UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852920C>A | CA461104996 | CHD7 | c.6195C>A (p.Arg2065=) c.1717-9309C>A (n.1717-9309C>A) c.6285C>A (p.Arg2095=) c.4272C>A (p.Arg1424=) c.3822C>A (p.Arg1274=) c.3030C>A (p.Arg1010=) | |
| 8 | g.60852920C= | CA1788102803 | CHD7 | c.6195C= (p.Arg2065=) c.1717-9309C= (n.1717-9309C=) c.6285C= (p.Arg2095=) c.4272C= (p.Arg1424=) c.3822C= (p.Arg1274=) c.3030C= (p.Arg1010=) | |
| 8 | g.60852920C>G | CA461104999 | CHD7 | c.6195C>G (p.Arg2065=) c.1717-9309C>G (n.1717-9309C>G) c.6285C>G (p.Arg2095=) c.4272C>G (p.Arg1424=) c.3822C>G (p.Arg1274=) c.3030C>G (p.Arg1010=) | |
| 8 | g.60852920C>T | CA4760547 | CHD7 | c.6195C>T (p.Arg2065=) c.1717-9309C>T (n.1717-9309C>T) c.6285C>T (p.Arg2095=) c.4272C>T (p.Arg1424=) c.3822C>T (p.Arg1274=) c.3030C>T (p.Arg1010=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852921G>A | CA371324416 | CHD7 | c.6196G>A (p.Glu2066Lys) c.1717-9308G>A (n.1717-9308G>A) c.6286G>A (p.Glu2096Lys) c.4273G>A (p.Glu1425Lys) c.3823G>A (p.Glu1275Lys) c.3031G>A (p.Glu1011Lys) | ClinVar gnomAD v4 |
| 8 | g.60852921G>C | CA4760548 | CHD7 | c.6196G>C (p.Glu2066Gln) c.1717-9308G>C (n.1717-9308G>C) c.6286G>C (p.Glu2096Gln) c.4273G>C (p.Glu1425Gln) c.3823G>C (p.Glu1275Gln) c.3031G>C (p.Glu1011Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852921G= | CA1788102814 | CHD7 | c.6196G= (p.Glu2066=) c.1717-9308G= (n.1717-9308G=) c.6286G= (p.Glu2096=) c.4273G= (p.Glu1425=) c.3823G= (p.Glu1275=) c.3031G= (p.Glu1011=) | |
| 8 | g.60852921G>T | CA371324417 | CHD7 | c.6196G>T (p.Glu2066Ter) c.1717-9308G>T (n.1717-9308G>T) c.6286G>T (p.Glu2096Ter) c.4273G>T (p.Glu1425Ter) c.3823G>T (p.Glu1275Ter) c.3031G>T (p.Glu1011Ter) | |
| 8 | g.60852922A= | CA1788102822 | CHD7 | c.6197A= (p.Glu2066=) c.1717-9307A= (n.1717-9307A=) c.6287A= (p.Glu2096=) c.4274A= (p.Glu1425=) c.3824A= (p.Glu1275=) c.3032A= (p.Glu1011=) | |
| 8 | g.60852922A>C | CA371324420 | CHD7 | c.6197A>C (p.Glu2066Ala) c.1717-9307A>C (n.1717-9307A>C) c.6287A>C (p.Glu2096Ala) c.4274A>C (p.Glu1425Ala) c.3824A>C (p.Glu1275Ala) c.3032A>C (p.Glu1011Ala) | |
| 8 | g.60852922A>G | CA371324418 | CHD7 | c.6197A>G (p.Glu2066Gly) c.1717-9307A>G (n.1717-9307A>G) c.6287A>G (p.Glu2096Gly) c.4274A>G (p.Glu1425Gly) c.3824A>G (p.Glu1275Gly) c.3032A>G (p.Glu1011Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852922A>T | CA371324419 | CHD7 | c.6197A>T (p.Glu2066Val) c.1717-9307A>T (n.1717-9307A>T) c.6287A>T (p.Glu2096Val) c.4274A>T (p.Glu1425Val) c.3824A>T (p.Glu1275Val) c.3032A>T (p.Glu1011Val) | |
| 8 | g.60852923G>A | CA461105001 | CHD7 | c.6198G>A (p.Glu2066=) c.1717-9306G>A (n.1717-9306G>A) c.6288G>A (p.Glu2096=) c.4275G>A (p.Glu1425=) c.3825G>A (p.Glu1275=) c.3033G>A (p.Glu1011=) | |
| 8 | g.60852923G>C | CA177354036 | CHD7 | c.6198G>C (p.Glu2066Asp) c.1717-9306G>C (n.1717-9306G>C) c.6288G>C (p.Glu2096Asp) c.4275G>C (p.Glu1425Asp) c.3825G>C (p.Glu1275Asp) c.3033G>C (p.Glu1011Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852923G= | CA1788102829 | CHD7 | c.6198G= (p.Glu2066=) c.1717-9306G= (n.1717-9306G=) c.6288G= (p.Glu2096=) c.4275G= (p.Glu1425=) c.3825G= (p.Glu1275=) c.3033G= (p.Glu1011=) | |
| 8 | g.60852923G>T | CA371324421 | CHD7 | c.6198G>T (p.Glu2066Asp) c.1717-9306G>T (n.1717-9306G>T) c.6288G>T (p.Glu2096Asp) c.4275G>T (p.Glu1425Asp) c.3825G>T (p.Glu1275Asp) c.3033G>T (p.Glu1011Asp) | |
| 8 | g.60852924C>A | CA371324422 | CHD7 | c.6199C>A (p.Gln2067Lys) c.1717-9305C>A (n.1717-9305C>A) c.6289C>A (p.Gln2097Lys) c.4276C>A (p.Gln1426Lys) c.3826C>A (p.Gln1276Lys) c.3034C>A (p.Gln1012Lys) | |
| 8 | g.60852924C= | CA1788102838 | CHD7 | c.6199C= (p.Gln2067=) c.1717-9305C= (n.1717-9305C=) c.6289C= (p.Gln2097=) c.4276C= (p.Gln1426=) c.3826C= (p.Gln1276=) c.3034C= (p.Gln1012=) | |
| 8 | g.60852924C>G | CA4760549 | CHD7 | c.6199C>G (p.Gln2067Glu) c.1717-9305C>G (n.1717-9305C>G) c.6289C>G (p.Gln2097Glu) c.4276C>G (p.Gln1426Glu) c.3826C>G (p.Gln1276Glu) c.3034C>G (p.Gln1012Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852924C>T | CA371324423 | CHD7 | c.6199C>T (p.Gln2067Ter) c.1717-9305C>T (n.1717-9305C>T) c.6289C>T (p.Gln2097Ter) c.4276C>T (p.Gln1426Ter) c.3826C>T (p.Gln1276Ter) c.3034C>T (p.Gln1012Ter) | ClinVar dbSNP |
| 8 | g.60852925A>C | CA371324424 | CHD7 | c.6200A>C (p.Gln2067Pro) c.1717-9304A>C (n.1717-9304A>C) c.6290A>C (p.Gln2097Pro) c.4277A>C (p.Gln1426Pro) c.3827A>C (p.Gln1276Pro) c.3035A>C (p.Gln1012Pro) | |
| 8 | g.60852925A>G | CA371324425 | CHD7 | c.6200A>G (p.Gln2067Arg) c.1717-9304A>G (n.1717-9304A>G) c.6290A>G (p.Gln2097Arg) c.4277A>G (p.Gln1426Arg) c.3827A>G (p.Gln1276Arg) c.3035A>G (p.Gln1012Arg) | |
| 8 | g.60852925A>T | CA371324426 | CHD7 | c.6200A>T (p.Gln2067Leu) c.1717-9304A>T (n.1717-9304A>T) c.6290A>T (p.Gln2097Leu) c.4277A>T (p.Gln1426Leu) c.3827A>T (p.Gln1276Leu) c.3035A>T (p.Gln1012Leu) | |
| 8 | g.60852926G>A | CA461105098 | CHD7 | c.6201G>A (p.Gln2067=) c.1717-9303G>A (n.1717-9303G>A) c.6291G>A (p.Gln2097=) c.4278G>A (p.Gln1426=) c.3828G>A (p.Gln1276=) c.3036G>A (p.Gln1012=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852926G>C | CA371324427 | CHD7 | c.6201G>C (p.Gln2067His) c.1717-9303G>C (n.1717-9303G>C) c.6291G>C (p.Gln2097His) c.4278G>C (p.Gln1426His) c.3828G>C (p.Gln1276His) c.3036G>C (p.Gln1012His) | |
| 8 | g.60852926G= | CA1788102841 | CHD7 | c.6201G= (p.Gln2067=) c.1717-9303G= (n.1717-9303G=) c.6291G= (p.Gln2097=) c.4278G= (p.Gln1426=) c.3828G= (p.Gln1276=) c.3036G= (p.Gln1012=) | |
| 8 | g.60852926G>T | CA371324428 | CHD7 | c.6201G>T (p.Gln2067His) c.1717-9303G>T (n.1717-9303G>T) c.6291G>T (p.Gln2097His) c.4278G>T (p.Gln1426His) c.3828G>T (p.Gln1276His) c.3036G>T (p.Gln1012His) | gnomAD v4 |
| 8 | g.60852927G>A | CA371324429 | CHD7 | c.6202G>A (p.Val2068Ile) c.1717-9302G>A (n.1717-9302G>A) c.6292G>A (p.Val2098Ile) c.4279G>A (p.Val1427Ile) c.3829G>A (p.Val1277Ile) c.3037G>A (p.Val1013Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852927G>C | CA371324430 | CHD7 | c.6202G>C (p.Val2068Leu) c.1717-9302G>C (n.1717-9302G>C) c.6292G>C (p.Val2098Leu) c.4279G>C (p.Val1427Leu) c.3829G>C (p.Val1277Leu) c.3037G>C (p.Val1013Leu) | gnomAD v4 |
| 8 | g.60852927G= | CA1788102848 | CHD7 | c.6202G= (p.Val2068=) c.1717-9302G= (n.1717-9302G=) c.6292G= (p.Val2098=) c.4279G= (p.Val1427=) c.3829G= (p.Val1277=) c.3037G= (p.Val1013=) | |
| 8 | g.60852927G>T | CA371324431 | CHD7 | c.6202G>T (p.Val2068Phe) c.1717-9302G>T (n.1717-9302G>T) c.6292G>T (p.Val2098Phe) c.4279G>T (p.Val1427Phe) c.3829G>T (p.Val1277Phe) c.3037G>T (p.Val1013Phe) | |
| 8 | g.60852928T>A | CA371324432 | CHD7 | c.6203T>A (p.Val2068Asp) c.1717-9301T>A (n.1717-9301T>A) c.6293T>A (p.Val2098Asp) c.4280T>A (p.Val1427Asp) c.3830T>A (p.Val1277Asp) c.3038T>A (p.Val1013Asp) | |
| 8 | g.60852928T>C | CA371324434 | CHD7 | c.6203T>C (p.Val2068Ala) c.1717-9301T>C (n.1717-9301T>C) c.6293T>C (p.Val2098Ala) c.4280T>C (p.Val1427Ala) c.3830T>C (p.Val1277Ala) c.3038T>C (p.Val1013Ala) | |
| 8 | g.60852928T>G | CA371324433 | CHD7 | c.6203T>G (p.Val2068Gly) c.1717-9301T>G (n.1717-9301T>G) c.6293T>G (p.Val2098Gly) c.4280T>G (p.Val1427Gly) c.3830T>G (p.Val1277Gly) c.3038T>G (p.Val1013Gly) | |
| 8 | g.60852929T>A | CA461105100 | CHD7 | c.6204T>A (p.Val2068=) c.1717-9300T>A (n.1717-9300T>A) c.6294T>A (p.Val2098=) c.4281T>A (p.Val1427=) c.3831T>A (p.Val1277=) c.3039T>A (p.Val1013=) | |
| 8 | g.60852929T>C | CA461105101 | CHD7 | c.6204T>C (p.Val2068=) c.1717-9300T>C (n.1717-9300T>C) c.6294T>C (p.Val2098=) c.4281T>C (p.Val1427=) c.3831T>C (p.Val1277=) c.3039T>C (p.Val1013=) | |
| 8 | g.60852929T>G | CA461105102 | CHD7 | c.6204T>G (p.Val2068=) c.1717-9300T>G (n.1717-9300T>G) c.6294T>G (p.Val2098=) c.4281T>G (p.Val1427=) c.3831T>G (p.Val1277=) c.3039T>G (p.Val1013=) | |
| 8 | g.60852930C>A | CA371324435 | CHD7 | c.6205C>A (p.Leu2069Ile) c.1717-9299C>A (n.1717-9299C>A) c.6295C>A (p.Leu2099Ile) c.4282C>A (p.Leu1428Ile) c.3832C>A (p.Leu1278Ile) c.3040C>A (p.Leu1014Ile) | gnomAD v4 |
| 8 | g.60852930C= | CA1788102861 | CHD7 | c.6205C= (p.Leu2069=) c.1717-9299C= (n.1717-9299C=) c.6295C= (p.Leu2099=) c.4282C= (p.Leu1428=) c.3832C= (p.Leu1278=) c.3040C= (p.Leu1014=) | |
| 8 | g.60852930C>G | CA4760550 | CHD7 | c.6205C>G (p.Leu2069Val) c.1717-9299C>G (n.1717-9299C>G) c.6295C>G (p.Leu2099Val) c.4282C>G (p.Leu1428Val) c.3832C>G (p.Leu1278Val) c.3040C>G (p.Leu1014Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852930C>T | CA371324436 | CHD7 | c.6205C>T (p.Leu2069Phe) c.1717-9299C>T (n.1717-9299C>T) c.6295C>T (p.Leu2099Phe) c.4282C>T (p.Leu1428Phe) c.3832C>T (p.Leu1278Phe) c.3040C>T (p.Leu1014Phe) | gnomAD v4 |
| 8 | g.60852931T>A | CA371324437 | CHD7 | c.6206T>A (p.Leu2069His) c.1717-9298T>A (n.1717-9298T>A) c.6296T>A (p.Leu2099His) c.4283T>A (p.Leu1428His) c.3833T>A (p.Leu1278His) c.3041T>A (p.Leu1014His) | |
| 8 | g.60852931T>C | CA371324438 | CHD7 | c.6206T>C (p.Leu2069Pro) c.1717-9298T>C (n.1717-9298T>C) c.6296T>C (p.Leu2099Pro) c.4283T>C (p.Leu1428Pro) c.3833T>C (p.Leu1278Pro) c.3041T>C (p.Leu1014Pro) | |
| 8 | g.60852931T>G | CA371324439 | CHD7 | c.6206T>G (p.Leu2069Arg) c.1717-9298T>G (n.1717-9298T>G) c.6296T>G (p.Leu2099Arg) c.4283T>G (p.Leu1428Arg) c.3833T>G (p.Leu1278Arg) c.3041T>G (p.Leu1014Arg) | |
| 8 | g.60852932C>A | CA461105106 | CHD7 | c.6207C>A (p.Leu2069=) c.1717-9297C>A (n.1717-9297C>A) c.6297C>A (p.Leu2099=) c.4284C>A (p.Leu1428=) c.3834C>A (p.Leu1278=) c.3042C>A (p.Leu1014=) | |
| 8 | g.60852932C= | CA1788102881 | CHD7 | c.6207C= (p.Leu2069=) c.1717-9297C= (n.1717-9297C=) c.6297C= (p.Leu2099=) c.4284C= (p.Leu1428=) c.3834C= (p.Leu1278=) c.3042C= (p.Leu1014=) | |
| 8 | g.60852932C>G | CA461105107 | CHD7 | c.6207C>G (p.Leu2069=) c.1717-9297C>G (n.1717-9297C>G) c.6297C>G (p.Leu2099=) c.4284C>G (p.Leu1428=) c.3834C>G (p.Leu1278=) c.3042C>G (p.Leu1014=) | |
| 8 | g.60852932C>T | CA4760551 | CHD7 | c.6207C>T (p.Leu2069=) c.1717-9297C>T (n.1717-9297C>T) c.6297C>T (p.Leu2099=) c.4284C>T (p.Leu1428=) c.3834C>T (p.Leu1278=) c.3042C>T (p.Leu1014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852933dup | CA2580078851 | CHD7 | c.6208dup (p.His2070ProfsTer10) c.1717-9296dup (n.1717-9296dup) c.6298dup (p.His2100ProfsTer10) c.4285dup (p.His1429ProfsTer10) c.3835dup (p.His1279ProfsTer10) c.3043dup (p.His1015ProfsTer10) | ClinVar |
| 8 | g.60852933C>A | CA371324440 | CHD7 | c.6208C>A (p.His2070Asn) c.1717-9296C>A (n.1717-9296C>A) c.6298C>A (p.His2100Asn) c.4285C>A (p.His1429Asn) c.3835C>A (p.His1279Asn) c.3043C>A (p.His1015Asn) | |
| 8 | g.60852933C>G | CA371324442 | CHD7 | c.6208C>G (p.His2070Asp) c.1717-9296C>G (n.1717-9296C>G) c.6298C>G (p.His2100Asp) c.4285C>G (p.His1429Asp) c.3835C>G (p.His1279Asp) c.3043C>G (p.His1015Asp) | |
| 8 | g.60852933C>T | CA371324443 | CHD7 | c.6208C>T (p.His2070Tyr) c.1717-9296C>T (n.1717-9296C>T) c.6298C>T (p.His2100Tyr) c.4285C>T (p.His1429Tyr) c.3835C>T (p.His1279Tyr) c.3043C>T (p.His1015Tyr) | gnomAD v4 |
| 8 | g.60852934del | CA2695209411 | CHD7 | c.6209del (p.His2070LeufsTer?) c.1717-9295del (n.1717-9295del) c.6299del (p.His2100LeufsTer?) c.4286del (p.His1429LeufsTer?) c.3836del (p.His1279LeufsTer?) c.3044del (p.His1015LeufsTer?) | |
| 8 | g.60852934A>C | CA371324445 | CHD7 | c.6209A>C (p.His2070Pro) c.1717-9295A>C (n.1717-9295A>C) c.6299A>C (p.His2100Pro) c.4286A>C (p.His1429Pro) c.3836A>C (p.His1279Pro) c.3044A>C (p.His1015Pro) | |
| 8 | g.60852934A>G | CA371324446 | CHD7 | c.6209A>G (p.His2070Arg) c.1717-9295A>G (n.1717-9295A>G) c.6299A>G (p.His2100Arg) c.4286A>G (p.His1429Arg) c.3836A>G (p.His1279Arg) c.3044A>G (p.His1015Arg) | gnomAD v4 |
| 8 | g.60852934A>T | CA371324447 | CHD7 | c.6209A>T (p.His2070Leu) c.1717-9295A>T (n.1717-9295A>T) c.6299A>T (p.His2100Leu) c.4286A>T (p.His1429Leu) c.3836A>T (p.His1279Leu) c.3044A>T (p.His1015Leu) | |
| 8 | g.60852935T>A | CA371324449 | CHD7 | c.6210T>A (p.His2070Gln) c.1717-9294T>A (n.1717-9294T>A) c.6300T>A (p.His2100Gln) c.4287T>A (p.His1429Gln) c.3837T>A (p.His1279Gln) c.3045T>A (p.His1015Gln) | |
| 8 | g.60852935T>C | CA461105108 | CHD7 | c.6210T>C (p.His2070=) c.1717-9294T>C (n.1717-9294T>C) c.6300T>C (p.His2100=) c.4287T>C (p.His1429=) c.3837T>C (p.His1279=) c.3045T>C (p.His1015=) | |
| 8 | g.60852935T>G | CA371324448 | CHD7 | c.6210T>G (p.His2070Gln) c.1717-9294T>G (n.1717-9294T>G) c.6300T>G (p.His2100Gln) c.4287T>G (p.His1429Gln) c.3837T>G (p.His1279Gln) c.3045T>G (p.His1015Gln) | |
| 8 | g.60852936C>A | CA371324450 | CHD7 | c.6211C>A (p.His2071Asn) c.1717-9293C>A (n.1717-9293C>A) c.6301C>A (p.His2101Asn) c.4288C>A (p.His1430Asn) c.3838C>A (p.His1280Asn) c.3046C>A (p.His1016Asn) | |
| 8 | g.60852936C>G | CA371324451 | CHD7 | c.6211C>G (p.His2071Asp) c.1717-9293C>G (n.1717-9293C>G) c.6301C>G (p.His2101Asp) c.4288C>G (p.His1430Asp) c.3838C>G (p.His1280Asp) c.3046C>G (p.His1016Asp) | |
| 8 | g.60852936C>T | CA371324452 | CHD7 | c.6211C>T (p.His2071Tyr) c.1717-9293C>T (n.1717-9293C>T) c.6301C>T (p.His2101Tyr) c.4288C>T (p.His1430Tyr) c.3838C>T (p.His1280Tyr) c.3046C>T (p.His1016Tyr) | |
| 8 | g.60852937A= | CA1788102893 | CHD7 | c.6212A= (p.His2071=) c.1717-9292A= (n.1717-9292A=) c.6302A= (p.His2101=) c.4289A= (p.His1430=) c.3839A= (p.His1280=) c.3047A= (p.His1016=) | |
| 8 | g.60852937A>C | CA371324453 | CHD7 | c.6212A>C (p.His2071Pro) c.1717-9292A>C (n.1717-9292A>C) c.6302A>C (p.His2101Pro) c.4289A>C (p.His1430Pro) c.3839A>C (p.His1280Pro) c.3047A>C (p.His1016Pro) | dbSNP |
| 8 | g.60852937A>G | CA371324454 | CHD7 | c.6212A>G (p.His2071Arg) c.1717-9292A>G (n.1717-9292A>G) c.6302A>G (p.His2101Arg) c.4289A>G (p.His1430Arg) c.3839A>G (p.His1280Arg) c.3047A>G (p.His1016Arg) | gnomAD v4 COSMIC |
| 8 | g.60852937A>T | CA371324455 | CHD7 | c.6212A>T (p.His2071Leu) c.1717-9292A>T (n.1717-9292A>T) c.6302A>T (p.His2101Leu) c.4289A>T (p.His1430Leu) c.3839A>T (p.His1280Leu) c.3047A>T (p.His1016Leu) | dbSNP |
| 8 | g.60852938C>A | CA371324456 | CHD7 | c.6213C>A (p.His2071Gln) c.1717-9291C>A (n.1717-9291C>A) c.6303C>A (p.His2101Gln) c.4290C>A (p.His1430Gln) c.3840C>A (p.His1280Gln) c.3048C>A (p.His1016Gln) | dbSNP |
| 8 | g.60852938C= | CA1788102895 | CHD7 | c.6213C= (p.His2071=) c.1717-9291C= (n.1717-9291C=) c.6303C= (p.His2101=) c.4290C= (p.His1430=) c.3840C= (p.His1280=) c.3048C= (p.His1016=) | |
| 8 | g.60852938C>G | CA371324457 | CHD7 | c.6213C>G (p.His2071Gln) c.1717-9291C>G (n.1717-9291C>G) c.6303C>G (p.His2101Gln) c.4290C>G (p.His1430Gln) c.3840C>G (p.His1280Gln) c.3048C>G (p.His1016Gln) | |
| 8 | g.60852938C>T | CA461105110 | CHD7 | c.6213C>T (p.His2071=) c.1717-9291C>T (n.1717-9291C>T) c.6303C>T (p.His2101=) c.4290C>T (p.His1430=) c.3840C>T (p.His1280=) c.3048C>T (p.His1016=) | |
| 8 | g.60852939C>A | CA371324458 | CHD7 | c.6214C>A (p.Pro2072Thr) c.1717-9290C>A (n.1717-9290C>A) c.6304C>A (p.Pro2102Thr) c.4291C>A (p.Pro1431Thr) c.3841C>A (p.Pro1281Thr) c.3049C>A (p.Pro1017Thr) | |
| 8 | g.60852939C= | CA1788102907 | CHD7 | c.6214C= (p.Pro2072=) c.1717-9290C= (n.1717-9290C=) c.6304C= (p.Pro2102=) c.4291C= (p.Pro1431=) c.3841C= (p.Pro1281=) c.3049C= (p.Pro1017=) | |
| 8 | g.60852939C>G | CA371324459 | CHD7 | c.6214C>G (p.Pro2072Ala) c.1717-9290C>G (n.1717-9290C>G) c.6304C>G (p.Pro2102Ala) c.4291C>G (p.Pro1431Ala) c.3841C>G (p.Pro1281Ala) c.3049C>G (p.Pro1017Ala) | |
| 8 | g.60852939C>T | CA4760552 | CHD7 | c.6214C>T (p.Pro2072Ser) c.1717-9290C>T (n.1717-9290C>T) c.6304C>T (p.Pro2102Ser) c.4291C>T (p.Pro1431Ser) c.3841C>T (p.Pro1281Ser) c.3049C>T (p.Pro1017Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852940C>A | CA371324460 | CHD7 | c.6215C>A (p.Pro2072His) c.1717-9289C>A (n.1717-9289C>A) c.6305C>A (p.Pro2102His) c.4292C>A (p.Pro1431His) c.3842C>A (p.Pro1281His) c.3050C>A (p.Pro1017His) | |
| 8 | g.60852940C= | CA1788102917 | CHD7 | c.6215C= (p.Pro2072=) c.1717-9289C= (n.1717-9289C=) c.6305C= (p.Pro2102=) c.4292C= (p.Pro1431=) c.3842C= (p.Pro1281=) c.3050C= (p.Pro1017=) | |
| 8 | g.60852940C>G | CA371324461 | CHD7 | c.6215C>G (p.Pro2072Arg) c.1717-9289C>G (n.1717-9289C>G) c.6305C>G (p.Pro2102Arg) c.4292C>G (p.Pro1431Arg) c.3842C>G (p.Pro1281Arg) c.3050C>G (p.Pro1017Arg) | |
| 8 | g.60852940C>T | CA4760553 | CHD7 | c.6215C>T (p.Pro2072Leu) c.1717-9289C>T (n.1717-9289C>T) c.6305C>T (p.Pro2102Leu) c.4292C>T (p.Pro1431Leu) c.3842C>T (p.Pro1281Leu) c.3050C>T (p.Pro1017Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.60852941C>A | CA461105112 | CHD7 | c.6216C>A (p.Pro2072=) c.1717-9288C>A (n.1717-9288C>A) c.6306C>A (p.Pro2102=) c.4293C>A (p.Pro1431=) c.3843C>A (p.Pro1281=) c.3051C>A (p.Pro1017=) | |
| 8 | g.60852941C= | CA1788102929 | CHD7 | c.6216C= (p.Pro2072=) c.1717-9288C= (n.1717-9288C=) c.6306C= (p.Pro2102=) c.4293C= (p.Pro1431=) c.3843C= (p.Pro1281=) c.3051C= (p.Pro1017=) | |
| 8 | g.60852941C>G | CA223312 | CHD7 | c.6216C>G (p.Pro2072=) c.1717-9288C>G (n.1717-9288C>G) c.6306C>G (p.Pro2102=) c.4293C>G (p.Pro1431=) c.3843C>G (p.Pro1281=) c.3051C>G (p.Pro1017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852941C>T | CA461105113 | CHD7 | c.6216C>T (p.Pro2072=) c.1717-9288C>T (n.1717-9288C>T) c.6306C>T (p.Pro2102=) c.4293C>T (p.Pro1431=) c.3843C>T (p.Pro1281=) c.3051C>T (p.Pro1017=) | dbSNP gnomAD v4 |
| 8 | g.60852942C>A | CA371324463 | CHD7 | c.6217C>A (p.Gln2073Lys) c.1717-9287C>A (n.1717-9287C>A) c.6307C>A (p.Gln2103Lys) c.4294C>A (p.Gln1432Lys) c.3844C>A (p.Gln1282Lys) c.3052C>A (p.Gln1018Lys) | |
| 8 | g.60852942C>G | CA371324462 | CHD7 | c.6217C>G (p.Gln2073Glu) c.1717-9287C>G (n.1717-9287C>G) c.6307C>G (p.Gln2103Glu) c.4294C>G (p.Gln1432Glu) c.3844C>G (p.Gln1282Glu) c.3052C>G (p.Gln1018Glu) | |
| 8 | g.60852942C>T | CA371324464 | CHD7 | c.6217C>T (p.Gln2073Ter) c.1717-9287C>T (n.1717-9287C>T) c.6307C>T (p.Gln2103Ter) c.4294C>T (p.Gln1432Ter) c.3844C>T (p.Gln1282Ter) c.3052C>T (p.Gln1018Ter) | ClinVar dbSNP |
| 8 | g.60852943A>C | CA371324465 | CHD7 | c.6218A>C (p.Gln2073Pro) c.1717-9286A>C (n.1717-9286A>C) c.6308A>C (p.Gln2103Pro) c.4295A>C (p.Gln1432Pro) c.3845A>C (p.Gln1282Pro) c.3053A>C (p.Gln1018Pro) | |
| 8 | g.60852943A>G | CA371324467 | CHD7 | c.6218A>G (p.Gln2073Arg) c.1717-9286A>G (n.1717-9286A>G) c.6308A>G (p.Gln2103Arg) c.4295A>G (p.Gln1432Arg) c.3845A>G (p.Gln1282Arg) c.3053A>G (p.Gln1018Arg) | gnomAD v4 |
| 8 | g.60852943A>T | CA371324466 | CHD7 | c.6218A>T (p.Gln2073Leu) c.1717-9286A>T (n.1717-9286A>T) c.6308A>T (p.Gln2103Leu) c.4295A>T (p.Gln1432Leu) c.3845A>T (p.Gln1282Leu) c.3053A>T (p.Gln1018Leu) | |
| 8 | g.60852944G>A | CA4760554 | CHD7 | c.6219G>A (p.Gln2073=) c.1717-9285G>A (n.1717-9285G>A) c.6309G>A (p.Gln2103=) c.4296G>A (p.Gln1432=) c.3846G>A (p.Gln1282=) c.3054G>A (p.Gln1018=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852944G>C | CA371324468 | CHD7 | c.6219G>C (p.Gln2073His) c.1717-9285G>C (n.1717-9285G>C) c.6309G>C (p.Gln2103His) c.4296G>C (p.Gln1432His) c.3846G>C (p.Gln1282His) c.3054G>C (p.Gln1018His) | |
| 8 | g.60852944G= | CA1788102964 | CHD7 | c.6219G= (p.Gln2073=) c.1717-9285G= (n.1717-9285G=) c.6309G= (p.Gln2103=) c.4296G= (p.Gln1432=) c.3846G= (p.Gln1282=) c.3054G= (p.Gln1018=) | |
| 8 | g.60852944G>T | CA371324469 | CHD7 | c.6219G>T (p.Gln2073His) c.1717-9285G>T (n.1717-9285G>T) c.6309G>T (p.Gln2103His) c.4296G>T (p.Gln1432His) c.3846G>T (p.Gln1282His) c.3054G>T (p.Gln1018His) | |
| 8 | g.60852945C>A | CA177354047 | CHD7 | c.6220C>A (p.Leu2074Met) c.1717-9284C>A (n.1717-9284C>A) c.6310C>A (p.Leu2104Met) c.4297C>A (p.Leu1433Met) c.3847C>A (p.Leu1283Met) c.3055C>A (p.Leu1019Met) | dbSNP gnomAD v4 |
| 8 | g.60852945C= | CA1788102988 | CHD7 | c.6220C= (p.Leu2074=) c.1717-9284C= (n.1717-9284C=) c.6310C= (p.Leu2104=) c.4297C= (p.Leu1433=) c.3847C= (p.Leu1283=) c.3055C= (p.Leu1019=) | |
| 8 | g.60852945C>G | CA371324470 | CHD7 | c.6220C>G (p.Leu2074Val) c.1717-9284C>G (n.1717-9284C>G) c.6310C>G (p.Leu2104Val) c.4297C>G (p.Leu1433Val) c.3847C>G (p.Leu1283Val) c.3055C>G (p.Leu1019Val) | |
| 8 | g.60852945C>T | CA461105115 | CHD7 | c.6220C>T (p.Leu2074=) c.1717-9284C>T (n.1717-9284C>T) c.6310C>T (p.Leu2104=) c.4297C>T (p.Leu1433=) c.3847C>T (p.Leu1283=) c.3055C>T (p.Leu1019=) | |
| 8 | g.60852946T>A | CA371324471 | CHD7 | c.6221T>A (p.Leu2074Gln) c.1717-9283T>A (n.1717-9283T>A) c.6311T>A (p.Leu2104Gln) c.4298T>A (p.Leu1433Gln) c.3848T>A (p.Leu1283Gln) c.3056T>A (p.Leu1019Gln) | |
| 8 | g.60852946T>C | CA371324472 | CHD7 | c.6221T>C (p.Leu2074Pro) c.1717-9283T>C (n.1717-9283T>C) c.6311T>C (p.Leu2104Pro) c.4298T>C (p.Leu1433Pro) c.3848T>C (p.Leu1283Pro) c.3056T>C (p.Leu1019Pro) | |
| 8 | g.60852946T>G | CA371324473 | CHD7 | c.6221T>G (p.Leu2074Arg) c.1717-9283T>G (n.1717-9283T>G) c.6311T>G (p.Leu2104Arg) c.4298T>G (p.Leu1433Arg) c.3848T>G (p.Leu1283Arg) c.3056T>G (p.Leu1019Arg) | |
| 8 | g.60852947G>A | CA461105117 | CHD7 | c.6222G>A (p.Leu2074=) c.1717-9282G>A (n.1717-9282G>A) c.6312G>A (p.Leu2104=) c.4299G>A (p.Leu1433=) c.3849G>A (p.Leu1283=) c.3057G>A (p.Leu1019=) | |
| 8 | g.60852947G>C | CA461105118 | CHD7 | c.6222G>C (p.Leu2074=) c.1717-9282G>C (n.1717-9282G>C) c.6312G>C (p.Leu2104=) c.4299G>C (p.Leu1433=) c.3849G>C (p.Leu1283=) c.3057G>C (p.Leu1019=) | |
| 8 | g.60852947G>T | CA461105119 | CHD7 | c.6222G>T (p.Leu2074=) c.1717-9282G>T (n.1717-9282G>T) c.6312G>T (p.Leu2104=) c.4299G>T (p.Leu1433=) c.3849G>T (p.Leu1283=) c.3057G>T (p.Leu1019=) | |
| 8 | g.60852949del | CA2695209412 | CHD7 | c.6224del (p.Gly2075GlufsTer?) c.1717-9280del (n.1717-9280del) c.6314del (p.Gly2105GlufsTer?) c.4301del (p.Gly1434GlufsTer?) c.3851del (p.Gly1284GlufsTer?) c.3059del (p.Gly1020GlufsTer?) | |
| 8 | g.60852948G>A | CA371324474 | CHD7 | c.6223G>A (p.Gly2075Arg) c.1717-9281G>A (n.1717-9281G>A) c.6313G>A (p.Gly2105Arg) c.4300G>A (p.Gly1434Arg) c.3850G>A (p.Gly1284Arg) c.3058G>A (p.Gly1020Arg) | |
| 8 | g.60852948G>C | CA371324475 | CHD7 | c.6223G>C (p.Gly2075Arg) c.1717-9281G>C (n.1717-9281G>C) c.6313G>C (p.Gly2105Arg) c.4300G>C (p.Gly1434Arg) c.3850G>C (p.Gly1284Arg) c.3058G>C (p.Gly1020Arg) | |
| 8 | g.60852948G>T | CA371324476 | CHD7 | c.6223G>T (p.Gly2075Ter) c.1717-9281G>T (n.1717-9281G>T) c.6313G>T (p.Gly2105Ter) c.4300G>T (p.Gly1434Ter) c.3850G>T (p.Gly1284Ter) c.3058G>T (p.Gly1020Ter) | |
| 8 | g.60852949G>A | CA371324479 | CHD7 | c.6224G>A (p.Gly2075Glu) c.1717-9280G>A (n.1717-9280G>A) c.6314G>A (p.Gly2105Glu) c.4301G>A (p.Gly1434Glu) c.3851G>A (p.Gly1284Glu) c.3059G>A (p.Gly1020Glu) | gnomAD v4 |
| 8 | g.60852949G>C | CA371324477 | CHD7 | c.6224G>C (p.Gly2075Ala) c.1717-9280G>C (n.1717-9280G>C) c.6314G>C (p.Gly2105Ala) c.4301G>C (p.Gly1434Ala) c.3851G>C (p.Gly1284Ala) c.3059G>C (p.Gly1020Ala) | |
| 8 | g.60852949G>T | CA371324478 | CHD7 | c.6224G>T (p.Gly2075Val) c.1717-9280G>T (n.1717-9280G>T) c.6314G>T (p.Gly2105Val) c.4301G>T (p.Gly1434Val) c.3851G>T (p.Gly1284Val) c.3059G>T (p.Gly1020Val) | |
| 8 | g.60852950A= | CA1788102994 | CHD7 | c.6225A= (p.Gly2075=) c.1717-9279A= (n.1717-9279A=) c.6315A= (p.Gly2105=) c.4302A= (p.Gly1434=) c.3852A= (p.Gly1284=) c.3060A= (p.Gly1020=) | |
| 8 | g.60852950A>C | CA461105120 | CHD7 | c.6225A>C (p.Gly2075=) c.1717-9279A>C (n.1717-9279A>C) c.6315A>C (p.Gly2105=) c.4302A>C (p.Gly1434=) c.3852A>C (p.Gly1284=) c.3060A>C (p.Gly1020=) | |
| 8 | g.60852950A>G | CA10587010 | CHD7 | c.6225A>G (p.Gly2075=) c.1717-9279A>G (n.1717-9279A>G) c.6315A>G (p.Gly2105=) c.4302A>G (p.Gly1434=) c.3852A>G (p.Gly1284=) c.3060A>G (p.Gly1020=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852950A>T | CA461105121 | CHD7 | c.6225A>T (p.Gly2075=) c.1717-9279A>T (n.1717-9279A>T) c.6315A>T (p.Gly2105=) c.4302A>T (p.Gly1434=) c.3852A>T (p.Gly1284=) c.3060A>T (p.Gly1020=) | |
| 8 | g.60852951G>A | CA177354050 | CHD7 | c.6226G>A (p.Glu2076Lys) c.1717-9278G>A (n.1717-9278G>A) c.6316G>A (p.Glu2106Lys) c.4303G>A (p.Glu1435Lys) c.3853G>A (p.Glu1285Lys) c.3061G>A (p.Glu1021Lys) | dbSNP |
| 8 | g.60852951G>C | CA371324480 | CHD7 | c.6226G>C (p.Glu2076Gln) c.1717-9278G>C (n.1717-9278G>C) c.6316G>C (p.Glu2106Gln) c.4303G>C (p.Glu1435Gln) c.3853G>C (p.Glu1285Gln) c.3061G>C (p.Glu1021Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852951G= | CA1788103004 | CHD7 | c.6226G= (p.Glu2076=) c.1717-9278G= (n.1717-9278G=) c.6316G= (p.Glu2106=) c.4303G= (p.Glu1435=) c.3853G= (p.Glu1285=) c.3061G= (p.Glu1021=) | |
| 8 | g.60852951G>T | CA371324481 | CHD7 | c.6226G>T (p.Glu2076Ter) c.1717-9278G>T (n.1717-9278G>T) c.6316G>T (p.Glu2106Ter) c.4303G>T (p.Glu1435Ter) c.3853G>T (p.Glu1285Ter) c.3061G>T (p.Glu1021Ter) | |
| 8 | g.60852952A>C | CA371324482 | CHD7 | c.6227A>C (p.Glu2076Ala) c.1717-9277A>C (n.1717-9277A>C) c.6317A>C (p.Glu2106Ala) c.4304A>C (p.Glu1435Ala) c.3854A>C (p.Glu1285Ala) c.3062A>C (p.Glu1021Ala) | |
| 8 | g.60852952A>G | CA371324483 | CHD7 | c.6227A>G (p.Glu2076Gly) c.1717-9277A>G (n.1717-9277A>G) c.6317A>G (p.Glu2106Gly) c.4304A>G (p.Glu1435Gly) c.3854A>G (p.Glu1285Gly) c.3062A>G (p.Glu1021Gly) | |
| 8 | g.60852952A>T | CA371324484 | CHD7 | c.6227A>T (p.Glu2076Val) c.1717-9277A>T (n.1717-9277A>T) c.6317A>T (p.Glu2106Val) c.4304A>T (p.Glu1435Val) c.3854A>T (p.Glu1285Val) c.3062A>T (p.Glu1021Val) | |
| 8 | g.60852953del | CA2695209413 | CHD7 | c.6228del (p.Arg2077GlyfsTer?) c.1717-9276del (n.1717-9276del) c.6318del (p.Arg2107GlyfsTer?) c.4305del (p.Arg1436GlyfsTer?) c.3855del (p.Arg1286GlyfsTer?) c.3063del (p.Arg1022GlyfsTer?) | |
| 8 | g.60852953G>A | CA461105123 | CHD7 | c.6228G>A (p.Glu2076=) c.1717-9276G>A (n.1717-9276G>A) c.6318G>A (p.Glu2106=) c.4305G>A (p.Glu1435=) c.3855G>A (p.Glu1285=) c.3063G>A (p.Glu1021=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852953G>C | CA371324485 | CHD7 | c.6228G>C (p.Glu2076Asp) c.1717-9276G>C (n.1717-9276G>C) c.6318G>C (p.Glu2106Asp) c.4305G>C (p.Glu1435Asp) c.3855G>C (p.Glu1285Asp) c.3063G>C (p.Glu1021Asp) | |
| 8 | g.60852953G= | CA1788103025 | CHD7 | c.6228G= (p.Glu2076=) c.1717-9276G= (n.1717-9276G=) c.6318G= (p.Glu2106=) c.4305G= (p.Glu1435=) c.3855G= (p.Glu1285=) c.3063G= (p.Glu1021=) | |
| 8 | g.60852953G>T | CA371324486 | CHD7 | c.6228G>T (p.Glu2076Asp) c.1717-9276G>T (n.1717-9276G>T) c.6318G>T (p.Glu2106Asp) c.4305G>T (p.Glu1435Asp) c.3855G>T (p.Glu1285Asp) c.3063G>T (p.Glu1021Asp) | |
| 8 | g.60852954A>C | CA461105124 | CHD7 | c.6229A>C (p.Arg2077=) c.1717-9275A>C (n.1717-9275A>C) c.6319A>C (p.Arg2107=) c.4306A>C (p.Arg1436=) c.3856A>C (p.Arg1286=) c.3064A>C (p.Arg1022=) | |
| 8 | g.60852954A>G | CA371324487 | CHD7 | c.6229A>G (p.Arg2077Gly) c.1717-9275A>G (n.1717-9275A>G) c.6319A>G (p.Arg2107Gly) c.4306A>G (p.Arg1436Gly) c.3856A>G (p.Arg1286Gly) c.3064A>G (p.Arg1022Gly) | |
| 8 | g.60852954A>T | CA371324488 | CHD7 | c.6229A>T (p.Arg2077Trp) c.1717-9275A>T (n.1717-9275A>T) c.6319A>T (p.Arg2107Trp) c.4306A>T (p.Arg1436Trp) c.3856A>T (p.Arg1286Trp) c.3064A>T (p.Arg1022Trp) | |
| 8 | g.60852955G>A | CA371324490 | CHD7 | c.6230G>A (p.Arg2077Lys) c.1717-9274G>A (n.1717-9274G>A) c.6320G>A (p.Arg2107Lys) c.4307G>A (p.Arg1436Lys) c.3857G>A (p.Arg1286Lys) c.3065G>A (p.Arg1022Lys) | |
| 8 | g.60852955G>C | CA371324491 | CHD7 | c.6230G>C (p.Arg2077Thr) c.1717-9274G>C (n.1717-9274G>C) c.6320G>C (p.Arg2107Thr) c.4307G>C (p.Arg1436Thr) c.3857G>C (p.Arg1286Thr) c.3065G>C (p.Arg1022Thr) | |
| 8 | g.60852955G>T | CA371324489 | CHD7 | c.6230G>T (p.Arg2077Met) c.1717-9274G>T (n.1717-9274G>T) c.6320G>T (p.Arg2107Met) c.4307G>T (p.Arg1436Met) c.3857G>T (p.Arg1286Met) c.3065G>T (p.Arg1022Met) | |
| 8 | g.60852956G>A | CA461105126 | CHD7 | c.6231G>A (p.Arg2077=) c.1717-9273G>A (n.1717-9273G>A) c.6321G>A (p.Arg2107=) c.4308G>A (p.Arg1436=) c.3858G>A (p.Arg1286=) c.3066G>A (p.Arg1022=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852956G>C | CA371324492 | CHD7 | c.6231G>C (p.Arg2077Ser) c.1717-9273G>C (n.1717-9273G>C) c.6321G>C (p.Arg2107Ser) c.4308G>C (p.Arg1436Ser) c.3858G>C (p.Arg1286Ser) c.3066G>C (p.Arg1022Ser) | |
| 8 | g.60852956G= | CA1788103033 | CHD7 | c.6231G= (p.Arg2077=) c.1717-9273G= (n.1717-9273G=) c.6321G= (p.Arg2107=) c.4308G= (p.Arg1436=) c.3858G= (p.Arg1286=) c.3066G= (p.Arg1022=) | |
| 8 | g.60852956G>T | CA371324493 | CHD7 | c.6231G>T (p.Arg2077Ser) c.1717-9273G>T (n.1717-9273G>T) c.6321G>T (p.Arg2107Ser) c.4308G>T (p.Arg1436Ser) c.3858G>T (p.Arg1286Ser) c.3066G>T (p.Arg1022Ser) | |
| 8 | g.60852957C>A | CA371324494 | CHD7 | c.6232C>A (p.Leu2078Ile) c.1717-9272C>A (n.1717-9272C>A) c.6322C>A (p.Leu2108Ile) c.4309C>A (p.Leu1437Ile) c.3859C>A (p.Leu1287Ile) c.3067C>A (p.Leu1023Ile) | |
| 8 | g.60852957C>G | CA371324495 | CHD7 | c.6232C>G (p.Leu2078Val) c.1717-9272C>G (n.1717-9272C>G) c.6322C>G (p.Leu2108Val) c.4309C>G (p.Leu1437Val) c.3859C>G (p.Leu1287Val) c.3067C>G (p.Leu1023Val) | |
| 8 | g.60852957C>T | CA371324496 | CHD7 | c.6232C>T (p.Leu2078Phe) c.1717-9272C>T (n.1717-9272C>T) c.6322C>T (p.Leu2108Phe) c.4309C>T (p.Leu1437Phe) c.3859C>T (p.Leu1287Phe) c.3067C>T (p.Leu1023Phe) | |
| 8 | g.60852958T>A | CA371324499 | CHD7 | c.6233T>A (p.Leu2078His) c.1717-9271T>A (n.1717-9271T>A) c.6323T>A (p.Leu2108His) c.4310T>A (p.Leu1437His) c.3860T>A (p.Leu1287His) c.3068T>A (p.Leu1023His) | |
| 8 | g.60852958T>C | CA371324498 | CHD7 | c.6233T>C (p.Leu2078Pro) c.1717-9271T>C (n.1717-9271T>C) c.6323T>C (p.Leu2108Pro) c.4310T>C (p.Leu1437Pro) c.3860T>C (p.Leu1287Pro) c.3068T>C (p.Leu1023Pro) | |
| 8 | g.60852958T>G | CA371324497 | CHD7 | c.6233T>G (p.Leu2078Arg) c.1717-9271T>G (n.1717-9271T>G) c.6323T>G (p.Leu2108Arg) c.4310T>G (p.Leu1437Arg) c.3860T>G (p.Leu1287Arg) c.3068T>G (p.Leu1023Arg) | |
| 8 | g.60852959T>A | CA461105129 | CHD7 | c.6234T>A (p.Leu2078=) c.1717-9270T>A (n.1717-9270T>A) c.6324T>A (p.Leu2108=) c.4311T>A (p.Leu1437=) c.3861T>A (p.Leu1287=) c.3069T>A (p.Leu1023=) | |
| 8 | g.60852959T>C | CA461105127 | CHD7 | c.6234T>C (p.Leu2078=) c.1717-9270T>C (n.1717-9270T>C) c.6324T>C (p.Leu2108=) c.4311T>C (p.Leu1437=) c.3861T>C (p.Leu1287=) c.3069T>C (p.Leu1023=) | |
| 8 | g.60852959T>G | CA461105128 | CHD7 | c.6234T>G (p.Leu2078=) c.1717-9270T>G (n.1717-9270T>G) c.6324T>G (p.Leu2108=) c.4311T>G (p.Leu1437=) c.3861T>G (p.Leu1287=) c.3069T>G (p.Leu1023=) | |
| 8 | g.60852960A>C | CA371324500 | CHD7 | c.6235A>C (p.Lys2079Gln) c.1717-9269A>C (n.1717-9269A>C) c.6325A>C (p.Lys2109Gln) c.4312A>C (p.Lys1438Gln) c.3862A>C (p.Lys1288Gln) c.3070A>C (p.Lys1024Gln) | |
| 8 | g.60852960A>G | CA371324501 | CHD7 | c.6235A>G (p.Lys2079Glu) c.1717-9269A>G (n.1717-9269A>G) c.6325A>G (p.Lys2109Glu) c.4312A>G (p.Lys1438Glu) c.3862A>G (p.Lys1288Glu) c.3070A>G (p.Lys1024Glu) | gnomAD v4 |
| 8 | g.60852960A>T | CA371324502 | CHD7 | c.6235A>T (p.Lys2079Ter) c.1717-9269A>T (n.1717-9269A>T) c.6325A>T (p.Lys2109Ter) c.4312A>T (p.Lys1438Ter) c.3862A>T (p.Lys1288Ter) c.3070A>T (p.Lys1024Ter) | |
| 8 | g.60852961del | CA2580078852 | CHD7 | c.6236del (p.Lys2079SerfsTer?) c.1717-9268del (n.1717-9268del) c.6326del (p.Lys2109SerfsTer?) c.4313del (p.Lys1438SerfsTer?) c.3863del (p.Lys1288SerfsTer?) c.3071del (p.Lys1024SerfsTer?) | ClinVar |
| 8 | g.60852961A= | CA1788103040 | CHD7 | c.6236A= (p.Lys2079=) c.1717-9268A= (n.1717-9268A=) c.6326A= (p.Lys2109=) c.4313A= (p.Lys1438=) c.3863A= (p.Lys1288=) c.3071A= (p.Lys1024=) | |
| 8 | g.60852961A>C | CA4760555 | CHD7 | c.6236A>C (p.Lys2079Thr) c.1717-9268A>C (n.1717-9268A>C) c.6326A>C (p.Lys2109Thr) c.4313A>C (p.Lys1438Thr) c.3863A>C (p.Lys1288Thr) c.3071A>C (p.Lys1024Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852961A>G | CA371324503 | CHD7 | c.6236A>G (p.Lys2079Arg) c.1717-9268A>G (n.1717-9268A>G) c.6326A>G (p.Lys2109Arg) c.4313A>G (p.Lys1438Arg) c.3863A>G (p.Lys1288Arg) c.3071A>G (p.Lys1024Arg) | |
| 8 | g.60852961A>T | CA371324504 | CHD7 | c.6236A>T (p.Lys2079Met) c.1717-9268A>T (n.1717-9268A>T) c.6326A>T (p.Lys2109Met) c.4313A>T (p.Lys1438Met) c.3863A>T (p.Lys1288Met) c.3071A>T (p.Lys1024Met) | |
| 8 | g.60852962G>A | CA4760556 | CHD7 | c.6237G>A (p.Lys2079=) c.1717-9267G>A (n.1717-9267G>A) c.6327G>A (p.Lys2109=) c.4314G>A (p.Lys1438=) c.3864G>A (p.Lys1288=) c.3072G>A (p.Lys1024=) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.60852962G>C | CA371324506 | CHD7 | c.6237G>C (p.Lys2079Asn) c.1717-9267G>C (n.1717-9267G>C) c.6327G>C (p.Lys2109Asn) c.4314G>C (p.Lys1438Asn) c.3864G>C (p.Lys1288Asn) c.3072G>C (p.Lys1024Asn) | |
| 8 | g.60852962G= | CA1788103053 | CHD7 | c.6237G= (p.Lys2079=) c.1717-9267G= (n.1717-9267G=) c.6327G= (p.Lys2109=) c.4314G= (p.Lys1438=) c.3864G= (p.Lys1288=) c.3072G= (p.Lys1024=) | |
| 8 | g.60852962G>T | CA371324505 | CHD7 | c.6237G>T (p.Lys2079Asn) c.1717-9267G>T (n.1717-9267G>T) c.6327G>T (p.Lys2109Asn) c.4314G>T (p.Lys1438Asn) c.3864G>T (p.Lys1288Asn) c.3072G>T (p.Lys1024Asn) | dbSNP gnomAD v4 |
| 8 | g.60852963C>A | CA371324507 | CHD7 | c.6238C>A (p.Leu2080Ile) c.1717-9266C>A (n.1717-9266C>A) c.6328C>A (p.Leu2110Ile) c.4315C>A (p.Leu1439Ile) c.3865C>A (p.Leu1289Ile) c.3073C>A (p.Leu1025Ile) | |
| 8 | g.60852963C= | CA1788103060 | CHD7 | c.6238C= (p.Leu2080=) c.1717-9266C= (n.1717-9266C=) c.6328C= (p.Leu2110=) c.4315C= (p.Leu1439=) c.3865C= (p.Leu1289=) c.3073C= (p.Leu1025=) | |
| 8 | g.60852963C>G | CA371324508 | CHD7 | c.6238C>G (p.Leu2080Val) c.1717-9266C>G (n.1717-9266C>G) c.6328C>G (p.Leu2110Val) c.4315C>G (p.Leu1439Val) c.3865C>G (p.Leu1289Val) c.3073C>G (p.Leu1025Val) | dbSNP |
| 8 | g.60852963C>T | CA371324509 | CHD7 | c.6238C>T (p.Leu2080Phe) c.1717-9266C>T (n.1717-9266C>T) c.6328C>T (p.Leu2110Phe) c.4315C>T (p.Leu1439Phe) c.3865C>T (p.Leu1289Phe) c.3073C>T (p.Leu1025Phe) | |
| 8 | g.60852964T>A | CA371324510 | CHD7 | c.6239T>A (p.Leu2080His) c.1717-9265T>A (n.1717-9265T>A) c.6329T>A (p.Leu2110His) c.4316T>A (p.Leu1439His) c.3866T>A (p.Leu1289His) c.3074T>A (p.Leu1025His) | |
| 8 | g.60852964T>C | CA16618676 | CHD7 | c.6239T>C (p.Leu2080Pro) c.1717-9265T>C (n.1717-9265T>C) c.6329T>C (p.Leu2110Pro) c.4316T>C (p.Leu1439Pro) c.3866T>C (p.Leu1289Pro) c.3074T>C (p.Leu1025Pro) | ClinVar dbSNP |
| 8 | g.60852964T>G | CA371324511 | CHD7 | c.6239T>G (p.Leu2080Arg) c.1717-9265T>G (n.1717-9265T>G) c.6329T>G (p.Leu2110Arg) c.4316T>G (p.Leu1439Arg) c.3866T>G (p.Leu1289Arg) c.3074T>G (p.Leu1025Arg) | |
| 8 | g.60852964T= | CA1788103065 | CHD7 | c.6239T= (p.Leu2080=) c.1717-9265T= (n.1717-9265T=) c.6329T= (p.Leu2110=) c.4316T= (p.Leu1439=) c.3866T= (p.Leu1289=) c.3074T= (p.Leu1025=) | |
| 8 | g.60852965C>A | CA461105133 | CHD7 | c.6240C>A (p.Leu2080=) c.1717-9264C>A (n.1717-9264C>A) c.6330C>A (p.Leu2110=) c.4317C>A (p.Leu1439=) c.3867C>A (p.Leu1289=) c.3075C>A (p.Leu1025=) | |
| 8 | g.60852965C>G | CA461105134 | CHD7 | c.6240C>G (p.Leu2080=) c.1717-9264C>G (n.1717-9264C>G) c.6330C>G (p.Leu2110=) c.4317C>G (p.Leu1439=) c.3867C>G (p.Leu1289=) c.3075C>G (p.Leu1025=) | ClinVar gnomAD v4 |
| 8 | g.60852965C>T | CA461105135 | CHD7 | c.6240C>T (p.Leu2080=) c.1717-9264C>T (n.1717-9264C>T) c.6330C>T (p.Leu2110=) c.4317C>T (p.Leu1439=) c.3867C>T (p.Leu1289=) c.3075C>T (p.Leu1025=) | COSMIC |
| 8 | g.60852966T>A | CA371324512 | CHD7 | c.6241T>A (p.Cys2081Ser) c.1717-9263T>A (n.1717-9263T>A) c.6331T>A (p.Cys2111Ser) c.4318T>A (p.Cys1440Ser) c.3868T>A (p.Cys1290Ser) c.3076T>A (p.Cys1026Ser) | |
| 8 | g.60852966T>C | CA371324513 | CHD7 | c.6241T>C (p.Cys2081Arg) c.1717-9263T>C (n.1717-9263T>C) c.6331T>C (p.Cys2111Arg) c.4318T>C (p.Cys1440Arg) c.3868T>C (p.Cys1290Arg) c.3076T>C (p.Cys1026Arg) | ClinVar dbSNP |
| 8 | g.60852966T>G | CA371324514 | CHD7 | c.6241T>G (p.Cys2081Gly) c.1717-9263T>G (n.1717-9263T>G) c.6331T>G (p.Cys2111Gly) c.4318T>G (p.Cys1440Gly) c.3868T>G (p.Cys1290Gly) c.3076T>G (p.Cys1026Gly) | |
| 8 | g.60852967del | CA2697549947 | CHD7 | c.6242del (p.Cys2081SerfsTer?) c.1717-9262del (n.1717-9262del) c.6332del (p.Cys2111SerfsTer?) c.4319del (p.Cys1440SerfsTer?) c.3869del (p.Cys1290SerfsTer?) c.3077del (p.Cys1026SerfsTer?) | ClinVar |
| 8 | g.60852967G>A | CA371324515 | CHD7 | c.6242G>A (p.Cys2081Tyr) c.1717-9262G>A (n.1717-9262G>A) c.6332G>A (p.Cys2111Tyr) c.4319G>A (p.Cys1440Tyr) c.3869G>A (p.Cys1290Tyr) c.3077G>A (p.Cys1026Tyr) | |
| 8 | g.60852967G>C | CA371324516 | CHD7 | c.6242G>C (p.Cys2081Ser) c.1717-9262G>C (n.1717-9262G>C) c.6332G>C (p.Cys2111Ser) c.4319G>C (p.Cys1440Ser) c.3869G>C (p.Cys1290Ser) c.3077G>C (p.Cys1026Ser) | |
| 8 | g.60852967G>T | CA371324517 | CHD7 | c.6242G>T (p.Cys2081Phe) c.1717-9262G>T (n.1717-9262G>T) c.6332G>T (p.Cys2111Phe) c.4319G>T (p.Cys1440Phe) c.3869G>T (p.Cys1290Phe) c.3077G>T (p.Cys1026Phe) | |
| 8 | g.60852968C>A | CA10603119 | CHD7 | c.6243C>A (p.Cys2081Ter) c.1717-9261C>A (n.1717-9261C>A) c.6333C>A (p.Cys2111Ter) c.4320C>A (p.Cys1440Ter) c.3870C>A (p.Cys1290Ter) c.3078C>A (p.Cys1026Ter) | ClinVar dbSNP |
| 8 | g.60852968C= | CA1788103069 | CHD7 | c.6243C= (p.Cys2081=) c.1717-9261C= (n.1717-9261C=) c.6333C= (p.Cys2111=) c.4320C= (p.Cys1440=) c.3870C= (p.Cys1290=) c.3078C= (p.Cys1026=) | |
| 8 | g.60852968C>G | CA371324518 | CHD7 | c.6243C>G (p.Cys2081Trp) c.1717-9261C>G (n.1717-9261C>G) c.6333C>G (p.Cys2111Trp) c.4320C>G (p.Cys1440Trp) c.3870C>G (p.Cys1290Trp) c.3078C>G (p.Cys1026Trp) | |
| 8 | g.60852968C>T | CA461105139 | CHD7 | c.6243C>T (p.Cys2081=) c.1717-9261C>T (n.1717-9261C>T) c.6333C>T (p.Cys2111=) c.4320C>T (p.Cys1440=) c.3870C>T (p.Cys1290=) c.3078C>T (p.Cys1026=) | |
| 8 | g.60852969C>A | CA371324519 | CHD7 | c.6244C>A (p.Gln2082Lys) c.1717-9260C>A (n.1717-9260C>A) c.6334C>A (p.Gln2112Lys) c.4321C>A (p.Gln1441Lys) c.3871C>A (p.Gln1291Lys) c.3079C>A (p.Gln1027Lys) | |
| 8 | g.60852969C>G | CA371324522 | CHD7 | c.6244C>G (p.Gln2082Glu) c.1717-9260C>G (n.1717-9260C>G) c.6334C>G (p.Gln2112Glu) c.4321C>G (p.Gln1441Glu) c.3871C>G (p.Gln1291Glu) c.3079C>G (p.Gln1027Glu) | |
| 8 | g.60852969C>T | CA371324520 | CHD7 | c.6244C>T (p.Gln2082Ter) c.1717-9260C>T (n.1717-9260C>T) c.6334C>T (p.Gln2112Ter) c.4321C>T (p.Gln1441Ter) c.3871C>T (p.Gln1291Ter) c.3079C>T (p.Gln1027Ter) | |
| 8 | g.60852970A>C | CA371324524 | CHD7 | c.6245A>C (p.Gln2082Pro) c.1717-9259A>C (n.1717-9259A>C) c.6335A>C (p.Gln2112Pro) c.4322A>C (p.Gln1441Pro) c.3872A>C (p.Gln1291Pro) c.3080A>C (p.Gln1027Pro) | |
| 8 | g.60852970A>G | CA371324525 | CHD7 | c.6245A>G (p.Gln2082Arg) c.1717-9259A>G (n.1717-9259A>G) c.6335A>G (p.Gln2112Arg) c.4322A>G (p.Gln1441Arg) c.3872A>G (p.Gln1291Arg) c.3080A>G (p.Gln1027Arg) | |
| 8 | g.60852970A>T | CA371324526 | CHD7 | c.6245A>T (p.Gln2082Leu) c.1717-9259A>T (n.1717-9259A>T) c.6335A>T (p.Gln2112Leu) c.4322A>T (p.Gln1441Leu) c.3872A>T (p.Gln1291Leu) c.3080A>T (p.Gln1027Leu) | |
| 8 | g.60852971G>A | CA461105141 | CHD7 | c.6246G>A (p.Gln2082=) c.1717-9258G>A (n.1717-9258G>A) c.6336G>A (p.Gln2112=) c.4323G>A (p.Gln1441=) c.3873G>A (p.Gln1291=) c.3081G>A (p.Gln1027=) | |
| 8 | g.60852971G>C | CA371324528 | CHD7 | c.6246G>C (p.Gln2082His) c.1717-9258G>C (n.1717-9258G>C) c.6336G>C (p.Gln2112His) c.4323G>C (p.Gln1441His) c.3873G>C (p.Gln1291His) c.3081G>C (p.Gln1027His) | |
| 8 | g.60852971G>T | CA371324529 | CHD7 | c.6246G>T (p.Gln2082His) c.1717-9258G>T (n.1717-9258G>T) c.6336G>T (p.Gln2112His) c.4323G>T (p.Gln1441His) c.3873G>T (p.Gln1291His) c.3081G>T (p.Gln1027His) | |
| 8 | g.60852971_60852972insAT | CA2579173705 | CHD7 | c.6246_6247insAT (p.Pro2083IlefsTer?) c.1717-9258_1717-9257insAT (n.1717-9258_1717-9257insAT) c.6336_6337insAT (p.Pro2113IlefsTer?) c.4323_4324insAT (p.Pro1442IlefsTer?) c.3873_3874insAT (p.Pro1292IlefsTer?) c.3081_3082insAT (p.Pro1028IlefsTer?) | |
| 8 | g.60852972C>A | CA371324530 | CHD7 | c.6247C>A (p.Pro2083Thr) c.1717-9257C>A (n.1717-9257C>A) c.6337C>A (p.Pro2113Thr) c.4324C>A (p.Pro1442Thr) c.3874C>A (p.Pro1292Thr) c.3082C>A (p.Pro1028Thr) | |
| 8 | g.60852972C= | CA1788103081 | CHD7 | c.6247C= (p.Pro2083=) c.1717-9257C= (n.1717-9257C=) c.6337C= (p.Pro2113=) c.4324C= (p.Pro1442=) c.3874C= (p.Pro1292=) c.3082C= (p.Pro1028=) | |
| 8 | g.60852972C>G | CA371324531 | CHD7 | c.6247C>G (p.Pro2083Ala) c.1717-9257C>G (n.1717-9257C>G) c.6337C>G (p.Pro2113Ala) c.4324C>G (p.Pro1442Ala) c.3874C>G (p.Pro1292Ala) c.3082C>G (p.Pro1028Ala) | |
| 8 | g.60852972C>T | CA4760557 | CHD7 | c.6247C>T (p.Pro2083Ser) c.1717-9257C>T (n.1717-9257C>T) c.6337C>T (p.Pro2113Ser) c.4324C>T (p.Pro1442Ser) c.3874C>T (p.Pro1292Ser) c.3082C>T (p.Pro1028Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852973C>A | CA371324534 | CHD7 | c.6248C>A (p.Pro2083Gln) c.1717-9256C>A (n.1717-9256C>A) c.6338C>A (p.Pro2113Gln) c.4325C>A (p.Pro1442Gln) c.3875C>A (p.Pro1292Gln) c.3083C>A (p.Pro1028Gln) | |
| 8 | g.60852973C= | CA1788103098 | CHD7 | c.6248C= (p.Pro2083=) c.1717-9256C= (n.1717-9256C=) c.6338C= (p.Pro2113=) c.4325C= (p.Pro1442=) c.3875C= (p.Pro1292=) c.3083C= (p.Pro1028=) | |
| 8 | g.60852973C>G | CA371324536 | CHD7 | c.6248C>G (p.Pro2083Arg) c.1717-9256C>G (n.1717-9256C>G) c.6338C>G (p.Pro2113Arg) c.4325C>G (p.Pro1442Arg) c.3875C>G (p.Pro1292Arg) c.3083C>G (p.Pro1028Arg) | |
| 8 | g.60852973C>T | CA4760558 | CHD7 | c.6248C>T (p.Pro2083Leu) c.1717-9256C>T (n.1717-9256C>T) c.6338C>T (p.Pro2113Leu) c.4325C>T (p.Pro1442Leu) c.3875C>T (p.Pro1292Leu) c.3083C>T (p.Pro1028Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852974A>C | CA461105144 | CHD7 | c.6249A>C (p.Pro2083=) c.1717-9255A>C (n.1717-9255A>C) c.6339A>C (p.Pro2113=) c.4326A>C (p.Pro1442=) c.3876A>C (p.Pro1292=) c.3084A>C (p.Pro1028=) | |
| 8 | g.60852974A>G | CA461105145 | CHD7 | c.6249A>G (p.Pro2083=) c.1717-9255A>G (n.1717-9255A>G) c.6339A>G (p.Pro2113=) c.4326A>G (p.Pro1442=) c.3876A>G (p.Pro1292=) c.3084A>G (p.Pro1028=) | gnomAD v4 |
| 8 | g.60852974A>T | CA461105146 | CHD7 | c.6249A>T (p.Pro2083=) c.1717-9255A>T (n.1717-9255A>T) c.6339A>T (p.Pro2113=) c.4326A>T (p.Pro1442=) c.3876A>T (p.Pro1292=) c.3084A>T (p.Pro1028=) | |
| 8 | g.60852975A= | CA1788103117 | CHD7 | c.6250A= (p.Ser2084=) c.1717-9254A= (n.1717-9254A=) c.6340A= (p.Ser2114=) c.4327A= (p.Ser1443=) c.3877A= (p.Ser1293=) c.3085A= (p.Ser1029=) | |
| 8 | g.60852975A>C | CA371324542 | CHD7 | c.6250A>C (p.Ser2084Arg) c.1717-9254A>C (n.1717-9254A>C) c.6340A>C (p.Ser2114Arg) c.4327A>C (p.Ser1443Arg) c.3877A>C (p.Ser1293Arg) c.3085A>C (p.Ser1029Arg) | |
| 8 | g.60852975A>G | CA271325 | CHD7 | c.6250A>G (p.Ser2084Gly) c.1717-9254A>G (n.1717-9254A>G) c.6340A>G (p.Ser2114Gly) c.4327A>G (p.Ser1443Gly) c.3877A>G (p.Ser1293Gly) c.3085A>G (p.Ser1029Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852975A>T | CA371324539 | CHD7 | c.6250A>T (p.Ser2084Cys) c.1717-9254A>T (n.1717-9254A>T) c.6340A>T (p.Ser2114Cys) c.4327A>T (p.Ser1443Cys) c.3877A>T (p.Ser1293Cys) c.3085A>T (p.Ser1029Cys) | |
| 8 | g.60852976G>A | CA177354058 | CHD7 | c.6251G>A (p.Ser2084Asn) c.1717-9253G>A (n.1717-9253G>A) c.6341G>A (p.Ser2114Asn) c.4328G>A (p.Ser1443Asn) c.3878G>A (p.Ser1293Asn) c.3086G>A (p.Ser1029Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852976G>C | CA371324543 | CHD7 | c.6251G>C (p.Ser2084Thr) c.1717-9253G>C (n.1717-9253G>C) c.6341G>C (p.Ser2114Thr) c.4328G>C (p.Ser1443Thr) c.3878G>C (p.Ser1293Thr) c.3086G>C (p.Ser1029Thr) | |
| 8 | g.60852976G= | CA1788103139 | CHD7 | c.6251G= (p.Ser2084=) c.1717-9253G= (n.1717-9253G=) c.6341G= (p.Ser2114=) c.4328G= (p.Ser1443=) c.3878G= (p.Ser1293=) c.3086G= (p.Ser1029=) | |
| 8 | g.60852976G>T | CA371324544 | CHD7 | c.6251G>T (p.Ser2084Ile) c.1717-9253G>T (n.1717-9253G>T) c.6341G>T (p.Ser2114Ile) c.4328G>T (p.Ser1443Ile) c.3878G>T (p.Ser1293Ile) c.3086G>T (p.Ser1029Ile) | |
| 8 | g.60852977C>A | CA371324546 | CHD7 | c.6252C>A (p.Ser2084Arg) c.1717-9252C>A (n.1717-9252C>A) c.6342C>A (p.Ser2114Arg) c.4329C>A (p.Ser1443Arg) c.3879C>A (p.Ser1293Arg) c.3087C>A (p.Ser1029Arg) | |
| 8 | g.60852977C>G | CA371324547 | CHD7 | c.6252C>G (p.Ser2084Arg) c.1717-9252C>G (n.1717-9252C>G) c.6342C>G (p.Ser2114Arg) c.4329C>G (p.Ser1443Arg) c.3879C>G (p.Ser1293Arg) c.3087C>G (p.Ser1029Arg) | gnomAD v4 |
| 8 | g.60852977C>T | CA461105148 | CHD7 | c.6252C>T (p.Ser2084=) c.1717-9252C>T (n.1717-9252C>T) c.6342C>T (p.Ser2114=) c.4329C>T (p.Ser1443=) c.3879C>T (p.Ser1293=) c.3087C>T (p.Ser1029=) | |
| 8 | g.60852978T>A | CA371324549 | CHD7 | c.6253T>A (p.Leu2085Met) c.1717-9251T>A (n.1717-9251T>A) c.6343T>A (p.Leu2115Met) c.4330T>A (p.Leu1444Met) c.3880T>A (p.Leu1294Met) c.3088T>A (p.Leu1030Met) | |
| 8 | g.60852978T>C | CA461105149 | CHD7 | c.6253T>C (p.Leu2085=) c.1717-9251T>C (n.1717-9251T>C) c.6343T>C (p.Leu2115=) c.4330T>C (p.Leu1444=) c.3880T>C (p.Leu1294=) c.3088T>C (p.Leu1030=) | |
| 8 | g.60852978T>G | CA371324554 | CHD7 | c.6253T>G (p.Leu2085Val) c.1717-9251T>G (n.1717-9251T>G) c.6343T>G (p.Leu2115Val) c.4330T>G (p.Leu1444Val) c.3880T>G (p.Leu1294Val) c.3088T>G (p.Leu1030Val) | gnomAD v4 |
| 8 | g.60852979T>A | CA371324556 | CHD7 | c.6254T>A (p.Leu2085Ter) c.1717-9250T>A (n.1717-9250T>A) c.6344T>A (p.Leu2115Ter) c.4331T>A (p.Leu1444Ter) c.3881T>A (p.Leu1294Ter) c.3089T>A (p.Leu1030Ter) | |
| 8 | g.60852979T>C | CA371324557 | CHD7 | c.6254T>C (p.Leu2085Ser) c.1717-9250T>C (n.1717-9250T>C) c.6344T>C (p.Leu2115Ser) c.4331T>C (p.Leu1444Ser) c.3881T>C (p.Leu1294Ser) c.3089T>C (p.Leu1030Ser) | |
| 8 | g.60852979T>G | CA371324558 | CHD7 | c.6254T>G (p.Leu2085Trp) c.1717-9250T>G (n.1717-9250T>G) c.6344T>G (p.Leu2115Trp) c.4331T>G (p.Leu1444Trp) c.3881T>G (p.Leu1294Trp) c.3089T>G (p.Leu1030Trp) | |
| 8 | g.60852980G>A | CA461105150 | CHD7 | c.6255G>A (p.Leu2085=) c.1717-9249G>A (n.1717-9249G>A) c.6345G>A (p.Leu2115=) c.4332G>A (p.Leu1444=) c.3882G>A (p.Leu1294=) c.3090G>A (p.Leu1030=) | |
| 8 | g.60852980G>C | CA371324560 | CHD7 | c.6255G>C (p.Leu2085Phe) c.1717-9249G>C (n.1717-9249G>C) c.6345G>C (p.Leu2115Phe) c.4332G>C (p.Leu1444Phe) c.3882G>C (p.Leu1294Phe) c.3090G>C (p.Leu1030Phe) | |
| 8 | g.60852980G= | CA1788103144 | CHD7 | c.6255G= (p.Leu2085=) c.1717-9249G= (n.1717-9249G=) c.6345G= (p.Leu2115=) c.4332G= (p.Leu1444=) c.3882G= (p.Leu1294=) c.3090G= (p.Leu1030=) | |
| 8 | g.60852980G>T | CA4760559 | CHD7 | c.6255G>T (p.Leu2085Phe) c.1717-9249G>T (n.1717-9249G>T) c.6345G>T (p.Leu2115Phe) c.4332G>T (p.Leu1444Phe) c.3882G>T (p.Leu1294Phe) c.3090G>T (p.Leu1030Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852981G>A | CA371324565 | CHD7 | c.6256G>A (p.Asp2086Asn) c.1717-9248G>A (n.1717-9248G>A) c.6346G>A (p.Asp2116Asn) c.4333G>A (p.Asp1445Asn) c.3883G>A (p.Asp1295Asn) c.3091G>A (p.Asp1031Asn) | |
| 8 | g.60852981G>C | CA371324563 | CHD7 | c.6256G>C (p.Asp2086His) c.1717-9248G>C (n.1717-9248G>C) c.6346G>C (p.Asp2116His) c.4333G>C (p.Asp1445His) c.3883G>C (p.Asp1295His) c.3091G>C (p.Asp1031His) | |
| 8 | g.60852981G>T | CA371324562 | CHD7 | c.6256G>T (p.Asp2086Tyr) c.1717-9248G>T (n.1717-9248G>T) c.6346G>T (p.Asp2116Tyr) c.4333G>T (p.Asp1445Tyr) c.3883G>T (p.Asp1295Tyr) c.3091G>T (p.Asp1031Tyr) | |
| 8 | g.60852982A= | CA1788103153 | CHD7 | c.6257A= (p.Asp2086=) c.1717-9247A= (n.1717-9247A=) c.6347A= (p.Asp2116=) c.4334A= (p.Asp1445=) c.3884A= (p.Asp1295=) c.3092A= (p.Asp1031=) | |
| 8 | g.60852982A>C | CA371324569 | CHD7 | c.6257A>C (p.Asp2086Ala) c.1717-9247A>C (n.1717-9247A>C) c.6347A>C (p.Asp2116Ala) c.4334A>C (p.Asp1445Ala) c.3884A>C (p.Asp1295Ala) c.3092A>C (p.Asp1031Ala) | |
| 8 | g.60852982A>G | CA371324567 | CHD7 | c.6257A>G (p.Asp2086Gly) c.1717-9247A>G (n.1717-9247A>G) c.6347A>G (p.Asp2116Gly) c.4334A>G (p.Asp1445Gly) c.3884A>G (p.Asp1295Gly) c.3092A>G (p.Asp1031Gly) | |
| 8 | g.60852982A>T | CA4760560 | CHD7 | c.6257A>T (p.Asp2086Val) c.1717-9247A>T (n.1717-9247A>T) c.6347A>T (p.Asp2116Val) c.4334A>T (p.Asp1445Val) c.3884A>T (p.Asp1295Val) c.3092A>T (p.Asp1031Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852982_60852983del | CA2579173707 | CHD7 | c.6257_6258del (p.Asp2086AlafsTer11) c.1717-9247_1717-9246del (n.1717-9247_1717-9246del) c.6347_6348del (p.Asp2116AlafsTer11) c.4334_4335del (p.Asp1445AlafsTer11) c.3884_3885del (p.Asp1295AlafsTer11) c.3092_3093del (p.Asp1031AlafsTer11) | |
| 8 | g.60852983T>A | CA371324571 | CHD7 | c.6258T>A (p.Asp2086Glu) c.1717-9246T>A (n.1717-9246T>A) c.6348T>A (p.Asp2116Glu) c.4335T>A (p.Asp1445Glu) c.3885T>A (p.Asp1295Glu) c.3093T>A (p.Asp1031Glu) | gnomAD v4 |
| 8 | g.60852983T>C | CA461105152 | CHD7 | c.6258T>C (p.Asp2086=) c.1717-9246T>C (n.1717-9246T>C) c.6348T>C (p.Asp2116=) c.4335T>C (p.Asp1445=) c.3885T>C (p.Asp1295=) c.3093T>C (p.Asp1031=) | |
| 8 | g.60852983T>G | CA371324573 | CHD7 | c.6258T>G (p.Asp2086Glu) c.1717-9246T>G (n.1717-9246T>G) c.6348T>G (p.Asp2116Glu) c.4335T>G (p.Asp1445Glu) c.3885T>G (p.Asp1295Glu) c.3093T>G (p.Asp1031Glu) | |
| 8 | g.60852984C>A | CA371324574 | CHD7 | c.6259C>A (p.Leu2087Met) c.1717-9245C>A (n.1717-9245C>A) c.6349C>A (p.Leu2117Met) c.4336C>A (p.Leu1446Met) c.3886C>A (p.Leu1296Met) c.3094C>A (p.Leu1032Met) | ClinVar gnomAD v4 |
| 8 | g.60852984C>G | CA371324576 | CHD7 | c.6259C>G (p.Leu2087Val) c.1717-9245C>G (n.1717-9245C>G) c.6349C>G (p.Leu2117Val) c.4336C>G (p.Leu1446Val) c.3886C>G (p.Leu1296Val) c.3094C>G (p.Leu1032Val) | |
| 8 | g.60852984C>T | CA461105153 | CHD7 | c.6259C>T (p.Leu2087=) c.1717-9245C>T (n.1717-9245C>T) c.6349C>T (p.Leu2117=) c.4336C>T (p.Leu1446=) c.3886C>T (p.Leu1296=) c.3094C>T (p.Leu1032=) | |
| 8 | g.60852985T>A | CA371324577 | CHD7 | c.6260T>A (p.Leu2087Gln) c.1717-9244T>A (n.1717-9244T>A) c.6350T>A (p.Leu2117Gln) c.4337T>A (p.Leu1446Gln) c.3887T>A (p.Leu1296Gln) c.3095T>A (p.Leu1032Gln) | |
| 8 | g.60852985T>C | CA371324578 | CHD7 | c.6260T>C (p.Leu2087Pro) c.1717-9244T>C (n.1717-9244T>C) c.6350T>C (p.Leu2117Pro) c.4337T>C (p.Leu1446Pro) c.3887T>C (p.Leu1296Pro) c.3095T>C (p.Leu1032Pro) | |
| 8 | g.60852985T>G | CA371324580 | CHD7 | c.6260T>G (p.Leu2087Arg) c.1717-9244T>G (n.1717-9244T>G) c.6350T>G (p.Leu2117Arg) c.4337T>G (p.Leu1446Arg) c.3887T>G (p.Leu1296Arg) c.3095T>G (p.Leu1032Arg) | |
| 8 | g.60852986G>A | CA4760561 | CHD7 | c.6261G>A (p.Leu2087=) c.1717-9243G>A (n.1717-9243G>A) c.6351G>A (p.Leu2117=) c.4338G>A (p.Leu1446=) c.3888G>A (p.Leu1296=) c.3096G>A (p.Leu1032=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852986G>C | CA461105155 | CHD7 | c.6261G>C (p.Leu2087=) c.1717-9243G>C (n.1717-9243G>C) c.6351G>C (p.Leu2117=) c.4338G>C (p.Leu1446=) c.3888G>C (p.Leu1296=) c.3096G>C (p.Leu1032=) | COSMIC |
| 8 | g.60852986G= | CA1788103160 | CHD7 | c.6261G= (p.Leu2087=) c.1717-9243G= (n.1717-9243G=) c.6351G= (p.Leu2117=) c.4338G= (p.Leu1446=) c.3888G= (p.Leu1296=) c.3096G= (p.Leu1032=) | |
| 8 | g.60852986G>T | CA461105156 | CHD7 | c.6261G>T (p.Leu2087=) c.1717-9243G>T (n.1717-9243G>T) c.6351G>T (p.Leu2117=) c.4338G>T (p.Leu1446=) c.3888G>T (p.Leu1296=) c.3096G>T (p.Leu1032=) | |
| 8 | g.60852987C>A | CA371324581 | CHD7 | c.6262C>A (p.Pro2088Thr) c.1717-9242C>A (n.1717-9242C>A) c.6352C>A (p.Pro2118Thr) c.4339C>A (p.Pro1447Thr) c.3889C>A (p.Pro1297Thr) c.3097C>A (p.Pro1033Thr) | |
| 8 | g.60852987C>G | CA371324583 | CHD7 | c.6262C>G (p.Pro2088Ala) c.1717-9242C>G (n.1717-9242C>G) c.6352C>G (p.Pro2118Ala) c.4339C>G (p.Pro1447Ala) c.3889C>G (p.Pro1297Ala) c.3097C>G (p.Pro1033Ala) | |
| 8 | g.60852987C>T | CA371324584 | CHD7 | c.6262C>T (p.Pro2088Ser) c.1717-9242C>T (n.1717-9242C>T) c.6352C>T (p.Pro2118Ser) c.4339C>T (p.Pro1447Ser) c.3889C>T (p.Pro1297Ser) c.3097C>T (p.Pro1033Ser) | |
| 8 | g.60852988C>A | CA371324588 | CHD7 | c.6263C>A (p.Pro2088Gln) c.1717-9241C>A (n.1717-9241C>A) c.6353C>A (p.Pro2118Gln) c.4340C>A (p.Pro1447Gln) c.3890C>A (p.Pro1297Gln) c.3098C>A (p.Pro1033Gln) | |
| 8 | g.60852988C>G | CA371324585 | CHD7 | c.6263C>G (p.Pro2088Arg) c.1717-9241C>G (n.1717-9241C>G) c.6353C>G (p.Pro2118Arg) c.4340C>G (p.Pro1447Arg) c.3890C>G (p.Pro1297Arg) c.3098C>G (p.Pro1033Arg) | |
| 8 | g.60852988C>T | CA371324587 | CHD7 | c.6263C>T (p.Pro2088Leu) c.1717-9241C>T (n.1717-9241C>T) c.6353C>T (p.Pro2118Leu) c.4340C>T (p.Pro1447Leu) c.3890C>T (p.Pro1297Leu) c.3098C>T (p.Pro1033Leu) | |
| 8 | g.60852989A= | CA1788103164 | CHD7 | c.6264A= (p.Pro2088=) c.1717-9240A= (n.1717-9240A=) c.6354A= (p.Pro2118=) c.4341A= (p.Pro1447=) c.3891A= (p.Pro1297=) c.3099A= (p.Pro1033=) | |
| 8 | g.60852989A>C | CA461105158 | CHD7 | c.6264A>C (p.Pro2088=) c.1717-9240A>C (n.1717-9240A>C) c.6354A>C (p.Pro2118=) c.4341A>C (p.Pro1447=) c.3891A>C (p.Pro1297=) c.3099A>C (p.Pro1033=) | |
| 8 | g.60852989A>G | CA4760562 | CHD7 | c.6264A>G (p.Pro2088=) c.1717-9240A>G (n.1717-9240A>G) c.6354A>G (p.Pro2118=) c.4341A>G (p.Pro1447=) c.3891A>G (p.Pro1297=) c.3099A>G (p.Pro1033=) | dbSNP ExAC gnomAD v2 |
| 8 | g.60852989A>T | CA461105157 | CHD7 | c.6264A>T (p.Pro2088=) c.1717-9240A>T (n.1717-9240A>T) c.6354A>T (p.Pro2118=) c.4341A>T (p.Pro1447=) c.3891A>T (p.Pro1297=) c.3099A>T (p.Pro1033=) | |
| 8 | g.60852990G>A | CA371324592 | CHD7 | c.6265G>A (p.Glu2089Lys) c.1717-9239G>A (n.1717-9239G>A) c.6355G>A (p.Glu2119Lys) c.4342G>A (p.Glu1448Lys) c.3892G>A (p.Glu1298Lys) c.3100G>A (p.Glu1034Lys) | |
| 8 | g.60852990G>C | CA371324593 | CHD7 | c.6265G>C (p.Glu2089Gln) c.1717-9239G>C (n.1717-9239G>C) c.6355G>C (p.Glu2119Gln) c.4342G>C (p.Glu1448Gln) c.3892G>C (p.Glu1298Gln) c.3100G>C (p.Glu1034Gln) | |
| 8 | g.60852990G>T | CA371324594 | CHD7 | c.6265G>T (p.Glu2089Ter) c.1717-9239G>T (n.1717-9239G>T) c.6355G>T (p.Glu2119Ter) c.4342G>T (p.Glu1448Ter) c.3892G>T (p.Glu1298Ter) c.3100G>T (p.Glu1034Ter) | |
| 8 | g.60852991A>C | CA371324596 | CHD7 | c.6266A>C (p.Glu2089Ala) c.1717-9238A>C (n.1717-9238A>C) c.6356A>C (p.Glu2119Ala) c.4343A>C (p.Glu1448Ala) c.3893A>C (p.Glu1298Ala) c.3101A>C (p.Glu1034Ala) | |
| 8 | g.60852991A>G | CA371324597 | CHD7 | c.6266A>G (p.Glu2089Gly) c.1717-9238A>G (n.1717-9238A>G) c.6356A>G (p.Glu2119Gly) c.4343A>G (p.Glu1448Gly) c.3893A>G (p.Glu1298Gly) c.3101A>G (p.Glu1034Gly) | |
| 8 | g.60852991A>T | CA371324598 | CHD7 | c.6266A>T (p.Glu2089Val) c.1717-9238A>T (n.1717-9238A>T) c.6356A>T (p.Glu2119Val) c.4343A>T (p.Glu1448Val) c.3893A>T (p.Glu1298Val) c.3101A>T (p.Glu1034Val) | |
| 8 | g.60852992G>A | CA461105160 | CHD7 | c.6267G>A (p.Glu2089=) c.1717-9237G>A (n.1717-9237G>A) c.6357G>A (p.Glu2119=) c.4344G>A (p.Glu1448=) c.3894G>A (p.Glu1298=) c.3102G>A (p.Glu1034=) | |
| 8 | g.60852992G>C | CA371324599 | CHD7 | c.6267G>C (p.Glu2089Asp) c.1717-9237G>C (n.1717-9237G>C) c.6357G>C (p.Glu2119Asp) c.4344G>C (p.Glu1448Asp) c.3894G>C (p.Glu1298Asp) c.3102G>C (p.Glu1034Asp) | |
| 8 | g.60852992G>T | CA371324600 | CHD7 | c.6267G>T (p.Glu2089Asp) c.1717-9237G>T (n.1717-9237G>T) c.6357G>T (p.Glu2119Asp) c.4344G>T (p.Glu1448Asp) c.3894G>T (p.Glu1298Asp) c.3102G>T (p.Glu1034Asp) | |
| 8 | g.60852993T>A | CA371324602 | CHD7 | c.6268T>A (p.Trp2090Arg) c.1717-9236T>A (n.1717-9236T>A) c.6358T>A (p.Trp2120Arg) c.4345T>A (p.Trp1449Arg) c.3895T>A (p.Trp1299Arg) c.3103T>A (p.Trp1035Arg) | |
| 8 | g.60852993T>C | CA371324604 | CHD7 | c.6268T>C (p.Trp2090Arg) c.1717-9236T>C (n.1717-9236T>C) c.6358T>C (p.Trp2120Arg) c.4345T>C (p.Trp1449Arg) c.3895T>C (p.Trp1299Arg) c.3103T>C (p.Trp1035Arg) | |
| 8 | g.60852993T>G | CA371324605 | CHD7 | c.6268T>G (p.Trp2090Gly) c.1717-9236T>G (n.1717-9236T>G) c.6358T>G (p.Trp2120Gly) c.4345T>G (p.Trp1449Gly) c.3895T>G (p.Trp1299Gly) c.3103T>G (p.Trp1035Gly) | |
| 8 | g.60852993dup | CA2695209414 | CHD7 | c.6268dup (p.Trp2090LeufsTer8) c.1717-9236dup (n.1717-9236dup) c.6358dup (p.Trp2120LeufsTer8) c.4345dup (p.Trp1449LeufsTer8) c.3895dup (p.Trp1299LeufsTer8) c.3103dup (p.Trp1035LeufsTer8) | |
| 8 | g.60852994G>A | CA371324609 | CHD7 | c.6269G>A (p.Trp2090Ter) c.1717-9235G>A (n.1717-9235G>A) c.6359G>A (p.Trp2120Ter) c.4346G>A (p.Trp1449Ter) c.3896G>A (p.Trp1299Ter) c.3104G>A (p.Trp1035Ter) | |
| 8 | g.60852994G>C | CA371324610 | CHD7 | c.6269G>C (p.Trp2090Ser) c.1717-9235G>C (n.1717-9235G>C) c.6359G>C (p.Trp2120Ser) c.4346G>C (p.Trp1449Ser) c.3896G>C (p.Trp1299Ser) c.3104G>C (p.Trp1035Ser) | |
| 8 | g.60852994G>T | CA371324607 | CHD7 | c.6269G>T (p.Trp2090Leu) c.1717-9235G>T (n.1717-9235G>T) c.6359G>T (p.Trp2120Leu) c.4346G>T (p.Trp1449Leu) c.3896G>T (p.Trp1299Leu) c.3104G>T (p.Trp1035Leu) | |
| 8 | g.60852995G>A | CA371324611 | CHD7 | c.6270G>A (p.Trp2090Ter) c.1717-9234G>A (n.1717-9234G>A) c.6360G>A (p.Trp2120Ter) c.4347G>A (p.Trp1449Ter) c.3897G>A (p.Trp1299Ter) c.3105G>A (p.Trp1035Ter) | |
| 8 | g.60852995G>C | CA371324614 | CHD7 | c.6270G>C (p.Trp2090Cys) c.1717-9234G>C (n.1717-9234G>C) c.6360G>C (p.Trp2120Cys) c.4347G>C (p.Trp1449Cys) c.3897G>C (p.Trp1299Cys) c.3105G>C (p.Trp1035Cys) | |
| 8 | g.60852995G>T | CA371324612 | CHD7 | c.6270G>T (p.Trp2090Cys) c.1717-9234G>T (n.1717-9234G>T) c.6360G>T (p.Trp2120Cys) c.4347G>T (p.Trp1449Cys) c.3897G>T (p.Trp1299Cys) c.3105G>T (p.Trp1035Cys) | |
| 8 | g.60852996T>A | CA371324615 | CHD7 | c.6271T>A (p.Trp2091Arg) c.1717-9233T>A (n.1717-9233T>A) c.6361T>A (p.Trp2121Arg) c.4348T>A (p.Trp1450Arg) c.3898T>A (p.Trp1300Arg) c.3106T>A (p.Trp1036Arg) | |
| 8 | g.60852996T>C | CA371324621 | CHD7 | c.6271T>C (p.Trp2091Arg) c.1717-9233T>C (n.1717-9233T>C) c.6361T>C (p.Trp2121Arg) c.4348T>C (p.Trp1450Arg) c.3898T>C (p.Trp1300Arg) c.3106T>C (p.Trp1036Arg) | |
| 8 | g.60852996T>G | CA371324617 | CHD7 | c.6271T>G (p.Trp2091Gly) c.1717-9233T>G (n.1717-9233T>G) c.6361T>G (p.Trp2121Gly) c.4348T>G (p.Trp1450Gly) c.3898T>G (p.Trp1300Gly) c.3106T>G (p.Trp1036Gly) | |
| 8 | g.60852997G>A | CA371324623 | CHD7 | c.6272G>A (p.Trp2091Ter) c.1717-9232G>A (n.1717-9232G>A) c.6362G>A (p.Trp2121Ter) c.4349G>A (p.Trp1450Ter) c.3899G>A (p.Trp1300Ter) c.3107G>A (p.Trp1036Ter) | ClinVar dbSNP |
| 8 | g.60852997G>C | CA371324624 | CHD7 | c.6272G>C (p.Trp2091Ser) c.1717-9232G>C (n.1717-9232G>C) c.6362G>C (p.Trp2121Ser) c.4349G>C (p.Trp1450Ser) c.3899G>C (p.Trp1300Ser) c.3107G>C (p.Trp1036Ser) | |
| 8 | g.60852997G= | CA1788103168 | CHD7 | c.6272G= (p.Trp2091=) c.1717-9232G= (n.1717-9232G=) c.6362G= (p.Trp2121=) c.4349G= (p.Trp1450=) c.3899G= (p.Trp1300=) c.3107G= (p.Trp1036=) | |
| 8 | g.60852997G>T | CA371324625 | CHD7 | c.6272G>T (p.Trp2091Leu) c.1717-9232G>T (n.1717-9232G>T) c.6362G>T (p.Trp2121Leu) c.4349G>T (p.Trp1450Leu) c.3899G>T (p.Trp1300Leu) c.3107G>T (p.Trp1036Leu) | |
| 8 | g.60852998G>A | CA371324627 | CHD7 | c.6273G>A (p.Trp2091Ter) c.1717-9231G>A (n.1717-9231G>A) c.6363G>A (p.Trp2121Ter) c.4350G>A (p.Trp1450Ter) c.3900G>A (p.Trp1300Ter) c.3108G>A (p.Trp1036Ter) | ClinVar |
| 8 | g.60852998G>C | CA371324628 | CHD7 | c.6273G>C (p.Trp2091Cys) c.1717-9231G>C (n.1717-9231G>C) c.6363G>C (p.Trp2121Cys) c.4350G>C (p.Trp1450Cys) c.3900G>C (p.Trp1300Cys) c.3108G>C (p.Trp1036Cys) | |
| 8 | g.60852998G>T | CA371324629 | CHD7 | c.6273G>T (p.Trp2091Cys) c.1717-9231G>T (n.1717-9231G>T) c.6363G>T (p.Trp2121Cys) c.4350G>T (p.Trp1450Cys) c.3900G>T (p.Trp1300Cys) c.3108G>T (p.Trp1036Cys) | ClinVar dbSNP |
| 8 | g.60852999G>A | CA371324631 | CHD7 | c.6274G>A (p.Glu2092Lys) c.1717-9230G>A (n.1717-9230G>A) c.6364G>A (p.Glu2122Lys) c.4351G>A (p.Glu1451Lys) c.3901G>A (p.Glu1301Lys) c.3109G>A (p.Glu1037Lys) | |
| 8 | g.60852999G>C | CA371324632 | CHD7 | c.6274G>C (p.Glu2092Gln) c.1717-9230G>C (n.1717-9230G>C) c.6364G>C (p.Glu2122Gln) c.4351G>C (p.Glu1451Gln) c.3901G>C (p.Glu1301Gln) c.3109G>C (p.Glu1037Gln) | gnomAD v4 |
| 8 | g.60852999G>T | CA371324634 | CHD7 | c.6274G>T (p.Glu2092Ter) c.1717-9230G>T (n.1717-9230G>T) c.6364G>T (p.Glu2122Ter) c.4351G>T (p.Glu1451Ter) c.3901G>T (p.Glu1301Ter) c.3109G>T (p.Glu1037Ter) | |
| 8 | g.60853000A= | CA1788103175 | CHD7 | c.6275A= (p.Glu2092=) c.1717-9229A= (n.1717-9229A=) c.6365A= (p.Glu2122=) c.4352A= (p.Glu1451=) c.3902A= (p.Glu1301=) c.3110A= (p.Glu1037=) | |
| 8 | g.60853000A>C | CA371324638 | CHD7 | c.6275A>C (p.Glu2092Ala) c.1717-9229A>C (n.1717-9229A>C) c.6365A>C (p.Glu2122Ala) c.4352A>C (p.Glu1451Ala) c.3902A>C (p.Glu1301Ala) c.3110A>C (p.Glu1037Ala) | |
| 8 | g.60853000A>G | CA371324637 | CHD7 | c.6275A>G (p.Glu2092Gly) c.1717-9229A>G (n.1717-9229A>G) c.6365A>G (p.Glu2122Gly) c.4352A>G (p.Glu1451Gly) c.3902A>G (p.Glu1301Gly) c.3110A>G (p.Glu1037Gly) | dbSNP |
| 8 | g.60853000A>T | CA371324635 | CHD7 | c.6275A>T (p.Glu2092Val) c.1717-9229A>T (n.1717-9229A>T) c.6365A>T (p.Glu2122Val) c.4352A>T (p.Glu1451Val) c.3902A>T (p.Glu1301Val) c.3110A>T (p.Glu1037Val) | |
| 8 | g.60853001G>A | CA148873 | CHD7 | c.6276G>A (p.Glu2092=) c.1717-9228G>A (n.1717-9228G>A) c.6366G>A (p.Glu2122=) c.4353G>A (p.Glu1451=) c.3903G>A (p.Glu1301=) c.3111G>A (p.Glu1037=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853001G>C | CA371324640 | CHD7 | c.6276G>C (p.Glu2092Asp) c.1717-9228G>C (n.1717-9228G>C) c.6366G>C (p.Glu2122Asp) c.4353G>C (p.Glu1451Asp) c.3903G>C (p.Glu1301Asp) c.3111G>C (p.Glu1037Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60853001G= | CA1788103188 | CHD7 | c.6276G= (p.Glu2092=) c.1717-9228G= (n.1717-9228G=) c.6366G= (p.Glu2122=) c.4353G= (p.Glu1451=) c.3903G= (p.Glu1301=) c.3111G= (p.Glu1037=) | |
| 8 | g.60853001G>T | CA371324642 | CHD7 | c.6276G>T (p.Glu2092Asp) c.1717-9228G>T (n.1717-9228G>T) c.6366G>T (p.Glu2122Asp) c.4353G>T (p.Glu1451Asp) c.3903G>T (p.Glu1301Asp) c.3111G>T (p.Glu1037Asp) | |
| 8 | g.60853002T>A | CA371324644 | CHD7 | c.6277T>A (p.Cys2093Ser) c.1717-9227T>A (n.1717-9227T>A) c.6367T>A (p.Cys2123Ser) c.4354T>A (p.Cys1452Ser) c.3904T>A (p.Cys1302Ser) c.3112T>A (p.Cys1038Ser) | |
| 8 | g.60853002T>C | CA371324645 | CHD7 | c.6277T>C (p.Cys2093Arg) c.1717-9227T>C (n.1717-9227T>C) c.6367T>C (p.Cys2123Arg) c.4354T>C (p.Cys1452Arg) c.3904T>C (p.Cys1302Arg) c.3112T>C (p.Cys1038Arg) | |
| 8 | g.60853002T>G | CA371324649 | CHD7 | c.6277T>G (p.Cys2093Gly) c.1717-9227T>G (n.1717-9227T>G) c.6367T>G (p.Cys2123Gly) c.4354T>G (p.Cys1452Gly) c.3904T>G (p.Cys1302Gly) c.3112T>G (p.Cys1038Gly) | dbSNP |
| 8 | g.60853002T= | CA1788103197 | CHD7 | c.6277T= (p.Cys2093=) c.1717-9227T= (n.1717-9227T=) c.6367T= (p.Cys2123=) c.4354T= (p.Cys1452=) c.3904T= (p.Cys1302=) c.3112T= (p.Cys1038=) | |
| 8 | g.60853003G>A | CA4760563 | CHD7 | c.6278G>A (p.Cys2093Tyr) c.1717-9226G>A (n.1717-9226G>A) c.6368G>A (p.Cys2123Tyr) c.4355G>A (p.Cys1452Tyr) c.3905G>A (p.Cys1302Tyr) c.3113G>A (p.Cys1038Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853003G>C | CA371324651 | CHD7 | c.6278G>C (p.Cys2093Ser) c.1717-9226G>C (n.1717-9226G>C) c.6368G>C (p.Cys2123Ser) c.4355G>C (p.Cys1452Ser) c.3905G>C (p.Cys1302Ser) c.3113G>C (p.Cys1038Ser) | |
| 8 | g.60853003G= | CA1788103207 | CHD7 | c.6278G= (p.Cys2093=) c.1717-9226G= (n.1717-9226G=) c.6368G= (p.Cys2123=) c.4355G= (p.Cys1452=) c.3905G= (p.Cys1302=) c.3113G= (p.Cys1038=) | |
| 8 | g.60853003G>T | CA371324653 | CHD7 | c.6278G>T (p.Cys2093Phe) c.1717-9226G>T (n.1717-9226G>T) c.6368G>T (p.Cys2123Phe) c.4355G>T (p.Cys1452Phe) c.3905G>T (p.Cys1302Phe) c.3113G>T (p.Cys1038Phe) | |
| 8 | g.60853004T>A | CA371324654 | CHD7 | c.6279T>A (p.Cys2093Ter) c.1717-9225T>A (n.1717-9225T>A) c.6369T>A (p.Cys2123Ter) c.4356T>A (p.Cys1452Ter) c.3906T>A (p.Cys1302Ter) c.3114T>A (p.Cys1038Ter) | |
| 8 | g.60853004T>C | CA461105165 | CHD7 | c.6279T>C (p.Cys2093=) c.1717-9225T>C (n.1717-9225T>C) c.6369T>C (p.Cys2123=) c.4356T>C (p.Cys1452=) c.3906T>C (p.Cys1302=) c.3114T>C (p.Cys1038=) | |
| 8 | g.60853004T>G | CA371324655 | CHD7 | c.6279T>G (p.Cys2093Trp) c.1717-9225T>G (n.1717-9225T>G) c.6369T>G (p.Cys2123Trp) c.4356T>G (p.Cys1452Trp) c.3906T>G (p.Cys1302Trp) c.3114T>G (p.Cys1038Trp) | |
| 8 | g.60853005G>A | CA371324658 | CHD7 | c.6280G>A (p.Gly2094Arg) c.1717-9224G>A (n.1717-9224G>A) c.6370G>A (p.Gly2124Arg) c.4357G>A (p.Gly1453Arg) c.3907G>A (p.Gly1303Arg) c.3115G>A (p.Gly1039Arg) | |
| 8 | g.60853005G>C | CA371324659 | CHD7 | c.6280G>C (p.Gly2094Arg) c.1717-9224G>C (n.1717-9224G>C) c.6370G>C (p.Gly2124Arg) c.4357G>C (p.Gly1453Arg) c.3907G>C (p.Gly1303Arg) c.3115G>C (p.Gly1039Arg) | |
| 8 | g.60853005G>T | CA371324656 | CHD7 | c.6280G>T (p.Gly2094Ter) c.1717-9224G>T (n.1717-9224G>T) c.6370G>T (p.Gly2124Ter) c.4357G>T (p.Gly1453Ter) c.3907G>T (p.Gly1303Ter) c.3115G>T (p.Gly1039Ter) | |
| 8 | g.60853006G>A | CA371324660 | CHD7 | c.6281G>A (p.Gly2094Glu) c.1717-9223G>A (n.1717-9223G>A) c.6371G>A (p.Gly2124Glu) c.4358G>A (p.Gly1453Glu) c.3908G>A (p.Gly1303Glu) c.3116G>A (p.Gly1039Glu) | dbSNP |
| 8 | g.60853006G>C | CA371324662 | CHD7 | c.6281G>C (p.Gly2094Ala) c.1717-9223G>C (n.1717-9223G>C) c.6371G>C (p.Gly2124Ala) c.4358G>C (p.Gly1453Ala) c.3908G>C (p.Gly1303Ala) c.3116G>C (p.Gly1039Ala) | |
| 8 | g.60853006G>T | CA371324663 | CHD7 | c.6281G>T (p.Gly2094Val) c.1717-9223G>T (n.1717-9223G>T) c.6371G>T (p.Gly2124Val) c.4358G>T (p.Gly1453Val) c.3908G>T (p.Gly1303Val) c.3116G>T (p.Gly1039Val) | gnomAD v4 |
| 8 | g.60853006_60853007insTAA | CA2780535020 | CHD7 | c.6281_6282insTAA (p.Gly2094_Arg2095insLys) c.1717-9223_1717-9222insTAA (n.1717-9223_1717-9222insTAA) c.6371_6372insTAA (p.Gly2124_Arg2125insLys) c.4358_4359insTAA (p.Gly1453_Arg1454insLys) c.3908_3909insTAA (p.Gly1303_Arg1304insLys) c.3116_3117insTAA (p.Gly1039_Arg1040insLys) | |
| 8 | g.60853007A= | CA1788103236 | CHD7 | c.6282A= (p.Gly2094=) c.1717-9222A= (n.1717-9222A=) c.6372A= (p.Gly2124=) c.4359A= (p.Gly1453=) c.3909A= (p.Gly1303=) c.3117A= (p.Gly1039=) | |
| 8 | g.60853007A>C | CA461105166 | CHD7 | c.6282A>C (p.Gly2094=) c.1717-9222A>C (n.1717-9222A>C) c.6372A>C (p.Gly2124=) c.4359A>C (p.Gly1453=) c.3909A>C (p.Gly1303=) c.3117A>C (p.Gly1039=) | |
| 8 | g.60853007A>G | CA148876 | CHD7 | c.6282A>G (p.Gly2094=) c.1717-9222A>G (n.1717-9222A>G) c.6372A>G (p.Gly2124=) c.4359A>G (p.Gly1453=) c.3909A>G (p.Gly1303=) c.3117A>G (p.Gly1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853007A>T | CA461105167 | CHD7 | c.6282A>T (p.Gly2094=) c.1717-9222A>T (n.1717-9222A>T) c.6372A>T (p.Gly2124=) c.4359A>T (p.Gly1453=) c.3909A>T (p.Gly1303=) c.3117A>T (p.Gly1039=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60853008C>A | CA461105170 | CHD7 | c.6283C>A (p.Arg2095=) c.1717-9221C>A (n.1717-9221C>A) c.6373C>A (p.Arg2125=) c.4360C>A (p.Arg1454=) c.3910C>A (p.Arg1304=) c.3118C>A (p.Arg1040=) | |
| 8 | g.60853008C= | CA1788103244 | CHD7 | c.6283C= (p.Arg2095=) c.1717-9221C= (n.1717-9221C=) c.6373C= (p.Arg2125=) c.4360C= (p.Arg1454=) c.3910C= (p.Arg1304=) c.3118C= (p.Arg1040=) | |
| 8 | g.60853008C>G | CA371324665 | CHD7 | c.6283C>G (p.Arg2095Gly) c.1717-9221C>G (n.1717-9221C>G) c.6373C>G (p.Arg2125Gly) c.4360C>G (p.Arg1454Gly) c.3910C>G (p.Arg1304Gly) c.3118C>G (p.Arg1040Gly) | |
| 8 | g.60853008C>T | CA4760564 | CHD7 | c.6283C>T (p.Arg2095Trp) c.1717-9221C>T (n.1717-9221C>T) c.6373C>T (p.Arg2125Trp) c.4360C>T (p.Arg1454Trp) c.3910C>T (p.Arg1304Trp) c.3118C>T (p.Arg1040Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60853009_60853011del | CA2780535028 | CHD7 | c.6284_6286del (p.Arg2095del) c.1717-9220_1717-9218del (n.1717-9220_1717-9218del) c.6374_6376del (p.Arg2125del) c.4361_4363del (p.Arg1454del) c.3911_3913del (p.Arg1304del) c.3119_3121del (p.Arg1040del) | |
| 8 | g.60853009G>A | CA4760565 | CHD7 | c.6284G>A (p.Arg2095Gln) c.1717-9220G>A (n.1717-9220G>A) c.6374G>A (p.Arg2125Gln) c.4361G>A (p.Arg1454Gln) c.3911G>A (p.Arg1304Gln) c.3119G>A (p.Arg1040Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853009G>C | CA371324668 | CHD7 | c.6284G>C (p.Arg2095Pro) c.1717-9220G>C (n.1717-9220G>C) c.6374G>C (p.Arg2125Pro) c.4361G>C (p.Arg1454Pro) c.3911G>C (p.Arg1304Pro) c.3119G>C (p.Arg1040Pro) | |
| 8 | g.60853009G= | CA1788103251 | CHD7 | c.6284G= (p.Arg2095=) c.1717-9220G= (n.1717-9220G=) c.6374G= (p.Arg2125=) c.4361G= (p.Arg1454=) c.3911G= (p.Arg1304=) c.3119G= (p.Arg1040=) | |
| 8 | g.60853009G>T | CA371324670 | CHD7 | c.6284G>T (p.Arg2095Leu) c.1717-9220G>T (n.1717-9220G>T) c.6374G>T (p.Arg2125Leu) c.4361G>T (p.Arg1454Leu) c.3911G>T (p.Arg1304Leu) c.3119G>T (p.Arg1040Leu) | |
| 8 | g.60853010G>A | CA461105171 | CHD7 | c.6285G>A (p.Arg2095=) c.1717-9219G>A (n.1717-9219G>A) c.6375G>A (p.Arg2125=) c.4362G>A (p.Arg1454=) c.3912G>A (p.Arg1304=) c.3120G>A (p.Arg1040=) | gnomAD v4 |
| 8 | g.60853010G>C | CA461105173 | CHD7 | c.6285G>C (p.Arg2095=) c.1717-9219G>C (n.1717-9219G>C) c.6375G>C (p.Arg2125=) c.4362G>C (p.Arg1454=) c.3912G>C (p.Arg1304=) c.3120G>C (p.Arg1040=) | |
| 8 | g.60853010G= | CA1788103258 | CHD7 | c.6285G= (p.Arg2095=) c.1717-9219G= (n.1717-9219G=) c.6375G= (p.Arg2125=) c.4362G= (p.Arg1454=) c.3912G= (p.Arg1304=) c.3120G= (p.Arg1040=) | |
| 8 | g.60853010G>T | CA461105172 | CHD7 | c.6285G>T (p.Arg2095=) c.1717-9219G>T (n.1717-9219G>T) c.6375G>T (p.Arg2125=) c.4362G>T (p.Arg1454=) c.3912G>T (p.Arg1304=) c.3120G>T (p.Arg1040=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853011C>A | CA371324671 | CHD7 | c.6286C>A (p.His2096Asn) c.1717-9218C>A (n.1717-9218C>A) c.6376C>A (p.His2126Asn) c.4363C>A (p.His1455Asn) c.3913C>A (p.His1305Asn) c.3121C>A (p.His1041Asn) | |
| 8 | g.60853011C= | CA1788103261 | CHD7 | c.6286C= (p.His2096=) c.1717-9218C= (n.1717-9218C=) c.6376C= (p.His2126=) c.4363C= (p.His1455=) c.3913C= (p.His1305=) c.3121C= (p.His1041=) | |
| 8 | g.60853011C>G | CA371324673 | CHD7 | c.6286C>G (p.His2096Asp) c.1717-9218C>G (n.1717-9218C>G) c.6376C>G (p.His2126Asp) c.4363C>G (p.His1455Asp) c.3913C>G (p.His1305Asp) c.3121C>G (p.His1041Asp) | |
| 8 | g.60853011C>T | CA4760566 | CHD7 | c.6286C>T (p.His2096Tyr) c.1717-9218C>T (n.1717-9218C>T) c.6376C>T (p.His2126Tyr) c.4363C>T (p.His1455Tyr) c.3913C>T (p.His1305Tyr) c.3121C>T (p.His1041Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853012A= | CA1788103270 | CHD7 | c.6287A= (p.His2096=) c.1717-9217A= (n.1717-9217A=) c.6377A= (p.His2126=) c.4364A= (p.His1455=) c.3914A= (p.His1305=) c.3122A= (p.His1041=) | |
| 8 | g.60853012A>C | CA371324675 | CHD7 | c.6287A>C (p.His2096Pro) c.1717-9217A>C (n.1717-9217A>C) c.6377A>C (p.His2126Pro) c.4364A>C (p.His1455Pro) c.3914A>C (p.His1305Pro) c.3122A>C (p.His1041Pro) | |
| 8 | g.60853012A>G | CA271328 | CHD7 | c.6287A>G (p.His2096Arg) c.1717-9217A>G (n.1717-9217A>G) c.6377A>G (p.His2126Arg) c.4364A>G (p.His1455Arg) c.3914A>G (p.His1305Arg) c.3122A>G (p.His1041Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853012A>T | CA371324674 | CHD7 | c.6287A>T (p.His2096Leu) c.1717-9217A>T (n.1717-9217A>T) c.6377A>T (p.His2126Leu) c.4364A>T (p.His1455Leu) c.3914A>T (p.His1305Leu) c.3122A>T (p.His1041Leu) | COSMIC |
| 8 | g.60853013T>A | CA371324677 | CHD7 | c.6288T>A (p.His2096Gln) c.1717-9216T>A (n.1717-9216T>A) c.6378T>A (p.His2126Gln) c.4365T>A (p.His1455Gln) c.3915T>A (p.His1305Gln) c.3123T>A (p.His1041Gln) | |
| 8 | g.60853013T>C | CA461105176 | CHD7 | c.6288T>C (p.His2096=) c.1717-9216T>C (n.1717-9216T>C) c.6378T>C (p.His2126=) c.4365T>C (p.His1455=) c.3915T>C (p.His1305=) c.3123T>C (p.His1041=) | |
| 8 | g.60853013T>G | CA371324678 | CHD7 | c.6288T>G (p.His2096Gln) c.1717-9216T>G (n.1717-9216T>G) c.6378T>G (p.His2126Gln) c.4365T>G (p.His1455Gln) c.3915T>G (p.His1305Gln) c.3123T>G (p.His1041Gln) | |
| 8 | g.60853014G>A | CA371324680 | CHD7 | c.6289G>A (p.Asp2097Asn) c.1717-9215G>A (n.1717-9215G>A) c.6379G>A (p.Asp2127Asn) c.4366G>A (p.Asp1456Asn) c.3916G>A (p.Asp1306Asn) c.3124G>A (p.Asp1042Asn) | gnomAD v4 |
| 8 | g.60853014G>C | CA371324682 | CHD7 | c.6289G>C (p.Asp2097His) c.1717-9215G>C (n.1717-9215G>C) c.6379G>C (p.Asp2127His) c.4366G>C (p.Asp1456His) c.3916G>C (p.Asp1306His) c.3124G>C (p.Asp1042His) | |
| 8 | g.60853014G>T | CA371324685 | CHD7 | c.6289G>T (p.Asp2097Tyr) c.1717-9215G>T (n.1717-9215G>T) c.6379G>T (p.Asp2127Tyr) c.4366G>T (p.Asp1456Tyr) c.3916G>T (p.Asp1306Tyr) c.3124G>T (p.Asp1042Tyr) | |
| 8 | g.60853015A>C | CA371324687 | CHD7 | c.6290A>C (p.Asp2097Ala) c.1717-9214A>C (n.1717-9214A>C) c.6380A>C (p.Asp2127Ala) c.4367A>C (p.Asp1456Ala) c.3917A>C (p.Asp1306Ala) c.3125A>C (p.Asp1042Ala) | |
| 8 | g.60853015A>G | CA371324688 | CHD7 | c.6290A>G (p.Asp2097Gly) c.1717-9214A>G (n.1717-9214A>G) c.6380A>G (p.Asp2127Gly) c.4367A>G (p.Asp1456Gly) c.3917A>G (p.Asp1306Gly) c.3125A>G (p.Asp1042Gly) | |
| 8 | g.60853015A>T | CA371324690 | CHD7 | c.6290A>T (p.Asp2097Val) c.1717-9214A>T (n.1717-9214A>T) c.6380A>T (p.Asp2127Val) c.4367A>T (p.Asp1456Val) c.3917A>T (p.Asp1306Val) c.3125A>T (p.Asp1042Val) | |
| 8 | g.60853015_60853016delinsAC | CA1788103278 | CHD7 | c.6290_6291delinsAC (p.Asp2097=) c.1717-9214_1717-9213delinsAC (n.1717-9214_1717-9213delinsAC) c.6380_6381delinsAC (p.Asp2127=) c.4367_4368delinsAC (p.Asp1456=) c.3917_3918delinsAC (p.Asp1306=) c.3125_3126delinsAC (p.Asp1042=) | |
| 8 | g.60853016C>A | CA371324692 | CHD7 | c.6291C>A (p.Asp2097Glu) c.1717-9213C>A (n.1717-9213C>A) c.6381C>A (p.Asp2127Glu) c.4368C>A (p.Asp1456Glu) c.3918C>A (p.Asp1306Glu) c.3126C>A (p.Asp1042Glu) | |
| 8 | g.60853016C= | CA1788103318 | CHD7 | c.6291C= (p.Asp2097=) c.1717-9213C= (n.1717-9213C=) c.6381C= (p.Asp2127=) c.4368C= (p.Asp1456=) c.3918C= (p.Asp1306=) c.3126C= (p.Asp1042=) | |
| 8 | g.60853016C>G | CA371324693 | CHD7 | c.6291C>G (p.Asp2097Glu) c.1717-9213C>G (n.1717-9213C>G) c.6381C>G (p.Asp2127Glu) c.4368C>G (p.Asp1456Glu) c.3918C>G (p.Asp1306Glu) c.3126C>G (p.Asp1042Glu) | |
| 8 | g.60853016C>T | CA461105178 | CHD7 | c.6291C>T (p.Asp2097=) c.1717-9213C>T (n.1717-9213C>T) c.6381C>T (p.Asp2127=) c.4368C>T (p.Asp1456=) c.3918C>T (p.Asp1306=) c.3126C>T (p.Asp1042=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853017del | CA16609837 | CHD7 | c.6292del (p.Arg2098GlufsTer?) c.1717-9212del (n.1717-9212del) c.6382del (p.Arg2128GlufsTer?) c.4369del (p.Arg1457GlufsTer?) c.3919del (p.Arg1307GlufsTer?) c.3127del (p.Arg1043GlufsTer?) | ClinVar dbSNP |
| 8 | g.60853017C>A | CA461105179 | CHD7 | c.6292C>A (p.Arg2098=) c.1717-9212C>A (n.1717-9212C>A) c.6382C>A (p.Arg2128=) c.4369C>A (p.Arg1457=) c.3919C>A (p.Arg1307=) c.3127C>A (p.Arg1043=) | |
| 8 | g.60853017C= | CA1788103334 | CHD7 | c.6292C= (p.Arg2098=) c.1717-9212C= (n.1717-9212C=) c.6382C= (p.Arg2128=) c.4369C= (p.Arg1457=) c.3919C= (p.Arg1307=) c.3127C= (p.Arg1043=) | |
| 8 | g.60853017C>G | CA371324695 | CHD7 | c.6292C>G (p.Arg2098Gly) c.1717-9212C>G (n.1717-9212C>G) c.6382C>G (p.Arg2128Gly) c.4369C>G (p.Arg1457Gly) c.3919C>G (p.Arg1307Gly) c.3127C>G (p.Arg1043Gly) | |
| 8 | g.60853017C>T | CA10576249 | CHD7 | c.6292C>T (p.Arg2098Ter) c.1717-9212C>T (n.1717-9212C>T) c.6382C>T (p.Arg2128Ter) c.4369C>T (p.Arg1457Ter) c.3919C>T (p.Arg1307Ter) c.3127C>T (p.Arg1043Ter) | ClinVar dbSNP |
| 8 | g.60853018G>A | CA4760567 | CHD7 | c.6293G>A (p.Arg2098Gln) c.1717-9211G>A (n.1717-9211G>A) c.6383G>A (p.Arg2128Gln) c.4370G>A (p.Arg1457Gln) c.3920G>A (p.Arg1307Gln) c.3128G>A (p.Arg1043Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853018G>C | CA371324699 | CHD7 | c.6293G>C (p.Arg2098Pro) c.1717-9211G>C (n.1717-9211G>C) c.6383G>C (p.Arg2128Pro) c.4370G>C (p.Arg1457Pro) c.3920G>C (p.Arg1307Pro) c.3128G>C (p.Arg1043Pro) | |
| 8 | g.60853018G= | CA1788103343 | CHD7 | c.6293G= (p.Arg2098=) c.1717-9211G= (n.1717-9211G=) c.6383G= (p.Arg2128=) c.4370G= (p.Arg1457=) c.3920G= (p.Arg1307=) c.3128G= (p.Arg1043=) | |
| 8 | g.60853018G>T | CA371324698 | CHD7 | c.6293G>T (p.Arg2098Leu) c.1717-9211G>T (n.1717-9211G>T) c.6383G>T (p.Arg2128Leu) c.4370G>T (p.Arg1457Leu) c.3920G>T (p.Arg1307Leu) c.3128G>T (p.Arg1043Leu) | |
| 8 | g.60853019A>C | CA461105182 | CHD7 | c.6294A>C (p.Arg2098=) c.1717-9210A>C (n.1717-9210A>C) c.6384A>C (p.Arg2128=) c.4371A>C (p.Arg1457=) c.3921A>C (p.Arg1307=) c.3129A>C (p.Arg1043=) | gnomAD v4 |
| 8 | g.60853019A>G | CA461105183 | CHD7 | c.6294A>G (p.Arg2098=) c.1717-9210A>G (n.1717-9210A>G) c.6384A>G (p.Arg2128=) c.4371A>G (p.Arg1457=) c.3921A>G (p.Arg1307=) c.3129A>G (p.Arg1043=) | |
| 8 | g.60853019A>T | CA461105184 | CHD7 | c.6294A>T (p.Arg2098=) c.1717-9210A>T (n.1717-9210A>T) c.6384A>T (p.Arg2128=) c.4371A>T (p.Arg1457=) c.3921A>T (p.Arg1307=) c.3129A>T (p.Arg1043=) | |
| 8 | g.60853020G>A | CA371324705 | CHD7 | c.6295G>A (p.Asp2099Asn) c.1717-9209G>A (n.1717-9209G>A) c.6385G>A (p.Asp2129Asn) c.4372G>A (p.Asp1458Asn) c.3922G>A (p.Asp1308Asn) c.3130G>A (p.Asp1044Asn) | |
| 8 | g.60853020G>C | CA371324702 | CHD7 | c.6295G>C (p.Asp2099His) c.1717-9209G>C (n.1717-9209G>C) c.6385G>C (p.Asp2129His) c.4372G>C (p.Asp1458His) c.3922G>C (p.Asp1308His) c.3130G>C (p.Asp1044His) | |
| 8 | g.60853020G>T | CA371324704 | CHD7 | c.6295G>T (p.Asp2099Tyr) c.1717-9209G>T (n.1717-9209G>T) c.6385G>T (p.Asp2129Tyr) c.4372G>T (p.Asp1458Tyr) c.3922G>T (p.Asp1308Tyr) c.3130G>T (p.Asp1044Tyr) |