| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852917C>A | CA461104995 | CHD7 | c.6192C>A (p.Ile2064=) c.1717-9312C>A (n.1717-9312C>A) c.6282C>A (p.Ile2094=) c.4269C>A (p.Ile1423=) c.3819C>A (p.Ile1273=) c.3027C>A (p.Ile1009=) | |
| 8 | g.60852917C= | CA1788102758 | CHD7 | c.6192C= (p.Ile2064=) c.1717-9312C= (n.1717-9312C=) c.6282C= (p.Ile2094=) c.4269C= (p.Ile1423=) c.3819C= (p.Ile1273=) c.3027C= (p.Ile1009=) | |
| 8 | g.60852917C>G | CA371324410 | CHD7 | c.6192C>G (p.Ile2064Met) c.1717-9312C>G (n.1717-9312C>G) c.6282C>G (p.Ile2094Met) c.4269C>G (p.Ile1423Met) c.3819C>G (p.Ile1273Met) c.3027C>G (p.Ile1009Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852917C>T | CA461104993 | CHD7 | c.6192C>T (p.Ile2064=) c.1717-9312C>T (n.1717-9312C>T) c.6282C>T (p.Ile2094=) c.4269C>T (p.Ile1423=) c.3819C>T (p.Ile1273=) c.3027C>T (p.Ile1009=) | |
| 8 | g.60852918C>A | CA371324411 | CHD7 | c.6193C>A (p.Arg2065Ser) c.1717-9311C>A (n.1717-9311C>A) c.6283C>A (p.Arg2095Ser) c.4270C>A (p.Arg1424Ser) c.3820C>A (p.Arg1274Ser) c.3028C>A (p.Arg1010Ser) | |
| 8 | g.60852918C= | CA1788102771 | CHD7 | c.6193C= (p.Arg2065=) c.1717-9311C= (n.1717-9311C=) c.6283C= (p.Arg2095=) c.4270C= (p.Arg1424=) c.3820C= (p.Arg1274=) c.3028C= (p.Arg1010=) | |
| 8 | g.60852918C>G | CA16618675 | CHD7 | c.6193C>G (p.Arg2065Gly) c.1717-9311C>G (n.1717-9311C>G) c.6283C>G (p.Arg2095Gly) c.4270C>G (p.Arg1424Gly) c.3820C>G (p.Arg1274Gly) c.3028C>G (p.Arg1010Gly) | ClinVar dbSNP |
| 8 | g.60852918C>T | CA371324412 | CHD7 | c.6193C>T (p.Arg2065Cys) c.1717-9311C>T (n.1717-9311C>T) c.6283C>T (p.Arg2095Cys) c.4270C>T (p.Arg1424Cys) c.3820C>T (p.Arg1274Cys) c.3028C>T (p.Arg1010Cys) | ClinVar dbSNP |
| 8 | g.60852919G>A | CA371324413 | CHD7 | c.6194G>A (p.Arg2065His) c.1717-9310G>A (n.1717-9310G>A) c.6284G>A (p.Arg2095His) c.4271G>A (p.Arg1424His) c.3821G>A (p.Arg1274His) c.3029G>A (p.Arg1010His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852919G>C | CA371324415 | CHD7 | c.6194G>C (p.Arg2065Pro) c.1717-9310G>C (n.1717-9310G>C) c.6284G>C (p.Arg2095Pro) c.4271G>C (p.Arg1424Pro) c.3821G>C (p.Arg1274Pro) c.3029G>C (p.Arg1010Pro) | |
| 8 | g.60852919G= | CA1788102791 | CHD7 | c.6194G= (p.Arg2065=) c.1717-9310G= (n.1717-9310G=) c.6284G= (p.Arg2095=) c.4271G= (p.Arg1424=) c.3821G= (p.Arg1274=) c.3029G= (p.Arg1010=) | |
| 8 | g.60852919G>T | CA371324414 | CHD7 | c.6194G>T (p.Arg2065Leu) c.1717-9310G>T (n.1717-9310G>T) c.6284G>T (p.Arg2095Leu) c.4271G>T (p.Arg1424Leu) c.3821G>T (p.Arg1274Leu) c.3029G>T (p.Arg1010Leu) | |
| 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 |