Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60853057G>ACA371324815CHD7c.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
8g.60853057G>CCA371324816CHD7c.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)
8g.60853057G=CA1788103498CHD7c.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=)
8g.60853057G>TCA371324817CHD7c.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)
8g.60853058G>ACA461105239CHD7c.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
8g.60853058G>CCA461105240CHD7c.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=)
8g.60853058G=CA1788103508CHD7c.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=)
8g.60853058G>TCA461105241CHD7c.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=)
8g.60853059A>CCA371324819CHD7c.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)
8g.60853059A>GCA371324821CHD7c.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)
8g.60853059A>TCA371324822CHD7c.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)
8g.60853060C>ACA371324824CHD7c.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)
8g.60853060C=CA1788103513CHD7c.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=)
8g.60853060C>GCA371324826CHD7c.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)
8g.60853060C>TCA4760573CHD7c.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
8g.60853061G>ACA461105246CHD7c.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
8g.60853061G>CCA4760574CHD7c.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
8g.60853061G=CA1788103543CHD7c.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=)
8g.60853061G>TCA461105247CHD7c.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
8g.60853062G>ACA371324828CHD7c.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)
8g.60853062G>CCA371324829CHD7c.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
8g.60853062G=CA1788103549CHD7c.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=)
8g.60853062G>TCA371324830CHD7c.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
8g.60853063A>CCA371324831CHD7c.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)
8g.60853063A>GCA371324834CHD7c.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)
8g.60853063A>TCA371324832CHD7c.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)
8g.60853064T>ACA371324836CHD7c.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)
8g.60853064T>CCA461105250CHD7c.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=)
8g.60853064T>GCA371324838CHD7c.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)
8g.60853065T>ACA371324839CHD7c.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)
8g.60853065T>CCA371324840CHD7c.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)
8g.60853065T>GCA371324841CHD7c.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
8g.60853065T=CA1788103561CHD7c.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=)
8g.60853066A>CCA371324842CHD7c.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)
8g.60853066A>GCA371324843CHD7c.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
8g.60853066A>TCA371324844CHD7c.6341A>T (p.Tyr2114Phe)
c.1717-9163A>T (n.1717-9163A>T)
c.6431A>T (p.Tyr2144Phe)
c.4418A>T (p.Tyr1473Phe)
c.3968A>T (p.Tyr1323Phe)
c.3176A>T (p.Tyr1059Phe)
8g.60853066_60853083dupCA1788103564CHD7c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp)
c.1717-9163_1717-9146dup (n.1717-9163_1717-9146dup)
c.6431_6448dup (p.Asp2149_Pro2150insHisHisIleLeuAsnAsp)
c.4418_4435dup (p.Asp1478_Pro1479insHisHisIleLeuAsnAsp)
c.3968_3985dup (p.Asp1328_Pro1329insHisHisIleLeuAsnAsp)
c.3176_3193dup (p.Asp1064_Pro1065insHisHisIleLeuAsnAsp)
 ClinVar dbSNP
8g.60853067T>ACA371324845CHD7c.6342T>A (p.Tyr2114Ter)
c.1717-9162T>A (n.1717-9162T>A)
c.6432T>A (p.Tyr2144Ter)
c.4419T>A (p.Tyr1473Ter)
c.3969T>A (p.Tyr1323Ter)
c.3177T>A (p.Tyr1059Ter)
8g.60853067T>CCA461105255CHD7c.6342T>C (p.Tyr2114=)
c.1717-9162T>C (n.1717-9162T>C)
c.6432T>C (p.Tyr2144=)
c.4419T>C (p.Tyr1473=)
c.3969T>C (p.Tyr1323=)
c.3177T>C (p.Tyr1059=)
8g.60853067T>GCA371324847CHD7c.6342T>G (p.Tyr2114Ter)
c.1717-9162T>G (n.1717-9162T>G)
c.6432T>G (p.Tyr2144Ter)
c.4419T>G (p.Tyr1473Ter)
c.3969T>G (p.Tyr1323Ter)
c.3177T>G (p.Tyr1059Ter)
8g.60853068C>ACA371324848CHD7c.6343C>A (p.His2115Asn)
c.1717-9161C>A (n.1717-9161C>A)
c.6433C>A (p.His2145Asn)
c.4420C>A (p.His1474Asn)
c.3970C>A (p.His1324Asn)
c.3178C>A (p.His1060Asn)
8g.60853068C=CA1788103567CHD7c.6343C= (p.His2115=)
c.1717-9161C= (n.1717-9161C=)
c.6433C= (p.His2145=)
c.4420C= (p.His1474=)
c.3970C= (p.His1324=)
c.3178C= (p.His1060=)
8g.60853068C>GCA371324850CHD7c.6343C>G (p.His2115Asp)
c.1717-9161C>G (n.1717-9161C>G)
c.6433C>G (p.His2145Asp)
c.4420C>G (p.His1474Asp)
c.3970C>G (p.His1324Asp)
c.3178C>G (p.His1060Asp)
8g.60853068C>TCA177354088CHD7c.6343C>T (p.His2115Tyr)
c.1717-9161C>T (n.1717-9161C>T)
c.6433C>T (p.His2145Tyr)
c.4420C>T (p.His1474Tyr)
c.3970C>T (p.His1324Tyr)
c.3178C>T (p.His1060Tyr)
 dbSNP
8g.60853069A>CCA371324853CHD7c.6344A>C (p.His2115Pro)
c.1717-9160A>C (n.1717-9160A>C)
c.6434A>C (p.His2145Pro)
c.4421A>C (p.His1474Pro)
c.3971A>C (p.His1324Pro)
c.3179A>C (p.His1060Pro)
8g.60853069A>GCA371324851CHD7c.6344A>G (p.His2115Arg)
c.1717-9160A>G (n.1717-9160A>G)
c.6434A>G (p.His2145Arg)
c.4421A>G (p.His1474Arg)
c.3971A>G (p.His1324Arg)
c.3179A>G (p.His1060Arg)
 gnomAD v4
8g.60853069A>TCA371324852CHD7c.6344A>T (p.His2115Leu)
c.1717-9160A>T (n.1717-9160A>T)
c.6434A>T (p.His2145Leu)
c.4421A>T (p.His1474Leu)
c.3971A>T (p.His1324Leu)
c.3179A>T (p.His1060Leu)
 gnomAD v4
8g.60853070C>ACA371324854CHD7c.6345C>A (p.His2115Gln)
c.1717-9159C>A (n.1717-9159C>A)
c.6435C>A (p.His2145Gln)
c.4422C>A (p.His1474Gln)
c.3972C>A (p.His1324Gln)
c.3180C>A (p.His1060Gln)
8g.60853070C=CA1788103572CHD7c.6345C= (p.His2115=)
c.1717-9159C= (n.1717-9159C=)
c.6435C= (p.His2145=)
c.4422C= (p.His1474=)
c.3972C= (p.His1324=)
c.3180C= (p.His1060=)
8g.60853070C>GCA371324855CHD7c.6345C>G (p.His2115Gln)
c.1717-9159C>G (n.1717-9159C>G)
c.6435C>G (p.His2145Gln)
c.4422C>G (p.His1474Gln)
c.3972C>G (p.His1324Gln)
c.3180C>G (p.His1060Gln)

Number of alleles fetched