Ile) c.3221A>T (p.Lys1074Ile) | |
| 8 | g.60853112A>C | CA371325000 | CHD7 | c.6387A>C (p.Lys2129Asn) c.1717-9117A>C (n.1717-9117A>C) c.6477A>C (p.Lys2159Asn) c.4464A>C (p.Lys1488Asn) c.4014A>C (p.Lys1338Asn) c.3222A>C (p.Lys1074Asn) | |
| 8 | g.60853112A>G | CA461105336 | CHD7 | c.6387A>G (p.Lys2129=) c.1717-9117A>G (n.1717-9117A>G) c.6477A>G (p.Lys2159=) c.4464A>G (p.Lys1488=) c.4014A>G (p.Lys1338=) c.3222A>G (p.Lys1074=) | gnomAD v4 |
| 8 | g.60853112A>T | CA371325001 | CHD7 | c.6387A>T (p.Lys2129Asn) c.1717-9117A>T (n.1717-9117A>T) c.6477A>T (p.Lys2159Asn) c.4464A>T (p.Lys1488Asn) c.4014A>T (p.Lys1338Asn) c.3222A>T (p.Lys1074Asn) | |
| 8 | g.60853112_60853113insCCAAACACACCCAACAC | CA2780535063 | CHD7 | c.6387_6388insCCAAACACACCCAACAC (p.Asn2130ProfsTer20) c.1717-9117_1717-9116insCCAAACACACCCAACAC (n.1717-9117_1717-9116insCCAAACACACCCAACAC) c.6477_6478insCCAAACACACCCAACAC (p.Asn2160ProfsTer20) c.4464_4465insCCAAACACACCCAACAC (p.Asn1489ProfsTer20) c.4014_4015insCCAAACACACCCAACAC (p.Asn1339ProfsTer20) c.3222_3223insCCAAACACACCCAACAC (p.Asn1075ProfsTer20) | |
| 8 | g.60853113A>C | CA371325003 | CHD7 | c.6388A>C (p.Asn2130His) c.1717-9116A>C (n.1717-9116A>C) c.6478A>C (p.Asn2160His) c.4465A>C (p.Asn1489His) c.4015A>C (p.Asn1339His) c.3223A>C (p.Asn1075His) | |
| 8 | g.60853113A>G | CA371325004 | CHD7 | c.6388A>G (p.Asn2130Asp) c.1717-9116A>G (n.1717-9116A>G) c.6478A>G (p.Asn2160Asp) c.4465A>G (p.Asn1489Asp) c.4015A>G (p.Asn1339Asp) c.3223A>G (p.Asn1075Asp) | |
| 8 | g.60853113A>T | CA371325006 | CHD7 | c.6388A>T (p.Asn2130Tyr) c.1717-9116A>T (n.1717-9116A>T) c.6478A>T (p.Asn2160Tyr) c.4465A>T (p.Asn1489Tyr) c.4015A>T (p.Asn1339Tyr) c.3223A>T (p.Asn1075Tyr) | |
| 8 | g.60853114A= | CA1788103705 | CHD7 | c.6389A= (p.Asn2130=) c.1717-9115A= (n.1717-9115A=) c.6479A= (p.Asn2160=) c.4466A= (p.Asn1489=) c.4016A= (p.Asn1339=) c.3224A= (p.Asn1075=) | |
| 8 | g.60853114A>C | CA371325010 | CHD7 | c.6389A>C (p.Asn2130Thr) c.1717-9115A>C (n.1717-9115A>C) c.6479A>C (p.Asn2160Thr) c.4466A>C (p.Asn1489Thr) c.4016A>C (p.Asn1339Thr) c.3224A>C (p.Asn1075Thr) | |
| 8 | g.60853114A>G | CA371325008 | CHD7 | c.6389A>G (p.Asn2130Ser) c.1717-9115A>G (n.1717-9115A>G) c.6479A>G (p.Asn2160Ser) c.4466A>G (p.Asn1489Ser) c.4016A>G (p.Asn1339Ser) c.3224A>G (p.Asn1075Ser) | |
| 8 | g.60853114A>T | CA4760582 | CHD7 | c.6389A>T (p.Asn2130Ile) c.1717-9115A>T (n.1717-9115A>T) c.6479A>T (p.Asn2160Ile) c.4466A>T (p.Asn1489Ile) c.4016A>T (p.Asn1339Ile) c.3224A>T (p.Asn1075Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853115C>A | CA371325011 | CHD7 | c.6390C>A (p.Asn2130Lys) c.1717-9114C>A (n.1717-9114C>A) c.6480C>A (p.Asn2160Lys) c.4467C>A (p.Asn1489Lys) c.4017C>A (p.Asn1339Lys) c.3225C>A (p.Asn1075Lys) | |
| 8 | g.60853115C>G | CA371325013 | CHD7 | c.6390C>G (p.Asn2130Lys) c.1717-9114C>G (n.1717-9114C>G) c.6480C>G (p.Asn2160Lys) c.4467C>G (p.Asn1489Lys) c.4017C>G (p.Asn1339Lys) c.3225C>G (p.Asn1075Lys) | |
| 8 | g.60853115C>T | CA461105340 | CHD7 | c.6390C>T (p.Asn2130=) c.1717-9114C>T (n.1717-9114C>T) c.6480C>T (p.Asn2160=) c.4467C>T (p.Asn1489=) c.4017C>T (p.Asn1339=) c.3225C>T (p.Asn1075=) | |
| 8 | g.60853116T>A | CA371325015 | CHD7 | c.6391T>A (p.Phe2131Ile) c.1717-9113T>A (n.1717-9113T>A) c.6481T>A (p.Phe2161Ile) c.4468T>A (p.Phe1490Ile) c.4018T>A (p.Phe1340Ile) c.3226T>A (p.Phe1076Ile) | |
| 8 | g.60853116T>C | CA371325017 | CHD7 | c.6391T>C (p.Phe2131Leu) c.1717-9113T>C (n.1717-9113T>C) c.6481T>C (p.Phe2161Leu) c.4468T>C (p.Phe1490Leu) c.4018T>C (p.Phe1340Leu) c.3226T>C (p.Phe1076Leu) | |
| 8 | g.60853116T>G | CA371325019 | CHD7 | c.6391T>G (p.Phe2131Val) c.1717-9113T>G (n.1717-9113T>G) c.6481T>G (p.Phe2161Val) c.4468T>G (p.Phe1490Val) c.4018T>G (p.Phe1340Val) c.3226T>G (p.Phe1076Val) | |
| 8 | g.60853118del | CA2695209419 | CHD7 | c.6393del (p.Phe2131LeufsTer13) c.1717-9111del (n.1717-9111del) c.6483del (p.Phe2161LeufsTer13) c.4470del (p.Phe1490LeufsTer13) c.4020del (p.Phe1340LeufsTer13) c.3228del (p.Phe1076LeufsTer13) | |
| 8 | g.60853117T>A | CA371325020 | CHD7 | c.6392T>A (p.Phe2131Tyr) c.1717-9112T>A (n.1717-9112T>A) c.6482T>A (p.Phe2161Tyr) c.4469T>A (p.Phe1490Tyr) c.4019T>A (p.Phe1340Tyr) c.3227T>A (p.Phe1076Tyr) | |
| 8 | g.60853117T>C | CA371325021 | CHD7 | c.6392T>C (p.Phe2131Ser) c.1717-9112T>C (n.1717-9112T>C) c.6482T>C (p.Phe2161Ser) c.4469T>C (p.Phe1490Ser) c.4019T>C (p.Phe1340Ser) c.3227T>C (p.Phe1076Ser) | |
| 8 | g.60853117T>G | CA4760583 | CHD7 | c.6392T>G (p.Phe2131Cys) c.1717-9112T>G (n.1717-9112T>G) c.6482T>G (p.Phe2161Cys) c.4469T>G (p.Phe1490Cys) c.4019T>G (p.Phe1340Cys) c.3227T>G (p.Phe1076Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853117T= | CA1788103722 | CHD7 | c.6392T= (p.Phe2131=) c.1717-9112T= (n.1717-9112T=) c.6482T= (p.Phe2161=) c.4469T= (p.Phe1490=) c.4019T= (p.Phe1340=) c.3227T= (p.Phe1076=) | |
| 8 | g.60853118T>A | CA371325024 | CHD7 | c.6393T>A (p.Phe2131Leu) c.1717-9111T>A (n.1717-9111T>A) c.6483T>A (p.Phe2161Leu) c.4470T>A (p.Phe1490Leu) c.4020T>A (p.Phe1340Leu) c.3228T>A (p.Phe1076Leu) | |
| 8 | g.60853118T>C | CA461105348 | CHD7 | c.6393T>C (p.Phe2131=) c.1717-9111T>C (n.1717-9111T>C) c.6483T>C (p.Phe2161=) c.4470T>C (p.Phe1490=) c.4020T>C (p.Phe1340=) c.3228T>C (p.Phe1076=) | ClinVar dbSNP |
| 8 | g.60853118T>G | CA371325025 | CHD7 | c.6393T>G (p.Phe2131Leu) c.1717-9111T>G (n.1717-9111T>G) c.6483T>G (p.Phe2161Leu) c.4470T>G (p.Phe1490Leu) c.4020T>G (p.Phe1340Leu) c.3228T>G (p.Phe1076Leu) | |
| 8 | g.60853119G>A | CA371325026 | CHD7 | c.6394G>A (p.Ala2132Thr) c.1717-9110G>A (n.1717-9110G>A) c.6484G>A (p.Ala2162Thr) c.4471G>A (p.Ala1491Thr) c.4021G>A (p.Ala1341Thr) c.3229G>A (p.Ala1077Thr) | ClinVar gnomAD v4 |
| 8 | g.60853119G>C | CA371325027 | CHD7 | c.6394G>C (p.Ala2132Pro) c.1717-9110G>C (n.1717-9110G>C) c.6484G>C (p.Ala2162Pro) c.4471G>C (p.Ala1491Pro) c.4021G>C (p.Ala1341Pro) c.3229G>C (p.Ala1077Pro) | |
| 8 | g.60853119G>T | CA371325028 | CHD7 | c.6394G>T (p.Ala2132Ser) c.1717-9110G>T (n.1717-9110G>T) c.6484G>T (p.Ala2162Ser) c.4471G>T (p.Ala1491Ser) c.4021G>T (p.Ala1341Ser) c.3229G>T (p.Ala1077Ser) | |
| 8 | g.60853120C>A | CA4760584 | CHD7 | c.6395C>A (p.Ala2132Asp) c.1717-9109C>A (n.1717-9109C>A) c.6485C>A (p.Ala2162Asp) c.4472C>A (p.Ala1491Asp) c.4022C>A (p.Ala1341Asp) c.3230C>A (p.Ala1077Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853120C= | CA1788103727 | CHD7 | c.6395C= (p.Ala2132=) c.1717-9109C= (n.1717-9109C=) c.6485C= (p.Ala2162=) c.4472C= (p.Ala1491=) c.4022C= (p.Ala1341=) c.3230C= (p.Ala1077=) | |
| 8 | g.60853120C>G | CA371325029 | CHD7 | c.6395C>G (p.Ala2132Gly) c.1717-9109C>G (n.1717-9109C>G) c.6485C>G (p.Ala2162Gly) c.4472C>G (p.Ala1491Gly) c.4022C>G (p.Ala1341Gly) c.3230C>G (p.Ala1077Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853120C>T | CA371325030 | CHD7 | c.6395C>T (p.Ala2132Val) c.1717-9109C>T (n.1717-9109C>T) c.6485C>T (p.Ala2162Val) c.4472C>T (p.Ala1491Val) c.4022C>T (p.Ala1341Val) c.3230C>T (p.Ala1077Val) | |
| 8 | g.60853121T>A | CA461105352 | CHD7 | c.6396T>A (p.Ala2132=) c.1717-9108T>A (n.1717-9108T>A) c.6486T>A (p.Ala2162=) c.4473T>A (p.Ala1491=) c.4023T>A (p.Ala1341=) c.3231T>A (p.Ala1077=) | |
| 8 | g.60853121T>C | CA4760585 | CHD7 | c.6396T>C (p.Ala2132=) c.1717-9108T>C (n.1717-9108T>C) c.6486T>C (p.Ala2162=) c.4473T>C (p.Ala1491=) c.4023T>C (p.Ala1341=) c.3231T>C (p.Ala1077=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853121T>G | CA461105353 | CHD7 | c.6396T>G (p.Ala2132=) c.1717-9108T>G (n.1717-9108T>G) c.6486T>G (p.Ala2162=) c.4473T>G (p.Ala1491=) c.4023T>G (p.Ala1341=) c.3231T>G (p.Ala1077=) | |
| 8 | g.60853121T= | CA1788103732 | CHD7 | c.6396T= (p.Ala2132=) c.1717-9108T= (n.1717-9108T=) c.6486T= (p.Ala2162=) c.4473T= (p.Ala1491=) c.4023T= (p.Ala1341=) c.3231T= (p.Ala1077=) | |
| 8 | g.60853122C>A | CA371325033 | CHD7 | c.6397C>A (p.Gln2133Lys) c.1717-9107C>A (n.1717-9107C>A) c.6487C>A (p.Gln2163Lys) c.4474C>A (p.Gln1492Lys) c.4024C>A (p.Gln1342Lys) c.3232C>A (p.Gln1078Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853122C= | CA1788103734 | CHD7 | c.6397C= (p.Gln2133=) c.1717-9107C= (n.1717-9107C=) c.6487C= (p.Gln2163=) c.4474C= (p.Gln1492=) c.4024C= (p.Gln1342=) c.3232C= (p.Gln1078=) | |
| 8 | g.60853122C>G | CA371325036 | CHD7 | c.6397C>G (p.Gln2133Glu) c.1717-9107C>G (n.1717-9107C>G) c.6487C>G (p.Gln2163Glu) c.4474C>G (p.Gln1492Glu) c.4024C>G (p.Gln1342Glu) c.3232C>G (p.Gln1078Glu) | gnomAD v4 |
| 8 | g.60853122C>T | CA371325037 | CHD7 | c.6397C>T (p.Gln2133Ter) c.1717-9107C>T (n.1717-9107C>T) c.6487C>T (p.Gln2163Ter) c.4474C>T (p.Gln1492Ter) c.4024C>T (p.Gln1342Ter) c.3232C>T (p.Gln1078Ter) | |
| 8 | g.60853122_60853123delinsCA | CA1788103736 | CHD7 | c.6397_6398delinsCA (p.Gln2133=) c.1717-9107_1717-9106delinsCA (n.1717-9107_1717-9106delinsCA) c.6487_6488delinsCA (p.Gln2163=) c.4474_4475delinsCA (p.Gln1492=) c.4024_4025delinsCA (p.Gln1342=) c.3232_3233delinsCA (p.Gln1078=) | |
| 8 | g.60853123A>C | CA371325039 | CHD7 | c.6398A>C (p.Gln2133Pro) c.1717-9106A>C (n.1717-9106A>C) c.6488A>C (p.Gln2163Pro) c.4475A>C (p.Gln1492Pro) c.4025A>C (p.Gln1342Pro) c.3233A>C (p.Gln1078Pro) | |
| 8 | g.60853123A>G | CA371325042 | CHD7 | c.6398A>G (p.Gln2133Arg) c.1717-9106A>G (n.1717-9106A>G) c.6488A>G (p.Gln2163Arg) c.4475A>G (p.Gln1492Arg) c.4025A>G (p.Gln1342Arg) c.3233A>G (p.Gln1078Arg) | |
| 8 | g.60853123A>T | CA371325045 | CHD7 | c.6398A>T (p.Gln2133Leu) c.1717-9106A>T (n.1717-9106A>T) c.6488A>T (p.Gln2163Leu) c.4475A>T (p.Gln1492Leu) c.4025A>T (p.Gln1342Leu) c.3233A>T (p.Gln1078Leu) | |
| 8 | g.60853126del | CA915945720 | CHD7 | c.6401del (p.Asn2134ThrfsTer10) c.1717-9103del (n.1717-9103del) c.6491del (p.Asn2164ThrfsTer10) c.4478del (p.Asn1493ThrfsTer10) c.4028del (p.Asn1343ThrfsTer10) c.3236del (p.Asn1079ThrfsTer10) | ClinVar dbSNP |
| 8 | g.60853124A>C | CA371325046 | CHD7 | c.6399A>C (p.Gln2133His) c.1717-9105A>C (n.1717-9105A>C) c.6489A>C (p.Gln2163His) c.4476A>C (p.Gln1492His) c.4026A>C (p.Gln1342His) c.3234A>C (p.Gln1078His) | |
| 8 | g.60853124A>G | CA461105357 | CHD7 | c.6399A>G (p.Gln2133=) c.1717-9105A>G (n.1717-9105A>G) c.6489A>G (p.Gln2163=) c.4476A>G (p.Gln1492=) c.4026A>G (p.Gln1342=) c.3234A>G (p.Gln1078=) | ClinVar gnomAD v4 |
| 8 | g.60853124A>T | CA371325049 | CHD7 | c.6399A>T (p.Gln2133His) c.1717-9105A>T (n.1717-9105A>T) c.6489A>T (p.Gln2163His) c.4476A>T (p.Gln1492His) c.4026A>T (p.Gln1342His) c.3234A>T (p.Gln1078His) | |
| 8 | g.60853125A>C | CA371325052 | CHD7 | c.6400A>C (p.Asn2134His) c.1717-9104A>C (n.1717-9104A>C) c.6490A>C (p.Asn2164His) c.4477A>C (p.Asn1493His) c.4027A>C (p.Asn1343His) c.3235A>C (p.Asn1079His) | |
| 8 | g.60853125A>G | CA371325053 | CHD7 | c.6400A>G (p.Asn2134Asp) c.1717-9104A>G (n.1717-9104A>G) c.6490A>G (p.Asn2164Asp) c.4477A>G (p.Asn1493Asp) c.4027A>G (p.Asn1343Asp) c.3235A>G (p.Asn1079Asp) | |
| 8 | g.60853125A>T | CA371325055 | CHD7 | c.6400A>T (p.Asn2134Tyr) c.1717-9104A>T (n.1717-9104A>T) c.6490A>T (p.Asn2164Tyr) c.4477A>T (p.Asn1493Tyr) c.4027A>T (p.Asn1343Tyr) c.3235A>T (p.Asn1079Tyr) | |
| 8 | g.60853126A= | CA1788103749 | CHD7 | c.6401A= (p.Asn2134=) c.1717-9103A= (n.1717-9103A=) c.6491A= (p.Asn2164=) c.4478A= (p.Asn1493=) c.4028A= (p.Asn1343=) c.3236A= (p.Asn1079=) | |
| 8 | g.60853126A>C | CA371325058 | CHD7 | c.6401A>C (p.Asn2134Thr) c.1717-9103A>C (n.1717-9103A>C) c.6491A>C (p.Asn2164Thr) c.4478A>C (p.Asn1493Thr) c.4028A>C (p.Asn1343Thr) c.3236A>C (p.Asn1079Thr) | |
| 8 | g.60853126A>G | CA4760586 | CHD7 | c.6401A>G (p.Asn2134Ser) c.1717-9103A>G (n.1717-9103A>G) c.6491A>G (p.Asn2164Ser) c.4478A>G (p.Asn1493Ser) c.4028A>G (p.Asn1343Ser) c.3236A>G (p.Asn1079Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853126A>T | CA371325057 | CHD7 | c.6401A>T (p.Asn2134Ile) c.1717-9103A>T (n.1717-9103A>T) c.6491A>T (p.Asn2164Ile) c.4478A>T (p.Asn1493Ile) c.4028A>T (p.Asn1343Ile) c.3236A>T (p.Asn1079Ile) | |
| 8 | g.60853127C>A | CA371325061 | CHD7 | c.6402C>A (p.Asn2134Lys) c.1717-9102C>A (n.1717-9102C>A) c.6492C>A (p.Asn2164Lys) c.4479C>A (p.Asn1493Lys) c.4029C>A (p.Asn1343Lys) c.3237C>A (p.Asn1079Lys) | |
| 8 | g.60853127C= | CA1788103778 | CHD7 | c.6402C= (p.Asn2134=) c.1717-9102C= (n.1717-9102C=) c.6492C= (p.Asn2164=) c.4479C= (p.Asn1493=) c.4029C= (p.Asn1343=) c.3237C= (p.Asn1079=) | |
| 8 | g.60853127C>G | CA371325062 | CHD7 | c.6402C>G (p.Asn2134Lys) c.1717-9102C>G (n.1717-9102C>G) c.6492C>G (p.Asn2164Lys) c.4479C>G (p.Asn1493Lys) c.4029C>G (p.Asn1343Lys) c.3237C>G (p.Asn1079Lys) | |
| 8 | g.60853127C>T | CA461105361 | CHD7 | c.6402C>T (p.Asn2134=) c.1717-9102C>T (n.1717-9102C>T) c.6492C>T (p.Asn2164=) c.4479C>T (p.Asn1493=) c.4029C>T (p.Asn1343=) c.3237C>T (p.Asn1079=) | dbSNP |
| 8 | g.60853128A>C | CA461105362 | CHD7 | c.6403A>C (p.Arg2135=) c.1717-9101A>C (n.1717-9101A>C) c.6493A>C (p.Arg2165=) c.4480A>C (p.Arg1494=) c.4030A>C (p.Arg1344=) c.3238A>C (p.Arg1080=) | |
| 8 | g.60853128A>G | CA371325063 | CHD7 | c.6403A>G (p.Arg2135Gly) c.1717-9101A>G (n.1717-9101A>G) c.6493A>G (p.Arg2165Gly) c.4480A>G (p.Arg1494Gly) c.4030A>G (p.Arg1344Gly) c.3238A>G (p.Arg1080Gly) | COSMIC |
| 8 | g.60853128A>T | CA371325064 | CHD7 | c.6403A>T (p.Arg2135Ter) c.1717-9101A>T (n.1717-9101A>T) c.6493A>T (p.Arg2165Ter) c.4480A>T (p.Arg1494Ter) c.4030A>T (p.Arg1344Ter) c.3238A>T (p.Arg1080Ter) | |
| 8 | g.60853130_60853131del | CA2695209422 | CHD7 | c.6405_6406del (p.Ala2137ArgfsTer2) c.1717-9099_1717-9098del (n.1717-9099_1717-9098del) c.6495_6496del (p.Ala2167ArgfsTer2) c.4482_4483del (p.Ala1496ArgfsTer2) c.4032_4033del (p.Ala1346ArgfsTer2) c.3240_3241del (p.Ala1082ArgfsTer2) | |
| 8 | g.60853129G>A | CA371325065 | CHD7 | c.6404G>A (p.Arg2135Lys) c.1717-9100G>A (n.1717-9100G>A) c.6494G>A (p.Arg2165Lys) c.4481G>A (p.Arg1494Lys) c.4031G>A (p.Arg1344Lys) c.3239G>A (p.Arg1080Lys) | |
| 8 | g.60853129G>C | CA371325066 | CHD7 | c.6404G>C (p.Arg2135Thr) c.1717-9100G>C (n.1717-9100G>C) c.6494G>C (p.Arg2165Thr) c.4481G>C (p.Arg1494Thr) c.4031G>C (p.Arg1344Thr) c.3239G>C (p.Arg1080Thr) | |
| 8 | g.60853129G>T | CA371325067 | CHD7 | c.6404G>T (p.Arg2135Ile) c.1717-9100G>T (n.1717-9100G>T) c.6494G>T (p.Arg2165Ile) c.4481G>T (p.Arg1494Ile) c.4031G>T (p.Arg1344Ile) c.3239G>T (p.Arg1080Ile) | |
| 8 | g.60853130A>C | CA371325069 | CHD7 | c.6405A>C (p.Arg2135Ser) c.1717-9099A>C (n.1717-9099A>C) c.6495A>C (p.Arg2165Ser) c.4482A>C (p.Arg1494Ser) c.4032A>C (p.Arg1344Ser) c.3240A>C (p.Arg1080Ser) | |
| 8 | g.60853130A>G | CA461105366 | CHD7 | c.6405A>G (p.Arg2135=) c.1717-9099A>G (n.1717-9099A>G) c.6495A>G (p.Arg2165=) c.4482A>G (p.Arg1494=) c.4032A>G (p.Arg1344=) c.3240A>G (p.Arg1080=) | |
| 8 | g.60853130A>T | CA371325068 | CHD7 | c.6405A>T (p.Arg2135Ser) c.1717-9099A>T (n.1717-9099A>T) c.6495A>T (p.Arg2165Ser) c.4482A>T (p.Arg1494Ser) c.4032A>T (p.Arg1344Ser) c.3240A>T (p.Arg1080Ser) | |
| 8 | g.60853131G>A | CA371325070 | CHD7 | c.6406G>A (p.Gly2136Arg) c.1717-9098G>A (n.1717-9098G>A) c.6496G>A (p.Gly2166Arg) c.4483G>A (p.Gly1495Arg) c.4033G>A (p.Gly1345Arg) c.3241G>A (p.Gly1081Arg) | |
| 8 | g.60853131G>C | CA371325071 | CHD7 | c.6406G>C (p.Gly2136Arg) c.1717-9098G>C (n.1717-9098G>C) c.6496G>C (p.Gly2166Arg) c.4483G>C (p.Gly1495Arg) c.4033G>C (p.Gly1345Arg) c.3241G>C (p.Gly1081Arg) | |
| 8 | g.60853131G>T | CA371325072 | CHD7 | c.6406G>T (p.Gly2136Trp) c.1717-9098G>T (n.1717-9098G>T) c.6496G>T (p.Gly2166Trp) c.4483G>T (p.Gly1495Trp) c.4033G>T (p.Gly1345Trp) c.3241G>T (p.Gly1081Trp) | |
| 8 | g.60853132G>A | CA371325074 | CHD7 | c.6407G>A (p.Gly2136Glu) c.1717-9097G>A (n.1717-9097G>A) c.6497G>A (p.Gly2166Glu) c.4484G>A (p.Gly1495Glu) c.4034G>A (p.Gly1345Glu) c.3242G>A (p.Gly1081Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853132G>C | CA371325076 | CHD7 | c.6407G>C (p.Gly2136Ala) c.1717-9097G>C (n.1717-9097G>C) c.6497G>C (p.Gly2166Ala) c.4484G>C (p.Gly1495Ala) c.4034G>C (p.Gly1345Ala) c.3242G>C (p.Gly1081Ala) | |
| 8 | g.60853132G= | CA1788103781 | CHD7 | c.6407G= (p.Gly2136=) c.1717-9097G= (n.1717-9097G=) c.6497G= (p.Gly2166=) c.4484G= (p.Gly1495=) c.4034G= (p.Gly1345=) c.3242G= (p.Gly1081=) | |
| 8 | g.60853132G>T | CA371325077 | CHD7 | c.6407G>T (p.Gly2136Val) c.1717-9097G>T (n.1717-9097G>T) c.6497G>T (p.Gly2166Val) c.4484G>T (p.Gly1495Val) c.4034G>T (p.Gly1345Val) c.3242G>T (p.Gly1081Val) | |
| 8 | g.60853133G>A | CA461105369 | CHD7 | c.6408G>A (p.Gly2136=) c.1717-9096G>A (n.1717-9096G>A) c.6498G>A (p.Gly2166=) c.4485G>A (p.Gly1495=) c.4035G>A (p.Gly1345=) c.3243G>A (p.Gly1081=) | gnomAD v4 |
| 8 | g.60853133G>C | CA461105371 | CHD7 | c.6408G>C (p.Gly2136=) c.1717-9096G>C (n.1717-9096G>C) c.6498G>C (p.Gly2166=) c.4485G>C (p.Gly1495=) c.4035G>C (p.Gly1345=) c.3243G>C (p.Gly1081=) | |
| 8 | g.60853133G>T | CA461105370 | CHD7 | c.6408G>T (p.Gly2136=) c.1717-9096G>T (n.1717-9096G>T) c.6498G>T (p.Gly2166=) c.4485G>T (p.Gly1495=) c.4035G>T (p.Gly1345=) c.3243G>T (p.Gly1081=) | |
| 8 | g.60853134G>A | CA371325078 | CHD7 | c.6409G>A (p.Ala2137Thr) c.1717-9095G>A (n.1717-9095G>A) c.6499G>A (p.Ala2167Thr) c.4486G>A (p.Ala1496Thr) c.4036G>A (p.Ala1346Thr) c.3244G>A (p.Ala1082Thr) | dbSNP gnomAD v4 |
| 8 | g.60853134G>C | CA371325083 | CHD7 | c.6409G>C (p.Ala2137Pro) c.1717-9095G>C (n.1717-9095G>C) c.6499G>C (p.Ala2167Pro) c.4486G>C (p.Ala1496Pro) c.4036G>C (p.Ala1346Pro) c.3244G>C (p.Ala1082Pro) | |
| 8 | g.60853134G>T | CA371325080 | CHD7 | c.6409G>T (p.Ala2137Ser) c.1717-9095G>T (n.1717-9095G>T) c.6499G>T (p.Ala2167Ser) c.4486G>T (p.Ala1496Ser) c.4036G>T (p.Ala1346Ser) c.3244G>T (p.Ala1082Ser) | gnomAD v4 |
| 8 | g.60853135C>A | CA371325085 | CHD7 | c.6410C>A (p.Ala2137Glu) c.1717-9094C>A (n.1717-9094C>A) c.6500C>A (p.Ala2167Glu) c.4487C>A (p.Ala1496Glu) c.4037C>A (p.Ala1346Glu) c.3245C>A (p.Ala1082Glu) | |
| 8 | g.60853135C= | CA1788103788 | CHD7 | c.6410C= (p.Ala2137=) c.1717-9094C= (n.1717-9094C=) c.6500C= (p.Ala2167=) c.4487C= (p.Ala1496=) c.4037C= (p.Ala1346=) c.3245C= (p.Ala1082=) | |
| 8 | g.60853135C>G | CA371325087 | CHD7 | c.6410C>G (p.Ala2137Gly) c.1717-9094C>G (n.1717-9094C>G) c.6500C>G (p.Ala2167Gly) c.4487C>G (p.Ala1496Gly) c.4037C>G (p.Ala1346Gly) c.3245C>G (p.Ala1082Gly) | |
| 8 | g.60853135C>T | CA371325089 | CHD7 | c.6410C>T (p.Ala2137Val) c.1717-9094C>T (n.1717-9094C>T) c.6500C>T (p.Ala2167Val) c.4487C>T (p.Ala1496Val) c.4037C>T (p.Ala1346Val) c.3245C>T (p.Ala1082Val) | dbSNP COSMIC |
| 8 | g.60853136A>C | CA461105373 | CHD7 | c.6411A>C (p.Ala2137=) c.1717-9093A>C (n.1717-9093A>C) c.6501A>C (p.Ala2167=) c.4488A>C (p.Ala1496=) c.4038A>C (p.Ala1346=) c.3246A>C (p.Ala1082=) | |
| 8 | g.60853136A>G | CA461105376 | CHD7 | c.6411A>G (p.Ala2137=) c.1717-9093A>G (n.1717-9093A>G) c.6501A>G (p.Ala2167=) c.4488A>G (p.Ala1496=) c.4038A>G (p.Ala1346=) c.3246A>G (p.Ala1082=) | gnomAD v4 |
| 8 | g.60853136A>T | CA461105377 | CHD7 | c.6411A>T (p.Ala2137=) c.1717-9093A>T (n.1717-9093A>T) c.6501A>T (p.Ala2167=) c.4488A>T (p.Ala1496=) c.4038A>T (p.Ala1346=) c.3246A>T (p.Ala1082=) | dbSNP |
| 8 | g.60853137G>A | CA371325093 | CHD7 | c.6412G>A (p.Gly2138Ser) c.1717-9092G>A (n.1717-9092G>A) c.6502G>A (p.Gly2168Ser) c.4489G>A (p.Gly1497Ser) c.4039G>A (p.Gly1347Ser) c.3247G>A (p.Gly1083Ser) | ClinVar |
| 8 | g.60853137G>C | CA371325094 | CHD7 | c.6412G>C (p.Gly2138Arg) c.1717-9092G>C (n.1717-9092G>C) c.6502G>C (p.Gly2168Arg) c.4489G>C (p.Gly1497Arg) c.4039G>C (p.Gly1347Arg) c.3247G>C (p.Gly1083Arg) | |
| 8 | g.60853137G= | CA1788103793 | CHD7 | c.6412G= (p.Gly2138=) c.1717-9092G= (n.1717-9092G=) c.6502G= (p.Gly2168=) c.4489G= (p.Gly1497=) c.4039G= (p.Gly1347=) c.3247G= (p.Gly1083=) | |
| 8 | g.60853137G>T | CA371325095 | CHD7 | c.6412G>T (p.Gly2138Cys) c.1717-9092G>T (n.1717-9092G>T) c.6502G>T (p.Gly2168Cys) c.4489G>T (p.Gly1497Cys) c.4039G>T (p.Gly1347Cys) c.3247G>T (p.Gly1083Cys) | |
| 8 | g.60853137_60853138insATCCAAGCTT | CA1788103814 | CHD7 | c.6412_6413insATCCAAGCTT (p.Gly2138AspfsTer5) c.1717-9092_1717-9091insATCCAAGCTT (n.1717-9092_1717-9091insATCCAAGCTT) c.6502_6503insATCCAAGCTT (p.Gly2168AspfsTer5) c.4489_4490insATCCAAGCTT (p.Gly1497AspfsTer5) c.4039_4040insATCCAAGCTT (p.Gly1347AspfsTer5) c.3247_3248insATCCAAGCTT (p.Gly1083AspfsTer5) | dbSNP |
| 8 | g.60853138G>A | CA371325099 | CHD7 | c.6413G>A (p.Gly2138Asp) c.1717-9091G>A (n.1717-9091G>A) c.6503G>A (p.Gly2168Asp) c.4490G>A (p.Gly1497Asp) c.4040G>A (p.Gly1347Asp) c.3248G>A (p.Gly1083Asp) | |
| 8 | g.60853138G>C | CA371325101 | CHD7 | c.6413G>C (p.Gly2138Ala) c.1717-9091G>C (n.1717-9091G>C) c.6503G>C (p.Gly2168Ala) c.4490G>C (p.Gly1497Ala) c.4040G>C (p.Gly1347Ala) c.3248G>C (p.Gly1083Ala) | |
| 8 | g.60853138G>T | CA371325102 | CHD7 | c.6413G>T (p.Gly2138Val) c.1717-9091G>T (n.1717-9091G>T) c.6503G>T (p.Gly2168Val) c.4490G>T (p.Gly1497Val) c.4040G>T (p.Gly1347Val) c.3248G>T (p.Gly1083Val) | |
| 8 | g.60853139T>A | CA461105380 | CHD7 | c.6414T>A (p.Gly2138=) c.1717-9090T>A (n.1717-9090T>A) c.6504T>A (p.Gly2168=) c.4491T>A (p.Gly1497=) c.4041T>A (p.Gly1347=) c.3249T>A (p.Gly1083=) | |
| 8 | g.60853139T>C | CA461105381 | CHD7 | c.6414T>C (p.Gly2138=) c.1717-9090T>C (n.1717-9090T>C) c.6504T>C (p.Gly2168=) c.4491T>C (p.Gly1497=) c.4041T>C (p.Gly1347=) c.3249T>C (p.Gly1083=) | |
| 8 | g.60853139T>G | CA461105382 | CHD7 | c.6414T>G (p.Gly2138=) c.1717-9090T>G (n.1717-9090T>G) c.6504T>G (p.Gly2168=) c.4491T>G (p.Gly1497=) c.4041T>G (p.Gly1347=) c.3249T>G (p.Gly1083=) | |
| 8 | g.60853140A= | CA1788103817 | CHD7 | c.6415A= (p.Asn2139=) c.1717-9089A= (n.1717-9089A=) c.6505A= (p.Asn2169=) c.4492A= (p.Asn1498=) c.4042A= (p.Asn1348=) c.3250A= (p.Asn1084=) | |
| 8 | g.60853140A>C | CA371325105 | CHD7 | c.6415A>C (p.Asn2139His) c.1717-9089A>C (n.1717-9089A>C) c.6505A>C (p.Asn2169His) c.4492A>C (p.Asn1498His) c.4042A>C (p.Asn1348His) c.3250A>C (p.Asn1084His) | gnomAD v4 |
| 8 | g.60853140A>G | CA371325106 | CHD7 | c.6415A>G (p.Asn2139Asp) c.1717-9089A>G (n.1717-9089A>G) c.6505A>G (p.Asn2169Asp) c.4492A>G (p.Asn1498Asp) c.4042A>G (p.Asn1348Asp) c.3250A>G (p.Asn1084Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853140A>T | CA371325108 | CHD7 | c.6415A>T (p.Asn2139Tyr) c.1717-9089A>T (n.1717-9089A>T) c.6505A>T (p.Asn2169Tyr) c.4492A>T (p.Asn1498Tyr) c.4042A>T (p.Asn1348Tyr) c.3250A>T (p.Asn1084Tyr) | |
| 8 | g.60853141dup | CA2695209423 | CHD7 | c.6416dup (p.Asn2139LysfsTer27) c.1717-9088dup (n.1717-9088dup) c.6506dup (p.Asn2169LysfsTer27) c.4493dup (p.Asn1498LysfsTer27) c.4043dup (p.Asn1348LysfsTer27) c.3251dup (p.Asn1084LysfsTer27) | |
| 8 | g.60853141A>C | CA371325111 | CHD7 | c.6416A>C (p.Asn2139Thr) c.1717-9088A>C (n.1717-9088A>C) c.6506A>C (p.Asn2169Thr) c.4493A>C (p.Asn1498Thr) c.4043A>C (p.Asn1348Thr) c.3251A>C (p.Asn1084Thr) | |
| 8 | g.60853141A>G | CA371325113 | CHD7 | c.6416A>G (p.Asn2139Ser) c.1717-9088A>G (n.1717-9088A>G) c.6506A>G (p.Asn2169Ser) c.4493A>G (p.Asn1498Ser) c.4043A>G (p.Asn1348Ser) c.3251A>G (p.Asn1084Ser) | gnomAD v4 |
| 8 | g.60853141A>T | CA371325112 | CHD7 | c.6416A>T (p.Asn2139Ile) c.1717-9088A>T (n.1717-9088A>T) c.6506A>T (p.Asn2169Ile) c.4493A>T (p.Asn1498Ile) c.4043A>T (p.Asn1348Ile) c.3251A>T (p.Asn1084Ile) | |
| 8 | g.60853142T>A | CA371325115 | CHD7 | c.6417T>A (p.Asn2139Lys) c.1717-9087T>A (n.1717-9087T>A) c.6507T>A (p.Asn2169Lys) c.4494T>A (p.Asn1498Lys) c.4044T>A (p.Asn1348Lys) c.3252T>A (p.Asn1084Lys) | |
| 8 | g.60853142T>C | CA461105388 | CHD7 | c.6417T>C (p.Asn2139=) c.1717-9087T>C (n.1717-9087T>C) c.6507T>C (p.Asn2169=) c.4494T>C (p.Asn1498=) c.4044T>C (p.Asn1348=) c.3252T>C (p.Asn1084=) | |
| 8 | g.60853142T>G | CA371325117 | CHD7 | c.6417T>G (p.Asn2139Lys) c.1717-9087T>G (n.1717-9087T>G) c.6507T>G (p.Asn2169Lys) c.4494T>G (p.Asn1498Lys) c.4044T>G (p.Asn1348Lys) c.3252T>G (p.Asn1084Lys) | |
| 8 | g.60853143A>C | CA371325120 | CHD7 | c.6418A>C (p.Thr2140Pro) c.1717-9086A>C (n.1717-9086A>C) c.6508A>C (p.Thr2170Pro) c.4495A>C (p.Thr1499Pro) c.4045A>C (p.Thr1349Pro) c.3253A>C (p.Thr1085Pro) | |
| 8 | g.60853143A>G | CA371325123 | CHD7 | c.6418A>G (p.Thr2140Ala) c.1717-9086A>G (n.1717-9086A>G) c.6508A>G (p.Thr2170Ala) c.4495A>G (p.Thr1499Ala) c.4045A>G (p.Thr1349Ala) c.3253A>G (p.Thr1085Ala) | gnomAD v4 |
| 8 | g.60853143A>T | CA371325125 | CHD7 | c.6418A>T (p.Thr2140Ser) c.1717-9086A>T (n.1717-9086A>T) c.6508A>T (p.Thr2170Ser) c.4495A>T (p.Thr1499Ser) c.4045A>T (p.Thr1349Ser) c.3253A>T (p.Thr1085Ser) | |
| 8 | g.60853144C>A | CA371325131 | CHD7 | c.6419C>A (p.Thr2140Lys) c.1717-9085C>A (n.1717-9085C>A) c.6509C>A (p.Thr2170Lys) c.4496C>A (p.Thr1499Lys) c.4046C>A (p.Thr1349Lys) c.3254C>A (p.Thr1085Lys) | gnomAD v4 |
| 8 | g.60853144C= | CA1788103828 | CHD7 | c.6419C= (p.Thr2140=) c.1717-9085C= (n.1717-9085C=) c.6509C= (p.Thr2170=) c.4496C= (p.Thr1499=) c.4046C= (p.Thr1349=) c.3254C= (p.Thr1085=) | |
| 8 | g.60853144C>G | CA371325128 | CHD7 | c.6419C>G (p.Thr2140Arg) c.1717-9085C>G (n.1717-9085C>G) c.6509C>G (p.Thr2170Arg) c.4496C>G (p.Thr1499Arg) c.4046C>G (p.Thr1349Arg) c.3254C>G (p.Thr1085Arg) | |
| 8 | g.60853144C>T | CA177354108 | CHD7 | c.6419C>T (p.Thr2140Ile) c.1717-9085C>T (n.1717-9085C>T) c.6509C>T (p.Thr2170Ile) c.4496C>T (p.Thr1499Ile) c.4046C>T (p.Thr1349Ile) c.3254C>T (p.Thr1085Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853144_60853148del | CA2825001592 | CHD7 | c.6419_6423del (p.Thr2140IlefsTer24) c.1717-9085_1717-9081del (n.1717-9085_1717-9081del) c.6509_6513del (p.Thr2170IlefsTer24) c.4496_4500del (p.Thr1499IlefsTer24) c.4046_4050del (p.Thr1349IlefsTer24) c.3254_3258del (p.Thr1085IlefsTer24) | ClinVar |
| 8 | g.60853145A= | CA1788103830 | CHD7 | c.6420A= (p.Thr2140=) c.1717-9084A= (n.1717-9084A=) c.6510A= (p.Thr2170=) c.4497A= (p.Thr1499=) c.4047A= (p.Thr1349=) c.3255A= (p.Thr1085=) | |
| 8 | g.60853145A>C | CA461105390 | CHD7 | c.6420A>C (p.Thr2140=) c.1717-9084A>C (n.1717-9084A>C) c.6510A>C (p.Thr2170=) c.4497A>C (p.Thr1499=) c.4047A>C (p.Thr1349=) c.3255A>C (p.Thr1085=) | |
| 8 | g.60853145A>G | CA461105391 | CHD7 | c.6420A>G (p.Thr2140=) c.1717-9084A>G (n.1717-9084A>G) c.6510A>G (p.Thr2170=) c.4497A>G (p.Thr1499=) c.4047A>G (p.Thr1349=) c.3255A>G (p.Thr1085=) | dbSNP |
| 8 | g.60853145A>T | CA461105393 | CHD7 | c.6420A>T (p.Thr2140=) c.1717-9084A>T (n.1717-9084A>T) c.6510A>T (p.Thr2170=) c.4497A>T (p.Thr1499=) c.4047A>T (p.Thr1349=) c.3255A>T (p.Thr1085=) | |
| 8 | g.60853146T>A | CA371325133 | CHD7 | c.6421T>A (p.Ser2141Thr) c.1717-9083T>A (n.1717-9083T>A) c.6511T>A (p.Ser2171Thr) c.4498T>A (p.Ser1500Thr) c.4048T>A (p.Ser1350Thr) c.3256T>A (p.Ser1086Thr) | |
| 8 | g.60853146T>C | CA371325134 | CHD7 | c.6421T>C (p.Ser2141Pro) c.1717-9083T>C (n.1717-9083T>C) c.6511T>C (p.Ser2171Pro) c.4498T>C (p.Ser1500Pro) c.4048T>C (p.Ser1350Pro) c.3256T>C (p.Ser1086Pro) | |
| 8 | g.60853146T>G | CA371325135 | CHD7 | c.6421T>G (p.Ser2141Ala) c.1717-9083T>G (n.1717-9083T>G) c.6511T>G (p.Ser2171Ala) c.4498T>G (p.Ser1500Ala) c.4048T>G (p.Ser1350Ala) c.3256T>G (p.Ser1086Ala) | |
| 8 | g.60853147C>A | CA371325136 | CHD7 | c.6422C>A (p.Ser2141Tyr) c.1717-9082C>A (n.1717-9082C>A) c.6512C>A (p.Ser2171Tyr) c.4499C>A (p.Ser1500Tyr) c.4049C>A (p.Ser1350Tyr) c.3257C>A (p.Ser1086Tyr) | |
| 8 | g.60853147C>G | CA371325137 | CHD7 | c.6422C>G (p.Ser2141Cys) c.1717-9082C>G (n.1717-9082C>G) c.6512C>G (p.Ser2171Cys) c.4499C>G (p.Ser1500Cys) c.4049C>G (p.Ser1350Cys) c.3257C>G (p.Ser1086Cys) | |
| 8 | g.60853147C>T | CA371325138 | CHD7 | c.6422C>T (p.Ser2141Phe) c.1717-9082C>T (n.1717-9082C>T) c.6512C>T (p.Ser2171Phe) c.4499C>T (p.Ser1500Phe) c.4049C>T (p.Ser1350Phe) c.3257C>T (p.Ser1086Phe) | |
| 8 | g.60853148T>A | CA461105396 | CHD7 | c.6423T>A (p.Ser2141=) c.1717-9081T>A (n.1717-9081T>A) c.6513T>A (p.Ser2171=) c.4500T>A (p.Ser1500=) c.4050T>A (p.Ser1350=) c.3258T>A (p.Ser1086=) | |
| 8 | g.60853148T>C | CA461105395 | CHD7 | c.6423T>C (p.Ser2141=) c.1717-9081T>C (n.1717-9081T>C) c.6513T>C (p.Ser2171=) c.4500T>C (p.Ser1500=) c.4050T>C (p.Ser1350=) c.3258T>C (p.Ser1086=) | |
| 8 | g.60853148T>G | CA461105394 | CHD7 | c.6423T>G (p.Ser2141=) c.1717-9081T>G (n.1717-9081T>G) c.6513T>G (p.Ser2171=) c.4500T>G (p.Ser1500=) c.4050T>G (p.Ser1350=) c.3258T>G (p.Ser1086=) | |
| 8 | g.60853149T>A | CA371325140 | CHD7 | c.6424T>A (p.Ser2142Thr) c.1717-9080T>A (n.1717-9080T>A) c.6514T>A (p.Ser2172Thr) c.4501T>A (p.Ser1501Thr) c.4051T>A (p.Ser1351Thr) c.3259T>A (p.Ser1087Thr) | |
| 8 | g.60853149T>C | CA371325144 | CHD7 | c.6424T>C (p.Ser2142Pro) c.1717-9080T>C (n.1717-9080T>C) c.6514T>C (p.Ser2172Pro) c.4501T>C (p.Ser1501Pro) c.4051T>C (p.Ser1351Pro) c.3259T>C (p.Ser1087Pro) | |
| 8 | g.60853149T>G | CA371325142 | CHD7 | c.6424T>G (p.Ser2142Ala) c.1717-9080T>G (n.1717-9080T>G) c.6514T>G (p.Ser2172Ala) c.4501T>G (p.Ser1501Ala) c.4051T>G (p.Ser1351Ala) c.3259T>G (p.Ser1087Ala) | |
| 8 | g.60853150C>A | CA371325145 | CHD7 | c.6425C>A (p.Ser2142Tyr) c.1717-9079C>A (n.1717-9079C>A) c.6515C>A (p.Ser2172Tyr) c.4502C>A (p.Ser1501Tyr) c.4052C>A (p.Ser1351Tyr) c.3260C>A (p.Ser1087Tyr) | |
| 8 | g.60853150C>G | CA371325148 | CHD7 | c.6425C>G (p.Ser2142Cys) c.1717-9079C>G (n.1717-9079C>G) c.6515C>G (p.Ser2172Cys) c.4502C>G (p.Ser1501Cys) c.4052C>G (p.Ser1351Cys) c.3260C>G (p.Ser1087Cys) | ClinVar |
| 8 | g.60853150C>T | CA371325150 | CHD7 | c.6425C>T (p.Ser2142Phe) c.1717-9079C>T (n.1717-9079C>T) c.6515C>T (p.Ser2172Phe) c.4502C>T (p.Ser1501Phe) c.4052C>T (p.Ser1351Phe) c.3260C>T (p.Ser1087Phe) | COSMIC |
| 8 | g.60853151del | CA2580078860 | CHD7 | c.6426del (p.Leu2143Ter) c.1717-9078del (n.1717-9078del) c.6516del (p.Leu2173Ter) c.4503del (p.Leu1502Ter) c.4053del (p.Leu1352Ter) c.3261del (p.Leu1088Ter) | ClinVar |
| 8 | g.60853151C>A | CA461105405 | CHD7 | c.6426C>A (p.Ser2142=) c.1717-9078C>A (n.1717-9078C>A) c.6516C>A (p.Ser2172=) c.4503C>A (p.Ser1501=) c.4053C>A (p.Ser1351=) c.3261C>A (p.Ser1087=) | |
| 8 | g.60853151C>G | CA461105407 | CHD7 | c.6426C>G (p.Ser2142=) c.1717-9078C>G (n.1717-9078C>G) c.6516C>G (p.Ser2172=) c.4503C>G (p.Ser1501=) c.4053C>G (p.Ser1351=) c.3261C>G (p.Ser1087=) | |
| 8 | g.60853151C>T | CA461105406 | CHD7 | c.6426C>T (p.Ser2142=) c.1717-9078C>T (n.1717-9078C>T) c.6516C>T (p.Ser2172=) c.4503C>T (p.Ser1501=) c.4053C>T (p.Ser1351=) c.3261C>T (p.Ser1087=) | gnomAD v4 |
| 8 | g.60853152T>A | CA371325153 | CHD7 | c.6427T>A (p.Leu2143Met) c.1717-9077T>A (n.1717-9077T>A) c.6517T>A (p.Leu2173Met) c.4504T>A (p.Leu1502Met) c.4054T>A (p.Leu1352Met) c.3262T>A (p.Leu1088Met) | |
| 8 | g.60853152T>C | CA461105408 | CHD7 | c.6427T>C (p.Leu2143=) c.1717-9077T>C (n.1717-9077T>C) c.6517T>C (p.Leu2173=) c.4504T>C (p.Leu1502=) c.4054T>C (p.Leu1352=) c.3262T>C (p.Leu1088=) | |
| 8 | g.60853152T>G | CA371325158 | CHD7 | c.6427T>G (p.Leu2143Val) c.1717-9077T>G (n.1717-9077T>G) c.6517T>G (p.Leu2173Val) c.4504T>G (p.Leu1502Val) c.4054T>G (p.Leu1352Val) c.3262T>G (p.Leu1088Val) | |
| 8 | g.60853153T>A | CA371325161 | CHD7 | c.6428T>A (p.Leu2143Ter) c.1717-9076T>A (n.1717-9076T>A) c.6518T>A (p.Leu2173Ter) c.4505T>A (p.Leu1502Ter) c.4055T>A (p.Leu1352Ter) c.3263T>A (p.Leu1088Ter) | |
| 8 | g.60853153T>C | CA371325162 | CHD7 | c.6428T>C (p.Leu2143Ser) c.1717-9076T>C (n.1717-9076T>C) c.6518T>C (p.Leu2173Ser) c.4505T>C (p.Leu1502Ser) c.4055T>C (p.Leu1352Ser) c.3263T>C (p.Leu1088Ser) | |
| 8 | g.60853153T>G | CA371325163 | CHD7 | c.6428T>G (p.Leu2143Trp) c.1717-9076T>G (n.1717-9076T>G) c.6518T>G (p.Leu2173Trp) c.4505T>G (p.Leu1502Trp) c.4055T>G (p.Leu1352Trp) c.3263T>G (p.Leu1088Trp) | |
| 8 | g.60853154G>A | CA461105410 | CHD7 | c.6429G>A (p.Leu2143=) c.1717-9075G>A (n.1717-9075G>A) c.6519G>A (p.Leu2173=) c.4506G>A (p.Leu1502=) c.4056G>A (p.Leu1352=) c.3264G>A (p.Leu1088=) | dbSNP gnomAD v2 |
| 8 | g.60853154G>C | CA371325165 | CHD7 | c.6429G>C (p.Leu2143Phe) c.1717-9075G>C (n.1717-9075G>C) c.6519G>C (p.Leu2173Phe) c.4506G>C (p.Leu1502Phe) c.4056G>C (p.Leu1352Phe) c.3264G>C (p.Leu1088Phe) | |
| 8 | g.60853154G= | CA1788103833 | CHD7 | c.6429G= (p.Leu2143=) c.1717-9075G= (n.1717-9075G=) c.6519G= (p.Leu2173=) c.4506G= (p.Leu1502=) c.4056G= (p.Leu1352=) c.3264G= (p.Leu1088=) | |
| 8 | g.60853154G>T | CA371325167 | CHD7 | c.6429G>T (p.Leu2143Phe) c.1717-9075G>T (n.1717-9075G>T) c.6519G>T (p.Leu2173Phe) c.4506G>T (p.Leu1502Phe) c.4056G>T (p.Leu1352Phe) c.3264G>T (p.Leu1088Phe) | |
| 8 | g.60853155A>C | CA371325170 | CHD7 | c.6430A>C (p.Asn2144His) c.1717-9074A>C (n.1717-9074A>C) c.6520A>C (p.Asn2174His) c.4507A>C (p.Asn1503His) c.4057A>C (p.Asn1353His) c.3265A>C (p.Asn1089His) | |
| 8 | g.60853155A>G | CA371325175 | CHD7 | c.6430A>G (p.Asn2144Asp) c.1717-9074A>G (n.1717-9074A>G) c.6520A>G (p.Asn2174Asp) c.4507A>G (p.Asn1503Asp) c.4057A>G (p.Asn1353Asp) c.3265A>G (p.Asn1089Asp) | |
| 8 | g.60853155A>T | CA371325173 | CHD7 | c.6430A>T (p.Asn2144Tyr) c.1717-9074A>T (n.1717-9074A>T) c.6520A>T (p.Asn2174Tyr) c.4507A>T (p.Asn1503Tyr) c.4057A>T (p.Asn1353Tyr) c.3265A>T (p.Asn1089Tyr) | |
| 8 | g.60853156A= | CA1788103840 | CHD7 | c.6431A= (p.Asn2144=) c.1717-9073A= (n.1717-9073A=) c.6521A= (p.Asn2174=) c.4508A= (p.Asn1503=) c.4058A= (p.Asn1353=) c.3266A= (p.Asn1089=) | |
| 8 | g.60853156A>C | CA371325176 | CHD7 | c.6431A>C (p.Asn2144Thr) c.1717-9073A>C (n.1717-9073A>C) c.6521A>C (p.Asn2174Thr) c.4508A>C (p.Asn1503Thr) c.4058A>C (p.Asn1353Thr) c.3266A>C (p.Asn1089Thr) | ClinVar |
| 8 | g.60853156A>G | CA371325180 | CHD7 | c.6431A>G (p.Asn2144Ser) c.1717-9073A>G (n.1717-9073A>G) c.6521A>G (p.Asn2174Ser) c.4508A>G (p.Asn1503Ser) c.4058A>G (p.Asn1353Ser) c.3266A>G (p.Asn1089Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853156A>T | CA371325178 | CHD7 | c.6431A>T (p.Asn2144Ile) c.1717-9073A>T (n.1717-9073A>T) c.6521A>T (p.Asn2174Ile) c.4508A>T (p.Asn1503Ile) c.4058A>T (p.Asn1353Ile) c.3266A>T (p.Asn1089Ile) | |
| 8 | g.60853157C>A | CA371325183 | CHD7 | c.6432C>A (p.Asn2144Lys) c.1717-9072C>A (n.1717-9072C>A) c.6522C>A (p.Asn2174Lys) c.4509C>A (p.Asn1503Lys) c.4059C>A (p.Asn1353Lys) c.3267C>A (p.Asn1089Lys) | |
| 8 | g.60853157C= | CA1788103843 | CHD7 | c.6432C= (p.Asn2144=) c.1717-9072C= (n.1717-9072C=) c.6522C= (p.Asn2174=) c.4509C= (p.Asn1503=) c.4059C= (p.Asn1353=) c.3267C= (p.Asn1089=) | |
| 8 | g.60853157C>G | CA371325185 | CHD7 | c.6432C>G (p.Asn2144Lys) c.1717-9072C>G (n.1717-9072C>G) c.6522C>G (p.Asn2174Lys) c.4509C>G (p.Asn1503Lys) c.4059C>G (p.Asn1353Lys) c.3267C>G (p.Asn1089Lys) | |
| 8 | g.60853157C>T | CA461105413 | CHD7 | c.6432C>T (p.Asn2144=) c.1717-9072C>T (n.1717-9072C>T) c.6522C>T (p.Asn2174=) c.4509C>T (p.Asn1503=) c.4059C>T (p.Asn1353=) c.3267C>T (p.Asn1089=) | dbSNP gnomAD v2 |
| 8 | g.60853158C>A | CA371325187 | CHD7 | c.6433C>A (p.Pro2145Thr) c.1717-9071C>A (n.1717-9071C>A) c.6523C>A (p.Pro2175Thr) c.4510C>A (p.Pro1504Thr) c.4060C>A (p.Pro1354Thr) c.3268C>A (p.Pro1090Thr) | |
| 8 | g.60853158C= | CA1788103848 | CHD7 | c.6433C= (p.Pro2145=) c.1717-9071C= (n.1717-9071C=) c.6523C= (p.Pro2175=) c.4510C= (p.Pro1504=) c.4060C= (p.Pro1354=) c.3268C= (p.Pro1090=) | |
| 8 | g.60853158C>G | CA371325191 | CHD7 | c.6433C>G (p.Pro2145Ala) c.1717-9071C>G (n.1717-9071C>G) c.6523C>G (p.Pro2175Ala) c.4510C>G (p.Pro1504Ala) c.4060C>G (p.Pro1354Ala) c.3268C>G (p.Pro1090Ala) | dbSNP |
| 8 | g.60853158C>T | CA371325190 | CHD7 | c.6433C>T (p.Pro2145Ser) c.1717-9071C>T (n.1717-9071C>T) c.6523C>T (p.Pro2175Ser) c.4510C>T (p.Pro1504Ser) c.4060C>T (p.Pro1354Ser) c.3268C>T (p.Pro1090Ser) | ClinVar |
| 8 | g.60853159C>A | CA371325193 | CHD7 | c.6434C>A (p.Pro2145Gln) c.1717-9070C>A (n.1717-9070C>A) c.6524C>A (p.Pro2175Gln) c.4511C>A (p.Pro1504Gln) c.4061C>A (p.Pro1354Gln) c.3269C>A (p.Pro1090Gln) | |
| 8 | g.60853159C>G | CA371325196 | CHD7 | c.6434C>G (p.Pro2145Arg) c.1717-9070C>G (n.1717-9070C>G) c.6524C>G (p.Pro2175Arg) c.4511C>G (p.Pro1504Arg) c.4061C>G (p.Pro1354Arg) c.3269C>G (p.Pro1090Arg) | |
| 8 | g.60853159C>T | CA371325197 | CHD7 | c.6434C>T (p.Pro2145Leu) c.1717-9070C>T (n.1717-9070C>T) c.6524C>T (p.Pro2175Leu) c.4511C>T (p.Pro1504Leu) c.4061C>T (p.Pro1354Leu) c.3269C>T (p.Pro1090Leu) | |
| 8 | g.60853160A= | CA1788103857 | CHD7 | c.6435A= (p.Pro2145=) c.1717-9069A= (n.1717-9069A=) c.6525A= (p.Pro2175=) c.4512A= (p.Pro1504=) c.4062A= (p.Pro1354=) c.3270A= (p.Pro1090=) | |
| 8 | g.60853160A>C | CA461105420 | CHD7 | c.6435A>C (p.Pro2145=) c.1717-9069A>C (n.1717-9069A>C) c.6525A>C (p.Pro2175=) c.4512A>C (p.Pro1504=) c.4062A>C (p.Pro1354=) c.3270A>C (p.Pro1090=) | |
| 8 | g.60853160A>G | CA461105421 | CHD7 | c.6435A>G (p.Pro2145=) c.1717-9069A>G (n.1717-9069A>G) c.6525A>G (p.Pro2175=) c.4512A>G (p.Pro1504=) c.4062A>G (p.Pro1354=) c.3270A>G (p.Pro1090=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853160A>T | CA461105419 | CHD7 | c.6435A>T (p.Pro2145=) c.1717-9069A>T (n.1717-9069A>T) c.6525A>T (p.Pro2175=) c.4512A>T (p.Pro1504=) c.4062A>T (p.Pro1354=) c.3270A>T (p.Pro1090=) | |
| 8 | g.60853161C>A | CA371325199 | CHD7 | c.6436C>A (p.Leu2146Met) c.1717-9068C>A (n.1717-9068C>A) c.6526C>A (p.Leu2176Met) c.4513C>A (p.Leu1505Met) c.4063C>A (p.Leu1355Met) c.3271C>A (p.Leu1091Met) | |
| 8 | g.60853161C>G | CA371325201 | CHD7 | c.6436C>G (p.Leu2146Val) c.1717-9068C>G (n.1717-9068C>G) c.6526C>G (p.Leu2176Val) c.4513C>G (p.Leu1505Val) c.4063C>G (p.Leu1355Val) c.3271C>G (p.Leu1091Val) | gnomAD v4 |
| 8 | g.60853161C>T | CA461105422 | CHD7 | c.6436C>T (p.Leu2146=) c.1717-9068C>T (n.1717-9068C>T) c.6526C>T (p.Leu2176=) c.4513C>T (p.Leu1505=) c.4063C>T (p.Leu1355=) c.3271C>T (p.Leu1091=) | ClinVar dbSNP |
| 8 | g.60853162T>A | CA371325204 | CHD7 | c.6437T>A (p.Leu2146Gln) c.1717-9067T>A (n.1717-9067T>A) c.6527T>A (p.Leu2176Gln) c.4514T>A (p.Leu1505Gln) c.4064T>A (p.Leu1355Gln) c.3272T>A (p.Leu1091Gln) | |
| 8 | g.60853162T>C | CA243780 | CHD7 | c.6437T>C (p.Leu2146Pro) c.1717-9067T>C (n.1717-9067T>C) c.6527T>C (p.Leu2176Pro) c.4514T>C (p.Leu1505Pro) c.4064T>C (p.Leu1355Pro) c.3272T>C (p.Leu1091Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853162T>G | CA371325206 | CHD7 | c.6437T>G (p.Leu2146Arg) c.1717-9067T>G (n.1717-9067T>G) c.6527T>G (p.Leu2176Arg) c.4514T>G (p.Leu1505Arg) c.4064T>G (p.Leu1355Arg) c.3272T>G (p.Leu1091Arg) | |
| 8 | g.60853162T= | CA1788103868 | CHD7 | c.6437T= (p.Leu2146=) c.1717-9067T= (n.1717-9067T=) c.6527T= (p.Leu2176=) c.4514T= (p.Leu1505=) c.4064T= (p.Leu1355=) c.3272T= (p.Leu1091=) | |
| 8 | g.60853163G>A | CA461105426 | CHD7 | c.6438G>A (p.Leu2146=) c.1717-9066G>A (n.1717-9066G>A) c.6528G>A (p.Leu2176=) c.4515G>A (p.Leu1505=) c.4065G>A (p.Leu1355=) c.3273G>A (p.Leu1091=) | |
| 8 | g.60853163G>C | CA461105427 | CHD7 | c.6438G>C (p.Leu2146=) c.1717-9066G>C (n.1717-9066G>C) c.6528G>C (p.Leu2176=) c.4515G>C (p.Leu1505=) c.4065G>C (p.Leu1355=) c.3273G>C (p.Leu1091=) | dbSNP |
| 8 | g.60853163G>T | CA461105429 | CHD7 | c.6438G>T (p.Leu2146=) c.1717-9066G>T (n.1717-9066G>T) c.6528G>T (p.Leu2176=) c.4515G>T (p.Leu1505=) c.4065G>T (p.Leu1355=) c.3273G>T (p.Leu1091=) | |
| 8 | g.60853164G>A | CA4760587 | CHD7 | c.6439G>A (p.Ala2147Thr) c.1717-9065G>A (n.1717-9065G>A) c.6529G>A (p.Ala2177Thr) c.4516G>A (p.Ala1506Thr) c.4066G>A (p.Ala1356Thr) c.3274G>A (p.Ala1092Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853164G>C | CA371325210 | CHD7 | c.6439G>C (p.Ala2147Pro) c.1717-9065G>C (n.1717-9065G>C) c.6529G>C (p.Ala2177Pro) c.4516G>C (p.Ala1506Pro) c.4066G>C (p.Ala1356Pro) c.3274G>C (p.Ala1092Pro) | |
| 8 | g.60853164G= | CA1788103876 | CHD7 | c.6439G= (p.Ala2147=) c.1717-9065G= (n.1717-9065G=) c.6529G= (p.Ala2177=) c.4516G= (p.Ala1506=) c.4066G= (p.Ala1356=) c.3274G= (p.Ala1092=) | |
| 8 | g.60853164G>T | CA371325213 | CHD7 | c.6439G>T (p.Ala2147Ser) c.1717-9065G>T (n.1717-9065G>T) c.6529G>T (p.Ala2177Ser) c.4516G>T (p.Ala1506Ser) c.4066G>T (p.Ala1356Ser) c.3274G>T (p.Ala1092Ser) | |
| 8 | g.60853165C>A | CA371325219 | CHD7 | c.6440C>A (p.Ala2147Glu) c.1717-9064C>A (n.1717-9064C>A) c.6530C>A (p.Ala2177Glu) c.4517C>A (p.Ala1506Glu) c.4067C>A (p.Ala1356Glu) c.3275C>A (p.Ala1092Glu) | |
| 8 | g.60853165C= | CA1788103879 | CHD7 | c.6440C= (p.Ala2147=) c.1717-9064C= (n.1717-9064C=) c.6530C= (p.Ala2177=) c.4517C= (p.Ala1506=) c.4067C= (p.Ala1356=) c.3275C= (p.Ala1092=) | |
| 8 | g.60853165C>G | CA177354113 | CHD7 | c.6440C>G (p.Ala2147Gly) c.1717-9064C>G (n.1717-9064C>G) c.6530C>G (p.Ala2177Gly) c.4517C>G (p.Ala1506Gly) c.4067C>G (p.Ala1356Gly) c.3275C>G (p.Ala1092Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853165C>T | CA371325216 | CHD7 | c.6440C>T (p.Ala2147Val) c.1717-9064C>T (n.1717-9064C>T) c.6530C>T (p.Ala2177Val) c.4517C>T (p.Ala1506Val) c.4067C>T (p.Ala1356Val) c.3275C>T (p.Ala1092Val) | dbSNP |
| 8 | g.60853166A>C | CA461105432 | CHD7 | c.6441A>C (p.Ala2147=) c.1717-9063A>C (n.1717-9063A>C) c.6531A>C (p.Ala2177=) c.4518A>C (p.Ala1506=) c.4068A>C (p.Ala1356=) c.3276A>C (p.Ala1092=) | |
| 8 | g.60853166A>G | CA461105435 | CHD7 | c.6441A>G (p.Ala2147=) c.1717-9063A>G (n.1717-9063A>G) c.6531A>G (p.Ala2177=) c.4518A>G (p.Ala1506=) c.4068A>G (p.Ala1356=) c.3276A>G (p.Ala1092=) | |
| 8 | g.60853166A>T | CA461105437 | CHD7 | c.6441A>T (p.Ala2147=) c.1717-9063A>T (n.1717-9063A>T) c.6531A>T (p.Ala2177=) c.4518A>T (p.Ala1506=) c.4068A>T (p.Ala1356=) c.3276A>T (p.Ala1092=) | |
| 8 | g.60853167G>A | CA371325220 | CHD7 | c.6442G>A (p.Val2148Ile) c.1717-9062G>A (n.1717-9062G>A) c.6532G>A (p.Val2178Ile) c.4519G>A (p.Val1507Ile) c.4069G>A (p.Val1357Ile) c.3277G>A (p.Val1093Ile) | |
| 8 | g.60853167G>C | CA371325222 | CHD7 | c.6442G>C (p.Val2148Leu) c.1717-9062G>C (n.1717-9062G>C) c.6532G>C (p.Val2178Leu) c.4519G>C (p.Val1507Leu) c.4069G>C (p.Val1357Leu) c.3277G>C (p.Val1093Leu) | |
| 8 | g.60853167G>T | CA371325223 | CHD7 | c.6442G>T (p.Val2148Phe) c.1717-9062G>T (n.1717-9062G>T) c.6532G>T (p.Val2178Phe) c.4519G>T (p.Val1507Phe) c.4069G>T (p.Val1357Phe) c.3277G>T (p.Val1093Phe) | |
| 8 | g.60853168T>A | CA371325225 | CHD7 | c.6443T>A (p.Val2148Asp) c.1717-9061T>A (n.1717-9061T>A) c.6533T>A (p.Val2178Asp) c.4520T>A (p.Val1507Asp) c.4070T>A (p.Val1357Asp) c.3278T>A (p.Val1093Asp) | |
| 8 | g.60853168T>C | CA371325227 | CHD7 | c.6443T>C (p.Val2148Ala) c.1717-9061T>C (n.1717-9061T>C) c.6533T>C (p.Val2178Ala) c.4520T>C (p.Val1507Ala) c.4070T>C (p.Val1357Ala) c.3278T>C (p.Val1093Ala) | |
| 8 | g.60853168T>G | CA371325229 | CHD7 | c.6443T>G (p.Val2148Gly) c.1717-9061T>G (n.1717-9061T>G) c.6533T>G (p.Val2178Gly) c.4520T>G (p.Val1507Gly) c.4070T>G (p.Val1357Gly) c.3278T>G (p.Val1093Gly) | |
| 8 | g.60853169T>A | CA461105439 | CHD7 | c.6444T>A (p.Val2148=) c.1717-9060T>A (n.1717-9060T>A) c.6534T>A (p.Val2178=) c.4521T>A (p.Val1507=) c.4071T>A (p.Val1357=) c.3279T>A (p.Val1093=) | |
| 8 | g.60853169T>C | CA461105441 | CHD7 | c.6444T>C (p.Val2148=) c.1717-9060T>C (n.1717-9060T>C) c.6534T>C (p.Val2178=) c.4521T>C (p.Val1507=) c.4071T>C (p.Val1357=) c.3279T>C (p.Val1093=) | |
| 8 | g.60853169T>G | CA461105442 | CHD7 | c.6444T>G (p.Val2148=) c.1717-9060T>G (n.1717-9060T>G) c.6534T>G (p.Val2178=) c.4521T>G (p.Val1507=) c.4071T>G (p.Val1357=) c.3279T>G (p.Val1093=) | |
| 8 | g.60853169_60853170delinsTG | CA1788103888 | CHD7 | c.6444_6445delinsTG (p.Val2148=) c.1717-9060_1717-9059delinsTG (n.1717-9060_1717-9059delinsTG) c.6534_6535delinsTG (p.Val2178=) c.4521_4522delinsTG (p.Val1507=) c.4071_4072delinsTG (p.Val1357=) c.3279_3280delinsTG (p.Val1093=) | |
| 8 | g.60853170G>A | CA371325232 | CHD7 | c.6445G>A (p.Gly2149Arg) c.1717-9059G>A (n.1717-9059G>A) c.6535G>A (p.Gly2179Arg) c.4522G>A (p.Gly1508Arg) c.4072G>A (p.Gly1358Arg) c.3280G>A (p.Gly1094Arg) | |
| 8 | g.60853170G>C | CA371325234 | CHD7 | c.6445G>C (p.Gly2149Arg) c.1717-9059G>C (n.1717-9059G>C) c.6535G>C (p.Gly2179Arg) c.4522G>C (p.Gly1508Arg) c.4072G>C (p.Gly1358Arg) c.3280G>C (p.Gly1094Arg) | |
| 8 | g.60853170G>T | CA371325235 | CHD7 | c.6445G>T (p.Gly2149Ter) c.1717-9059G>T (n.1717-9059G>T) c.6535G>T (p.Gly2179Ter) c.4522G>T (p.Gly1508Ter) c.4072G>T (p.Gly1358Ter) c.3280G>T (p.Gly1094Ter) | |
| 8 | g.60853171del | CA277207 | CHD7 | c.6446del (p.Gly2149AspfsTer?) c.1717-9058del (n.1717-9058del) c.6536del (p.Gly2179AspfsTer?) c.4523del (p.Gly1508AspfsTer?) c.4073del (p.Gly1358AspfsTer?) c.3281del (p.Gly1094AspfsTer?) | ClinVar dbSNP |
| 8 | g.60853171G>A | CA371325237 | CHD7 | c.6446G>A (p.Gly2149Glu) c.1717-9058G>A (n.1717-9058G>A) c.6536G>A (p.Gly2179Glu) c.4523G>A (p.Gly1508Glu) c.4073G>A (p.Gly1358Glu) c.3281G>A (p.Gly1094Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853171G>C | CA371325239 | CHD7 | c.6446G>C (p.Gly2149Ala) c.1717-9058G>C (n.1717-9058G>C) c.6536G>C (p.Gly2179Ala) c.4523G>C (p.Gly1508Ala) c.4073G>C (p.Gly1358Ala) c.3281G>C (p.Gly1094Ala) | |
| 8 | g.60853171G= | CA1788103908 | CHD7 | c.6446G= (p.Gly2149=) c.1717-9058G= (n.1717-9058G=) c.6536G= (p.Gly2179=) c.4523G= (p.Gly1508=) c.4073G= (p.Gly1358=) c.3281G= (p.Gly1094=) | |
| 8 | g.60853171G>T | CA4760588 | CHD7 | c.6446G>T (p.Gly2149Val) c.1717-9058G>T (n.1717-9058G>T) c.6536G>T (p.Gly2179Val) c.4523G>T (p.Gly1508Val) c.4073G>T (p.Gly1358Val) c.3281G>T (p.Gly1094Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853172A>C | CA461105448 | CHD7 | c.6447A>C (p.Gly2149=) c.1717-9057A>C (n.1717-9057A>C) c.6537A>C (p.Gly2179=) c.4524A>C (p.Gly1508=) c.4074A>C (p.Gly1358=) c.3282A>C (p.Gly1094=) | |
| 8 | g.60853172A>G | CA461105449 | CHD7 | c.6447A>G (p.Gly2149=) c.1717-9057A>G (n.1717-9057A>G) c.6537A>G (p.Gly2179=) c.4524A>G (p.Gly1508=) c.4074A>G (p.Gly1358=) c.3282A>G (p.Gly1094=) | |
| 8 | g.60853172A>T | CA461105451 | CHD7 | c.6447A>T (p.Gly2149=) c.1717-9057A>T (n.1717-9057A>T) c.6537A>T (p.Gly2179=) c.4524A>T (p.Gly1508=) c.4074A>T (p.Gly1358=) c.3282A>T (p.Gly1094=) | |
| 8 | g.60853173T>A | CA371325241 | CHD7 | c.6448T>A (p.Phe2150Ile) c.1717-9056T>A (n.1717-9056T>A) c.6538T>A (p.Phe2180Ile) c.4525T>A (p.Phe1509Ile) c.4075T>A (p.Phe1359Ile) c.3283T>A (p.Phe1095Ile) | |
| 8 | g.60853173T>C | CA371325243 | CHD7 | c.6448T>C (p.Phe2150Leu) c.1717-9056T>C (n.1717-9056T>C) c.6538T>C (p.Phe2180Leu) c.4525T>C (p.Phe1509Leu) c.4075T>C (p.Phe1359Leu) c.3283T>C (p.Phe1095Leu) | |
| 8 | g.60853173T>G | CA371325245 | CHD7 | c.6448T>G (p.Phe2150Val) c.1717-9056T>G (n.1717-9056T>G) c.6538T>G (p.Phe2180Val) c.4525T>G (p.Phe1509Val) c.4075T>G (p.Phe1359Val) c.3283T>G (p.Phe1095Val) | |
| 8 | g.60853175del | CA2739289517 | CHD7 | c.6450del (p.Phe2150LeufsTer?) c.1717-9054del (n.1717-9054del) c.6540del (p.Phe2180LeufsTer?) c.4527del (p.Phe1509LeufsTer?) c.4077del (p.Phe1359LeufsTer?) c.3285del (p.Phe1095LeufsTer?) | |
| 8 | g.60853174T>A | CA371325249 | CHD7 | c.6449T>A (p.Phe2150Tyr) c.1717-9055T>A (n.1717-9055T>A) c.6539T>A (p.Phe2180Tyr) c.4526T>A (p.Phe1509Tyr) c.4076T>A (p.Phe1359Tyr) c.3284T>A (p.Phe1095Tyr) | |
| 8 | g.60853174T>C | CA371325250 | CHD7 | c.6449T>C (p.Phe2150Ser) c.1717-9055T>C (n.1717-9055T>C) c.6539T>C (p.Phe2180Ser) c.4526T>C (p.Phe1509Ser) c.4076T>C (p.Phe1359Ser) c.3284T>C (p.Phe1095Ser) | |
| 8 | g.60853174T>G | CA371325252 | CHD7 | c.6449T>G (p.Phe2150Cys) c.1717-9055T>G (n.1717-9055T>G) c.6539T>G (p.Phe2180Cys) c.4526T>G (p.Phe1509Cys) c.4076T>G (p.Phe1359Cys) c.3284T>G (p.Phe1095Cys) | |
| 8 | g.60853175T>A | CA371325254 | CHD7 | c.6450T>A (p.Phe2150Leu) c.1717-9054T>A (n.1717-9054T>A) c.6540T>A (p.Phe2180Leu) c.4527T>A (p.Phe1509Leu) c.4077T>A (p.Phe1359Leu) c.3285T>A (p.Phe1095Leu) | ClinVar |
| 8 | g.60853175T>C | CA461105453 | CHD7 | c.6450T>C (p.Phe2150=) c.1717-9054T>C (n.1717-9054T>C) c.6540T>C (p.Phe2180=) c.4527T>C (p.Phe1509=) c.4077T>C (p.Phe1359=) c.3285T>C (p.Phe1095=) | |
| 8 | g.60853175T>G | CA371325256 | CHD7 | c.6450T>G (p.Phe2150Leu) c.1717-9054T>G (n.1717-9054T>G) c.6540T>G (p.Phe2180Leu) c.4527T>G (p.Phe1509Leu) c.4077T>G (p.Phe1359Leu) c.3285T>G (p.Phe1095Leu) | |
| 8 | g.60853176G>A | CA371325259 | CHD7 | c.6451G>A (p.Val2151Ile) c.1717-9053G>A (n.1717-9053G>A) c.6541G>A (p.Val2181Ile) c.4528G>A (p.Val1510Ile) c.4078G>A (p.Val1360Ile) c.3286G>A (p.Val1096Ile) | dbSNP |
| 8 | g.60853176G>C | CA371325260 | CHD7 | c.6451G>C (p.Val2151Leu) c.1717-9053G>C (n.1717-9053G>C) c.6541G>C (p.Val2181Leu) c.4528G>C (p.Val1510Leu) c.4078G>C (p.Val1360Leu) c.3286G>C (p.Val1096Leu) | |
| 8 | g.60853176G= | CA1788103916 | CHD7 | c.6451G= (p.Val2151=) c.1717-9053G= (n.1717-9053G=) c.6541G= (p.Val2181=) c.4528G= (p.Val1510=) c.4078G= (p.Val1360=) c.3286G= (p.Val1096=) | |
| 8 | g.60853176G>T | CA371325263 | CHD7 | c.6451G>T (p.Val2151Phe) c.1717-9053G>T (n.1717-9053G>T) c.6541G>T (p.Val2181Phe) c.4528G>T (p.Val1510Phe) c.4078G>T (p.Val1360Phe) c.3286G>T (p.Val1096Phe) | |
| 8 | g.60853177T>A | CA371325269 | CHD7 | c.6452T>A (p.Val2151Asp) c.1717-9052T>A (n.1717-9052T>A) c.6542T>A (p.Val2181Asp) c.4529T>A (p.Val1510Asp) c.4079T>A (p.Val1360Asp) c.3287T>A (p.Val1096Asp) | |
| 8 | g.60853177T>C | CA371325268 | CHD7 | c.6452T>C (p.Val2151Ala) c.1717-9052T>C (n.1717-9052T>C) c.6542T>C (p.Val2181Ala) c.4529T>C (p.Val1510Ala) c.4079T>C (p.Val1360Ala) c.3287T>C (p.Val1096Ala) | gnomAD v4 |
| 8 | g.60853177T>G | CA371325265 | CHD7 | c.6452T>G (p.Val2151Gly) c.1717-9052T>G (n.1717-9052T>G) c.6542T>G (p.Val2181Gly) c.4529T>G (p.Val1510Gly) c.4079T>G (p.Val1360Gly) c.3287T>G (p.Val1096Gly) | |
| 8 | g.60853178C>A | CA461105461 | CHD7 | c.6453C>A (p.Val2151=) c.1717-9051C>A (n.1717-9051C>A) c.6543C>A (p.Val2181=) c.4530C>A (p.Val1510=) c.4080C>A (p.Val1360=) c.3288C>A (p.Val1096=) | |
| 8 | g.60853178C= | CA1788103921 | CHD7 | c.6453C= (p.Val2151=) c.1717-9051C= (n.1717-9051C=) c.6543C= (p.Val2181=) c.4530C= (p.Val1510=) c.4080C= (p.Val1360=) c.3288C= (p.Val1096=) | |
| 8 | g.60853178C>G | CA4760590 | CHD7 | c.6453C>G (p.Val2151=) c.1717-9051C>G (n.1717-9051C>G) c.6543C>G (p.Val2181=) c.4530C>G (p.Val1510=) c.4080C>G (p.Val1360=) c.3288C>G (p.Val1096=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853178C>T | CA4760589 | CHD7 | c.6453C>T (p.Val2151=) c.1717-9051C>T (n.1717-9051C>T) c.6543C>T (p.Val2181=) c.4530C>T (p.Val1510=) c.4080C>T (p.Val1360=) c.3288C>T (p.Val1096=) | dbSNP ExAC gnomAD v2 COSMIC |
| 8 | g.60853179C>A | CA371325274 | CHD7 | c.6454C>A (p.Gln2152Lys) c.1717-9050C>A (n.1717-9050C>A) c.6544C>A (p.Gln2182Lys) c.4531C>A (p.Gln1511Lys) c.4081C>A (p.Gln1361Lys) c.3289C>A (p.Gln1097Lys) | |
| 8 | g.60853179C= | CA1788103927 | CHD7 | c.6454C= (p.Gln2152=) c.1717-9050C= (n.1717-9050C=) c.6544C= (p.Gln2182=) c.4531C= (p.Gln1511=) c.4081C= (p.Gln1361=) c.3289C= (p.Gln1097=) | |
| 8 | g.60853179C>G | CA4760591 | CHD7 | c.6454C>G (p.Gln2152Glu) c.1717-9050C>G (n.1717-9050C>G) c.6544C>G (p.Gln2182Glu) c.4531C>G (p.Gln1511Glu) c.4081C>G (p.Gln1361Glu) c.3289C>G (p.Gln1097Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853179C>T | CA371325277 | CHD7 | c.6454C>T (p.Gln2152Ter) c.1717-9050C>T (n.1717-9050C>T) c.6544C>T (p.Gln2182Ter) c.4531C>T (p.Gln1511Ter) c.4081C>T (p.Gln1361Ter) c.3289C>T (p.Gln1097Ter) | ClinVar dbSNP |
| 8 | g.60853180A>C | CA371325279 | CHD7 | c.6455A>C (p.Gln2152Pro) c.1717-9049A>C (n.1717-9049A>C) c.6545A>C (p.Gln2182Pro) c.4532A>C (p.Gln1511Pro) c.4082A>C (p.Gln1361Pro) c.3290A>C (p.Gln1097Pro) | |
| 8 | g.60853180A>G | CA371325282 | CHD7 | c.6455A>G (p.Gln2152Arg) c.1717-9049A>G (n.1717-9049A>G) c.6545A>G (p.Gln2182Arg) c.4532A>G (p.Gln1511Arg) c.4082A>G (p.Gln1361Arg) c.3290A>G (p.Gln1097Arg) | |
| 8 | g.60853180A>T | CA371325283 | CHD7 | c.6455A>T (p.Gln2152Leu) c.1717-9049A>T (n.1717-9049A>T) c.6545A>T (p.Gln2182Leu) c.4532A>T (p.Gln1511Leu) c.4082A>T (p.Gln1361Leu) c.3290A>T (p.Gln1097Leu) | |
| 8 | g.60853181G>A | CA461105043 | CHD7 | c.6456G>A (p.Gln2152=) c.1717-9048G>A (n.1717-9048G>A) c.6546G>A (p.Gln2182=) c.4533G>A (p.Gln1511=) c.4083G>A (p.Gln1361=) c.3291G>A (p.Gln1097=) | |
| 8 | g.60853181G>C | CA4760592 | CHD7 | c.6456G>C (p.Gln2152His) c.1717-9048G>C (n.1717-9048G>C) c.6546G>C (p.Gln2182His) c.4533G>C (p.Gln1511His) c.4083G>C (p.Gln1361His) c.3291G>C (p.Gln1097His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853181G= | CA1788103953 | CHD7 | c.6456G= (p.Gln2152=) c.1717-9048G= (n.1717-9048G=) c.6546G= (p.Gln2182=) c.4533G= (p.Gln1511=) c.4083G= (p.Gln1361=) c.3291G= (p.Gln1097=) | |
| 8 | g.60853181G>T | CA371325287 | CHD7 | c.6456G>T (p.Gln2152His) c.1717-9048G>T (n.1717-9048G>T) c.6546G>T (p.Gln2182His) c.4533G>T (p.Gln1511His) c.4083G>T (p.Gln1361His) c.3291G>T (p.Gln1097His) | ClinVar gnomAD v4 |
| 8 | g.60853182A= | CA1788103973 | CHD7 | c.6457A= (p.Thr2153=) c.1717-9047A= (n.1717-9047A=) c.6547A= (p.Thr2183=) c.4534A= (p.Thr1512=) c.4084A= (p.Thr1362=) c.3292A= (p.Thr1098=) | |
| 8 | g.60853182A>C | CA371325291 | CHD7 | c.6457A>C (p.Thr2153Pro) c.1717-9047A>C (n.1717-9047A>C) c.6547A>C (p.Thr2183Pro) c.4534A>C (p.Thr1512Pro) c.4084A>C (p.Thr1362Pro) c.3292A>C (p.Thr1098Pro) | |
| 8 | g.60853182A>G | CA371325293 | CHD7 | c.6457A>G (p.Thr2153Ala) c.1717-9047A>G (n.1717-9047A>G) c.6547A>G (p.Thr2183Ala) c.4534A>G (p.Thr1512Ala) c.4084A>G (p.Thr1362Ala) c.3292A>G (p.Thr1098Ala) | dbSNP |
| 8 | g.60853182A>T | CA371325294 | CHD7 | c.6457A>T (p.Thr2153Ser) c.1717-9047A>T (n.1717-9047A>T) c.6547A>T (p.Thr2183Ser) c.4534A>T (p.Thr1512Ser) c.4084A>T (p.Thr1362Ser) c.3292A>T (p.Thr1098Ser) | |
| 8 | g.60853183C>A | CA371325298 | CHD7 | c.6458C>A (p.Thr2153Asn) c.1717-9046C>A (n.1717-9046C>A) c.6548C>A (p.Thr2183Asn) c.4535C>A (p.Thr1512Asn) c.4085C>A (p.Thr1362Asn) c.3293C>A (p.Thr1098Asn) | |
| 8 | g.60853183C>G | CA371325301 | CHD7 | c.6458C>G (p.Thr2153Ser) c.1717-9046C>G (n.1717-9046C>G) c.6548C>G (p.Thr2183Ser) c.4535C>G (p.Thr1512Ser) c.4085C>G (p.Thr1362Ser) c.3293C>G (p.Thr1098Ser) | |
| 8 | g.60853183C>T | CA371325296 | CHD7 | c.6458C>T (p.Thr2153Ile) c.1717-9046C>T (n.1717-9046C>T) c.6548C>T (p.Thr2183Ile) c.4535C>T (p.Thr1512Ile) c.4085C>T (p.Thr1362Ile) c.3293C>T (p.Thr1098Ile) | |
| 8 | g.60853184T>A | CA461105044 | CHD7 | c.6459T>A (p.Thr2153=) c.1717-9045T>A (n.1717-9045T>A) c.6549T>A (p.Thr2183=) c.4536T>A (p.Thr1512=) c.4086T>A (p.Thr1362=) c.3294T>A (p.Thr1098=) | |
| 8 | g.60853184T>C | CA461105045 | CHD7 | c.6459T>C (p.Thr2153=) c.1717-9045T>C (n.1717-9045T>C) c.6549T>C (p.Thr2183=) c.4536T>C (p.Thr1512=) c.4086T>C (p.Thr1362=) c.3294T>C (p.Thr1098=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853184T>G | CA461105046 | CHD7 | c.6459T>G (p.Thr2153=) c.1717-9045T>G (n.1717-9045T>G) c.6549T>G (p.Thr2183=) c.4536T>G (p.Thr1512=) c.4086T>G (p.Thr1362=) c.3294T>G (p.Thr1098=) | gnomAD v4 |
| 8 | g.60853184T= | CA1788103977 | CHD7 | c.6459T= (p.Thr2153=) c.1717-9045T= (n.1717-9045T=) c.6549T= (p.Thr2183=) c.4536T= (p.Thr1512=) c.4086T= (p.Thr1362=) c.3294T= (p.Thr1098=) | |
| 8 | g.60853185C>A | CA371325303 | CHD7 | c.6460C>A (p.Pro2154Thr) c.1717-9044C>A (n.1717-9044C>A) c.6550C>A (p.Pro2184Thr) c.4537C>A (p.Pro1513Thr) c.4087C>A (p.Pro1363Thr) c.3295C>A (p.Pro1099Thr) | |
| 8 | g.60853185C>G | CA371325305 | CHD7 | c.6460C>G (p.Pro2154Ala) c.1717-9044C>G (n.1717-9044C>G) c.6550C>G (p.Pro2184Ala) c.4537C>G (p.Pro1513Ala) c.4087C>G (p.Pro1363Ala) c.3295C>G (p.Pro1099Ala) | |
| 8 | g.60853185C>T | CA371325308 | CHD7 | c.6460C>T (p.Pro2154Ser) c.1717-9044C>T (n.1717-9044C>T) c.6550C>T (p.Pro2184Ser) c.4537C>T (p.Pro1513Ser) c.4087C>T (p.Pro1363Ser) c.3295C>T (p.Pro1099Ser) | |
| 8 | g.60853186del | CA2695209424 | CHD7 | c.6461del (p.Pro2154LeufsTer?) c.1717-9043del (n.1717-9043del) c.6551del (p.Pro2184LeufsTer?) c.4538del (p.Pro1513LeufsTer?) c.4088del (p.Pro1363LeufsTer?) c.3296del (p.Pro1099LeufsTer?) | |
| 8 | g.60853186C>A | CA371325310 | CHD7 | c.6461C>A (p.Pro2154His) c.1717-9043C>A (n.1717-9043C>A) c.6551C>A (p.Pro2184His) c.4538C>A (p.Pro1513His) c.4088C>A (p.Pro1363His) c.3296C>A (p.Pro1099His) | |
| 8 | g.60853186C= | CA1788103984 | CHD7 | c.6461C= (p.Pro2154=) c.1717-9043C= (n.1717-9043C=) c.6551C= (p.Pro2184=) c.4538C= (p.Pro1513=) c.4088C= (p.Pro1363=) c.3296C= (p.Pro1099=) | |
| 8 | g.60853186C>G | CA371325312 | CHD7 | c.6461C>G (p.Pro2154Arg) c.1717-9043C>G (n.1717-9043C>G) c.6551C>G (p.Pro2184Arg) c.4538C>G (p.Pro1513Arg) c.4088C>G (p.Pro1363Arg) c.3296C>G (p.Pro1099Arg) | |
| 8 | g.60853186C>T | CA371325314 | CHD7 | c.6461C>T (p.Pro2154Leu) c.1717-9043C>T (n.1717-9043C>T) c.6551C>T (p.Pro2184Leu) c.4538C>T (p.Pro1513Leu) c.4088C>T (p.Pro1363Leu) c.3296C>T (p.Pro1099Leu) | ClinVar dbSNP |
| 8 | g.60853186delinsTT | CA2695209425 | CHD7 | c.6461delinsTT (p.Pro2154LeufsTer12) c.1717-9043delinsTT (n.1717-9043delinsTT) c.6551delinsTT (p.Pro2184LeufsTer12) c.4538delinsTT (p.Pro1513LeufsTer12) c.4088delinsTT (p.Pro1363LeufsTer12) c.3296delinsTT (p.Pro1099LeufsTer12) | |
| 8 | g.60853187T>A | CA461105047 | CHD7 | c.6462T>A (p.Pro2154=) c.1717-9042T>A (n.1717-9042T>A) c.6552T>A (p.Pro2184=) c.4539T>A (p.Pro1513=) c.4089T>A (p.Pro1363=) c.3297T>A (p.Pro1099=) | gnomAD v4 |
| 8 | g.60853187T>C | CA461105048 | CHD7 | c.6462T>C (p.Pro2154=) c.1717-9042T>C (n.1717-9042T>C) c.6552T>C (p.Pro2184=) c.4539T>C (p.Pro1513=) c.4089T>C (p.Pro1363=) c.3297T>C (p.Pro1099=) | |
| 8 | g.60853187T>G | CA461105049 | CHD7 | c.6462T>G (p.Pro2154=) c.1717-9042T>G (n.1717-9042T>G) c.6552T>G (p.Pro2184=) c.4539T>G (p.Pro1513=) c.4089T>G (p.Pro1363=) c.3297T>G (p.Pro1099=) | |
| 8 | g.60853188C>A | CA371325315 | CHD7 | c.6463C>A (p.Pro2155Thr) c.1717-9041C>A (n.1717-9041C>A) c.6553C>A (p.Pro2185Thr) c.4540C>A (p.Pro1514Thr) c.4090C>A (p.Pro1364Thr) c.3298C>A (p.Pro1100Thr) | |
| 8 | g.60853188C= | CA1788103993 | CHD7 | c.6463C= (p.Pro2155=) c.1717-9041C= (n.1717-9041C=) c.6553C= (p.Pro2185=) c.4540C= (p.Pro1514=) c.4090C= (p.Pro1364=) c.3298C= (p.Pro1100=) | |
| 8 | g.60853188C>G | CA371325317 | CHD7 | c.6463C>G (p.Pro2155Ala) c.1717-9041C>G (n.1717-9041C>G) c.6553C>G (p.Pro2185Ala) c.4540C>G (p.Pro1514Ala) c.4090C>G (p.Pro1364Ala) c.3298C>G (p.Pro1100Ala) | |
| 8 | g.60853188C>T | CA371325318 | CHD7 | c.6463C>T (p.Pro2155Ser) c.1717-9041C>T (n.1717-9041C>T) c.6553C>T (p.Pro2185Ser) c.4540C>T (p.Pro1514Ser) c.4090C>T (p.Pro1364Ser) c.3298C>T (p.Pro1100Ser) | ClinVar dbSNP |
| 8 | g.60853189C>A | CA371325320 | CHD7 | c.6464C>A (p.Pro2155Gln) c.1717-9040C>A (n.1717-9040C>A) c.6554C>A (p.Pro2185Gln) c.4541C>A (p.Pro1514Gln) c.4091C>A (p.Pro1364Gln) c.3299C>A (p.Pro1100Gln) | |
| 8 | g.60853189C= | CA1788103998 | CHD7 | c.6464C= (p.Pro2155=) c.1717-9040C= (n.1717-9040C=) c.6554C= (p.Pro2185=) c.4541C= (p.Pro1514=) c.4091C= (p.Pro1364=) c.3299C= (p.Pro1100=) | |
| 8 | g.60853189C>G | CA371325322 | CHD7 | c.6464C>G (p.Pro2155Arg) c.1717-9040C>G (n.1717-9040C>G) c.6554C>G (p.Pro2185Arg) c.4541C>G (p.Pro1514Arg) c.4091C>G (p.Pro1364Arg) c.3299C>G (p.Pro1100Arg) | |
| 8 | g.60853189C>T | CA4760593 | CHD7 | c.6464C>T (p.Pro2155Leu) c.1717-9040C>T (n.1717-9040C>T) c.6554C>T (p.Pro2185Leu) c.4541C>T (p.Pro1514Leu) c.4091C>T (p.Pro1364Leu) c.3299C>T (p.Pro1100Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853190A>C | CA461105052 | CHD7 | c.6465A>C (p.Pro2155=) c.1717-9039A>C (n.1717-9039A>C) c.6555A>C (p.Pro2185=) c.4542A>C (p.Pro1514=) c.4092A>C (p.Pro1364=) c.3300A>C (p.Pro1100=) | |
| 8 | g.60853190A>G | CA461105051 | CHD7 | c.6465A>G (p.Pro2155=) c.1717-9039A>G (n.1717-9039A>G) c.6555A>G (p.Pro2185=) c.4542A>G (p.Pro1514=) c.4092A>G (p.Pro1364=) c.3300A>G (p.Pro1100=) | |
| 8 | g.60853190A>T | CA461105050 | CHD7 | c.6465A>T (p.Pro2155=) c.1717-9039A>T (n.1717-9039A>T) c.6555A>T (p.Pro2185=) c.4542A>T (p.Pro1514=) c.4092A>T (p.Pro1364=) c.3300A>T (p.Pro1100=) | |
| 8 | g.60853191G>A | CA371325328 | CHD7 | c.6466G>A (p.Val2156Ile) c.1717-9038G>A (n.1717-9038G>A) c.6556G>A (p.Val2186Ile) c.4543G>A (p.Val1515Ile) c.4093G>A (p.Val1365Ile) c.3301G>A (p.Val1101Ile) | ClinVar |
| 8 | g.60853191G>C | CA371325325 | CHD7 | c.6466G>C (p.Val2156Leu) c.1717-9038G>C (n.1717-9038G>C) c.6556G>C (p.Val2186Leu) c.4543G>C (p.Val1515Leu) c.4093G>C (p.Val1365Leu) c.3301G>C (p.Val1101Leu) | |
| 8 | g.60853191G>T | CA371325324 | CHD7 | c.6466G>T (p.Val2156Phe) c.1717-9038G>T (n.1717-9038G>T) c.6556G>T (p.Val2186Phe) c.4543G>T (p.Val1515Phe) c.4093G>T (p.Val1365Phe) c.3301G>T (p.Val1101Phe) | gnomAD v4 |
| 8 | g.60853192T>A | CA371325330 | CHD7 | c.6467T>A (p.Val2156Asp) c.1717-9037T>A (n.1717-9037T>A) c.6557T>A (p.Val2186Asp) c.4544T>A (p.Val1515Asp) c.4094T>A (p.Val1365Asp) c.3302T>A (p.Val1101Asp) | |
| 8 | g.60853192T>C | CA371325334 | CHD7 | c.6467T>C (p.Val2156Ala) c.1717-9037T>C (n.1717-9037T>C) c.6557T>C (p.Val2186Ala) c.4544T>C (p.Val1515Ala) c.4094T>C (p.Val1365Ala) c.3302T>C (p.Val1101Ala) | |
| 8 | g.60853192T>G | CA371325336 | CHD7 | c.6467T>G (p.Val2156Gly) c.1717-9037T>G (n.1717-9037T>G) c.6557T>G (p.Val2186Gly) c.4544T>G (p.Val1515Gly) c.4094T>G (p.Val1365Gly) c.3302T>G (p.Val1101Gly) | |
| 8 | g.60853193C>A | CA461105053 | CHD7 | c.6468C>A (p.Val2156=) c.1717-9036C>A (n.1717-9036C>A) c.6558C>A (p.Val2186=) c.4545C>A (p.Val1515=) c.4095C>A (p.Val1365=) c.3303C>A (p.Val1101=) | gnomAD v4 |
| 8 | g.60853193C= | CA1788104007 | CHD7 | c.6468C= (p.Val2156=) c.1717-9036C= (n.1717-9036C=) c.6558C= (p.Val2186=) c.4545C= (p.Val1515=) c.4095C= (p.Val1365=) c.3303C= (p.Val1101=) | |
| 8 | g.60853193C>G | CA461105054 | CHD7 | c.6468C>G (p.Val2156=) c.1717-9036C>G (n.1717-9036C>G) c.6558C>G (p.Val2186=) c.4545C>G (p.Val1515=) c.4095C>G (p.Val1365=) c.3303C>G (p.Val1101=) | ClinVar gnomAD v4 |
| 8 | g.60853193C>T | CA4760594 | CHD7 | c.6468C>T (p.Val2156=) c.1717-9036C>T (n.1717-9036C>T) c.6558C>T (p.Val2186=) c.4545C>T (p.Val1515=) c.4095C>T (p.Val1365=) c.3303C>T (p.Val1101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |