Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
8 | g.60853061G>A | CA461105246 | CHD7 | c.6336G>A (p.Thr2112=) c.1717-9168G>A (n.1717-9168G>A) c.6426G>A (p.Thr2142=) c.4413G>A (p.Thr1471=) c.3963G>A (p.Thr1321=) c.3171G>A (p.Thr1057=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853061G>C | CA4760574 | CHD7 | c.6336G>C (p.Thr2112=) c.1717-9168G>C (n.1717-9168G>C) c.6426G>C (p.Thr2142=) c.4413G>C (p.Thr1471=) c.3963G>C (p.Thr1321=) c.3171G>C (p.Thr1057=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853061G= | CA1788103543 | CHD7 | c.6336G= (p.Thr2112=) c.1717-9168G= (n.1717-9168G=) c.6426G= (p.Thr2142=) c.4413G= (p.Thr1471=) c.3963G= (p.Thr1321=) c.3171G= (p.Thr1057=) | |
8 | g.60853061G>T | CA461105247 | CHD7 | c.6336G>T (p.Thr2112=) c.1717-9168G>T (n.1717-9168G>T) c.6426G>T (p.Thr2142=) c.4413G>T (p.Thr1471=) c.3963G>T (p.Thr1321=) c.3171G>T (p.Thr1057=) | gnomAD v4 |
8 | g.60853062G>A | CA371324828 | CHD7 | c.6337G>A (p.Asp2113Asn) c.1717-9167G>A (n.1717-9167G>A) c.6427G>A (p.Asp2143Asn) c.4414G>A (p.Asp1472Asn) c.3964G>A (p.Asp1322Asn) c.3172G>A (p.Asp1058Asn) | |
8 | g.60853062G>C | CA371324829 | CHD7 | c.6337G>C (p.Asp2113His) c.1717-9167G>C (n.1717-9167G>C) c.6427G>C (p.Asp2143His) c.4414G>C (p.Asp1472His) c.3964G>C (p.Asp1322His) c.3172G>C (p.Asp1058His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60853062G= | CA1788103549 | CHD7 | c.6337G= (p.Asp2113=) c.1717-9167G= (n.1717-9167G=) c.6427G= (p.Asp2143=) c.4414G= (p.Asp1472=) c.3964G= (p.Asp1322=) c.3172G= (p.Asp1058=) | |
8 | g.60853062G>T | CA371324830 | CHD7 | c.6337G>T (p.Asp2113Tyr) c.1717-9167G>T (n.1717-9167G>T) c.6427G>T (p.Asp2143Tyr) c.4414G>T (p.Asp1472Tyr) c.3964G>T (p.Asp1322Tyr) c.3172G>T (p.Asp1058Tyr) | gnomAD v4 |
8 | g.60853063A>C | CA371324831 | CHD7 | c.6338A>C (p.Asp2113Ala) c.1717-9166A>C (n.1717-9166A>C) c.6428A>C (p.Asp2143Ala) c.4415A>C (p.Asp1472Ala) c.3965A>C (p.Asp1322Ala) c.3173A>C (p.Asp1058Ala) | |
8 | g.60853063A>G | CA371324834 | CHD7 | c.6338A>G (p.Asp2113Gly) c.1717-9166A>G (n.1717-9166A>G) c.6428A>G (p.Asp2143Gly) c.4415A>G (p.Asp1472Gly) c.3965A>G (p.Asp1322Gly) c.3173A>G (p.Asp1058Gly) | |
8 | g.60853063A>T | CA371324832 | CHD7 | c.6338A>T (p.Asp2113Val) c.1717-9166A>T (n.1717-9166A>T) c.6428A>T (p.Asp2143Val) c.4415A>T (p.Asp1472Val) c.3965A>T (p.Asp1322Val) c.3173A>T (p.Asp1058Val) | |
8 | g.60853064T>A | CA371324836 | CHD7 | c.6339T>A (p.Asp2113Glu) c.1717-9165T>A (n.1717-9165T>A) c.6429T>A (p.Asp2143Glu) c.4416T>A (p.Asp1472Glu) c.3966T>A (p.Asp1322Glu) c.3174T>A (p.Asp1058Glu) | |
8 | g.60853064T>C | CA461105250 | CHD7 | c.6339T>C (p.Asp2113=) c.1717-9165T>C (n.1717-9165T>C) c.6429T>C (p.Asp2143=) c.4416T>C (p.Asp1472=) c.3966T>C (p.Asp1322=) c.3174T>C (p.Asp1058=) | |
8 | g.60853064T>G | CA371324838 | CHD7 | c.6339T>G (p.Asp2113Glu) c.1717-9165T>G (n.1717-9165T>G) c.6429T>G (p.Asp2143Glu) c.4416T>G (p.Asp1472Glu) c.3966T>G (p.Asp1322Glu) c.3174T>G (p.Asp1058Glu) | |
8 | g.60853065T>A | CA371324839 | CHD7 | c.6340T>A (p.Tyr2114Asn) c.1717-9164T>A (n.1717-9164T>A) c.6430T>A (p.Tyr2144Asn) c.4417T>A (p.Tyr1473Asn) c.3967T>A (p.Tyr1323Asn) c.3175T>A (p.Tyr1059Asn) | |
8 | g.60853065T>C | CA371324840 | CHD7 | c.6340T>C (p.Tyr2114His) c.1717-9164T>C (n.1717-9164T>C) c.6430T>C (p.Tyr2144His) c.4417T>C (p.Tyr1473His) c.3967T>C (p.Tyr1323His) c.3175T>C (p.Tyr1059His) | |
8 | g.60853065T>G | CA371324841 | CHD7 | c.6340T>G (p.Tyr2114Asp) c.1717-9164T>G (n.1717-9164T>G) c.6430T>G (p.Tyr2144Asp) c.4417T>G (p.Tyr1473Asp) c.3967T>G (p.Tyr1323Asp) c.3175T>G (p.Tyr1059Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60853065T= | CA1788103561 | CHD7 | c.6340T= (p.Tyr2114=) c.1717-9164T= (n.1717-9164T=) c.6430T= (p.Tyr2144=) c.4417T= (p.Tyr1473=) c.3967T= (p.Tyr1323=) c.3175T= (p.Tyr1059=) | |
8 | g.60853066A>C | CA371324842 | CHD7 | c.6341A>C (p.Tyr2114Ser) c.1717-9163A>C (n.1717-9163A>C) c.6431A>C (p.Tyr2144Ser) c.4418A>C (p.Tyr1473Ser) c.3968A>C (p.Tyr1323Ser) c.3176A>C (p.Tyr1059Ser) | |
8 | g.60853066A>G | CA371324843 | CHD7 | c.6341A>G (p.Tyr2114Cys) c.1717-9163A>G (n.1717-9163A>G) c.6431A>G (p.Tyr2144Cys) c.4418A>G (p.Tyr1473Cys) c.3968A>G (p.Tyr1323Cys) c.3176A>G (p.Tyr1059Cys) | ClinVar gnomAD v4 |