| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852907T>A | CA371324393 | CHD7 | c.6182T>A (p.Leu2061Gln) c.1717-9322T>A (n.1717-9322T>A) c.6272T>A (p.Leu2091Gln) c.4259T>A (p.Leu1420Gln) c.3809T>A (p.Leu1270Gln) c.3017T>A (p.Leu1006Gln) | |
| 8 | g.60852907T>C | CA371324391 | CHD7 | c.6182T>C (p.Leu2061Pro) c.1717-9322T>C (n.1717-9322T>C) c.6272T>C (p.Leu2091Pro) c.4259T>C (p.Leu1420Pro) c.3809T>C (p.Leu1270Pro) c.3017T>C (p.Leu1006Pro) | |
| 8 | g.60852907T>G | CA371324392 | CHD7 | c.6182T>G (p.Leu2061Arg) c.1717-9322T>G (n.1717-9322T>G) c.6272T>G (p.Leu2091Arg) c.4259T>G (p.Leu1420Arg) c.3809T>G (p.Leu1270Arg) c.3017T>G (p.Leu1006Arg) | |
| 8 | g.60852908A= | CA1788102710 | CHD7 | c.6183A= (p.Leu2061=) c.1717-9321A= (n.1717-9321A=) c.6273A= (p.Leu2091=) c.4260A= (p.Leu1420=) c.3810A= (p.Leu1270=) c.3018A= (p.Leu1006=) | |
| 8 | g.60852908A>C | CA461104982 | CHD7 | c.6183A>C (p.Leu2061=) c.1717-9321A>C (n.1717-9321A>C) c.6273A>C (p.Leu2091=) c.4260A>C (p.Leu1420=) c.3810A>C (p.Leu1270=) c.3018A>C (p.Leu1006=) | |
| 8 | g.60852908A>G | CA461104983 | CHD7 | c.6183A>G (p.Leu2061=) c.1717-9321A>G (n.1717-9321A>G) c.6273A>G (p.Leu2091=) c.4260A>G (p.Leu1420=) c.3810A>G (p.Leu1270=) c.3018A>G (p.Leu1006=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852908A>T | CA461104984 | CHD7 | c.6183A>T (p.Leu2061=) c.1717-9321A>T (n.1717-9321A>T) c.6273A>T (p.Leu2091=) c.4260A>T (p.Leu1420=) c.3810A>T (p.Leu1270=) c.3018A>T (p.Leu1006=) | |
| 8 | g.60852909C>A | CA461104985 | CHD7 | c.6184C>A (p.Arg2062=) c.1717-9320C>A (n.1717-9320C>A) c.6274C>A (p.Arg2092=) c.4261C>A (p.Arg1421=) c.3811C>A (p.Arg1271=) c.3019C>A (p.Arg1007=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852909C= | CA1788102720 | CHD7 | c.6184C= (p.Arg2062=) c.1717-9320C= (n.1717-9320C=) c.6274C= (p.Arg2092=) c.4261C= (p.Arg1421=) c.3811C= (p.Arg1271=) c.3019C= (p.Arg1007=) | |
| 8 | g.60852909C>G | CA371324394 | CHD7 | c.6184C>G (p.Arg2062Gly) c.1717-9320C>G (n.1717-9320C>G) c.6274C>G (p.Arg2092Gly) c.4261C>G (p.Arg1421Gly) c.3811C>G (p.Arg1271Gly) c.3019C>G (p.Arg1007Gly) | |
| 8 | g.60852909C>T | CA10631389 | CHD7 | c.6184C>T (p.Arg2062Trp) c.1717-9320C>T (n.1717-9320C>T) c.6274C>T (p.Arg2092Trp) c.4261C>T (p.Arg1421Trp) c.3811C>T (p.Arg1271Trp) c.3019C>T (p.Arg1007Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852910G>A | CA4760545 | CHD7 | c.6185G>A (p.Arg2062Gln) c.1717-9319G>A (n.1717-9319G>A) c.6275G>A (p.Arg2092Gln) c.4262G>A (p.Arg1421Gln) c.3812G>A (p.Arg1271Gln) c.3020G>A (p.Arg1007Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852910G>C | CA371324395 | CHD7 | c.6185G>C (p.Arg2062Pro) c.1717-9319G>C (n.1717-9319G>C) c.6275G>C (p.Arg2092Pro) c.4262G>C (p.Arg1421Pro) c.3812G>C (p.Arg1271Pro) c.3020G>C (p.Arg1007Pro) | |
| 8 | g.60852910G= | CA1788102737 | CHD7 | c.6185G= (p.Arg2062=) c.1717-9319G= (n.1717-9319G=) c.6275G= (p.Arg2092=) c.4262G= (p.Arg1421=) c.3812G= (p.Arg1271=) c.3020G= (p.Arg1007=) | |
| 8 | g.60852910G>T | CA371324396 | CHD7 | c.6185G>T (p.Arg2062Leu) c.1717-9319G>T (n.1717-9319G>T) c.6275G>T (p.Arg2092Leu) c.4262G>T (p.Arg1421Leu) c.3812G>T (p.Arg1271Leu) c.3020G>T (p.Arg1007Leu) | |
| 8 | g.60852911dup | CA2582341678 | CHD7 | c.6186dup (p.Lys2063GlufsTer17) c.1717-9318dup (n.1717-9318dup) c.6276dup (p.Lys2093GlufsTer17) c.4263dup (p.Lys1422GlufsTer17) c.3813dup (p.Lys1272GlufsTer17) c.3021dup (p.Lys1008GlufsTer17) | ClinVar |
| 8 | g.60852911G>A | CA461104987 | CHD7 | c.6186G>A (p.Arg2062=) c.1717-9318G>A (n.1717-9318G>A) c.6276G>A (p.Arg2092=) c.4263G>A (p.Arg1421=) c.3813G>A (p.Arg1271=) c.3021G>A (p.Arg1007=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852911G>C | CA461104988 | CHD7 | c.6186G>C (p.Arg2062=) c.1717-9318G>C (n.1717-9318G>C) c.6276G>C (p.Arg2092=) c.4263G>C (p.Arg1421=) c.3813G>C (p.Arg1271=) c.3021G>C (p.Arg1007=) | |
| 8 | g.60852911G= | CA1788102743 | CHD7 | c.6186G= (p.Arg2062=) c.1717-9318G= (n.1717-9318G=) c.6276G= (p.Arg2092=) c.4263G= (p.Arg1421=) c.3813G= (p.Arg1271=) c.3021G= (p.Arg1007=) | |
| 8 | g.60852911G>T | CA461104989 | CHD7 | c.6186G>T (p.Arg2062=) c.1717-9318G>T (n.1717-9318G>T) c.6276G>T (p.Arg2092=) c.4263G>T (p.Arg1421=) c.3813G>T (p.Arg1271=) c.3021G>T (p.Arg1007=) | |
| 8 | g.60852912A>C | CA371324397 | CHD7 | c.6187A>C (p.Lys2063Gln) c.1717-9317A>C (n.1717-9317A>C) c.6277A>C (p.Lys2093Gln) c.4264A>C (p.Lys1422Gln) c.3814A>C (p.Lys1272Gln) c.3022A>C (p.Lys1008Gln) | |
| 8 | g.60852912A>G | CA371324398 | CHD7 | c.6187A>G (p.Lys2063Glu) c.1717-9317A>G (n.1717-9317A>G) c.6277A>G (p.Lys2093Glu) c.4264A>G (p.Lys1422Glu) c.3814A>G (p.Lys1272Glu) c.3022A>G (p.Lys1008Glu) | |
| 8 | g.60852912A>T | CA371324399 | CHD7 | c.6187A>T (p.Lys2063Ter) c.1717-9317A>T (n.1717-9317A>T) c.6277A>T (p.Lys2093Ter) c.4264A>T (p.Lys1422Ter) c.3814A>T (p.Lys1272Ter) c.3022A>T (p.Lys1008Ter) | |
| 8 | g.60852913A>C | CA371324400 | CHD7 | c.6188A>C (p.Lys2063Thr) c.1717-9316A>C (n.1717-9316A>C) c.6278A>C (p.Lys2093Thr) c.4265A>C (p.Lys1422Thr) c.3815A>C (p.Lys1272Thr) c.3023A>C (p.Lys1008Thr) | |
| 8 | g.60852913A>G | CA371324401 | CHD7 | c.6188A>G (p.Lys2063Arg) c.1717-9316A>G (n.1717-9316A>G) c.6278A>G (p.Lys2093Arg) c.4265A>G (p.Lys1422Arg) c.3815A>G (p.Lys1272Arg) c.3023A>G (p.Lys1008Arg) | |
| 8 | g.60852913A>T | CA371324402 | CHD7 | c.6188A>T (p.Lys2063Met) c.1717-9316A>T (n.1717-9316A>T) c.6278A>T (p.Lys2093Met) c.4265A>T (p.Lys1422Met) c.3815A>T (p.Lys1272Met) c.3023A>T (p.Lys1008Met) | |
| 8 | g.60852914G>A | CA461104990 | CHD7 | c.6189G>A (p.Lys2063=) c.1717-9315G>A (n.1717-9315G>A) c.6279G>A (p.Lys2093=) c.4266G>A (p.Lys1422=) c.3816G>A (p.Lys1272=) c.3024G>A (p.Lys1008=) | |
| 8 | g.60852914G>C | CA371324403 | CHD7 | c.6189G>C (p.Lys2063Asn) c.1717-9315G>C (n.1717-9315G>C) c.6279G>C (p.Lys2093Asn) c.4266G>C (p.Lys1422Asn) c.3816G>C (p.Lys1272Asn) c.3024G>C (p.Lys1008Asn) | |
| 8 | g.60852914G>T | CA371324404 | CHD7 | c.6189G>T (p.Lys2063Asn) c.1717-9315G>T (n.1717-9315G>T) c.6279G>T (p.Lys2093Asn) c.4266G>T (p.Lys1422Asn) c.3816G>T (p.Lys1272Asn) c.3024G>T (p.Lys1008Asn) | |
| 8 | g.60852915A= | CA1788102750 | CHD7 | c.6190A= (p.Ile2064=) c.1717-9314A= (n.1717-9314A=) c.6280A= (p.Ile2094=) c.4267A= (p.Ile1423=) c.3817A= (p.Ile1273=) c.3025A= (p.Ile1009=) | |
| 8 | g.60852915A>C | CA371324406 | CHD7 | c.6190A>C (p.Ile2064Leu) c.1717-9314A>C (n.1717-9314A>C) c.6280A>C (p.Ile2094Leu) c.4267A>C (p.Ile1423Leu) c.3817A>C (p.Ile1273Leu) c.3025A>C (p.Ile1009Leu) | |
| 8 | g.60852915A>G | CA4760546 | CHD7 | c.6190A>G (p.Ile2064Val) c.1717-9314A>G (n.1717-9314A>G) c.6280A>G (p.Ile2094Val) c.4267A>G (p.Ile1423Val) c.3817A>G (p.Ile1273Val) c.3025A>G (p.Ile1009Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852915A>T | CA371324405 | CHD7 | c.6190A>T (p.Ile2064Phe) c.1717-9314A>T (n.1717-9314A>T) c.6280A>T (p.Ile2094Phe) c.4267A>T (p.Ile1423Phe) c.3817A>T (p.Ile1273Phe) c.3025A>T (p.Ile1009Phe) | |
| 8 | g.60852916T>A | CA371324407 | CHD7 | c.6191T>A (p.Ile2064Asn) c.1717-9313T>A (n.1717-9313T>A) c.6281T>A (p.Ile2094Asn) c.4268T>A (p.Ile1423Asn) c.3818T>A (p.Ile1273Asn) c.3026T>A (p.Ile1009Asn) | |
| 8 | g.60852916T>C | CA371324408 | CHD7 | c.6191T>C (p.Ile2064Thr) c.1717-9313T>C (n.1717-9313T>C) c.6281T>C (p.Ile2094Thr) c.4268T>C (p.Ile1423Thr) c.3818T>C (p.Ile1273Thr) c.3026T>C (p.Ile1009Thr) | |
| 8 | g.60852916T>G | CA371324409 | CHD7 | c.6191T>G (p.Ile2064Ser) c.1717-9313T>G (n.1717-9313T>G) c.6281T>G (p.Ile2094Ser) c.4268T>G (p.Ile1423Ser) c.3818T>G (p.Ile1273Ser) c.3026T>G (p.Ile1009Ser) | |
| 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=) |