| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60853047G>A | CA252062 | CHD7 | c.6322G>A (p.Gly2108Arg) c.1717-9182G>A (n.1717-9182G>A) c.6412G>A (p.Gly2138Arg) c.4399G>A (p.Gly1467Arg) c.3949G>A (p.Gly1317Arg) c.3157G>A (p.Gly1053Arg) | ClinVar dbSNP |
| 8 | g.60853047G>C | CA371324788 | CHD7 | c.6322G>C (p.Gly2108Arg) c.1717-9182G>C (n.1717-9182G>C) c.6412G>C (p.Gly2138Arg) c.4399G>C (p.Gly1467Arg) c.3949G>C (p.Gly1317Arg) c.3157G>C (p.Gly1053Arg) | |
| 8 | g.60853047G= | CA1788103472 | CHD7 | c.6322G= (p.Gly2108=) c.1717-9182G= (n.1717-9182G=) c.6412G= (p.Gly2138=) c.4399G= (p.Gly1467=) c.3949G= (p.Gly1317=) c.3157G= (p.Gly1053=) | |
| 8 | g.60853047G>T | CA371324787 | CHD7 | c.6322G>T (p.Gly2108Trp) c.1717-9182G>T (n.1717-9182G>T) c.6412G>T (p.Gly2138Trp) c.4399G>T (p.Gly1467Trp) c.3949G>T (p.Gly1317Trp) c.3157G>T (p.Gly1053Trp) | |
| 8 | g.60853048G>A | CA371324790 | CHD7 | c.6323G>A (p.Gly2108Glu) c.1717-9181G>A (n.1717-9181G>A) c.6413G>A (p.Gly2138Glu) c.4400G>A (p.Gly1467Glu) c.3950G>A (p.Gly1317Glu) c.3158G>A (p.Gly1053Glu) | ClinVar |
| 8 | g.60853048G>C | CA371324789 | CHD7 | c.6323G>C (p.Gly2108Ala) c.1717-9181G>C (n.1717-9181G>C) c.6413G>C (p.Gly2138Ala) c.4400G>C (p.Gly1467Ala) c.3950G>C (p.Gly1317Ala) c.3158G>C (p.Gly1053Ala) | |
| 8 | g.60853048G>T | CA371324791 | CHD7 | c.6323G>T (p.Gly2108Val) c.1717-9181G>T (n.1717-9181G>T) c.6413G>T (p.Gly2138Val) c.4400G>T (p.Gly1467Val) c.3950G>T (p.Gly1317Val) c.3158G>T (p.Gly1053Val) | |
| 8 | g.60853049G>A | CA461105227 | CHD7 | c.6324G>A (p.Gly2108=) c.1717-9180G>A (n.1717-9180G>A) c.6414G>A (p.Gly2138=) c.4401G>A (p.Gly1467=) c.3951G>A (p.Gly1317=) c.3159G>A (p.Gly1053=) | |
| 8 | g.60853049G>C | CA461105228 | CHD7 | c.6324G>C (p.Gly2108=) c.1717-9180G>C (n.1717-9180G>C) c.6414G>C (p.Gly2138=) c.4401G>C (p.Gly1467=) c.3951G>C (p.Gly1317=) c.3159G>C (p.Gly1053=) | |
| 8 | g.60853049G= | CA1788103479 | CHD7 | c.6324G= (p.Gly2108=) c.1717-9180G= (n.1717-9180G=) c.6414G= (p.Gly2138=) c.4401G= (p.Gly1467=) c.3951G= (p.Gly1317=) c.3159G= (p.Gly1053=) | |
| 8 | g.60853049G>T | CA4760572 | CHD7 | c.6324G>T (p.Gly2108=) c.1717-9180G>T (n.1717-9180G>T) c.6414G>T (p.Gly2138=) c.4401G>T (p.Gly1467=) c.3951G>T (p.Gly1317=) c.3159G>T (p.Gly1053=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853050G>A | CA371324794 | CHD7 | c.6325G>A (p.Val2109Ile) c.1717-9179G>A (n.1717-9179G>A) c.6415G>A (p.Val2139Ile) c.4402G>A (p.Val1468Ile) c.3952G>A (p.Val1318Ile) c.3160G>A (p.Val1054Ile) | dbSNP |
| 8 | g.60853050G>C | CA371324795 | CHD7 | c.6325G>C (p.Val2109Leu) c.1717-9179G>C (n.1717-9179G>C) c.6415G>C (p.Val2139Leu) c.4402G>C (p.Val1468Leu) c.3952G>C (p.Val1318Leu) c.3160G>C (p.Val1054Leu) | |
| 8 | g.60853050G= | CA1788103488 | CHD7 | c.6325G= (p.Val2109=) c.1717-9179G= (n.1717-9179G=) c.6415G= (p.Val2139=) c.4402G= (p.Val1468=) c.3952G= (p.Val1318=) c.3160G= (p.Val1054=) | |
| 8 | g.60853050G>T | CA371324797 | CHD7 | c.6325G>T (p.Val2109Phe) c.1717-9179G>T (n.1717-9179G>T) c.6415G>T (p.Val2139Phe) c.4402G>T (p.Val1468Phe) c.3952G>T (p.Val1318Phe) c.3160G>T (p.Val1054Phe) | ClinVar |
| 8 | g.60853051del | CA2695209418 | CHD7 | c.6326del (p.Val2109AlafsTer?) c.1717-9178del (n.1717-9178del) c.6416del (p.Val2139AlafsTer?) c.4403del (p.Val1468AlafsTer?) c.3953del (p.Val1318AlafsTer?) c.3161del (p.Val1054AlafsTer?) | |
| 8 | g.60853051T>A | CA371324798 | CHD7 | c.6326T>A (p.Val2109Asp) c.1717-9178T>A (n.1717-9178T>A) c.6416T>A (p.Val2139Asp) c.4403T>A (p.Val1468Asp) c.3953T>A (p.Val1318Asp) c.3161T>A (p.Val1054Asp) | |
| 8 | g.60853051T>C | CA371324799 | CHD7 | c.6326T>C (p.Val2109Ala) c.1717-9178T>C (n.1717-9178T>C) c.6416T>C (p.Val2139Ala) c.4403T>C (p.Val1468Ala) c.3953T>C (p.Val1318Ala) c.3161T>C (p.Val1054Ala) | |
| 8 | g.60853051T>G | CA371324800 | CHD7 | c.6326T>G (p.Val2109Gly) c.1717-9178T>G (n.1717-9178T>G) c.6416T>G (p.Val2139Gly) c.4403T>G (p.Val1468Gly) c.3953T>G (p.Val1318Gly) c.3161T>G (p.Val1054Gly) | dbSNP |
| 8 | g.60853051T= | CA1788103492 | CHD7 | c.6326T= (p.Val2109=) c.1717-9178T= (n.1717-9178T=) c.6416T= (p.Val2139=) c.4403T= (p.Val1468=) c.3953T= (p.Val1318=) c.3161T= (p.Val1054=) | |
| 8 | g.60853052C>A | CA461105230 | CHD7 | c.6327C>A (p.Val2109=) c.1717-9177C>A (n.1717-9177C>A) c.6417C>A (p.Val2139=) c.4404C>A (p.Val1468=) c.3954C>A (p.Val1318=) c.3162C>A (p.Val1054=) | |
| 8 | g.60853052C>G | CA461105232 | CHD7 | c.6327C>G (p.Val2109=) c.1717-9177C>G (n.1717-9177C>G) c.6417C>G (p.Val2139=) c.4404C>G (p.Val1468=) c.3954C>G (p.Val1318=) c.3162C>G (p.Val1054=) | gnomAD v4 |
| 8 | g.60853052C>T | CA461105231 | CHD7 | c.6327C>T (p.Val2109=) c.1717-9177C>T (n.1717-9177C>T) c.6417C>T (p.Val2139=) c.4404C>T (p.Val1468=) c.3954C>T (p.Val1318=) c.3162C>T (p.Val1054=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853053A>C | CA371324802 | CHD7 | c.6328A>C (p.Ser2110Arg) c.1717-9176A>C (n.1717-9176A>C) c.6418A>C (p.Ser2140Arg) c.4405A>C (p.Ser1469Arg) c.3955A>C (p.Ser1319Arg) c.3163A>C (p.Ser1055Arg) | |
| 8 | g.60853053A>G | CA371324803 | CHD7 | c.6328A>G (p.Ser2110Gly) c.1717-9176A>G (n.1717-9176A>G) c.6418A>G (p.Ser2140Gly) c.4405A>G (p.Ser1469Gly) c.3955A>G (p.Ser1319Gly) c.3163A>G (p.Ser1055Gly) | |
| 8 | g.60853053A>T | CA371324805 | CHD7 | c.6328A>T (p.Ser2110Cys) c.1717-9176A>T (n.1717-9176A>T) c.6418A>T (p.Ser2140Cys) c.4405A>T (p.Ser1469Cys) c.3955A>T (p.Ser1319Cys) c.3163A>T (p.Ser1055Cys) | |
| 8 | g.60853054G>A | CA371324806 | CHD7 | c.6329G>A (p.Ser2110Asn) c.1717-9175G>A (n.1717-9175G>A) c.6419G>A (p.Ser2140Asn) c.4406G>A (p.Ser1469Asn) c.3956G>A (p.Ser1319Asn) c.3164G>A (p.Ser1055Asn) | |
| 8 | g.60853054G>C | CA371324807 | CHD7 | c.6329G>C (p.Ser2110Thr) c.1717-9175G>C (n.1717-9175G>C) c.6419G>C (p.Ser2140Thr) c.4406G>C (p.Ser1469Thr) c.3956G>C (p.Ser1319Thr) c.3164G>C (p.Ser1055Thr) | |
| 8 | g.60853054G>T | CA371324809 | CHD7 | c.6329G>T (p.Ser2110Ile) c.1717-9175G>T (n.1717-9175G>T) c.6419G>T (p.Ser2140Ile) c.4406G>T (p.Ser1469Ile) c.3956G>T (p.Ser1319Ile) c.3164G>T (p.Ser1055Ile) | gnomAD v4 |
| 8 | g.60853055T>A | CA371324812 | CHD7 | c.6330T>A (p.Ser2110Arg) c.1717-9174T>A (n.1717-9174T>A) c.6420T>A (p.Ser2140Arg) c.4407T>A (p.Ser1469Arg) c.3957T>A (p.Ser1319Arg) c.3165T>A (p.Ser1055Arg) | |
| 8 | g.60853055T>C | CA461105234 | CHD7 | c.6330T>C (p.Ser2110=) c.1717-9174T>C (n.1717-9174T>C) c.6420T>C (p.Ser2140=) c.4407T>C (p.Ser1469=) c.3957T>C (p.Ser1319=) c.3165T>C (p.Ser1055=) | |
| 8 | g.60853055T>G | CA371324810 | CHD7 | c.6330T>G (p.Ser2110Arg) c.1717-9174T>G (n.1717-9174T>G) c.6420T>G (p.Ser2140Arg) c.4407T>G (p.Ser1469Arg) c.3957T>G (p.Ser1319Arg) c.3165T>G (p.Ser1055Arg) | |
| 8 | g.60853056C>A | CA461105235 | CHD7 | c.6331C>A (p.Arg2111=) c.1717-9173C>A (n.1717-9173C>A) c.6421C>A (p.Arg2141=) c.4408C>A (p.Arg1470=) c.3958C>A (p.Arg1320=) c.3166C>A (p.Arg1056=) | |
| 8 | g.60853056C>G | CA371324813 | CHD7 | c.6331C>G (p.Arg2111Gly) c.1717-9173C>G (n.1717-9173C>G) c.6421C>G (p.Arg2141Gly) c.4408C>G (p.Arg1470Gly) c.3958C>G (p.Arg1320Gly) c.3166C>G (p.Arg1056Gly) | |
| 8 | g.60853056C>T | CA371324814 | CHD7 | c.6331C>T (p.Arg2111Trp) c.1717-9173C>T (n.1717-9173C>T) c.6421C>T (p.Arg2141Trp) c.4408C>T (p.Arg1470Trp) c.3958C>T (p.Arg1320Trp) c.3166C>T (p.Arg1056Trp) | ClinVar gnomAD v4 |
| 8 | g.60853057G>A | CA371324815 | CHD7 | c.6332G>A (p.Arg2111Gln) c.1717-9172G>A (n.1717-9172G>A) c.6422G>A (p.Arg2141Gln) c.4409G>A (p.Arg1470Gln) c.3959G>A (p.Arg1320Gln) c.3167G>A (p.Arg1056Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853057G>C | CA371324816 | CHD7 | c.6332G>C (p.Arg2111Pro) c.1717-9172G>C (n.1717-9172G>C) c.6422G>C (p.Arg2141Pro) c.4409G>C (p.Arg1470Pro) c.3959G>C (p.Arg1320Pro) c.3167G>C (p.Arg1056Pro) | |
| 8 | g.60853057G= | CA1788103498 | CHD7 | c.6332G= (p.Arg2111=) c.1717-9172G= (n.1717-9172G=) c.6422G= (p.Arg2141=) c.4409G= (p.Arg1470=) c.3959G= (p.Arg1320=) c.3167G= (p.Arg1056=) | |
| 8 | g.60853057G>T | CA371324817 | CHD7 | c.6332G>T (p.Arg2111Leu) c.1717-9172G>T (n.1717-9172G>T) c.6422G>T (p.Arg2141Leu) c.4409G>T (p.Arg1470Leu) c.3959G>T (p.Arg1320Leu) c.3167G>T (p.Arg1056Leu) | |
| 8 | g.60853058G>A | CA461105239 | CHD7 | c.6333G>A (p.Arg2111=) c.1717-9171G>A (n.1717-9171G>A) c.6423G>A (p.Arg2141=) c.4410G>A (p.Arg1470=) c.3960G>A (p.Arg1320=) c.3168G>A (p.Arg1056=) | ClinVar dbSNP |
| 8 | g.60853058G>C | CA461105240 | CHD7 | c.6333G>C (p.Arg2111=) c.1717-9171G>C (n.1717-9171G>C) c.6423G>C (p.Arg2141=) c.4410G>C (p.Arg1470=) c.3960G>C (p.Arg1320=) c.3168G>C (p.Arg1056=) | |
| 8 | g.60853058G= | CA1788103508 | CHD7 | c.6333G= (p.Arg2111=) c.1717-9171G= (n.1717-9171G=) c.6423G= (p.Arg2141=) c.4410G= (p.Arg1470=) c.3960G= (p.Arg1320=) c.3168G= (p.Arg1056=) | |
| 8 | g.60853058G>T | CA461105241 | CHD7 | c.6333G>T (p.Arg2111=) c.1717-9171G>T (n.1717-9171G>T) c.6423G>T (p.Arg2141=) c.4410G>T (p.Arg1470=) c.3960G>T (p.Arg1320=) c.3168G>T (p.Arg1056=) | |
| 8 | g.60853059A>C | CA371324819 | CHD7 | c.6334A>C (p.Thr2112Pro) c.1717-9170A>C (n.1717-9170A>C) c.6424A>C (p.Thr2142Pro) c.4411A>C (p.Thr1471Pro) c.3961A>C (p.Thr1321Pro) c.3169A>C (p.Thr1057Pro) | |
| 8 | g.60853059A>G | CA371324821 | CHD7 | c.6334A>G (p.Thr2112Ala) c.1717-9170A>G (n.1717-9170A>G) c.6424A>G (p.Thr2142Ala) c.4411A>G (p.Thr1471Ala) c.3961A>G (p.Thr1321Ala) c.3169A>G (p.Thr1057Ala) | |
| 8 | g.60853059A>T | CA371324822 | CHD7 | c.6334A>T (p.Thr2112Ser) c.1717-9170A>T (n.1717-9170A>T) c.6424A>T (p.Thr2142Ser) c.4411A>T (p.Thr1471Ser) c.3961A>T (p.Thr1321Ser) c.3169A>T (p.Thr1057Ser) | |
| 8 | g.60853060C>A | CA371324824 | CHD7 | c.6335C>A (p.Thr2112Lys) c.1717-9169C>A (n.1717-9169C>A) c.6425C>A (p.Thr2142Lys) c.4412C>A (p.Thr1471Lys) c.3962C>A (p.Thr1321Lys) c.3170C>A (p.Thr1057Lys) | |
| 8 | g.60853060C= | CA1788103513 | CHD7 | c.6335C= (p.Thr2112=) c.1717-9169C= (n.1717-9169C=) c.6425C= (p.Thr2142=) c.4412C= (p.Thr1471=) c.3962C= (p.Thr1321=) c.3170C= (p.Thr1057=) | |
| 8 | g.60853060C>G | CA371324826 | CHD7 | c.6335C>G (p.Thr2112Arg) c.1717-9169C>G (n.1717-9169C>G) c.6425C>G (p.Thr2142Arg) c.4412C>G (p.Thr1471Arg) c.3962C>G (p.Thr1321Arg) c.3170C>G (p.Thr1057Arg) | |
| 8 | g.60853060C>T | CA4760573 | CHD7 | c.6335C>T (p.Thr2112Met) c.1717-9169C>T (n.1717-9169C>T) c.6425C>T (p.Thr2142Met) c.4412C>T (p.Thr1471Met) c.3962C>T (p.Thr1321Met) c.3170C>T (p.Thr1057Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |