Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60852852A>C | CA371324273 | CHD7 | c.6127A>C (p.Ile2043Leu) c.1717-9377A>C (n.1717-9377A>C) c.6217A>C (p.Ile2073Leu) c.4204A>C (p.Ile1402Leu) c.3754A>C (p.Ile1252Leu) c.2962A>C (p.Ile988Leu) | |
8 | g.60852852A>G | CA371324272 | CHD7 | c.6127A>G (p.Ile2043Val) c.1717-9377A>G (n.1717-9377A>G) c.6217A>G (p.Ile2073Val) c.4204A>G (p.Ile1402Val) c.3754A>G (p.Ile1252Val) c.2962A>G (p.Ile988Val) | gnomAD v4 |
8 | g.60852852A>T | CA371324270 | CHD7 | c.6127A>T (p.Ile2043Phe) c.1717-9377A>T (n.1717-9377A>T) c.6217A>T (p.Ile2073Phe) c.4204A>T (p.Ile1402Phe) c.3754A>T (p.Ile1252Phe) c.2962A>T (p.Ile988Phe) | |
8 | g.60852853T>A | CA371324275 | CHD7 | c.6128T>A (p.Ile2043Asn) c.1717-9376T>A (n.1717-9376T>A) c.6218T>A (p.Ile2073Asn) c.4205T>A (p.Ile1402Asn) c.3755T>A (p.Ile1252Asn) c.2963T>A (p.Ile988Asn) | |
8 | g.60852853T>C | CA371324276 | CHD7 | c.6128T>C (p.Ile2043Thr) c.1717-9376T>C (n.1717-9376T>C) c.6218T>C (p.Ile2073Thr) c.4205T>C (p.Ile1402Thr) c.3755T>C (p.Ile1252Thr) c.2963T>C (p.Ile988Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60852853T>G | CA371324277 | CHD7 | c.6128T>G (p.Ile2043Ser) c.1717-9376T>G (n.1717-9376T>G) c.6218T>G (p.Ile2073Ser) c.4205T>G (p.Ile1402Ser) c.3755T>G (p.Ile1252Ser) c.2963T>G (p.Ile988Ser) | |
8 | g.60852853T= | CA1788102443 | CHD7 | c.6128T= (p.Ile2043=) c.1717-9376T= (n.1717-9376T=) c.6218T= (p.Ile2073=) c.4205T= (p.Ile1402=) c.3755T= (p.Ile1252=) c.2963T= (p.Ile988=) | |
8 | g.60852854T>A | CA461104908 | CHD7 | c.6129T>A (p.Ile2043=) c.1717-9375T>A (n.1717-9375T>A) c.6219T>A (p.Ile2073=) c.4206T>A (p.Ile1402=) c.3756T>A (p.Ile1252=) c.2964T>A (p.Ile988=) | |
8 | g.60852854T>C | CA461104909 | CHD7 | c.6129T>C (p.Ile2043=) c.1717-9375T>C (n.1717-9375T>C) c.6219T>C (p.Ile2073=) c.4206T>C (p.Ile1402=) c.3756T>C (p.Ile1252=) c.2964T>C (p.Ile988=) | dbSNP |
8 | g.60852854T>G | CA371324279 | CHD7 | c.6129T>G (p.Ile2043Met) c.1717-9375T>G (n.1717-9375T>G) c.6219T>G (p.Ile2073Met) c.4206T>G (p.Ile1402Met) c.3756T>G (p.Ile1252Met) c.2964T>G (p.Ile988Met) | |
8 | g.60852854T= | CA1788102447 | CHD7 | c.6129T= (p.Ile2043=) c.1717-9375T= (n.1717-9375T=) c.6219T= (p.Ile2073=) c.4206T= (p.Ile1402=) c.3756T= (p.Ile1252=) c.2964T= (p.Ile988=) | |
8 | g.60852855G>A | CA371324280 | CHD7 | c.6130G>A (p.Glu2044Lys) c.1717-9374G>A (n.1717-9374G>A) c.6220G>A (p.Glu2074Lys) c.4207G>A (p.Glu1403Lys) c.3757G>A (p.Glu1253Lys) c.2965G>A (p.Glu989Lys) | |
8 | g.60852855G>C | CA371324282 | CHD7 | c.6130G>C (p.Glu2044Gln) c.1717-9374G>C (n.1717-9374G>C) c.6220G>C (p.Glu2074Gln) c.4207G>C (p.Glu1403Gln) c.3757G>C (p.Glu1253Gln) c.2965G>C (p.Glu989Gln) | dbSNP |
8 | g.60852855G= | CA1788102450 | CHD7 | c.6130G= (p.Glu2044=) c.1717-9374G= (n.1717-9374G=) c.6220G= (p.Glu2074=) c.4207G= (p.Glu1403=) c.3757G= (p.Glu1253=) c.2965G= (p.Glu989=) | |
8 | g.60852855G>T | CA371324283 | CHD7 | c.6130G>T (p.Glu2044Ter) c.1717-9374G>T (n.1717-9374G>T) c.6220G>T (p.Glu2074Ter) c.4207G>T (p.Glu1403Ter) c.3757G>T (p.Glu1253Ter) c.2965G>T (p.Glu989Ter) | |
8 | g.60852860_60852878dup | CA2695209407 | CHD7 | c.6135_6153dup (p.Ser2052AspfsTer14) c.1717-9369_1717-9351dup (n.1717-9369_1717-9351dup) c.6225_6243dup (p.Ser2082AspfsTer14) c.4212_4230dup (p.Ser1411AspfsTer14) c.3762_3780dup (p.Ser1261AspfsTer14) c.2970_2988dup (p.Ser997AspfsTer14) | |
8 | g.60852856A>C | CA371324285 | CHD7 | c.6131A>C (p.Glu2044Ala) c.1717-9373A>C (n.1717-9373A>C) c.6221A>C (p.Glu2074Ala) c.4208A>C (p.Glu1403Ala) c.3758A>C (p.Glu1253Ala) c.2966A>C (p.Glu989Ala) | |
8 | g.60852856A>G | CA371324286 | CHD7 | c.6131A>G (p.Glu2044Gly) c.1717-9373A>G (n.1717-9373A>G) c.6221A>G (p.Glu2074Gly) c.4208A>G (p.Glu1403Gly) c.3758A>G (p.Glu1253Gly) c.2966A>G (p.Glu989Gly) | |
8 | g.60852856A>T | CA371324287 | CHD7 | c.6131A>T (p.Glu2044Val) c.1717-9373A>T (n.1717-9373A>T) c.6221A>T (p.Glu2074Val) c.4208A>T (p.Glu1403Val) c.3758A>T (p.Glu1253Val) c.2966A>T (p.Glu989Val) | |
8 | g.60852857G>A | CA461104911 | CHD7 | c.6132G>A (p.Glu2044=) c.1717-9372G>A (n.1717-9372G>A) c.6222G>A (p.Glu2074=) c.4209G>A (p.Glu1403=) c.3759G>A (p.Glu1253=) c.2967G>A (p.Glu989=) | |
8 | g.60852857G>C | CA371324288 | CHD7 | c.6132G>C (p.Glu2044Asp) c.1717-9372G>C (n.1717-9372G>C) c.6222G>C (p.Glu2074Asp) c.4209G>C (p.Glu1403Asp) c.3759G>C (p.Glu1253Asp) c.2967G>C (p.Glu989Asp) | |
8 | g.60852857G>T | CA371324289 | CHD7 | c.6132G>T (p.Glu2044Asp) c.1717-9372G>T (n.1717-9372G>T) c.6222G>T (p.Glu2074Asp) c.4209G>T (p.Glu1403Asp) c.3759G>T (p.Glu1253Asp) c.2967G>T (p.Glu989Asp) | |
8 | g.60852858C>A | CA371324293 | CHD7 | c.6133C>A (p.Pro2045Thr) c.1717-9371C>A (n.1717-9371C>A) c.6223C>A (p.Pro2075Thr) c.4210C>A (p.Pro1404Thr) c.3760C>A (p.Pro1254Thr) c.2968C>A (p.Pro990Thr) | |
8 | g.60852858C>G | CA371324294 | CHD7 | c.6133C>G (p.Pro2045Ala) c.1717-9371C>G (n.1717-9371C>G) c.6223C>G (p.Pro2075Ala) c.4210C>G (p.Pro1404Ala) c.3760C>G (p.Pro1254Ala) c.2968C>G (p.Pro990Ala) | |
8 | g.60852858C>T | CA371324291 | CHD7 | c.6133C>T (p.Pro2045Ser) c.1717-9371C>T (n.1717-9371C>T) c.6223C>T (p.Pro2075Ser) c.4210C>T (p.Pro1404Ser) c.3760C>T (p.Pro1254Ser) c.2968C>T (p.Pro990Ser) | |
8 | g.60852859C>A | CA371324297 | CHD7 | c.6134C>A (p.Pro2045Gln) c.1717-9370C>A (n.1717-9370C>A) c.6224C>A (p.Pro2075Gln) c.4211C>A (p.Pro1404Gln) c.3761C>A (p.Pro1254Gln) c.2969C>A (p.Pro990Gln) | dbSNP |
8 | g.60852859C= | CA1788102454 | CHD7 | c.6134C= (p.Pro2045=) c.1717-9370C= (n.1717-9370C=) c.6224C= (p.Pro2075=) c.4211C= (p.Pro1404=) c.3761C= (p.Pro1254=) c.2969C= (p.Pro990=) | |
8 | g.60852859C>G | CA371324295 | CHD7 | c.6134C>G (p.Pro2045Arg) c.1717-9370C>G (n.1717-9370C>G) c.6224C>G (p.Pro2075Arg) c.4211C>G (p.Pro1404Arg) c.3761C>G (p.Pro1254Arg) c.2969C>G (p.Pro990Arg) | |
8 | g.60852859C>T | CA371324296 | CHD7 | c.6134C>T (p.Pro2045Leu) c.1717-9370C>T (n.1717-9370C>T) c.6224C>T (p.Pro2075Leu) c.4211C>T (p.Pro1404Leu) c.3761C>T (p.Pro1254Leu) c.2969C>T (p.Pro990Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60852860G>A | CA171756 | CHD7 | c.6135G>A (p.Pro2045=) c.1717-9369G>A (n.1717-9369G>A) c.6225G>A (p.Pro2075=) c.4212G>A (p.Pro1404=) c.3762G>A (p.Pro1254=) c.2970G>A (p.Pro990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60852860G>C | CA4760540 | CHD7 | c.6135G>C (p.Pro2045=) c.1717-9369G>C (n.1717-9369G>C) c.6225G>C (p.Pro2075=) c.4212G>C (p.Pro1404=) c.3762G>C (p.Pro1254=) c.2970G>C (p.Pro990=) | dbSNP ExAC gnomAD v2 |
8 | g.60852860G= | CA1788102470 | CHD7 | c.6135G= (p.Pro2045=) c.1717-9369G= (n.1717-9369G=) c.6225G= (p.Pro2075=) c.4212G= (p.Pro1404=) c.3762G= (p.Pro1254=) c.2970G= (p.Pro990=) | |
8 | g.60852860G>T | CA461104913 | CHD7 | c.6135G>T (p.Pro2045=) c.1717-9369G>T (n.1717-9369G>T) c.6225G>T (p.Pro2075=) c.4212G>T (p.Pro1404=) c.3762G>T (p.Pro1254=) c.2970G>T (p.Pro990=) | ClinVar dbSNP gnomAD v2 |
8 | g.60852861A>C | CA371324298 | CHD7 | c.6136A>C (p.Ile2046Leu) c.1717-9368A>C (n.1717-9368A>C) c.6226A>C (p.Ile2076Leu) c.4213A>C (p.Ile1405Leu) c.3763A>C (p.Ile1255Leu) c.2971A>C (p.Ile991Leu) | |
8 | g.60852861A>G | CA371324299 | CHD7 | c.6136A>G (p.Ile2046Val) c.1717-9368A>G (n.1717-9368A>G) c.6226A>G (p.Ile2076Val) c.4213A>G (p.Ile1405Val) c.3763A>G (p.Ile1255Val) c.2971A>G (p.Ile991Val) | |
8 | g.60852861A>T | CA371324300 | CHD7 | c.6136A>T (p.Ile2046Phe) c.1717-9368A>T (n.1717-9368A>T) c.6226A>T (p.Ile2076Phe) c.4213A>T (p.Ile1405Phe) c.3763A>T (p.Ile1255Phe) c.2971A>T (p.Ile991Phe) | |
8 | g.60852862T>A | CA371324301 | CHD7 | c.6137T>A (p.Ile2046Asn) c.1717-9367T>A (n.1717-9367T>A) c.6227T>A (p.Ile2076Asn) c.4214T>A (p.Ile1405Asn) c.3764T>A (p.Ile1255Asn) c.2972T>A (p.Ile991Asn) | |
8 | g.60852862T>C | CA371324302 | CHD7 | c.6137T>C (p.Ile2046Thr) c.1717-9367T>C (n.1717-9367T>C) c.6227T>C (p.Ile2076Thr) c.4214T>C (p.Ile1405Thr) c.3764T>C (p.Ile1255Thr) c.2972T>C (p.Ile991Thr) | |
8 | g.60852862T>G | CA371324303 | CHD7 | c.6137T>G (p.Ile2046Ser) c.1717-9367T>G (n.1717-9367T>G) c.6227T>G (p.Ile2076Ser) c.4214T>G (p.Ile1405Ser) c.3764T>G (p.Ile1255Ser) c.2972T>G (p.Ile991Ser) | |
8 | g.60852863C>A | CA461104915 | CHD7 | c.6138C>A (p.Ile2046=) c.1717-9366C>A (n.1717-9366C>A) c.6228C>A (p.Ile2076=) c.4215C>A (p.Ile1405=) c.3765C>A (p.Ile1255=) c.2973C>A (p.Ile991=) | |
8 | g.60852863C>G | CA371324304 | CHD7 | c.6138C>G (p.Ile2046Met) c.1717-9366C>G (n.1717-9366C>G) c.6228C>G (p.Ile2076Met) c.4215C>G (p.Ile1405Met) c.3765C>G (p.Ile1255Met) c.2973C>G (p.Ile991Met) | |
8 | g.60852863C>T | CA461104916 | CHD7 | c.6138C>T (p.Ile2046=) c.1717-9366C>T (n.1717-9366C>T) c.6228C>T (p.Ile2076=) c.4215C>T (p.Ile1405=) c.3765C>T (p.Ile1255=) c.2973C>T (p.Ile991=) | ClinVar dbSNP |
8 | g.60852864A= | CA1788102491 | CHD7 | c.6139A= (p.Thr2047=) c.1717-9365A= (n.1717-9365A=) c.6229A= (p.Thr2077=) c.4216A= (p.Thr1406=) c.3766A= (p.Thr1256=) c.2974A= (p.Thr992=) | |
8 | g.60852864A>C | CA371324305 | CHD7 | c.6139A>C (p.Thr2047Pro) c.1717-9365A>C (n.1717-9365A>C) c.6229A>C (p.Thr2077Pro) c.4216A>C (p.Thr1406Pro) c.3766A>C (p.Thr1256Pro) c.2974A>C (p.Thr992Pro) | |
8 | g.60852864A>G | CA371324306 | CHD7 | c.6139A>G (p.Thr2047Ala) c.1717-9365A>G (n.1717-9365A>G) c.6229A>G (p.Thr2077Ala) c.4216A>G (p.Thr1406Ala) c.3766A>G (p.Thr1256Ala) c.2974A>G (p.Thr992Ala) | |
8 | g.60852864A>T | CA4760541 | CHD7 | c.6139A>T (p.Thr2047Ser) c.1717-9365A>T (n.1717-9365A>T) c.6229A>T (p.Thr2077Ser) c.4216A>T (p.Thr1406Ser) c.3766A>T (p.Thr1256Ser) c.2974A>T (p.Thr992Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60852865C>A | CA371324309 | CHD7 | c.6140C>A (p.Thr2047Lys) c.1717-9364C>A (n.1717-9364C>A) c.6230C>A (p.Thr2077Lys) c.4217C>A (p.Thr1406Lys) c.3767C>A (p.Thr1256Lys) c.2975C>A (p.Thr992Lys) | |
8 | g.60852865C>G | CA371324307 | CHD7 | c.6140C>G (p.Thr2047Arg) c.1717-9364C>G (n.1717-9364C>G) c.6230C>G (p.Thr2077Arg) c.4217C>G (p.Thr1406Arg) c.3767C>G (p.Thr1256Arg) c.2975C>G (p.Thr992Arg) | gnomAD v4 |
8 | g.60852865C>T | CA371324308 | CHD7 | c.6140C>T (p.Thr2047Ile) c.1717-9364C>T (n.1717-9364C>T) c.6230C>T (p.Thr2077Ile) c.4217C>T (p.Thr1406Ile) c.3767C>T (p.Thr1256Ile) c.2975C>T (p.Thr992Ile) | |
8 | g.60852865_60852867delinsCAG | CA1788102498 | CHD7 | c.6140_6142delinsCAG (p.Thr2047=) c.1717-9364_1717-9362delinsCAG (n.1717-9364_1717-9362delinsCAG) c.6230_6232delinsCAG (p.Thr2077=) c.4217_4219delinsCAG (p.Thr1406=) c.3767_3769delinsCAG (p.Thr1256=) c.2975_2977delinsCAG (p.Thr992=) |