| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60838132_60838142del | CA2695209710 | CHD7 | c.4410_4420del (p.Ala1471Ter) c.1717-24097_1717-24087del (n.1717-24097_1717-24087del) c.2397_2407del (p.Ala800Ter) c.1947_1957del (p.Ala650Ter) c.1155_1165del (p.Ala386Ter) | |
| 8 | g.60838129T>A | CA371318156 | CHD7 | c.4407T>A (p.Tyr1469Ter) c.1717-24100T>A (n.1717-24100T>A) c.2394T>A (p.Tyr798Ter) c.1944T>A (p.Tyr648Ter) c.1152T>A (p.Tyr384Ter) | |
| 8 | g.60838129T>C | CA460847194 | CHD7 | c.4407T>C (p.Tyr1469=) c.1717-24100T>C (n.1717-24100T>C) c.2394T>C (p.Tyr798=) c.1944T>C (p.Tyr648=) c.1152T>C (p.Tyr384=) | |
| 8 | g.60838129T>G | CA16618669 | CHD7 | c.4407T>G (p.Tyr1469Ter) c.1717-24100T>G (n.1717-24100T>G) c.2394T>G (p.Tyr798Ter) c.1944T>G (p.Tyr648Ter) c.1152T>G (p.Tyr384Ter) | ClinVar dbSNP |
| 8 | g.60838129T= | CA1788116094 | CHD7 | c.4407T= (p.Tyr1469=) c.1717-24100T= (n.1717-24100T=) c.2394T= (p.Tyr798=) c.1944T= (p.Tyr648=) c.1152T= (p.Tyr384=) | |
| 8 | g.60838130G>A | CA177348662 | CHD7 | c.4408G>A (p.Gly1470Ser) c.1717-24099G>A (n.1717-24099G>A) c.2395G>A (p.Gly799Ser) c.1945G>A (p.Gly649Ser) c.1153G>A (p.Gly385Ser) | dbSNP |
| 8 | g.60838130G>C | CA371318157 | CHD7 | c.4408G>C (p.Gly1470Arg) c.1717-24099G>C (n.1717-24099G>C) c.2395G>C (p.Gly799Arg) c.1945G>C (p.Gly649Arg) c.1153G>C (p.Gly385Arg) | |
| 8 | g.60838130G= | CA1788116097 | CHD7 | c.4408G= (p.Gly1470=) c.1717-24099G= (n.1717-24099G=) c.2395G= (p.Gly799=) c.1945G= (p.Gly649=) c.1153G= (p.Gly385=) | |
| 8 | g.60838130G>T | CA371318158 | CHD7 | c.4408G>T (p.Gly1470Cys) c.1717-24099G>T (n.1717-24099G>T) c.2395G>T (p.Gly799Cys) c.1945G>T (p.Gly649Cys) c.1153G>T (p.Gly385Cys) | |
| 8 | g.60838131G>A | CA371318160 | CHD7 | c.4409G>A (p.Gly1470Asp) c.1717-24098G>A (n.1717-24098G>A) c.2396G>A (p.Gly799Asp) c.1946G>A (p.Gly649Asp) c.1154G>A (p.Gly385Asp) | ClinVar |
| 8 | g.60838131G>C | CA371318161 | CHD7 | c.4409G>C (p.Gly1470Ala) c.1717-24098G>C (n.1717-24098G>C) c.2396G>C (p.Gly799Ala) c.1946G>C (p.Gly649Ala) c.1154G>C (p.Gly385Ala) | |
| 8 | g.60838131G>T | CA371318159 | CHD7 | c.4409G>T (p.Gly1470Val) c.1717-24098G>T (n.1717-24098G>T) c.2396G>T (p.Gly799Val) c.1946G>T (p.Gly649Val) c.1154G>T (p.Gly385Val) | |
| 8 | g.60838132T>A | CA460847196 | CHD7 | c.4410T>A (p.Gly1470=) c.1717-24097T>A (n.1717-24097T>A) c.2397T>A (p.Gly799=) c.1947T>A (p.Gly649=) c.1155T>A (p.Gly385=) | |
| 8 | g.60838132T>C | CA460847197 | CHD7 | c.4410T>C (p.Gly1470=) c.1717-24097T>C (n.1717-24097T>C) c.2397T>C (p.Gly799=) c.1947T>C (p.Gly649=) c.1155T>C (p.Gly385=) | dbSNP gnomAD v4 |
| 8 | g.60838132T>G | CA460847195 | CHD7 | c.4410T>G (p.Gly1470=) c.1717-24097T>G (n.1717-24097T>G) c.2397T>G (p.Gly799=) c.1947T>G (p.Gly649=) c.1155T>G (p.Gly385=) | |
| 8 | g.60838133G>A | CA371318162 | CHD7 | c.4411G>A (p.Ala1471Thr) c.1717-24096G>A (n.1717-24096G>A) c.2398G>A (p.Ala800Thr) c.1948G>A (p.Ala650Thr) c.1156G>A (p.Ala386Thr) | |
| 8 | g.60838133G>C | CA371318163 | CHD7 | c.4411G>C (p.Ala1471Pro) c.1717-24096G>C (n.1717-24096G>C) c.2398G>C (p.Ala800Pro) c.1948G>C (p.Ala650Pro) c.1156G>C (p.Ala386Pro) | |
| 8 | g.60838133G>T | CA371318164 | CHD7 | c.4411G>T (p.Ala1471Ser) c.1717-24096G>T (n.1717-24096G>T) c.2398G>T (p.Ala800Ser) c.1948G>T (p.Ala650Ser) c.1156G>T (p.Ala386Ser) | |
| 8 | g.60838134C>A | CA371318165 | CHD7 | c.4412C>A (p.Ala1471Glu) c.1717-24095C>A (n.1717-24095C>A) c.2399C>A (p.Ala800Glu) c.1949C>A (p.Ala650Glu) c.1157C>A (p.Ala386Glu) | |
| 8 | g.60838134C>G | CA371318166 | CHD7 | c.4412C>G (p.Ala1471Gly) c.1717-24095C>G (n.1717-24095C>G) c.2399C>G (p.Ala800Gly) c.1949C>G (p.Ala650Gly) c.1157C>G (p.Ala386Gly) | |
| 8 | g.60838134C>T | CA371318167 | CHD7 | c.4412C>T (p.Ala1471Val) c.1717-24095C>T (n.1717-24095C>T) c.2399C>T (p.Ala800Val) c.1949C>T (p.Ala650Val) c.1157C>T (p.Ala386Val) | |
| 8 | g.60838135A= | CA1788116111 | CHD7 | c.4413A= (p.Ala1471=) c.1717-24094A= (n.1717-24094A=) c.2400A= (p.Ala800=) c.1950A= (p.Ala650=) c.1158A= (p.Ala386=) | |
| 8 | g.60838135A>C | CA460847198 | CHD7 | c.4413A>C (p.Ala1471=) c.1717-24094A>C (n.1717-24094A>C) c.2400A>C (p.Ala800=) c.1950A>C (p.Ala650=) c.1158A>C (p.Ala386=) | |
| 8 | g.60838135A>G | CA4760125 | CHD7 | c.4413A>G (p.Ala1471=) c.1717-24094A>G (n.1717-24094A>G) c.2400A>G (p.Ala800=) c.1950A>G (p.Ala650=) c.1158A>G (p.Ala386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60838135A>T | CA460847199 | CHD7 | c.4413A>T (p.Ala1471=) c.1717-24094A>T (n.1717-24094A>T) c.2400A>T (p.Ala800=) c.1950A>T (p.Ala650=) c.1158A>T (p.Ala386=) | |
| 8 | g.60838136C>A | CA371318168 | CHD7 | c.4414C>A (p.Leu1472Ile) c.1717-24093C>A (n.1717-24093C>A) c.2401C>A (p.Leu801Ile) c.1951C>A (p.Leu651Ile) c.1159C>A (p.Leu387Ile) | |
| 8 | g.60838136C>G | CA371318169 | CHD7 | c.4414C>G (p.Leu1472Val) c.1717-24093C>G (n.1717-24093C>G) c.2401C>G (p.Leu801Val) c.1951C>G (p.Leu651Val) c.1159C>G (p.Leu387Val) | |
| 8 | g.60838136C>T | CA371318170 | CHD7 | c.4414C>T (p.Leu1472Phe) c.1717-24093C>T (n.1717-24093C>T) c.2401C>T (p.Leu801Phe) c.1951C>T (p.Leu651Phe) c.1159C>T (p.Leu387Phe) | |
| 8 | g.60838137T>A | CA371318173 | CHD7 | c.4415T>A (p.Leu1472His) c.1717-24092T>A (n.1717-24092T>A) c.2402T>A (p.Leu801His) c.1952T>A (p.Leu651His) c.1160T>A (p.Leu387His) | |
| 8 | g.60838137T>C | CA371318172 | CHD7 | c.4415T>C (p.Leu1472Pro) c.1717-24092T>C (n.1717-24092T>C) c.2402T>C (p.Leu801Pro) c.1952T>C (p.Leu651Pro) c.1160T>C (p.Leu387Pro) | |
| 8 | g.60838137T>G | CA371318171 | CHD7 | c.4415T>G (p.Leu1472Arg) c.1717-24092T>G (n.1717-24092T>G) c.2402T>G (p.Leu801Arg) c.1952T>G (p.Leu651Arg) c.1160T>G (p.Leu387Arg) | |
| 8 | g.60838138C>A | CA4760126 | CHD7 | c.4416C>A (p.Leu1472=) c.1717-24091C>A (n.1717-24091C>A) c.2403C>A (p.Leu801=) c.1953C>A (p.Leu651=) c.1161C>A (p.Leu387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60838138C= | CA1788116118 | CHD7 | c.4416C= (p.Leu1472=) c.1717-24091C= (n.1717-24091C=) c.2403C= (p.Leu801=) c.1953C= (p.Leu651=) c.1161C= (p.Leu387=) | |
| 8 | g.60838138C>G | CA460847200 | CHD7 | c.4416C>G (p.Leu1472=) c.1717-24091C>G (n.1717-24091C>G) c.2403C>G (p.Leu801=) c.1953C>G (p.Leu651=) c.1161C>G (p.Leu387=) | |
| 8 | g.60838138C>T | CA460847201 | CHD7 | c.4416C>T (p.Leu1472=) c.1717-24091C>T (n.1717-24091C>T) c.2403C>T (p.Leu801=) c.1953C>T (p.Leu651=) c.1161C>T (p.Leu387=) | |
| 8 | g.60838139A>C | CA371318174 | CHD7 | c.4417A>C (p.Met1473Leu) c.1717-24090A>C (n.1717-24090A>C) c.2404A>C (p.Met802Leu) c.1954A>C (p.Met652Leu) c.1162A>C (p.Met388Leu) | |
| 8 | g.60838139A>G | CA371318175 | CHD7 | c.4417A>G (p.Met1473Val) c.1717-24090A>G (n.1717-24090A>G) c.2404A>G (p.Met802Val) c.1954A>G (p.Met652Val) c.1162A>G (p.Met388Val) | |
| 8 | g.60838139A>T | CA371318176 | CHD7 | c.4417A>T (p.Met1473Leu) c.1717-24090A>T (n.1717-24090A>T) c.2404A>T (p.Met802Leu) c.1954A>T (p.Met652Leu) c.1162A>T (p.Met388Leu) | |
| 8 | g.60838140T>A | CA371318177 | CHD7 | c.4418T>A (p.Met1473Lys) c.1717-24089T>A (n.1717-24089T>A) c.2405T>A (p.Met802Lys) c.1955T>A (p.Met652Lys) c.1163T>A (p.Met388Lys) | |
| 8 | g.60838140T>C | CA371318178 | CHD7 | c.4418T>C (p.Met1473Thr) c.1717-24089T>C (n.1717-24089T>C) c.2405T>C (p.Met802Thr) c.1955T>C (p.Met652Thr) c.1163T>C (p.Met388Thr) | gnomAD v4 |
| 8 | g.60838140T>G | CA371318179 | CHD7 | c.4418T>G (p.Met1473Arg) c.1717-24089T>G (n.1717-24089T>G) c.2405T>G (p.Met802Arg) c.1955T>G (p.Met652Arg) c.1163T>G (p.Met388Arg) | |
| 8 | g.60838141G>A | CA371318180 | CHD7 | c.4419G>A (p.Met1473Ile) c.1717-24088G>A (n.1717-24088G>A) c.2406G>A (p.Met802Ile) c.1956G>A (p.Met652Ile) c.1164G>A (p.Met388Ile) | |
| 8 | g.60838141G>C | CA371318181 | CHD7 | c.4419G>C (p.Met1473Ile) c.1717-24088G>C (n.1717-24088G>C) c.2406G>C (p.Met802Ile) c.1956G>C (p.Met652Ile) c.1164G>C (p.Met388Ile) | |
| 8 | g.60838141G>T | CA371318182 | CHD7 | c.4419G>T (p.Met1473Ile) c.1717-24088G>T (n.1717-24088G>T) c.2406G>T (p.Met802Ile) c.1956G>T (p.Met652Ile) c.1164G>T (p.Met388Ile) | |
| 8 | g.60838142G>A | CA371318183 | CHD7 | c.4420G>A (p.Asp1474Asn) c.1717-24087G>A (n.1717-24087G>A) c.2407G>A (p.Asp803Asn) c.1957G>A (p.Asp653Asn) c.1165G>A (p.Asp389Asn) | ClinVar gnomAD v4 |
| 8 | g.60838142G>C | CA371318184 | CHD7 | c.4420G>C (p.Asp1474His) c.1717-24087G>C (n.1717-24087G>C) c.2407G>C (p.Asp803His) c.1957G>C (p.Asp653His) c.1165G>C (p.Asp389His) | |
| 8 | g.60838142G>T | CA371318185 | CHD7 | c.4420G>T (p.Asp1474Tyr) c.1717-24087G>T (n.1717-24087G>T) c.2407G>T (p.Asp803Tyr) c.1957G>T (p.Asp653Tyr) c.1165G>T (p.Asp389Tyr) | |
| 8 | g.60838143A= | CA1788116120 | CHD7 | c.4421A= (p.Asp1474=) c.1717-24086A= (n.1717-24086A=) c.2408A= (p.Asp803=) c.1958A= (p.Asp653=) c.1166A= (p.Asp389=) | |
| 8 | g.60838143A>C | CA371318187 | CHD7 | c.4421A>C (p.Asp1474Ala) c.1717-24086A>C (n.1717-24086A>C) c.2408A>C (p.Asp803Ala) c.1958A>C (p.Asp653Ala) c.1166A>C (p.Asp389Ala) | gnomAD v4 |
| 8 | g.60838143A>G | CA371318188 | CHD7 | c.4421A>G (p.Asp1474Gly) c.1717-24086A>G (n.1717-24086A>G) c.2408A>G (p.Asp803Gly) c.1958A>G (p.Asp653Gly) c.1166A>G (p.Asp389Gly) | gnomAD v4 |
| 8 | g.60838143A>T | CA371318186 | CHD7 | c.4421A>T (p.Asp1474Val) c.1717-24086A>T (n.1717-24086A>T) c.2408A>T (p.Asp803Val) c.1958A>T (p.Asp653Val) c.1166A>T (p.Asp389Val) | dbSNP gnomAD v4 |
| 8 | g.60838144T>A | CA371318189 | CHD7 | c.4422T>A (p.Asp1474Glu) c.1717-24085T>A (n.1717-24085T>A) c.2409T>A (p.Asp803Glu) c.1959T>A (p.Asp653Glu) c.1167T>A (p.Asp389Glu) | |
| 8 | g.60838144T>C | CA460847202 | CHD7 | c.4422T>C (p.Asp1474=) c.1717-24085T>C (n.1717-24085T>C) c.2409T>C (p.Asp803=) c.1959T>C (p.Asp653=) c.1167T>C (p.Asp389=) | |
| 8 | g.60838144T>G | CA371318190 | CHD7 | c.4422T>G (p.Asp1474Glu) c.1717-24085T>G (n.1717-24085T>G) c.2409T>G (p.Asp803Glu) c.1959T>G (p.Asp653Glu) c.1167T>G (p.Asp389Glu) | |
| 8 | g.60838145G>A | CA371318191 | CHD7 | c.4423G>A (p.Glu1475Lys) c.1717-24084G>A (n.1717-24084G>A) c.2410G>A (p.Glu804Lys) c.1960G>A (p.Glu654Lys) c.1168G>A (p.Glu390Lys) | gnomAD v4 |
| 8 | g.60838145G>C | CA371318192 | CHD7 | c.4423G>C (p.Glu1475Gln) c.1717-24084G>C (n.1717-24084G>C) c.2410G>C (p.Glu804Gln) c.1960G>C (p.Glu654Gln) c.1168G>C (p.Glu390Gln) | |
| 8 | g.60838145G= | CA1788116127 | CHD7 | c.4423G= (p.Glu1475=) c.1717-24084G= (n.1717-24084G=) c.2410G= (p.Glu804=) c.1960G= (p.Glu654=) c.1168G= (p.Glu390=) | |
| 8 | g.60838145G>T | CA177348671 | CHD7 | c.4423G>T (p.Glu1475Ter) c.1717-24084G>T (n.1717-24084G>T) c.2410G>T (p.Glu804Ter) c.1960G>T (p.Glu654Ter) c.1168G>T (p.Glu390Ter) | dbSNP gnomAD v4 |
| 8 | g.60838145_60838146delinsGA | CA1788116123 | CHD7 | c.4423_4424delinsGA (p.Glu1475=) c.1717-24084_1717-24083delinsGA (n.1717-24084_1717-24083delinsGA) c.2410_2411delinsGA (p.Glu804=) c.1960_1961delinsGA (p.Glu654=) c.1168_1169delinsGA (p.Glu390=) | |
| 8 | g.60838146del | CA1139660558 | CHD7 | c.4424del (p.Glu1475GlyfsTer?) c.1717-24083del (n.1717-24083del) c.2411del (p.Glu804GlyfsTer?) c.1961del (p.Glu654GlyfsTer?) c.1169del (p.Glu390GlyfsTer?) | ClinVar dbSNP |
| 8 | g.60838146A>C | CA371318196 | CHD7 | c.4424A>C (p.Glu1475Ala) c.1717-24083A>C (n.1717-24083A>C) c.2411A>C (p.Glu804Ala) c.1961A>C (p.Glu654Ala) c.1169A>C (p.Glu390Ala) | |
| 8 | g.60838146A>G | CA371318194 | CHD7 | c.4424A>G (p.Glu1475Gly) c.1717-24083A>G (n.1717-24083A>G) c.2411A>G (p.Glu804Gly) c.1961A>G (p.Glu654Gly) c.1169A>G (p.Glu390Gly) | gnomAD v4 |
| 8 | g.60838146A>T | CA371318195 | CHD7 | c.4424A>T (p.Glu1475Val) c.1717-24083A>T (n.1717-24083A>T) c.2411A>T (p.Glu804Val) c.1961A>T (p.Glu654Val) c.1169A>T (p.Glu390Val) | |
| 8 | g.60838147G>A | CA460847203 | CHD7 | c.4425G>A (p.Glu1475=) c.1717-24082G>A (n.1717-24082G>A) c.2412G>A (p.Glu804=) c.1962G>A (p.Glu654=) c.1170G>A (p.Glu390=) | |
| 8 | g.60838147G>C | CA371318197 | CHD7 | c.4425G>C (p.Glu1475Asp) c.1717-24082G>C (n.1717-24082G>C) c.2412G>C (p.Glu804Asp) c.1962G>C (p.Glu654Asp) c.1170G>C (p.Glu390Asp) | |
| 8 | g.60838147G>T | CA371318198 | CHD7 | c.4425G>T (p.Glu1475Asp) c.1717-24082G>T (n.1717-24082G>T) c.2412G>T (p.Glu804Asp) c.1962G>T (p.Glu654Asp) c.1170G>T (p.Glu390Asp) | gnomAD v4 |
| 8 | g.60838148G>A | CA371318199 | CHD7 | c.4426G>A (p.Glu1476Lys) c.1717-24081G>A (n.1717-24081G>A) c.2413G>A (p.Glu805Lys) c.1963G>A (p.Glu655Lys) c.1171G>A (p.Glu391Lys) | gnomAD v4 |
| 8 | g.60838148G>C | CA371318200 | CHD7 | c.4426G>C (p.Glu1476Gln) c.1717-24081G>C (n.1717-24081G>C) c.2413G>C (p.Glu805Gln) c.1963G>C (p.Glu655Gln) c.1171G>C (p.Glu391Gln) | |
| 8 | g.60838148G>T | CA371318201 | CHD7 | c.4426G>T (p.Glu1476Ter) c.1717-24081G>T (n.1717-24081G>T) c.2413G>T (p.Glu805Ter) c.1963G>T (p.Glu655Ter) c.1171G>T (p.Glu391Ter) | |
| 8 | g.60838149A>C | CA371318204 | CHD7 | c.4427A>C (p.Glu1476Ala) c.1717-24080A>C (n.1717-24080A>C) c.2414A>C (p.Glu805Ala) c.1964A>C (p.Glu655Ala) c.1172A>C (p.Glu391Ala) | |
| 8 | g.60838149A>G | CA371318202 | CHD7 | c.4427A>G (p.Glu1476Gly) c.1717-24080A>G (n.1717-24080A>G) c.2414A>G (p.Glu805Gly) c.1964A>G (p.Glu655Gly) c.1172A>G (p.Glu391Gly) | |
| 8 | g.60838149A>T | CA371318203 | CHD7 | c.4427A>T (p.Glu1476Val) c.1717-24080A>T (n.1717-24080A>T) c.2414A>T (p.Glu805Val) c.1964A>T (p.Glu655Val) c.1172A>T (p.Glu391Val) | |
| 8 | g.60838150G>A | CA460847204 | CHD7 | c.4428G>A (p.Glu1476=) c.1717-24079G>A (n.1717-24079G>A) c.2415G>A (p.Glu805=) c.1965G>A (p.Glu655=) c.1173G>A (p.Glu391=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60838150G>C | CA371318205 | CHD7 | c.4428G>C (p.Glu1476Asp) c.1717-24079G>C (n.1717-24079G>C) c.2415G>C (p.Glu805Asp) c.1965G>C (p.Glu655Asp) c.1173G>C (p.Glu391Asp) | |
| 8 | g.60838150G= | CA1788116133 | CHD7 | c.4428G= (p.Glu1476=) c.1717-24079G= (n.1717-24079G=) c.2415G= (p.Glu805=) c.1965G= (p.Glu655=) c.1173G= (p.Glu391=) | |
| 8 | g.60838150G>T | CA371318206 | CHD7 | c.4428G>T (p.Glu1476Asp) c.1717-24079G>T (n.1717-24079G>T) c.2415G>T (p.Glu805Asp) c.1965G>T (p.Glu655Asp) c.1173G>T (p.Glu391Asp) | gnomAD v4 |
| 8 | g.60838151G>A | CA371318207 | CHD7 | c.4429G>A (p.Asp1477Asn) c.1717-24078G>A (n.1717-24078G>A) c.2416G>A (p.Asp806Asn) c.1966G>A (p.Asp656Asn) c.1174G>A (p.Asp392Asn) | gnomAD v4 |
| 8 | g.60838151G>C | CA371318208 | CHD7 | c.4429G>C (p.Asp1477His) c.1717-24078G>C (n.1717-24078G>C) c.2416G>C (p.Asp806His) c.1966G>C (p.Asp656His) c.1174G>C (p.Asp392His) | |
| 8 | g.60838151G>T | CA371318209 | CHD7 | c.4429G>T (p.Asp1477Tyr) c.1717-24078G>T (n.1717-24078G>T) c.2416G>T (p.Asp806Tyr) c.1966G>T (p.Asp656Tyr) c.1174G>T (p.Asp392Tyr) | gnomAD v4 |
| 8 | g.60838152A>C | CA371318210 | CHD7 | c.4430A>C (p.Asp1477Ala) c.1717-24077A>C (n.1717-24077A>C) c.2417A>C (p.Asp806Ala) c.1967A>C (p.Asp656Ala) c.1175A>C (p.Asp392Ala) | |
| 8 | g.60838152A>G | CA371318211 | CHD7 | c.4430A>G (p.Asp1477Gly) c.1717-24077A>G (n.1717-24077A>G) c.2417A>G (p.Asp806Gly) c.1967A>G (p.Asp656Gly) c.1175A>G (p.Asp392Gly) | gnomAD v4 |
| 8 | g.60838152A>T | CA371318212 | CHD7 | c.4430A>T (p.Asp1477Val) c.1717-24077A>T (n.1717-24077A>T) c.2417A>T (p.Asp806Val) c.1967A>T (p.Asp656Val) c.1175A>T (p.Asp392Val) | |
| 8 | g.60838153T>A | CA371318213 | CHD7 | c.4431T>A (p.Asp1477Glu) c.1717-24076T>A (n.1717-24076T>A) c.2418T>A (p.Asp806Glu) c.1968T>A (p.Asp656Glu) c.1176T>A (p.Asp392Glu) | |
| 8 | g.60838153T>C | CA460847205 | CHD7 | c.4431T>C (p.Asp1477=) c.1717-24076T>C (n.1717-24076T>C) c.2418T>C (p.Asp806=) c.1968T>C (p.Asp656=) c.1176T>C (p.Asp392=) | gnomAD v4 |
| 8 | g.60838153T>G | CA371318214 | CHD7 | c.4431T>G (p.Asp1477Glu) c.1717-24076T>G (n.1717-24076T>G) c.2418T>G (p.Asp806Glu) c.1968T>G (p.Asp656Glu) c.1176T>G (p.Asp392Glu) | |
| 8 | g.60838154G>A | CA371318215 | CHD7 | c.4432G>A (p.Glu1478Lys) c.1717-24075G>A (n.1717-24075G>A) c.2419G>A (p.Glu807Lys) c.1969G>A (p.Glu657Lys) c.1177G>A (p.Glu393Lys) | COSMIC |
| 8 | g.60838154G>C | CA371318216 | CHD7 | c.4432G>C (p.Glu1478Gln) c.1717-24075G>C (n.1717-24075G>C) c.2419G>C (p.Glu807Gln) c.1969G>C (p.Glu657Gln) c.1177G>C (p.Glu393Gln) | |
| 8 | g.60838154G>T | CA371318217 | CHD7 | c.4432G>T (p.Glu1478Ter) c.1717-24075G>T (n.1717-24075G>T) c.2419G>T (p.Glu807Ter) c.1969G>T (p.Glu657Ter) c.1177G>T (p.Glu393Ter) | gnomAD v4 |
| 8 | g.60838155A>C | CA371318218 | CHD7 | c.4433A>C (p.Glu1478Ala) c.1717-24074A>C (n.1717-24074A>C) c.2420A>C (p.Glu807Ala) c.1970A>C (p.Glu657Ala) c.1178A>C (p.Glu393Ala) | |
| 8 | g.60838155A>G | CA371318220 | CHD7 | c.4433A>G (p.Glu1478Gly) c.1717-24074A>G (n.1717-24074A>G) c.2420A>G (p.Glu807Gly) c.1970A>G (p.Glu657Gly) c.1178A>G (p.Glu393Gly) | |
| 8 | g.60838155A>T | CA371318219 | CHD7 | c.4433A>T (p.Glu1478Val) c.1717-24074A>T (n.1717-24074A>T) c.2420A>T (p.Glu807Val) c.1970A>T (p.Glu657Val) c.1178A>T (p.Glu393Val) | |
| 8 | g.60838156A>C | CA371318221 | CHD7 | c.4434A>C (p.Glu1478Asp) c.1717-24073A>C (n.1717-24073A>C) c.2421A>C (p.Glu807Asp) c.1971A>C (p.Glu657Asp) c.1179A>C (p.Glu393Asp) | |
| 8 | g.60838156A>G | CA460847206 | CHD7 | c.4434A>G (p.Glu1478=) c.1717-24073A>G (n.1717-24073A>G) c.2421A>G (p.Glu807=) c.1971A>G (p.Glu657=) c.1179A>G (p.Glu393=) | |
| 8 | g.60838156A>T | CA371318222 | CHD7 | c.4434A>T (p.Glu1478Asp) c.1717-24073A>T (n.1717-24073A>T) c.2421A>T (p.Glu807Asp) c.1971A>T (p.Glu657Asp) c.1179A>T (p.Glu393Asp) | |
| 8 | g.60838156_60838157insCCC | CA2687399296 | CHD7 | c.4434_4435insCCC (p.Glu1478_Gly1479insPro) c.1717-24073_1717-24072insCCC (n.1717-24073_1717-24072insCCC) c.2421_2422insCCC (p.Glu807_Gly808insPro) c.1971_1972insCCC (p.Glu657_Gly658insPro) c.1179_1180insCCC (p.Glu393_Gly394insPro) | gnomAD v4 |
| 8 | g.60838157G>A | CA371318223 | CHD7 | c.4435G>A (p.Gly1479Arg) c.1717-24072G>A (n.1717-24072G>A) c.2422G>A (p.Gly808Arg) c.1972G>A (p.Gly658Arg) c.1180G>A (p.Gly394Arg) | gnomAD v4 |
| 8 | g.60838157G>C | CA371318224 | CHD7 | c.4435G>C (p.Gly1479Arg) c.1717-24072G>C (n.1717-24072G>C) c.2422G>C (p.Gly808Arg) c.1972G>C (p.Gly658Arg) c.1180G>C (p.Gly394Arg) | gnomAD v4 |
| 8 | g.60838157G>T | CA371318225 | CHD7 | c.4435G>T (p.Gly1479Trp) c.1717-24072G>T (n.1717-24072G>T) c.2422G>T (p.Gly808Trp) c.1972G>T (p.Gly658Trp) c.1180G>T (p.Gly394Trp) | gnomAD v4 |
| 8 | g.60838157_60838160del | CA2687399297 | CHD7 | c.4435_4438del (p.Gly1479LeufsTer?) c.1717-24072_1717-24069del (n.1717-24072_1717-24069del) c.2422_2425del (p.Gly808LeufsTer?) c.1972_1975del (p.Gly658LeufsTer?) c.1180_1183del (p.Gly394LeufsTer?) | gnomAD v4 |
| 8 | g.60838157_60838158insCC | CA2687399298 | CHD7 | c.4435_4436insCC (p.Gly1479AlafsTer?) c.1717-24072_1717-24071insCC (n.1717-24072_1717-24071insCC) c.2422_2423insCC (p.Gly808AlafsTer?) c.1972_1973insCC (p.Gly658AlafsTer?) c.1180_1181insCC (p.Gly394AlafsTer?) | gnomAD v4 |
| 8 | g.60838158G>A | CA371318226 | CHD7 | c.4436G>A (p.Gly1479Glu) c.1717-24071G>A (n.1717-24071G>A) c.2423G>A (p.Gly808Glu) c.1973G>A (p.Gly658Glu) c.1181G>A (p.Gly394Glu) | |
| 8 | g.60838158G>C | CA371318227 | CHD7 | c.4436G>C (p.Gly1479Ala) c.1717-24071G>C (n.1717-24071G>C) c.2423G>C (p.Gly808Ala) c.1973G>C (p.Gly658Ala) c.1181G>C (p.Gly394Ala) | gnomAD v4 |
| 8 | g.60838158G>T | CA371318228 | CHD7 | c.4436G>T (p.Gly1479Val) c.1717-24071G>T (n.1717-24071G>T) c.2423G>T (p.Gly808Val) c.1973G>T (p.Gly658Val) c.1181G>T (p.Gly394Val) | gnomAD v4 |
| 8 | g.60838158_60838160del | CA2687399299 | CHD7 | c.4436_4438del (p.Gly1479_Ser1480delinsAla) c.1717-24071_1717-24069del (n.1717-24071_1717-24069del) c.2423_2425del (p.Gly808_Ser809delinsAla) c.1973_1975del (p.Gly658_Ser659delinsAla) c.1181_1183del (p.Gly394_Ser395delinsAla) | gnomAD v4 |
| 8 | g.60838159G>A | CA223300 | CHD7 | c.4437G>A (p.Gly1479=) c.1717-24070G>A (n.1717-24070G>A) c.2424G>A (p.Gly808=) c.1974G>A (p.Gly658=) c.1182G>A (p.Gly394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60838159G>C | CA460847207 | CHD7 | c.4437G>C (p.Gly1479=) c.1717-24070G>C (n.1717-24070G>C) c.2424G>C (p.Gly808=) c.1974G>C (p.Gly658=) c.1182G>C (p.Gly394=) | gnomAD v4 |
| 8 | g.60838159G= | CA1788116142 | CHD7 | c.4437G= (p.Gly1479=) c.1717-24070G= (n.1717-24070G=) c.2424G= (p.Gly808=) c.1974G= (p.Gly658=) c.1182G= (p.Gly394=) | |
| 8 | g.60838159G>T | CA460847208 | CHD7 | c.4437G>T (p.Gly1479=) c.1717-24070G>T (n.1717-24070G>T) c.2424G>T (p.Gly808=) c.1974G>T (p.Gly658=) c.1182G>T (p.Gly394=) | gnomAD v4 COSMIC |
| 8 | g.60838159_60838160del | CA2687399300 | CHD7 | c.4437_4438del (p.Ser1480Ter) c.1717-24070_1717-24069del (n.1717-24070_1717-24069del) c.2424_2425del (p.Ser809Ter) c.1974_1975del (p.Ser659Ter) c.1182_1183del (p.Ser395Ter) | gnomAD v4 |
| 8 | g.60838160T>A | CA371318229 | CHD7 | c.4438T>A (p.Ser1480Thr) c.1717-24069T>A (n.1717-24069T>A) c.2425T>A (p.Ser809Thr) c.1975T>A (p.Ser659Thr) c.1183T>A (p.Ser395Thr) | gnomAD v4 |
| 8 | g.60838160T>C | CA371318230 | CHD7 | c.4438T>C (p.Ser1480Pro) c.1717-24069T>C (n.1717-24069T>C) c.2425T>C (p.Ser809Pro) c.1975T>C (p.Ser659Pro) c.1183T>C (p.Ser395Pro) | gnomAD v4 |
| 8 | g.60838160T>G | CA371318231 | CHD7 | c.4438T>G (p.Ser1480Ala) c.1717-24069T>G (n.1717-24069T>G) c.2425T>G (p.Ser809Ala) c.1975T>G (p.Ser659Ala) c.1183T>G (p.Ser395Ala) | |
| 8 | g.60838161C>A | CA371318234 | CHD7 | c.4439C>A (p.Ser1480Tyr) c.1717-24068C>A (n.1717-24068C>A) c.2426C>A (p.Ser809Tyr) c.1976C>A (p.Ser659Tyr) c.1184C>A (p.Ser395Tyr) | gnomAD v4 |
| 8 | g.60838161C>G | CA371318232 | CHD7 | c.4439C>G (p.Ser1480Cys) c.1717-24068C>G (n.1717-24068C>G) c.2426C>G (p.Ser809Cys) c.1976C>G (p.Ser659Cys) c.1184C>G (p.Ser395Cys) | |
| 8 | g.60838161C>T | CA371318233 | CHD7 | c.4439C>T (p.Ser1480Phe) c.1717-24068C>T (n.1717-24068C>T) c.2426C>T (p.Ser809Phe) c.1976C>T (p.Ser659Phe) c.1184C>T (p.Ser395Phe) | |
| 8 | g.60838162T>A | CA460847209 | CHD7 | c.4440T>A (p.Ser1480=) c.1717-24067T>A (n.1717-24067T>A) c.2427T>A (p.Ser809=) c.1977T>A (p.Ser659=) c.1185T>A (p.Ser395=) | |
| 8 | g.60838162T>C | CA460847210 | CHD7 | c.4440T>C (p.Ser1480=) c.1717-24067T>C (n.1717-24067T>C) c.2427T>C (p.Ser809=) c.1977T>C (p.Ser659=) c.1185T>C (p.Ser395=) | gnomAD v4 |
| 8 | g.60838162T>G | CA460847211 | CHD7 | c.4440T>G (p.Ser1480=) c.1717-24067T>G (n.1717-24067T>G) c.2427T>G (p.Ser809=) c.1977T>G (p.Ser659=) c.1185T>G (p.Ser395=) | |
| 8 | g.60838163A>C | CA371318235 | CHD7 | c.4441A>C (p.Lys1481Gln) c.1717-24066A>C (n.1717-24066A>C) c.2428A>C (p.Lys810Gln) c.1978A>C (p.Lys660Gln) c.1186A>C (p.Lys396Gln) | |
| 8 | g.60838163A>G | CA371318236 | CHD7 | c.4441A>G (p.Lys1481Glu) c.1717-24066A>G (n.1717-24066A>G) c.2428A>G (p.Lys810Glu) c.1978A>G (p.Lys660Glu) c.1186A>G (p.Lys396Glu) | gnomAD v4 |
| 8 | g.60838163A>T | CA371318237 | CHD7 | c.4441A>T (p.Lys1481Ter) c.1717-24066A>T (n.1717-24066A>T) c.2428A>T (p.Lys810Ter) c.1978A>T (p.Lys660Ter) c.1186A>T (p.Lys396Ter) | |
| 8 | g.60838165del | CA2687399301 | CHD7 | c.4443del (p.Lys1481AsnfsTer?) c.1717-24064del (n.1717-24064del) c.2430del (p.Lys810AsnfsTer?) c.1980del (p.Lys660AsnfsTer?) c.1188del (p.Lys396AsnfsTer?) | gnomAD v4 |
| 8 | g.60838164A>C | CA371318238 | CHD7 | c.4442A>C (p.Lys1481Thr) c.1717-24065A>C (n.1717-24065A>C) c.2429A>C (p.Lys810Thr) c.1979A>C (p.Lys660Thr) c.1187A>C (p.Lys396Thr) | |
| 8 | g.60838164A>G | CA371318239 | CHD7 | c.4442A>G (p.Lys1481Arg) c.1717-24065A>G (n.1717-24065A>G) c.2429A>G (p.Lys810Arg) c.1979A>G (p.Lys660Arg) c.1187A>G (p.Lys396Arg) | |
| 8 | g.60838164A>T | CA371318240 | CHD7 | c.4442A>T (p.Lys1481Ile) c.1717-24065A>T (n.1717-24065A>T) c.2429A>T (p.Lys810Ile) c.1979A>T (p.Lys660Ile) c.1187A>T (p.Lys396Ile) | |
| 8 | g.60838165A= | CA1788116149 | CHD7 | c.4443A= (p.Lys1481=) c.1717-24064A= (n.1717-24064A=) c.2430A= (p.Lys810=) c.1980A= (p.Lys660=) c.1188A= (p.Lys396=) | |
| 8 | g.60838165A>C | CA371318241 | CHD7 | c.4443A>C (p.Lys1481Asn) c.1717-24064A>C (n.1717-24064A>C) c.2430A>C (p.Lys810Asn) c.1980A>C (p.Lys660Asn) c.1188A>C (p.Lys396Asn) | |
| 8 | g.60838165A>G | CA177348672 | CHD7 | c.4443A>G (p.Lys1481=) c.1717-24064A>G (n.1717-24064A>G) c.2430A>G (p.Lys810=) c.1980A>G (p.Lys660=) c.1188A>G (p.Lys396=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60838165A>T | CA371318242 | CHD7 | c.4443A>T (p.Lys1481Asn) c.1717-24064A>T (n.1717-24064A>T) c.2430A>T (p.Lys810Asn) c.1980A>T (p.Lys660Asn) c.1188A>T (p.Lys396Asn) | |
| 8 | g.60838166T>A | CA371318243 | CHD7 | c.4444T>A (p.Phe1482Ile) c.1717-24063T>A (n.1717-24063T>A) c.2431T>A (p.Phe811Ile) c.1981T>A (p.Phe661Ile) c.1189T>A (p.Phe397Ile) | |
| 8 | g.60838166T>C | CA371318244 | CHD7 | c.4444T>C (p.Phe1482Leu) c.1717-24063T>C (n.1717-24063T>C) c.2431T>C (p.Phe811Leu) c.1981T>C (p.Phe661Leu) c.1189T>C (p.Phe397Leu) | gnomAD v4 |
| 8 | g.60838166T>G | CA371318245 | CHD7 | c.4444T>G (p.Phe1482Val) c.1717-24063T>G (n.1717-24063T>G) c.2431T>G (p.Phe811Val) c.1981T>G (p.Phe661Val) c.1189T>G (p.Phe397Val) | |
| 8 | g.60838167T>A | CA371318247 | CHD7 | c.4445T>A (p.Phe1482Tyr) c.1717-24062T>A (n.1717-24062T>A) c.2432T>A (p.Phe811Tyr) c.1982T>A (p.Phe661Tyr) c.1190T>A (p.Phe397Tyr) | |
| 8 | g.60838167T>C | CA371318248 | CHD7 | c.4445T>C (p.Phe1482Ser) c.1717-24062T>C (n.1717-24062T>C) c.2432T>C (p.Phe811Ser) c.1982T>C (p.Phe661Ser) c.1190T>C (p.Phe397Ser) | |
| 8 | g.60838167T>G | CA371318246 | CHD7 | c.4445T>G (p.Phe1482Cys) c.1717-24062T>G (n.1717-24062T>G) c.2432T>G (p.Phe811Cys) c.1982T>G (p.Phe661Cys) c.1190T>G (p.Phe397Cys) | |
| 8 | g.60838168C>A | CA371318250 | CHD7 | c.4446C>A (p.Phe1482Leu) c.1717-24061C>A (n.1717-24061C>A) c.2433C>A (p.Phe811Leu) c.1983C>A (p.Phe661Leu) c.1191C>A (p.Phe397Leu) | gnomAD v4 COSMIC |
| 8 | g.60838168C= | CA1788116155 | CHD7 | c.4446C= (p.Phe1482=) c.1717-24061C= (n.1717-24061C=) c.2433C= (p.Phe811=) c.1983C= (p.Phe661=) c.1191C= (p.Phe397=) | |
| 8 | g.60838168C>G | CA371318249 | CHD7 | c.4446C>G (p.Phe1482Leu) c.1717-24061C>G (n.1717-24061C>G) c.2433C>G (p.Phe811Leu) c.1983C>G (p.Phe661Leu) c.1191C>G (p.Phe397Leu) | |
| 8 | g.60838168C>T | CA460847212 | CHD7 | c.4446C>T (p.Phe1482=) c.1717-24061C>T (n.1717-24061C>T) c.2433C>T (p.Phe811=) c.1983C>T (p.Phe661=) c.1191C>T (p.Phe397=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60838169T>A | CA371318253 | CHD7 | c.4447T>A (p.Cys1483Ser) c.1717-24060T>A (n.1717-24060T>A) c.2434T>A (p.Cys812Ser) c.1984T>A (p.Cys662Ser) c.1192T>A (p.Cys398Ser) | |
| 8 | g.60838169T>C | CA371318251 | CHD7 | c.4447T>C (p.Cys1483Arg) c.1717-24060T>C (n.1717-24060T>C) c.2434T>C (p.Cys812Arg) c.1984T>C (p.Cys662Arg) c.1192T>C (p.Cys398Arg) | gnomAD v4 |
| 8 | g.60838169T>G | CA371318252 | CHD7 | c.4447T>G (p.Cys1483Gly) c.1717-24060T>G (n.1717-24060T>G) c.2434T>G (p.Cys812Gly) c.1984T>G (p.Cys662Gly) c.1192T>G (p.Cys398Gly) | |
| 8 | g.60838170G>A | CA371318254 | CHD7 | c.4448G>A (p.Cys1483Tyr) c.1717-24059G>A (n.1717-24059G>A) c.2435G>A (p.Cys812Tyr) c.1985G>A (p.Cys662Tyr) c.1193G>A (p.Cys398Tyr) | gnomAD v4 |
| 8 | g.60838170G>C | CA371318255 | CHD7 | c.4448G>C (p.Cys1483Ser) c.1717-24059G>C (n.1717-24059G>C) c.2435G>C (p.Cys812Ser) c.1985G>C (p.Cys662Ser) c.1193G>C (p.Cys398Ser) | |
| 8 | g.60838170G>T | CA371318256 | CHD7 | c.4448G>T (p.Cys1483Phe) c.1717-24059G>T (n.1717-24059G>T) c.2435G>T (p.Cys812Phe) c.1985G>T (p.Cys662Phe) c.1193G>T (p.Cys398Phe) | gnomAD v4 |
| 8 | g.60838171T>A | CA371318257 | CHD7 | c.4449T>A (p.Cys1483Ter) c.1717-24058T>A (n.1717-24058T>A) c.2436T>A (p.Cys812Ter) c.1986T>A (p.Cys662Ter) c.1194T>A (p.Cys398Ter) | |
| 8 | g.60838171T>C | CA460847213 | CHD7 | c.4449T>C (p.Cys1483=) c.1717-24058T>C (n.1717-24058T>C) c.2436T>C (p.Cys812=) c.1986T>C (p.Cys662=) c.1194T>C (p.Cys398=) | |
| 8 | g.60838171T>G | CA371318258 | CHD7 | c.4449T>G (p.Cys1483Trp) c.1717-24058T>G (n.1717-24058T>G) c.2436T>G (p.Cys812Trp) c.1986T>G (p.Cys662Trp) c.1194T>G (p.Cys398Trp) | |
| 8 | g.60838172G>A | CA371318259 | CHD7 | c.4450G>A (p.Glu1484Lys) c.1717-24057G>A (n.1717-24057G>A) c.2437G>A (p.Glu813Lys) c.1987G>A (p.Glu663Lys) c.1195G>A (p.Glu399Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60838172G>C | CA371318260 | CHD7 | c.4450G>C (p.Glu1484Gln) c.1717-24057G>C (n.1717-24057G>C) c.2437G>C (p.Glu813Gln) c.1987G>C (p.Glu663Gln) c.1195G>C (p.Glu399Gln) | |
| 8 | g.60838172G= | CA1788116159 | CHD7 | c.4450G= (p.Glu1484=) c.1717-24057G= (n.1717-24057G=) c.2437G= (p.Glu813=) c.1987G= (p.Glu663=) c.1195G= (p.Glu399=) | |
| 8 | g.60838172G>T | CA371318261 | CHD7 | c.4450G>T (p.Glu1484Ter) c.1717-24057G>T (n.1717-24057G>T) c.2437G>T (p.Glu813Ter) c.1987G>T (p.Glu663Ter) c.1195G>T (p.Glu399Ter) | gnomAD v4 |
| 8 | g.60838173A>C | CA371318262 | CHD7 | c.4451A>C (p.Glu1484Ala) c.1717-24056A>C (n.1717-24056A>C) c.2438A>C (p.Glu813Ala) c.1988A>C (p.Glu663Ala) c.1196A>C (p.Glu399Ala) | |
| 8 | g.60838173A>G | CA371318263 | CHD7 | c.4451A>G (p.Glu1484Gly) c.1717-24056A>G (n.1717-24056A>G) c.2438A>G (p.Glu813Gly) c.1988A>G (p.Glu663Gly) c.1196A>G (p.Glu399Gly) | |
| 8 | g.60838173A>T | CA371318264 | CHD7 | c.4451A>T (p.Glu1484Val) c.1717-24056A>T (n.1717-24056A>T) c.2438A>T (p.Glu813Val) c.1988A>T (p.Glu663Val) c.1196A>T (p.Glu399Val) | |
| 8 | g.60838174A>C | CA371318265 | CHD7 | c.4452A>C (p.Glu1484Asp) c.1717-24055A>C (n.1717-24055A>C) c.2439A>C (p.Glu813Asp) c.1989A>C (p.Glu663Asp) c.1197A>C (p.Glu399Asp) | |
| 8 | g.60838174A>G | CA460847214 | CHD7 | c.4452A>G (p.Glu1484=) c.1717-24055A>G (n.1717-24055A>G) c.2439A>G (p.Glu813=) c.1989A>G (p.Glu663=) c.1197A>G (p.Glu399=) | |
| 8 | g.60838174A>T | CA371318266 | CHD7 | c.4452A>T (p.Glu1484Asp) c.1717-24055A>T (n.1717-24055A>T) c.2439A>T (p.Glu813Asp) c.1989A>T (p.Glu663Asp) c.1197A>T (p.Glu399Asp) | gnomAD v4 |
| 8 | g.60838175G>A | CA371318267 | CHD7 | c.4453G>A (p.Glu1485Lys) c.1717-24054G>A (n.1717-24054G>A) c.2440G>A (p.Glu814Lys) c.1990G>A (p.Glu664Lys) c.1198G>A (p.Glu400Lys) | |
| 8 | g.60838175G>C | CA371318268 | CHD7 | c.4453G>C (p.Glu1485Gln) c.1717-24054G>C (n.1717-24054G>C) c.2440G>C (p.Glu814Gln) c.1990G>C (p.Glu664Gln) c.1198G>C (p.Glu400Gln) | |
| 8 | g.60838175G>T | CA371318269 | CHD7 | c.4453G>T (p.Glu1485Ter) c.1717-24054G>T (n.1717-24054G>T) c.2440G>T (p.Glu814Ter) c.1990G>T (p.Glu664Ter) c.1198G>T (p.Glu400Ter) | gnomAD v4 |
| 8 | g.60838176A>C | CA371318270 | CHD7 | c.4454A>C (p.Glu1485Ala) c.1717-24053A>C (n.1717-24053A>C) c.2441A>C (p.Glu814Ala) c.1991A>C (p.Glu664Ala) c.1199A>C (p.Glu400Ala) | |
| 8 | g.60838176A>G | CA371318271 | CHD7 | c.4454A>G (p.Glu1485Gly) c.1717-24053A>G (n.1717-24053A>G) c.2441A>G (p.Glu814Gly) c.1991A>G (p.Glu664Gly) c.1199A>G (p.Glu400Gly) | |
| 8 | g.60838176A>T | CA371318272 | CHD7 | c.4454A>T (p.Glu1485Val) c.1717-24053A>T (n.1717-24053A>T) c.2441A>T (p.Glu814Val) c.1991A>T (p.Glu664Val) c.1199A>T (p.Glu400Val) | |
| 8 | g.60838177A>C | CA371318273 | CHD7 | c.4455A>C (p.Glu1485Asp) c.1717-24052A>C (n.1717-24052A>C) c.2442A>C (p.Glu814Asp) c.1992A>C (p.Glu664Asp) c.1200A>C (p.Glu400Asp) | |
| 8 | g.60838177A>G | CA460847215 | CHD7 | c.4455A>G (p.Glu1485=) c.1717-24052A>G (n.1717-24052A>G) c.2442A>G (p.Glu814=) c.1992A>G (p.Glu664=) c.1200A>G (p.Glu400=) | ClinVar |
| 8 | g.60838177A>T | CA371318274 | CHD7 | c.4455A>T (p.Glu1485Asp) c.1717-24052A>T (n.1717-24052A>T) c.2442A>T (p.Glu814Asp) c.1992A>T (p.Glu664Asp) c.1200A>T (p.Glu400Asp) | |
| 8 | g.60838178G>A | CA371318275 | CHD7 | c.4456G>A (p.Asp1486Asn) c.1717-24051G>A (n.1717-24051G>A) c.2443G>A (p.Asp815Asn) c.1993G>A (p.Asp665Asn) c.1201G>A (p.Asp401Asn) | dbSNP gnomAD v2 |
| 8 | g.60838178G>C | CA371318276 | CHD7 | c.4456G>C (p.Asp1486His) c.1717-24051G>C (n.1717-24051G>C) c.2443G>C (p.Asp815His) c.1993G>C (p.Asp665His) c.1201G>C (p.Asp401His) | |
| 8 | g.60838178G= | CA1788116161 | CHD7 | c.4456G= (p.Asp1486=) c.1717-24051G= (n.1717-24051G=) c.2443G= (p.Asp815=) c.1993G= (p.Asp665=) c.1201G= (p.Asp401=) | |
| 8 | g.60838178G>T | CA371318277 | CHD7 | c.4456G>T (p.Asp1486Tyr) c.1717-24051G>T (n.1717-24051G>T) c.2443G>T (p.Asp815Tyr) c.1993G>T (p.Asp665Tyr) c.1201G>T (p.Asp401Tyr) | gnomAD v4 |
| 8 | g.60838179A>C | CA371318279 | CHD7 | c.4457A>C (p.Asp1486Ala) c.1717-24050A>C (n.1717-24050A>C) c.2444A>C (p.Asp815Ala) c.1994A>C (p.Asp665Ala) c.1202A>C (p.Asp401Ala) | |
| 8 | g.60838179A>G | CA371318280 | CHD7 | c.4457A>G (p.Asp1486Gly) c.1717-24050A>G (n.1717-24050A>G) c.2444A>G (p.Asp815Gly) c.1994A>G (p.Asp665Gly) c.1202A>G (p.Asp401Gly) | |
| 8 | g.60838179A>T | CA371318278 | CHD7 | c.4457A>T (p.Asp1486Val) c.1717-24050A>T (n.1717-24050A>T) c.2444A>T (p.Asp815Val) c.1994A>T (p.Asp665Val) c.1202A>T (p.Asp401Val) | |
| 8 | g.60838180T>A | CA371318281 | CHD7 | c.4458T>A (p.Asp1486Glu) c.1717-24049T>A (n.1717-24049T>A) c.2445T>A (p.Asp815Glu) c.1995T>A (p.Asp665Glu) c.1203T>A (p.Asp401Glu) | |
| 8 | g.60838180T>C | CA460847216 | CHD7 | c.4458T>C (p.Asp1486=) c.1717-24049T>C (n.1717-24049T>C) c.2445T>C (p.Asp815=) c.1995T>C (p.Asp665=) c.1203T>C (p.Asp401=) | |
| 8 | g.60838180T>G | CA371318282 | CHD7 | c.4458T>G (p.Asp1486Glu) c.1717-24049T>G (n.1717-24049T>G) c.2445T>G (p.Asp815Glu) c.1995T>G (p.Asp665Glu) c.1203T>G (p.Asp401Glu) | |
| 8 | g.60838181A>C | CA371318283 | CHD7 | c.4459A>C (p.Ile1487Leu) c.1717-24048A>C (n.1717-24048A>C) c.2446A>C (p.Ile816Leu) c.1996A>C (p.Ile666Leu) c.1204A>C (p.Ile402Leu) | |
| 8 | g.60838181A>G | CA371318284 | CHD7 | c.4459A>G (p.Ile1487Val) c.1717-24048A>G (n.1717-24048A>G) c.2446A>G (p.Ile816Val) c.1996A>G (p.Ile666Val) c.1204A>G (p.Ile402Val) | |
| 8 | g.60838181A>T | CA371318285 | CHD7 | c.4459A>T (p.Ile1487Phe) c.1717-24048A>T (n.1717-24048A>T) c.2446A>T (p.Ile816Phe) c.1996A>T (p.Ile666Phe) c.1204A>T (p.Ile402Phe) | |
| 8 | g.60838182T>A | CA371318286 | CHD7 | c.4460T>A (p.Ile1487Asn) c.1717-24047T>A (n.1717-24047T>A) c.2447T>A (p.Ile816Asn) c.1997T>A (p.Ile666Asn) c.1205T>A (p.Ile402Asn) | gnomAD v4 |
| 8 | g.60838182T>C | CA371318287 | CHD7 | c.4460T>C (p.Ile1487Thr) c.1717-24047T>C (n.1717-24047T>C) c.2447T>C (p.Ile816Thr) c.1997T>C (p.Ile666Thr) c.1205T>C (p.Ile402Thr) | dbSNP |
| 8 | g.60838182T>G | CA371318288 | CHD7 | c.4460T>G (p.Ile1487Ser) c.1717-24047T>G (n.1717-24047T>G) c.2447T>G (p.Ile816Ser) c.1997T>G (p.Ile666Ser) c.1205T>G (p.Ile402Ser) | |
| 8 | g.60838182T= | CA1788116190 | CHD7 | c.4460T= (p.Ile1487=) c.1717-24047T= (n.1717-24047T=) c.2447T= (p.Ile816=) c.1997T= (p.Ile666=) c.1205T= (p.Ile402=) | |
| 8 | g.60838183T>A | CA460847217 | CHD7 | c.4461T>A (p.Ile1487=) c.1717-24046T>A (n.1717-24046T>A) c.2448T>A (p.Ile816=) c.1998T>A (p.Ile666=) c.1206T>A (p.Ile402=) | |
| 8 | g.60838183T>C | CA460847218 | CHD7 | c.4461T>C (p.Ile1487=) c.1717-24046T>C (n.1717-24046T>C) c.2448T>C (p.Ile816=) c.1998T>C (p.Ile666=) c.1206T>C (p.Ile402=) | |
| 8 | g.60838183T>G | CA371318289 | CHD7 | c.4461T>G (p.Ile1487Met) c.1717-24046T>G (n.1717-24046T>G) c.2448T>G (p.Ile816Met) c.1998T>G (p.Ile666Met) c.1206T>G (p.Ile402Met) | |
| 8 | g.60838184G>A | CA371318290 | CHD7 | c.4462G>A (p.Asp1488Asn) c.1717-24045G>A (n.1717-24045G>A) c.2449G>A (p.Asp817Asn) c.1999G>A (p.Asp667Asn) c.1207G>A (p.Asp403Asn) | |
| 8 | g.60838184G>C | CA371318291 | CHD7 | c.4462G>C (p.Asp1488His) c.1717-24045G>C (n.1717-24045G>C) c.2449G>C (p.Asp817His) c.1999G>C (p.Asp667His) c.1207G>C (p.Asp403His) | gnomAD v4 |
| 8 | g.60838184G>T | CA371318292 | CHD7 | c.4462G>T (p.Asp1488Tyr) c.1717-24045G>T (n.1717-24045G>T) c.2449G>T (p.Asp817Tyr) c.1999G>T (p.Asp667Tyr) c.1207G>T (p.Asp403Tyr) | gnomAD v4 COSMIC |
| 8 | g.60838185A>C | CA371318294 | CHD7 | c.4463A>C (p.Asp1488Ala) c.1717-24044A>C (n.1717-24044A>C) c.2450A>C (p.Asp817Ala) c.2000A>C (p.Asp667Ala) c.1208A>C (p.Asp403Ala) | |
| 8 | g.60838185A>G | CA371318295 | CHD7 | c.4463A>G (p.Asp1488Gly) c.1717-24044A>G (n.1717-24044A>G) c.2450A>G (p.Asp817Gly) c.2000A>G (p.Asp667Gly) c.1208A>G (p.Asp403Gly) | |
| 8 | g.60838185A>T | CA371318293 | CHD7 | c.4463A>T (p.Asp1488Val) c.1717-24044A>T (n.1717-24044A>T) c.2450A>T (p.Asp817Val) c.2000A>T (p.Asp667Val) c.1208A>T (p.Asp403Val) | gnomAD v4 |
| 8 | g.60838186T>A | CA371318296 | CHD7 | c.4464T>A (p.Asp1488Glu) c.1717-24043T>A (n.1717-24043T>A) c.2451T>A (p.Asp817Glu) c.2001T>A (p.Asp667Glu) c.1209T>A (p.Asp403Glu) | |
| 8 | g.60838186T>C | CA460847219 | CHD7 | c.4464T>C (p.Asp1488=) c.1717-24043T>C (n.1717-24043T>C) c.2451T>C (p.Asp817=) c.2001T>C (p.Asp667=) c.1209T>C (p.Asp403=) | |
| 8 | g.60838186T>G | CA371318297 | CHD7 | c.4464T>G (p.Asp1488Glu) c.1717-24043T>G (n.1717-24043T>G) c.2451T>G (p.Asp817Glu) c.2001T>G (p.Asp667Glu) c.1209T>G (p.Asp403Glu) | |
| 8 | g.60838187C>A | CA371318298 | CHD7 | c.4465C>A (p.Gln1489Lys) c.1717-24042C>A (n.1717-24042C>A) c.2452C>A (p.Gln818Lys) c.2002C>A (p.Gln668Lys) c.1210C>A (p.Gln404Lys) | gnomAD v4 |
| 8 | g.60838187C>G | CA371318299 | CHD7 | c.4465C>G (p.Gln1489Glu) c.1717-24042C>G (n.1717-24042C>G) c.2452C>G (p.Gln818Glu) c.2002C>G (p.Gln668Glu) c.1210C>G (p.Gln404Glu) | |
| 8 | g.60838187C>T | CA371318300 | CHD7 | c.4465C>T (p.Gln1489Ter) c.1717-24042C>T (n.1717-24042C>T) c.2452C>T (p.Gln818Ter) c.2002C>T (p.Gln668Ter) c.1210C>T (p.Gln404Ter) | gnomAD v4 |
| 8 | g.60838188A>C | CA371318303 | CHD7 | c.4466A>C (p.Gln1489Pro) c.1717-24041A>C (n.1717-24041A>C) c.2453A>C (p.Gln818Pro) c.2003A>C (p.Gln668Pro) c.1211A>C (p.Gln404Pro) | |
| 8 | g.60838188A>G | CA371318301 | CHD7 | c.4466A>G (p.Gln1489Arg) c.1717-24041A>G (n.1717-24041A>G) c.2453A>G (p.Gln818Arg) c.2003A>G (p.Gln668Arg) c.1211A>G (p.Gln404Arg) | |
| 8 | g.60838188A>T | CA371318302 | CHD7 | c.4466A>T (p.Gln1489Leu) c.1717-24041A>T (n.1717-24041A>T) c.2453A>T (p.Gln818Leu) c.2003A>T (p.Gln668Leu) c.1211A>T (p.Gln404Leu) | gnomAD v4 |
| 8 | g.60838189G>A | CA460847220 | CHD7 | c.4467G>A (p.Gln1489=) c.1717-24040G>A (n.1717-24040G>A) c.2454G>A (p.Gln818=) c.2004G>A (p.Gln668=) c.1212G>A (p.Gln404=) | gnomAD v4 |
| 8 | g.60838189G>C | CA371318304 | CHD7 | c.4467G>C (p.Gln1489His) c.1717-24040G>C (n.1717-24040G>C) c.2454G>C (p.Gln818His) c.2004G>C (p.Gln668His) c.1212G>C (p.Gln404His) | |
| 8 | g.60838189G= | CA1788116196 | CHD7 | c.4467G= (p.Gln1489=) c.1717-24040G= (n.1717-24040G=) c.2454G= (p.Gln818=) c.2004G= (p.Gln668=) c.1212G= (p.Gln404=) | |
| 8 | g.60838189G>T | CA371318305 | CHD7 | c.4467G>T (p.Gln1489His) c.1717-24040G>T (n.1717-24040G>T) c.2454G>T (p.Gln818His) c.2004G>T (p.Gln668His) c.1212G>T (p.Gln404His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60838190A>C | CA371318306 | CHD7 | c.4468A>C (p.Ile1490Leu) c.1717-24039A>C (n.1717-24039A>C) c.2455A>C (p.Ile819Leu) c.2005A>C (p.Ile669Leu) c.1213A>C (p.Ile405Leu) | |
| 8 | g.60838190A>G | CA371318307 | CHD7 | c.4468A>G (p.Ile1490Val) c.1717-24039A>G (n.1717-24039A>G) c.2455A>G (p.Ile819Val) c.2005A>G (p.Ile669Val) c.1213A>G (p.Ile405Val) | |
| 8 | g.60838190A>T | CA371318308 | CHD7 | c.4468A>T (p.Ile1490Phe) c.1717-24039A>T (n.1717-24039A>T) c.2455A>T (p.Ile819Phe) c.2005A>T (p.Ile669Phe) c.1213A>T (p.Ile405Phe) | |
| 8 | g.60838191T>A | CA371318311 | CHD7 | c.4469T>A (p.Ile1490Asn) c.1717-24038T>A (n.1717-24038T>A) c.2456T>A (p.Ile819Asn) c.2006T>A (p.Ile669Asn) c.1214T>A (p.Ile405Asn) | |
| 8 | g.60838191T>C | CA371318310 | CHD7 | c.4469T>C (p.Ile1490Thr) c.1717-24038T>C (n.1717-24038T>C) c.2456T>C (p.Ile819Thr) c.2006T>C (p.Ile669Thr) c.1214T>C (p.Ile405Thr) | ClinVar gnomAD v4 |
| 8 | g.60838191T>G | CA371318309 | CHD7 | c.4469T>G (p.Ile1490Ser) c.1717-24038T>G (n.1717-24038T>G) c.2456T>G (p.Ile819Ser) c.2006T>G (p.Ile669Ser) c.1214T>G (p.Ile405Ser) | |
| 8 | g.60838192C>A | CA460847221 | CHD7 | c.4470C>A (p.Ile1490=) c.1717-24037C>A (n.1717-24037C>A) c.2457C>A (p.Ile819=) c.2007C>A (p.Ile669=) c.1215C>A (p.Ile405=) | gnomAD v4 |
| 8 | g.60838192C= | CA1788116201 | CHD7 | c.4470C= (p.Ile1490=) c.1717-24037C= (n.1717-24037C=) c.2457C= (p.Ile819=) c.2007C= (p.Ile669=) c.1215C= (p.Ile405=) | |
| 8 | g.60838192C>G | CA371318312 | CHD7 | c.4470C>G (p.Ile1490Met) c.1717-24037C>G (n.1717-24037C>G) c.2457C>G (p.Ile819Met) c.2007C>G (p.Ile669Met) c.1215C>G (p.Ile405Met) | |
| 8 | g.60838192C>T | CA460847222 | CHD7 | c.4470C>T (p.Ile1490=) c.1717-24037C>T (n.1717-24037C>T) c.2457C>T (p.Ile819=) c.2007C>T (p.Ile669=) c.1215C>T (p.Ile405=) | dbSNP |
| 8 | g.60838193C>A | CA371318313 | CHD7 | c.4471C>A (p.Leu1491Ile) c.1717-24036C>A (n.1717-24036C>A) c.2458C>A (p.Leu820Ile) c.2008C>A (p.Leu670Ile) c.1216C>A (p.Leu406Ile) | gnomAD v4 |
| 8 | g.60838193C>G | CA371318314 | CHD7 | c.4471C>G (p.Leu1491Val) c.1717-24036C>G (n.1717-24036C>G) c.2458C>G (p.Leu820Val) c.2008C>G (p.Leu670Val) c.1216C>G (p.Leu406Val) | |
| 8 | g.60838193C>T | CA371318315 | CHD7 | c.4471C>T (p.Leu1491Phe) c.1717-24036C>T (n.1717-24036C>T) c.2458C>T (p.Leu820Phe) c.2008C>T (p.Leu670Phe) c.1216C>T (p.Leu406Phe) | |
| 8 | g.60838194T>A | CA371318316 | CHD7 | c.4472T>A (p.Leu1491His) c.1717-24035T>A (n.1717-24035T>A) c.2459T>A (p.Leu820His) c.2009T>A (p.Leu670His) c.1217T>A (p.Leu406His) | |
| 8 | g.60838194T>C | CA371318317 | CHD7 | c.4472T>C (p.Leu1491Pro) c.1717-24035T>C (n.1717-24035T>C) c.2459T>C (p.Leu820Pro) c.2009T>C (p.Leu670Pro) c.1217T>C (p.Leu406Pro) | |
| 8 | g.60838194T>G | CA371318318 | CHD7 | c.4472T>G (p.Leu1491Arg) c.1717-24035T>G (n.1717-24035T>G) c.2459T>G (p.Leu820Arg) c.2009T>G (p.Leu670Arg) c.1217T>G (p.Leu406Arg) | |
| 8 | g.60838195C>A | CA460847223 | CHD7 | c.4473C>A (p.Leu1491=) c.1717-24034C>A (n.1717-24034C>A) c.2460C>A (p.Leu820=) c.2010C>A (p.Leu670=) c.1218C>A (p.Leu406=) | gnomAD v4 |
| 8 | g.60838195C= | CA1788116244 | CHD7 | c.4473C= (p.Leu1491=) c.1717-24034C= (n.1717-24034C=) c.2460C= (p.Leu820=) c.2010C= (p.Leu670=) c.1218C= (p.Leu406=) | |
| 8 | g.60838195C>G | CA460847224 | CHD7 | c.4473C>G (p.Leu1491=) c.1717-24034C>G (n.1717-24034C>G) c.2460C>G (p.Leu820=) c.2010C>G (p.Leu670=) c.1218C>G (p.Leu406=) | |
| 8 | g.60838195C>T | CA460847225 | CHD7 | c.4473C>T (p.Leu1491=) c.1717-24034C>T (n.1717-24034C>T) c.2460C>T (p.Leu820=) c.2010C>T (p.Leu670=) c.1218C>T (p.Leu406=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60838196C>A | CA371318319 | CHD7 | c.4474C>A (p.Leu1492Ile) c.1717-24033C>A (n.1717-24033C>A) c.2461C>A (p.Leu821Ile) c.2011C>A (p.Leu671Ile) c.1219C>A (p.Leu407Ile) | gnomAD v4 |
| 8 | g.60838196C= | CA1788116246 | CHD7 | c.4474C= (p.Leu1492=) c.1717-24033C= (n.1717-24033C=) c.2461C= (p.Leu821=) c.2011C= (p.Leu671=) c.1219C= (p.Leu407=) | |
| 8 | g.60838196C>G | CA371318320 | CHD7 | c.4474C>G (p.Leu1492Val) c.1717-24033C>G (n.1717-24033C>G) c.2461C>G (p.Leu821Val) c.2011C>G (p.Leu671Val) c.1219C>G (p.Leu407Val) | ClinVar |
| 8 | g.60838196C>T | CA4760127 | CHD7 | c.4474C>T (p.Leu1492=) c.1717-24033C>T (n.1717-24033C>T) c.2461C>T (p.Leu821=) c.2011C>T (p.Leu671=) c.1219C>T (p.Leu407=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60838197T>A | CA371318321 | CHD7 | c.4475T>A (p.Leu1492Gln) c.1717-24032T>A (n.1717-24032T>A) c.2462T>A (p.Leu821Gln) c.2012T>A (p.Leu671Gln) c.1220T>A (p.Leu407Gln) | |
| 8 | g.60838197T>C | CA371318322 | CHD7 | c.4475T>C (p.Leu1492Pro) c.1717-24032T>C (n.1717-24032T>C) c.2462T>C (p.Leu821Pro) c.2012T>C (p.Leu671Pro) c.1220T>C (p.Leu407Pro) | |
| 8 | g.60838197T>G | CA371318323 | CHD7 | c.4475T>G (p.Leu1492Arg) c.1717-24032T>G (n.1717-24032T>G) c.2462T>G (p.Leu821Arg) c.2012T>G (p.Leu671Arg) c.1220T>G (p.Leu407Arg) | |
| 8 | g.60838198A= | CA1788116251 | CHD7 | c.4476A= (p.Leu1492=) c.1717-24031A= (n.1717-24031A=) c.2463A= (p.Leu821=) c.2013A= (p.Leu671=) c.1221A= (p.Leu407=) | |
| 8 | g.60838198A>C | CA460847228 | CHD7 | c.4476A>C (p.Leu1492=) c.1717-24031A>C (n.1717-24031A>C) c.2463A>C (p.Leu821=) c.2013A>C (p.Leu671=) c.1221A>C (p.Leu407=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60838198A>G | CA460847227 | CHD7 | c.4476A>G (p.Leu1492=) c.1717-24031A>G (n.1717-24031A>G) c.2463A>G (p.Leu821=) c.2013A>G (p.Leu671=) c.1221A>G (p.Leu407=) | ClinVar dbSNP |
| 8 | g.60838198A>T | CA460847226 | CHD7 | c.4476A>T (p.Leu1492=) c.1717-24031A>T (n.1717-24031A>T) c.2463A>T (p.Leu821=) c.2013A>T (p.Leu671=) c.1221A>T (p.Leu407=) | |
| 8 | g.60838199C>A | CA371318325 | CHD7 | c.4477C>A (p.Arg1493Ser) c.1717-24030C>A (n.1717-24030C>A) c.2464C>A (p.Arg822Ser) c.2014C>A (p.Arg672Ser) c.1222C>A (p.Arg408Ser) | gnomAD v4 |
| 8 | g.60838199C= | CA1788116263 | CHD7 | c.4477C= (p.Arg1493=) c.1717-24030C= (n.1717-24030C=) c.2464C= (p.Arg822=) c.2014C= (p.Arg672=) c.1222C= (p.Arg408=) | |
| 8 | g.60838199C>G | CA371318324 | CHD7 | c.4477C>G (p.Arg1493Gly) c.1717-24030C>G (n.1717-24030C>G) c.2464C>G (p.Arg822Gly) c.2014C>G (p.Arg672Gly) c.1222C>G (p.Arg408Gly) | |
| 8 | g.60838199C>T | CA177348676 | CHD7 | c.4477C>T (p.Arg1493Cys) c.1717-24030C>T (n.1717-24030C>T) c.2464C>T (p.Arg822Cys) c.2014C>T (p.Arg672Cys) c.1222C>T (p.Arg408Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60838199dup | CA2695209713 | CHD7 | c.4477dup (p.Arg1493ProfsTer9) c.1717-24030dup (n.1717-24030dup) c.2464dup (p.Arg822ProfsTer9) c.2014dup (p.Arg672ProfsTer9) c.1222dup (p.Arg408ProfsTer9) | |
| 8 | g.60838200G>A | CA371318326 | CHD7 | c.4478G>A (p.Arg1493His) c.1717-24029G>A (n.1717-24029G>A) c.2465G>A (p.Arg822His) c.2015G>A (p.Arg672His) c.1223G>A (p.Arg408His) | dbSNP gnomAD v4 COSMIC |
| 8 | g.60838200G>C | CA371318327 | CHD7 | c.4478G>C (p.Arg1493Pro) c.1717-24029G>C (n.1717-24029G>C) c.2465G>C (p.Arg822Pro) c.2015G>C (p.Arg672Pro) c.1223G>C (p.Arg408Pro) | |
| 8 | g.60838200G>T | CA371318328 | CHD7 | c.4478G>T (p.Arg1493Leu) c.1717-24029G>T (n.1717-24029G>T) c.2465G>T (p.Arg822Leu) c.2015G>T (p.Arg672Leu) c.1223G>T (p.Arg408Leu) | |
| 8 | g.60838201T>A | CA460847231 | CHD7 | c.4479T>A (p.Arg1493=) c.1717-24028T>A (n.1717-24028T>A) c.2466T>A (p.Arg822=) c.2016T>A (p.Arg672=) c.1224T>A (p.Arg408=) | |
| 8 | g.60838201T>C | CA460847230 | CHD7 | c.4479T>C (p.Arg1493=) c.1717-24028T>C (n.1717-24028T>C) c.2466T>C (p.Arg822=) c.2016T>C (p.Arg672=) c.1224T>C (p.Arg408=) | |
| 8 | g.60838201T>G | CA460847229 | CHD7 | c.4479T>G (p.Arg1493=) c.1717-24028T>G (n.1717-24028T>G) c.2466T>G (p.Arg822=) c.2016T>G (p.Arg672=) c.1224T>G (p.Arg408=) | |
| 8 | g.60838202C>A | CA460847232 | CHD7 | c.4480C>A (p.Arg1494=) c.1717-24027C>A (n.1717-24027C>A) c.2467C>A (p.Arg823=) c.2017C>A (p.Arg673=) c.1225C>A (p.Arg409=) | |
| 8 | g.60838202C= | CA1788116270 | CHD7 | c.4480C= (p.Arg1494=) c.1717-24027C= (n.1717-24027C=) c.2467C= (p.Arg823=) c.2017C= (p.Arg673=) c.1225C= (p.Arg409=) | |
| 8 | g.60838202C>G | CA371318329 | CHD7 | c.4480C>G (p.Arg1494Gly) c.1717-24027C>G (n.1717-24027C>G) c.2467C>G (p.Arg823Gly) c.2017C>G (p.Arg673Gly) c.1225C>G (p.Arg409Gly) | |
| 8 | g.60838202C>T | CA333500 | CHD7 | c.4480C>T (p.Arg1494Ter) c.1717-24027C>T (n.1717-24027C>T) c.2467C>T (p.Arg823Ter) c.2017C>T (p.Arg673Ter) c.1225C>T (p.Arg409Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60838203G>A | CA371318330 | CHD7 | c.4481G>A (p.Arg1494Gln) c.1717-24026G>A (n.1717-24026G>A) c.2468G>A (p.Arg823Gln) c.2018G>A (p.Arg673Gln) c.1226G>A (p.Arg409Gln) | gnomAD v4 |
| 8 | g.60838203G>C | CA371318331 | CHD7 | c.4481G>C (p.Arg1494Pro) c.1717-24026G>C (n.1717-24026G>C) c.2468G>C (p.Arg823Pro) c.2018G>C (p.Arg673Pro) c.1226G>C (p.Arg409Pro) | |
| 8 | g.60838203G>T | CA371318332 | CHD7 | c.4481G>T (p.Arg1494Leu) c.1717-24026G>T (n.1717-24026G>T) c.2468G>T (p.Arg823Leu) c.2018G>T (p.Arg673Leu) c.1226G>T (p.Arg409Leu) | gnomAD v4 |
| 8 | g.60838204A= | CA1788116277 | CHD7 | c.4482A= (p.Arg1494=) c.1717-24025A= (n.1717-24025A=) c.2469A= (p.Arg823=) c.2019A= (p.Arg673=) c.1227A= (p.Arg409=) | |
| 8 | g.60838204A>C | CA460847233 | CHD7 | c.4482A>C (p.Arg1494=) c.1717-24025A>C (n.1717-24025A>C) c.2469A>C (p.Arg823=) c.2019A>C (p.Arg673=) c.1227A>C (p.Arg409=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60838204A>G | CA460847235 | CHD7 | c.4482A>G (p.Arg1494=) c.1717-24025A>G (n.1717-24025A>G) c.2469A>G (p.Arg823=) c.2019A>G (p.Arg673=) c.1227A>G (p.Arg409=) | |
| 8 | g.60838204A>T | CA460847234 | CHD7 | c.4482A>T (p.Arg1494=) c.1717-24025A>T (n.1717-24025A>T) c.2469A>T (p.Arg823=) c.2019A>T (p.Arg673=) c.1227A>T (p.Arg409=) | |
| 8 | g.60838205A= | CA1788116284 | CHD7 | c.4483A= (p.Thr1495=) c.1717-24024A= (n.1717-24024A=) c.2470A= (p.Thr824=) c.2020A= (p.Thr674=) c.1228A= (p.Thr410=) | |
| 8 | g.60838205A>C | CA371318333 | CHD7 | c.4483A>C (p.Thr1495Pro) c.1717-24024A>C (n.1717-24024A>C) c.2470A>C (p.Thr824Pro) c.2020A>C (p.Thr674Pro) c.1228A>C (p.Thr410Pro) | |
| 8 | g.60838205A>G | CA371318334 | CHD7 | c.4483A>G (p.Thr1495Ala) c.1717-24024A>G (n.1717-24024A>G) c.2470A>G (p.Thr824Ala) c.2020A>G (p.Thr674Ala) c.1228A>G (p.Thr410Ala) | dbSNP gnomAD v4 |
| 8 | g.60838205A>T | CA371318335 | CHD7 | c.4483A>T (p.Thr1495Ser) c.1717-24024A>T (n.1717-24024A>T) c.2470A>T (p.Thr824Ser) c.2020A>T (p.Thr674Ser) c.1228A>T (p.Thr410Ser) | |
| 8 | g.60838206C>A | CA371318336 | CHD7 | c.4484C>A (p.Thr1495Asn) c.1717-24023C>A (n.1717-24023C>A) c.2471C>A (p.Thr824Asn) c.2021C>A (p.Thr674Asn) c.1229C>A (p.Thr410Asn) | |
| 8 | g.60838206C>G | CA371318337 | CHD7 | c.4484C>G (p.Thr1495Ser) c.1717-24023C>G (n.1717-24023C>G) c.2471C>G (p.Thr824Ser) c.2021C>G (p.Thr674Ser) c.1229C>G (p.Thr410Ser) | |
| 8 | g.60838206C>T | CA371318338 | CHD7 | c.4484C>T (p.Thr1495Ile) c.1717-24023C>T (n.1717-24023C>T) c.2471C>T (p.Thr824Ile) c.2021C>T (p.Thr674Ile) c.1229C>T (p.Thr410Ile) | |
| 8 | g.60838207C>A | CA460847236 | CHD7 | c.4485C>A (p.Thr1495=) c.1717-24022C>A (n.1717-24022C>A) c.2472C>A (p.Thr824=) c.2022C>A (p.Thr674=) c.1230C>A (p.Thr410=) | gnomAD v4 |
| 8 | g.60838207C>G | CA460847237 | CHD7 | c.4485C>G (p.Thr1495=) c.1717-24022C>G (n.1717-24022C>G) c.2472C>G (p.Thr824=) c.2022C>G (p.Thr674=) c.1230C>G (p.Thr410=) | |
| 8 | g.60838207C>T | CA460847238 | CHD7 | c.4485C>T (p.Thr1495=) c.1717-24022C>T (n.1717-24022C>T) c.2472C>T (p.Thr824=) c.2022C>T (p.Thr674=) c.1230C>T (p.Thr410=) | |
| 8 | g.60838208C>A | CA371318340 | CHD7 | c.4486C>A (p.His1496Asn) c.1717-24021C>A (n.1717-24021C>A) c.2473C>A (p.His825Asn) c.2023C>A (p.His675Asn) c.1231C>A (p.His411Asn) | gnomAD v4 |
| 8 | g.60838208C>G | CA371318341 | CHD7 | c.4486C>G (p.His1496Asp) c.1717-24021C>G (n.1717-24021C>G) c.2473C>G (p.His825Asp) c.2023C>G (p.His675Asp) c.1231C>G (p.His411Asp) | |
| 8 | g.60838208C>T | CA371318339 | CHD7 | c.4486C>T (p.His1496Tyr) c.1717-24021C>T (n.1717-24021C>T) c.2473C>T (p.His825Tyr) c.2023C>T (p.His675Tyr) c.1231C>T (p.His411Tyr) | |
| 8 | g.60838209A>C | CA371318342 | CHD7 | c.4487A>C (p.His1496Pro) c.1717-24020A>C (n.1717-24020A>C) c.2474A>C (p.His825Pro) c.2024A>C (p.His675Pro) c.1232A>C (p.His411Pro) | |
| 8 | g.60838209A>G | CA371318343 | CHD7 | c.4487A>G (p.His1496Arg) c.1717-24020A>G (n.1717-24020A>G) c.2474A>G (p.His825Arg) c.2024A>G (p.His675Arg) c.1232A>G (p.His411Arg) | gnomAD v4 |
| 8 | g.60838209A>T | CA371318344 | CHD7 | c.4487A>T (p.His1496Leu) c.1717-24020A>T (n.1717-24020A>T) c.2474A>T (p.His825Leu) c.2024A>T (p.His675Leu) c.1232A>T (p.His411Leu) | |
| 8 | g.60838210C>A | CA371318345 | CHD7 | c.4488C>A (p.His1496Gln) c.1717-24019C>A (n.1717-24019C>A) c.2475C>A (p.His825Gln) c.2025C>A (p.His675Gln) c.1233C>A (p.His411Gln) | |
| 8 | g.60838210C= | CA1788116288 | CHD7 | c.4488C= (p.His1496=) c.1717-24019C= (n.1717-24019C=) c.2475C= (p.His825=) c.2025C= (p.His675=) c.1233C= (p.His411=) | |
| 8 | g.60838210C>G | CA371318346 | CHD7 | c.4488C>G (p.His1496Gln) c.1717-24019C>G (n.1717-24019C>G) c.2475C>G (p.His825Gln) c.2025C>G (p.His675Gln) c.1233C>G (p.His411Gln) | |
| 8 | g.60838210C>T | CA4760128 | CHD7 | c.4488C>T (p.His1496=) c.1717-24019C>T (n.1717-24019C>T) c.2475C>T (p.His825=) c.2025C>T (p.His675=) c.1233C>T (p.His411=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60838211A>C | CA371318347 | CHD7 | c.4489A>C (p.Thr1497Pro) c.1717-24018A>C (n.1717-24018A>C) c.2476A>C (p.Thr826Pro) c.2026A>C (p.Thr676Pro) c.1234A>C (p.Thr412Pro) | |
| 8 | g.60838211A>G | CA371318348 | CHD7 | c.4489A>G (p.Thr1497Ala) c.1717-24018A>G (n.1717-24018A>G) c.2476A>G (p.Thr826Ala) c.2026A>G (p.Thr676Ala) c.1234A>G (p.Thr412Ala) | |
| 8 | g.60838211A>T | CA371318349 | CHD7 | c.4489A>T (p.Thr1497Ser) c.1717-24018A>T (n.1717-24018A>T) c.2476A>T (p.Thr826Ser) c.2026A>T (p.Thr676Ser) c.1234A>T (p.Thr412Ser) | |
| 8 | g.60838212C>A | CA371318350 | CHD7 | c.4490C>A (p.Thr1497Asn) c.1717-24017C>A (n.1717-24017C>A) c.2477C>A (p.Thr826Asn) c.2027C>A (p.Thr676Asn) c.1235C>A (p.Thr412Asn) | gnomAD v4 |
| 8 | g.60838212C>G | CA371318351 | CHD7 | c.4490C>G (p.Thr1497Ser) c.1717-24017C>G (n.1717-24017C>G) c.2477C>G (p.Thr826Ser) c.2027C>G (p.Thr676Ser) c.1235C>G (p.Thr412Ser) | |
| 8 | g.60838212C>T | CA371318352 | CHD7 | c.4490C>T (p.Thr1497Ile) c.1717-24017C>T (n.1717-24017C>T) c.2477C>T (p.Thr826Ile) c.2027C>T (p.Thr676Ile) c.1235C>T (p.Thr412Ile) | |
| 8 | g.60838213del | CA2687399302 | CHD7 | c.4491del (p.Ile1498LeufsTer?) c.1717-24016del (n.1717-24016del) c.2478del (p.Ile827LeufsTer?) c.2028del (p.Ile677LeufsTer?) c.1236del (p.Ile413LeufsTer?) | gnomAD v4 |
| 8 | g.60838213C>A | CA460847239 | CHD7 | c.4491C>A (p.Thr1497=) c.1717-24016C>A (n.1717-24016C>A) c.2478C>A (p.Thr826=) c.2028C>A (p.Thr676=) c.1236C>A (p.Thr412=) | |
| 8 | g.60838213C= | CA1788116291 | CHD7 | c.4491C= (p.Thr1497=) c.1717-24016C= (n.1717-24016C=) c.2478C= (p.Thr826=) c.2028C= (p.Thr676=) c.1236C= (p.Thr412=) | |
| 8 | g.60838213C>G | CA460847240 | CHD7 | c.4491C>G (p.Thr1497=) c.1717-24016C>G (n.1717-24016C>G) c.2478C>G (p.Thr826=) c.2028C>G (p.Thr676=) c.1236C>G (p.Thr412=) | gnomAD v4 |
| 8 | g.60838213C>T | CA460847241 | CHD7 | c.4491C>T (p.Thr1497=) c.1717-24016C>T (n.1717-24016C>T) c.2478C>T (p.Thr826=) c.2028C>T (p.Thr676=) c.1236C>T (p.Thr412=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60838215_60838228del | CA2695209715 | CHD7 | c.4493_4506del (p.Ile1498ArgfsTer9) c.1717-24014_1717-24001del (n.1717-24014_1717-24001del) c.2480_2493del (p.Ile827ArgfsTer9) c.2030_2043del (p.Ile677ArgfsTer9) c.1238_1251del (p.Ile413ArgfsTer9) | |
| 8 | g.60838214A= | CA1788116295 | CHD7 | c.4492A= (p.Ile1498=) c.1717-24015A= (n.1717-24015A=) c.2479A= (p.Ile827=) c.2029A= (p.Ile677=) c.1237A= (p.Ile413=) | |
| 8 | g.60838214A>C | CA4760129 | CHD7 | c.4492A>C (p.Ile1498Leu) c.1717-24015A>C (n.1717-24015A>C) c.2479A>C (p.Ile827Leu) c.2029A>C (p.Ile677Leu) c.1237A>C (p.Ile413Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60838214A>G | CA371318354 | CHD7 | c.4492A>G (p.Ile1498Val) c.1717-24015A>G (n.1717-24015A>G) c.2479A>G (p.Ile827Val) c.2029A>G (p.Ile677Val) c.1237A>G (p.Ile413Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60838214A>T | CA371318353 | CHD7 | c.4492A>T (p.Ile1498Phe) c.1717-24015A>T (n.1717-24015A>T) c.2479A>T (p.Ile827Phe) c.2029A>T (p.Ile677Phe) c.1237A>T (p.Ile413Phe) | gnomAD v4 |
| 8 | g.60838215T>A | CA371318355 | CHD7 | c.4493T>A (p.Ile1498Asn) c.1717-24014T>A (n.1717-24014T>A) c.2480T>A (p.Ile827Asn) c.2030T>A (p.Ile677Asn) c.1238T>A (p.Ile413Asn) | |
| 8 | g.60838215T>C | CA371318356 | CHD7 | c.4493T>C (p.Ile1498Thr) c.1717-24014T>C (n.1717-24014T>C) c.2480T>C (p.Ile827Thr) c.2030T>C (p.Ile677Thr) c.1238T>C (p.Ile413Thr) | |
| 8 | g.60838215T>G | CA371318357 | CHD7 | c.4493T>G (p.Ile1498Ser) c.1717-24014T>G (n.1717-24014T>G) c.2480T>G (p.Ile827Ser) c.2030T>G (p.Ile677Ser) c.1238T>G (p.Ile413Ser) | |
| 8 | g.60838216dup | CA891843136 | CHD7 | c.4494dup (p.Thr1499TyrfsTer3) c.1717-24013dup (n.1717-24013dup) c.2481dup (p.Thr828TyrfsTer3) c.2031dup (p.Thr678TyrfsTer3) c.1239dup (p.Thr414TyrfsTer3) | ClinVar dbSNP |
| 8 | g.60838216T>A | CA460847242 | CHD7 | c.4494T>A (p.Ile1498=) c.1717-24013T>A (n.1717-24013T>A) c.2481T>A (p.Ile827=) c.2031T>A (p.Ile677=) c.1239T>A (p.Ile413=) | |
| 8 | g.60838216T>C | CA460847243 | CHD7 | c.4494T>C (p.Ile1498=) c.1717-24013T>C (n.1717-24013T>C) c.2481T>C (p.Ile827=) c.2031T>C (p.Ile677=) c.1239T>C (p.Ile413=) | |
| 8 | g.60838216T>G | CA371318358 | CHD7 | c.4494T>G (p.Ile1498Met) c.1717-24013T>G (n.1717-24013T>G) c.2481T>G (p.Ile827Met) c.2031T>G (p.Ile677Met) c.1239T>G (p.Ile413Met) | |
| 8 | g.60838217A>C | CA371318359 | CHD7 | c.4495A>C (p.Thr1499Pro) c.1717-24012A>C (n.1717-24012A>C) c.2482A>C (p.Thr828Pro) c.2032A>C (p.Thr678Pro) c.1240A>C (p.Thr414Pro) | |
| 8 | g.60838217A>G | CA371318360 | CHD7 | c.4495A>G (p.Thr1499Ala) c.1717-24012A>G (n.1717-24012A>G) c.2482A>G (p.Thr828Ala) c.2032A>G (p.Thr678Ala) c.1240A>G (p.Thr414Ala) | |
| 8 | g.60838217A>T | CA371318361 | CHD7 | c.4495A>T (p.Thr1499Ser) c.1717-24012A>T (n.1717-24012A>T) c.2482A>T (p.Thr828Ser) c.2032A>T (p.Thr678Ser) c.1240A>T (p.Thr414Ser) | |
| 8 | g.60838218C>A | CA371318362 | CHD7 | c.4496C>A (p.Thr1499Asn) c.1717-24011C>A (n.1717-24011C>A) c.2483C>A (p.Thr828Asn) c.2033C>A (p.Thr678Asn) c.1241C>A (p.Thr414Asn) | gnomAD v4 |
| 8 | g.60838218C= | CA1788116302 | CHD7 | c.4496C= (p.Thr1499=) c.1717-24011C= (n.1717-24011C=) c.2483C= (p.Thr828=) c.2033C= (p.Thr678=) c.1241C= (p.Thr414=) | |
| 8 | g.60838218C>G | CA371318363 | CHD7 | c.4496C>G (p.Thr1499Ser) c.1717-24011C>G (n.1717-24011C>G) c.2483C>G (p.Thr828Ser) c.2033C>G (p.Thr678Ser) c.1241C>G (p.Thr414Ser) | |
| 8 | g.60838218C>T | CA371318364 | CHD7 | c.4496C>T (p.Thr1499Ile) c.1717-24011C>T (n.1717-24011C>T) c.2483C>T (p.Thr828Ile) c.2033C>T (p.Thr678Ile) c.1241C>T (p.Thr414Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60838219C>A | CA460847244 | CHD7 | c.4497C>A (p.Thr1499=) c.1717-24010C>A (n.1717-24010C>A) c.2484C>A (p.Thr828=) c.2034C>A (p.Thr678=) c.1242C>A (p.Thr414=) | gnomAD v4 |
| 8 | g.60838219C>G | CA460847245 | CHD7 | c.4497C>G (p.Thr1499=) c.1717-24010C>G (n.1717-24010C>G) c.2484C>G (p.Thr828=) c.2034C>G (p.Thr678=) c.1242C>G (p.Thr414=) | |
| 8 | g.60838219C>T | CA460847246 | CHD7 | c.4497C>T (p.Thr1499=) c.1717-24010C>T (n.1717-24010C>T) c.2484C>T (p.Thr828=) c.2034C>T (p.Thr678=) c.1242C>T (p.Thr414=) | |
| 8 | g.60838220A>C | CA371318365 | CHD7 | c.4498A>C (p.Ile1500Leu) c.1717-24009A>C (n.1717-24009A>C) c.2485A>C (p.Ile829Leu) c.2035A>C (p.Ile679Leu) c.1243A>C (p.Ile415Leu) | |
| 8 | g.60838220A>G | CA371318366 | CHD7 | c.4498A>G (p.Ile1500Val) c.1717-24009A>G (n.1717-24009A>G) c.2485A>G (p.Ile829Val) c.2035A>G (p.Ile679Val) c.1243A>G (p.Ile415Val) | gnomAD v4 |
| 8 | g.60838220A>T | CA371318367 | CHD7 | c.4498A>T (p.Ile1500Phe) c.1717-24009A>T (n.1717-24009A>T) c.2485A>T (p.Ile829Phe) c.2035A>T (p.Ile679Phe) c.1243A>T (p.Ile415Phe) | |
| 8 | g.60838221T>A | CA371318369 | CHD7 | c.4499T>A (p.Ile1500Asn) c.1717-24008T>A (n.1717-24008T>A) c.2486T>A (p.Ile829Asn) c.2036T>A (p.Ile679Asn) c.1244T>A (p.Ile415Asn) | gnomAD v4 |
| 8 | g.60838221T>C | CA371318370 | CHD7 | c.4499T>C (p.Ile1500Thr) c.1717-24008T>C (n.1717-24008T>C) c.2486T>C (p.Ile829Thr) c.2036T>C (p.Ile679Thr) c.1244T>C (p.Ile415Thr) | |
| 8 | g.60838221T>G | CA371318368 | CHD7 | c.4499T>G (p.Ile1500Ser) c.1717-24008T>G (n.1717-24008T>G) c.2486T>G (p.Ile829Ser) c.2036T>G (p.Ile679Ser) c.1244T>G (p.Ile415Ser) | |
| 8 | g.60838222T>A | CA460847247 | CHD7 | c.4500T>A (p.Ile1500=) c.1717-24007T>A (n.1717-24007T>A) c.2487T>A (p.Ile829=) c.2037T>A (p.Ile679=) c.1245T>A (p.Ile415=) | |
| 8 | g.60838222T>C | CA460847248 | CHD7 | c.4500T>C (p.Ile1500=) c.1717-24007T>C (n.1717-24007T>C) c.2487T>C (p.Ile829=) c.2037T>C (p.Ile679=) c.1245T>C (p.Ile415=) | |
| 8 | g.60838222T>G | CA371318371 | CHD7 | c.4500T>G (p.Ile1500Met) c.1717-24007T>G (n.1717-24007T>G) c.2487T>G (p.Ile829Met) c.2037T>G (p.Ile679Met) c.1245T>G (p.Ile415Met) | |
| 8 | g.60838223G>A | CA371318372 | CHD7 | c.4501G>A (p.Glu1501Lys) c.1717-24006G>A (n.1717-24006G>A) c.2488G>A (p.Glu830Lys) c.2038G>A (p.Glu680Lys) c.1246G>A (p.Glu416Lys) | gnomAD v4 |
| 8 | g.60838223G>C | CA371318374 | CHD7 | c.4501G>C (p.Glu1501Gln) c.1717-24006G>C (n.1717-24006G>C) c.2488G>C (p.Glu830Gln) c.2038G>C (p.Glu680Gln) c.1246G>C (p.Glu416Gln) | |
| 8 | g.60838223G>T | CA371318373 | CHD7 | c.4501G>T (p.Glu1501Ter) c.1717-24006G>T (n.1717-24006G>T) c.2488G>T (p.Glu830Ter) c.2038G>T (p.Glu680Ter) c.1246G>T (p.Glu416Ter) | |
| 8 | g.60838224A>C | CA371318375 | CHD7 | c.4502A>C (p.Glu1501Ala) c.1717-24005A>C (n.1717-24005A>C) c.2489A>C (p.Glu830Ala) c.2039A>C (p.Glu680Ala) c.1247A>C (p.Glu416Ala) | |
| 8 | g.60838224A>G | CA371318376 | CHD7 | c.4502A>G (p.Glu1501Gly) c.1717-24005A>G (n.1717-24005A>G) c.2489A>G (p.Glu830Gly) c.2039A>G (p.Glu680Gly) c.1247A>G (p.Glu416Gly) | |
| 8 | g.60838224A>T | CA371318377 | CHD7 | c.4502A>T (p.Glu1501Val) c.1717-24005A>T (n.1717-24005A>T) c.2489A>T (p.Glu830Val) c.2039A>T (p.Glu680Val) c.1247A>T (p.Glu416Val) | |
| 8 | g.60838225G>A | CA460847249 | CHD7 | c.4503G>A (p.Glu1501=) c.1717-24004G>A (n.1717-24004G>A) c.2490G>A (p.Glu830=) c.2040G>A (p.Glu680=) c.1248G>A (p.Glu416=) | gnomAD v4 |
| 8 | g.60838225G>C | CA371318378 | CHD7 | c.4503G>C (p.Glu1501Asp) c.1717-24004G>C (n.1717-24004G>C) c.2490G>C (p.Glu830Asp) c.2040G>C (p.Glu680Asp) c.1248G>C (p.Glu416Asp) | |
| 8 | g.60838225G= | CA1788116306 | CHD7 | c.4503G= (p.Glu1501=) c.1717-24004G= (n.1717-24004G=) c.2490G= (p.Glu830=) c.2040G= (p.Glu680=) c.1248G= (p.Glu416=) | |
| 8 | g.60838225G>T | CA371318379 | CHD7 | c.4503G>T (p.Glu1501Asp) c.1717-24004G>T (n.1717-24004G>T) c.2490G>T (p.Glu830Asp) c.2040G>T (p.Glu680Asp) c.1248G>T (p.Glu416Asp) | dbSNP |
| 8 | g.60838226T>A | CA371318382 | CHD7 | c.4504T>A (p.Ser1502Thr) c.1717-24003T>A (n.1717-24003T>A) c.2491T>A (p.Ser831Thr) c.2041T>A (p.Ser681Thr) c.1249T>A (p.Ser417Thr) | |
| 8 | g.60838226T>C | CA371318381 | CHD7 | c.4504T>C (p.Ser1502Pro) c.1717-24003T>C (n.1717-24003T>C) c.2491T>C (p.Ser831Pro) c.2041T>C (p.Ser681Pro) c.1249T>C (p.Ser417Pro) | |
| 8 | g.60838226T>G | CA371318380 | CHD7 | c.4504T>G (p.Ser1502Ala) c.1717-24003T>G (n.1717-24003T>G) c.2491T>G (p.Ser831Ala) c.2041T>G (p.Ser681Ala) c.1249T>G (p.Ser417Ala) | |
| 8 | g.60838227C>A | CA371318383 | CHD7 | c.4505C>A (p.Ser1502Ter) c.1717-24002C>A (n.1717-24002C>A) c.2492C>A (p.Ser831Ter) c.2042C>A (p.Ser681Ter) c.1250C>A (p.Ser417Ter) | gnomAD v4 |
| 8 | g.60838227C= | CA1788116307 | CHD7 | c.4505C= (p.Ser1502=) c.1717-24002C= (n.1717-24002C=) c.2492C= (p.Ser831=) c.2042C= (p.Ser681=) c.1250C= (p.Ser417=) | |
| 8 | g.60838227C>G | CA371318384 | CHD7 | c.4505C>G (p.Ser1502Ter) c.1717-24002C>G (n.1717-24002C>G) c.2492C>G (p.Ser831Ter) c.2042C>G (p.Ser681Ter) c.1250C>G (p.Ser417Ter) | |
| 8 | g.60838227C>T | CA371318385 | CHD7 | c.4505C>T (p.Ser1502Leu) c.1717-24002C>T (n.1717-24002C>T) c.2492C>T (p.Ser831Leu) c.2042C>T (p.Ser681Leu) c.1250C>T (p.Ser417Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60838228A= | CA1788116310 | CHD7 | c.4506A= (p.Ser1502=) c.1717-24001A= (n.1717-24001A=) c.2493A= (p.Ser831=) c.2043A= (p.Ser681=) c.1251A= (p.Ser417=) | |
| 8 | g.60838228A>C | CA460847250 | CHD7 | c.4506A>C (p.Ser1502=) c.1717-24001A>C (n.1717-24001A>C) c.2493A>C (p.Ser831=) c.2043A>C (p.Ser681=) c.1251A>C (p.Ser417=) | |
| 8 | g.60838228A>G | CA460847251 | CHD7 | c.4506A>G (p.Ser1502=) c.1717-24001A>G (n.1717-24001A>G) c.2493A>G (p.Ser831=) c.2043A>G (p.Ser681=) c.1251A>G (p.Ser417=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60838228A>T | CA460847252 | CHD7 | c.4506A>T (p.Ser1502=) c.1717-24001A>T (n.1717-24001A>T) c.2493A>T (p.Ser831=) c.2043A>T (p.Ser681=) c.1251A>T (p.Ser417=) | |
| 8 | g.60838229G>A | CA371318386 | CHD7 | c.4507G>A (p.Glu1503Lys) c.1717-24000G>A (n.1717-24000G>A) c.2494G>A (p.Glu832Lys) c.2044G>A (p.Glu682Lys) c.1252G>A (p.Glu418Lys) | |
| 8 | g.60838229G>C | CA371318387 | CHD7 | c.4507G>C (p.Glu1503Gln) c.1717-24000G>C (n.1717-24000G>C) c.2494G>C (p.Glu832Gln) c.2044G>C (p.Glu682Gln) c.1252G>C (p.Glu418Gln) | |
| 8 | g.60838229G= | CA1788116319 | CHD7 | c.4507G= (p.Glu1503=) c.1717-24000G= (n.1717-24000G=) c.2494G= (p.Glu832=) c.2044G= (p.Glu682=) c.1252G= (p.Glu418=) | |
| 8 | g.60838229G>T | CA16618670 | CHD7 | c.4507G>T (p.Glu1503Ter) c.1717-24000G>T (n.1717-24000G>T) c.2494G>T (p.Glu832Ter) c.2044G>T (p.Glu682Ter) c.1252G>T (p.Glu418Ter) | ClinVar dbSNP gnomAD v4 |