OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60822092_60822120del | CA645557423 | CHD7 | c.2904_2932del (p.Arg969AlafsTer16) c.1717-40137_1717-40109del (n.1717-40137_1717-40109del) c.891_919del (p.Arg298AlafsTer16) c.441_469del (p.Arg148AlafsTer16) | COSMIC |
| 8 | g.60822092_60822094delinsCAG | CA1788143911 | CHD7 | c.2904_2906delinsCAG (p.Leu968=) c.1717-40137_1717-40135delinsCAG (n.1717-40137_1717-40135delinsCAG) c.891_893delinsCAG (p.Leu297=) c.441_443delinsCAG (p.Leu147=) | |
| 8 | g.60822092_60822108delinsCAGGGAATACCAGTTGG | CA1788143913 | CHD7 | c.2904_2920delinsCAGGGAATACCAGTTGG (p.Leu968=) c.1717-40137_1717-40121delinsCAGGGAATACCAGTTGG (n.1717-40137_1717-40121delinsCAGGGAATACCAGTTGG) c.891_907delinsCAGGGAATACCAGTTGG (p.Leu297=) c.441_457delinsCAGGGAATACCAGTTGG (p.Leu147=) | |
| 8 | g.60822093A= | CA1788143925 | CHD7 | c.2905A= (p.Arg969=) c.1717-40136A= (n.1717-40136A=) c.892A= (p.Arg298=) c.442A= (p.Arg148=) | |
| 8 | g.60822093A>C | CA460845804 | CHD7 | c.2905A>C (p.Arg969=) c.1717-40136A>C (n.1717-40136A>C) c.892A>C (p.Arg298=) c.442A>C (p.Arg148=) | gnomAD v4 |
| 8 | g.60822093A>G | CA371308470 | CHD7 | c.2905A>G (p.Arg969Gly) c.1717-40136A>G (n.1717-40136A>G) c.892A>G (p.Arg298Gly) c.442A>G (p.Arg148Gly) | ClinVar dbSNP |
| 8 | g.60822093A>T | CA371308472 | CHD7 | c.2905A>T (p.Arg969Trp) c.1717-40136A>T (n.1717-40136A>T) c.892A>T (p.Arg298Trp) c.442A>T (p.Arg148Trp) | |
| 8 | g.60822093_60822094del | CA271296 | CHD7 | c.2905_2906del (p.Arg969GlyfsTer25) c.1717-40136_1717-40135del (n.1717-40136_1717-40135del) c.892_893del (p.Arg298GlyfsTer25) c.442_443del (p.Arg148GlyfsTer25) | ClinVar dbSNP |
| 8 | g.60822098_60822113del | CA658821725 | CHD7 | c.2910_2925del (p.Tyr971Ter) c.1717-40131_1717-40116del (n.1717-40131_1717-40116del) c.897_912del (p.Tyr300Ter) c.447_462del (p.Tyr150Ter) | ClinVar dbSNP |
| 8 | g.60822094G>A | CA371308476 | CHD7 | c.2906G>A (p.Arg969Lys) c.1717-40135G>A (n.1717-40135G>A) c.893G>A (p.Arg298Lys) c.443G>A (p.Arg148Lys) | |
| 8 | g.60822094G>C | CA371308479 | CHD7 | c.2906G>C (p.Arg969Thr) c.1717-40135G>C (n.1717-40135G>C) c.893G>C (p.Arg298Thr) c.443G>C (p.Arg148Thr) | |
| 8 | g.60822094G>T | CA371308482 | CHD7 | c.2906G>T (p.Arg969Met) c.1717-40135G>T (n.1717-40135G>T) c.893G>T (p.Arg298Met) c.443G>T (p.Arg148Met) | |
| 8 | g.60822096del | CA2695209643 | CHD7 | c.2908del (p.Glu970AsnfsTer7) c.1717-40133del (n.1717-40133del) c.895del (p.Glu299AsnfsTer7) c.445del (p.Glu149AsnfsTer7) | |
| 8 | g.60822095G>A | CA460845805 | CHD7 | c.2907G>A (p.Arg969=) c.1717-40134G>A (n.1717-40134G>A) c.894G>A (p.Arg298=) c.444G>A (p.Arg148=) | |
| 8 | g.60822095G>C | CA371308485 | CHD7 | c.2907G>C (p.Arg969Ser) c.1717-40134G>C (n.1717-40134G>C) c.894G>C (p.Arg298Ser) c.444G>C (p.Arg148Ser) | |
| 8 | g.60822095G>T | CA371308488 | CHD7 | c.2907G>T (p.Arg969Ser) c.1717-40134G>T (n.1717-40134G>T) c.894G>T (p.Arg298Ser) c.444G>T (p.Arg148Ser) | |
| 8 | g.60822096G>A | CA371308491 | CHD7 | c.2908G>A (p.Glu970Lys) c.1717-40133G>A (n.1717-40133G>A) c.895G>A (p.Glu299Lys) c.445G>A (p.Glu149Lys) | |
| 8 | g.60822096G>C | CA371308493 | CHD7 | c.2908G>C (p.Glu970Gln) c.1717-40133G>C (n.1717-40133G>C) c.895G>C (p.Glu299Gln) c.445G>C (p.Glu149Gln) | |
| 8 | g.60822096G>T | CA371308497 | CHD7 | c.2908G>T (p.Glu970Ter) c.1717-40133G>T (n.1717-40133G>T) c.895G>T (p.Glu299Ter) c.445G>T (p.Glu149Ter) | ClinVar |
| 8 | g.60822097A>C | CA371308505 | CHD7 | c.2909A>C (p.Glu970Ala) c.1717-40132A>C (n.1717-40132A>C) c.896A>C (p.Glu299Ala) c.446A>C (p.Glu149Ala) | |
| 8 | g.60822097A>G | CA371308501 | CHD7 | c.2909A>G (p.Glu970Gly) c.1717-40132A>G (n.1717-40132A>G) c.896A>G (p.Glu299Gly) c.446A>G (p.Glu149Gly) | |
| 8 | g.60822097A>T | CA371308503 | CHD7 | c.2909A>T (p.Glu970Val) c.1717-40132A>T (n.1717-40132A>T) c.896A>T (p.Glu299Val) c.446A>T (p.Glu149Val) | |
| 8 | g.60822098A>C | CA371308509 | CHD7 | c.2910A>C (p.Glu970Asp) c.1717-40131A>C (n.1717-40131A>C) c.897A>C (p.Glu299Asp) c.447A>C (p.Glu149Asp) | |
| 8 | g.60822098A>G | CA460845806 | CHD7 | c.2910A>G (p.Glu970=) c.1717-40131A>G (n.1717-40131A>G) c.897A>G (p.Glu299=) c.447A>G (p.Glu149=) | |
| 8 | g.60822098A>T | CA371308511 | CHD7 | c.2910A>T (p.Glu970Asp) c.1717-40131A>T (n.1717-40131A>T) c.897A>T (p.Glu299Asp) c.447A>T (p.Glu149Asp) | |
| 8 | g.60822099T>A | CA371308513 | CHD7 | c.2911T>A (p.Tyr971Asn) c.1717-40130T>A (n.1717-40130T>A) c.898T>A (p.Tyr300Asn) c.448T>A (p.Tyr150Asn) | |
| 8 | g.60822099T>C | CA371308516 | CHD7 | c.2911T>C (p.Tyr971His) c.1717-40130T>C (n.1717-40130T>C) c.898T>C (p.Tyr300His) c.448T>C (p.Tyr150His) | |
| 8 | g.60822099T>G | CA371308519 | CHD7 | c.2911T>G (p.Tyr971Asp) c.1717-40130T>G (n.1717-40130T>G) c.898T>G (p.Tyr300Asp) c.448T>G (p.Tyr150Asp) | |
| 8 | g.60822100A>C | CA371308522 | CHD7 | c.2912A>C (p.Tyr971Ser) c.1717-40129A>C (n.1717-40129A>C) c.899A>C (p.Tyr300Ser) c.449A>C (p.Tyr150Ser) | |
| 8 | g.60822100A>G | CA371308524 | CHD7 | c.2912A>G (p.Tyr971Cys) c.1717-40129A>G (n.1717-40129A>G) c.899A>G (p.Tyr300Cys) c.449A>G (p.Tyr150Cys) | |
| 8 | g.60822100A>T | CA371308526 | CHD7 | c.2912A>T (p.Tyr971Phe) c.1717-40129A>T (n.1717-40129A>T) c.899A>T (p.Tyr300Phe) c.449A>T (p.Tyr150Phe) | |
| 8 | g.60822101C>A | CA371308529 | CHD7 | c.2913C>A (p.Tyr971Ter) c.1717-40128C>A (n.1717-40128C>A) c.900C>A (p.Tyr300Ter) c.450C>A (p.Tyr150Ter) | |
| 8 | g.60822101C>G | CA371308532 | CHD7 | c.2913C>G (p.Tyr971Ter) c.1717-40128C>G (n.1717-40128C>G) c.900C>G (p.Tyr300Ter) c.450C>G (p.Tyr150Ter) | |
| 8 | g.60822101C>T | CA460845807 | CHD7 | c.2913C>T (p.Tyr971=) c.1717-40128C>T (n.1717-40128C>T) c.900C>T (p.Tyr300=) c.450C>T (p.Tyr150=) | gnomAD v4 |
| 8 | g.60822102C>A | CA177334406 | CHD7 | c.2914C>A (p.Gln972Lys) c.1717-40127C>A (n.1717-40127C>A) c.901C>A (p.Gln301Lys) c.451C>A (p.Gln151Lys) | dbSNP |
| 8 | g.60822102C= | CA1788143931 | CHD7 | c.2914C= (p.Gln972=) c.1717-40127C= (n.1717-40127C=) c.901C= (p.Gln301=) c.451C= (p.Gln151=) | |
| 8 | g.60822102C>G | CA371308538 | CHD7 | c.2914C>G (p.Gln972Glu) c.1717-40127C>G (n.1717-40127C>G) c.901C>G (p.Gln301Glu) c.451C>G (p.Gln151Glu) | |
| 8 | g.60822102C>T | CA371308536 | CHD7 | c.2914C>T (p.Gln972Ter) c.1717-40127C>T (n.1717-40127C>T) c.901C>T (p.Gln301Ter) c.451C>T (p.Gln151Ter) | |
| 8 | g.60822103A= | CA1788143935 | CHD7 | c.2915A= (p.Gln972=) c.1717-40126A= (n.1717-40126A=) c.902A= (p.Gln301=) c.452A= (p.Gln151=) | |
| 8 | g.60822103A>C | CA371308544 | CHD7 | c.2915A>C (p.Gln972Pro) c.1717-40126A>C (n.1717-40126A>C) c.902A>C (p.Gln301Pro) c.452A>C (p.Gln151Pro) | |
| 8 | g.60822103A>G | CA371308546 | CHD7 | c.2915A>G (p.Gln972Arg) c.1717-40126A>G (n.1717-40126A>G) c.902A>G (p.Gln301Arg) c.452A>G (p.Gln151Arg) | ClinVar dbSNP |
| 8 | g.60822103A>T | CA371308548 | CHD7 | c.2915A>T (p.Gln972Leu) c.1717-40126A>T (n.1717-40126A>T) c.902A>T (p.Gln301Leu) c.452A>T (p.Gln151Leu) | |
| 8 | g.60822106_60822115del | CA2695209645 | CHD7 | c.2918_2927del (p.Leu973Ter) c.1717-40123_1717-40114del (n.1717-40123_1717-40114del) c.905_914del (p.Leu302Ter) c.455_464del (p.Leu152Ter) | |
| 8 | g.60822104G>A | CA4759856 | CHD7 | c.2916G>A (p.Gln972=) c.1717-40125G>A (n.1717-40125G>A) c.903G>A (p.Gln301=) c.453G>A (p.Gln151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822104G>C | CA371308551 | CHD7 | c.2916G>C (p.Gln972His) c.1717-40125G>C (n.1717-40125G>C) c.903G>C (p.Gln301His) c.453G>C (p.Gln151His) | |
| 8 | g.60822104G= | CA1788143939 | CHD7 | c.2916G= (p.Gln972=) c.1717-40125G= (n.1717-40125G=) c.903G= (p.Gln301=) c.453G= (p.Gln151=) | |
| 8 | g.60822104G>T | CA371308553 | CHD7 | c.2916G>T (p.Gln972His) c.1717-40125G>T (n.1717-40125G>T) c.903G>T (p.Gln301His) c.453G>T (p.Gln151His) | |
| 8 | g.60822104_60822105del | CA2695209647 | CHD7 | c.2916_2917del (p.Gln972HisfsTer22) c.1717-40125_1717-40124del (n.1717-40125_1717-40124del) c.903_904del (p.Gln301HisfsTer22) c.453_454del (p.Gln151HisfsTer22) | |
| 8 | g.60822105T>A | CA371308556 | CHD7 | c.2917T>A (p.Leu973Met) c.1717-40124T>A (n.1717-40124T>A) c.904T>A (p.Leu302Met) c.454T>A (p.Leu152Met) | |
| 8 | g.60822105T>C | CA460845813 | CHD7 | c.2917T>C (p.Leu973=) c.1717-40124T>C (n.1717-40124T>C) c.904T>C (p.Leu302=) c.454T>C (p.Leu152=) | |
| 8 | g.60822105T>G | CA371308557 | CHD7 | c.2917T>G (p.Leu973Val) c.1717-40124T>G (n.1717-40124T>G) c.904T>G (p.Leu302Val) c.454T>G (p.Leu152Val) | |
| 8 | g.60822105_60822114delinsTTGGAGGGAG | CA1788143943 | CHD7 | c.2917_2926delinsTTGGAGGGAG (p.Leu973=) c.1717-40124_1717-40115delinsTTGGAGGGAG (n.1717-40124_1717-40115delinsTTGGAGGGAG) c.904_913delinsTTGGAGGGAG (p.Leu302=) c.454_463delinsTTGGAGGGAG (p.Leu152=) | |
| 8 | g.60822106T>A | CA371308560 | CHD7 | c.2918T>A (p.Leu973Ter) c.1717-40123T>A (n.1717-40123T>A) c.905T>A (p.Leu302Ter) c.455T>A (p.Leu152Ter) | |
| 8 | g.60822106T>C | CA371308563 | CHD7 | c.2918T>C (p.Leu973Ser) c.1717-40123T>C (n.1717-40123T>C) c.905T>C (p.Leu302Ser) c.455T>C (p.Leu152Ser) | |
| 8 | g.60822106T>G | CA371308565 | CHD7 | c.2918T>G (p.Leu973Trp) c.1717-40123T>G (n.1717-40123T>G) c.905T>G (p.Leu302Trp) c.455T>G (p.Leu152Trp) | |
| 8 | g.60822106_60822110delinsTGGAG | CA1788143949 | CHD7 | c.2918_2922delinsTGGAG (p.Leu973=) c.1717-40123_1717-40119delinsTGGAG (n.1717-40123_1717-40119delinsTGGAG) c.905_909delinsTGGAG (p.Leu302=) c.455_459delinsTGGAG (p.Leu152=) | |
| 8 | g.60822107_60822115del | CA916079920 | CHD7 | c.2919_2927del (p.Glu974_Val976del) c.1717-40122_1717-40114del (n.1717-40122_1717-40114del) c.906_914del (p.Glu303_Val305del) c.456_464del (p.Glu153_Val155del) | ClinVar dbSNP |
| 8 | g.60822107G>A | CA460845818 | CHD7 | c.2919G>A (p.Leu973=) c.1717-40122G>A (n.1717-40122G>A) c.906G>A (p.Leu302=) c.456G>A (p.Leu152=) | |
| 8 | g.60822107G>C | CA371308569 | CHD7 | c.2919G>C (p.Leu973Phe) c.1717-40122G>C (n.1717-40122G>C) c.906G>C (p.Leu302Phe) c.456G>C (p.Leu152Phe) | |
| 8 | g.60822107G>T | CA371308571 | CHD7 | c.2919G>T (p.Leu973Phe) c.1717-40122G>T (n.1717-40122G>T) c.906G>T (p.Leu302Phe) c.456G>T (p.Leu152Phe) | |
| 8 | g.60822111_60822114del | CA915945717 | CHD7 | c.2923_2926del (p.Gly975Ter) c.1717-40118_1717-40115del (n.1717-40118_1717-40115del) c.910_913del (p.Gly304Ter) c.460_463del (p.Gly154Ter) | ClinVar dbSNP |
| 8 | g.60822108G>A | CA371308574 | CHD7 | c.2920G>A (p.Glu974Lys) c.1717-40121G>A (n.1717-40121G>A) c.907G>A (p.Glu303Lys) c.457G>A (p.Glu153Lys) | |
| 8 | g.60822108G>C | CA371308577 | CHD7 | c.2920G>C (p.Glu974Gln) c.1717-40121G>C (n.1717-40121G>C) c.907G>C (p.Glu303Gln) c.457G>C (p.Glu153Gln) | |
| 8 | g.60822108G>T | CA371308576 | CHD7 | c.2920G>T (p.Glu974Ter) c.1717-40121G>T (n.1717-40121G>T) c.907G>T (p.Glu303Ter) c.457G>T (p.Glu153Ter) | COSMIC |
| 8 | g.60822109A>C | CA371308580 | CHD7 | c.2921A>C (p.Glu974Ala) c.1717-40120A>C (n.1717-40120A>C) c.908A>C (p.Glu303Ala) c.458A>C (p.Glu153Ala) | |
| 8 | g.60822109A>G | CA371308582 | CHD7 | c.2921A>G (p.Glu974Gly) c.1717-40120A>G (n.1717-40120A>G) c.908A>G (p.Glu303Gly) c.458A>G (p.Glu153Gly) | |
| 8 | g.60822109A>T | CA371308585 | CHD7 | c.2921A>T (p.Glu974Val) c.1717-40120A>T (n.1717-40120A>T) c.908A>T (p.Glu303Val) c.458A>T (p.Glu153Val) | |
| 8 | g.60822110G>A | CA460845823 | CHD7 | c.2922G>A (p.Glu974=) c.1717-40119G>A (n.1717-40119G>A) c.909G>A (p.Glu303=) c.459G>A (p.Glu153=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822110G>C | CA371308593 | CHD7 | c.2922G>C (p.Glu974Asp) c.1717-40119G>C (n.1717-40119G>C) c.909G>C (p.Glu303Asp) c.459G>C (p.Glu153Asp) | |
| 8 | g.60822110G= | CA1788143953 | CHD7 | c.2922G= (p.Glu974=) c.1717-40119G= (n.1717-40119G=) c.909G= (p.Glu303=) c.459G= (p.Glu153=) | |
| 8 | g.60822110G>T | CA371308595 | CHD7 | c.2922G>T (p.Glu974Asp) c.1717-40119G>T (n.1717-40119G>T) c.909G>T (p.Glu303Asp) c.459G>T (p.Glu153Asp) | COSMIC |
| 8 | g.60822111G>A | CA371308598 | CHD7 | c.2923G>A (p.Gly975Arg) c.1717-40118G>A (n.1717-40118G>A) c.910G>A (p.Gly304Arg) c.460G>A (p.Gly154Arg) | |
| 8 | g.60822111G>C | CA371308601 | CHD7 | c.2923G>C (p.Gly975Arg) c.1717-40118G>C (n.1717-40118G>C) c.910G>C (p.Gly304Arg) c.460G>C (p.Gly154Arg) | |
| 8 | g.60822111G>T | CA371308605 | CHD7 | c.2923G>T (p.Gly975Ter) c.1717-40118G>T (n.1717-40118G>T) c.910G>T (p.Gly304Ter) c.460G>T (p.Gly154Ter) | |
| 8 | g.60822112G>A | CA371308607 | CHD7 | c.2924G>A (p.Gly975Glu) c.1717-40117G>A (n.1717-40117G>A) c.911G>A (p.Gly304Glu) c.461G>A (p.Gly154Glu) | |
| 8 | g.60822112G>C | CA371308609 | CHD7 | c.2924G>C (p.Gly975Ala) c.1717-40117G>C (n.1717-40117G>C) c.911G>C (p.Gly304Ala) c.461G>C (p.Gly154Ala) | |
| 8 | g.60822112G>T | CA371308611 | CHD7 | c.2924G>T (p.Gly975Val) c.1717-40117G>T (n.1717-40117G>T) c.911G>T (p.Gly304Val) c.461G>T (p.Gly154Val) | |
| 8 | g.60822113A= | CA1788143957 | CHD7 | c.2925A= (p.Gly975=) c.1717-40116A= (n.1717-40116A=) c.912A= (p.Gly304=) c.462A= (p.Gly154=) | |
| 8 | g.60822113A>C | CA460845829 | CHD7 | c.2925A>C (p.Gly975=) c.1717-40116A>C (n.1717-40116A>C) c.912A>C (p.Gly304=) c.462A>C (p.Gly154=) | |
| 8 | g.60822113A>G | CA460845830 | CHD7 | c.2925A>G (p.Gly975=) c.1717-40116A>G (n.1717-40116A>G) c.912A>G (p.Gly304=) c.462A>G (p.Gly154=) | |
| 8 | g.60822113A>T | CA460845831 | CHD7 | c.2925A>T (p.Gly975=) c.1717-40116A>T (n.1717-40116A>T) c.912A>T (p.Gly304=) c.462A>T (p.Gly154=) | dbSNP gnomAD v2 |
| 8 | g.60822114G>A | CA371308614 | CHD7 | c.2926G>A (p.Val976Ile) c.1717-40115G>A (n.1717-40115G>A) c.913G>A (p.Val305Ile) c.463G>A (p.Val155Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822114G>C | CA371308617 | CHD7 | c.2926G>C (p.Val976Leu) c.1717-40115G>C (n.1717-40115G>C) c.913G>C (p.Val305Leu) c.463G>C (p.Val155Leu) | |
| 8 | g.60822114G= | CA1788143962 | CHD7 | c.2926G= (p.Val976=) c.1717-40115G= (n.1717-40115G=) c.913G= (p.Val305=) c.463G= (p.Val155=) | |
| 8 | g.60822114G>T | CA371308612 | CHD7 | c.2926G>T (p.Val976Leu) c.1717-40115G>T (n.1717-40115G>T) c.913G>T (p.Val305Leu) c.463G>T (p.Val155Leu) | |
| 8 | g.60822115T>A | CA371308623 | CHD7 | c.2927T>A (p.Val976Glu) c.1717-40114T>A (n.1717-40114T>A) c.914T>A (p.Val305Glu) c.464T>A (p.Val155Glu) | |
| 8 | g.60822115T>C | CA371308620 | CHD7 | c.2927T>C (p.Val976Ala) c.1717-40114T>C (n.1717-40114T>C) c.914T>C (p.Val305Ala) c.464T>C (p.Val155Ala) | |
| 8 | g.60822115T>G | CA371308621 | CHD7 | c.2927T>G (p.Val976Gly) c.1717-40114T>G (n.1717-40114T>G) c.914T>G (p.Val305Gly) c.464T>G (p.Val155Gly) | |
| 8 | g.60822116A>C | CA460845837 | CHD7 | c.2928A>C (p.Val976=) c.1717-40113A>C (n.1717-40113A>C) c.915A>C (p.Val305=) c.465A>C (p.Val155=) | |
| 8 | g.60822116A>G | CA460845836 | CHD7 | c.2928A>G (p.Val976=) c.1717-40113A>G (n.1717-40113A>G) c.915A>G (p.Val305=) c.465A>G (p.Val155=) | gnomAD v4 |
| 8 | g.60822116A>T | CA460845835 | CHD7 | c.2928A>T (p.Val976=) c.1717-40113A>T (n.1717-40113A>T) c.915A>T (p.Val305=) c.465A>T (p.Val155=) | |
| 8 | g.60822118del | CA2580078455 | CHD7 | c.2930del (p.Asn977ThrfsTer15) c.1717-40111del (n.1717-40111del) c.917del (p.Asn306ThrfsTer15) c.467del (p.Asn156ThrfsTer15) | ClinVar |
| 8 | g.60822117A>C | CA371308627 | CHD7 | c.2929A>C (p.Asn977His) c.1717-40112A>C (n.1717-40112A>C) c.916A>C (p.Asn306His) c.466A>C (p.Asn156His) | |
| 8 | g.60822117A>G | CA371308629 | CHD7 | c.2929A>G (p.Asn977Asp) c.1717-40112A>G (n.1717-40112A>G) c.916A>G (p.Asn306Asp) c.466A>G (p.Asn156Asp) | gnomAD v4 |
| 8 | g.60822117A>T | CA371308631 | CHD7 | c.2929A>T (p.Asn977Tyr) c.1717-40112A>T (n.1717-40112A>T) c.916A>T (p.Asn306Tyr) c.466A>T (p.Asn156Tyr) | |
| 8 | g.60822118A>C | CA371308633 | CHD7 | c.2930A>C (p.Asn977Thr) c.1717-40111A>C (n.1717-40111A>C) c.917A>C (p.Asn306Thr) c.467A>C (p.Asn156Thr) | |
| 8 | g.60822118A>G | CA371308635 | CHD7 | c.2930A>G (p.Asn977Ser) c.1717-40111A>G (n.1717-40111A>G) c.917A>G (p.Asn306Ser) c.467A>G (p.Asn156Ser) | |
| 8 | g.60822118A>T | CA371308637 | CHD7 | c.2930A>T (p.Asn977Ile) c.1717-40111A>T (n.1717-40111A>T) c.917A>T (p.Asn306Ile) c.467A>T (p.Asn156Ile) | |
| 8 | g.60822119C>A | CA371308639 | CHD7 | c.2931C>A (p.Asn977Lys) c.1717-40110C>A (n.1717-40110C>A) c.918C>A (p.Asn306Lys) c.468C>A (p.Asn156Lys) | |
| 8 | g.60822119C= | CA1788143965 | CHD7 | c.2931C= (p.Asn977=) c.1717-40110C= (n.1717-40110C=) c.918C= (p.Asn306=) c.468C= (p.Asn156=) | |
| 8 | g.60822119C>G | CA371308640 | CHD7 | c.2931C>G (p.Asn977Lys) c.1717-40110C>G (n.1717-40110C>G) c.918C>G (p.Asn306Lys) c.468C>G (p.Asn156Lys) | |
| 8 | g.60822119C>T | CA460845839 | CHD7 | c.2931C>T (p.Asn977=) c.1717-40110C>T (n.1717-40110C>T) c.918C>T (p.Asn306=) c.468C>T (p.Asn156=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822120T>A | CA371308642 | CHD7 | c.2932T>A (p.Trp978Arg) c.1717-40109T>A (n.1717-40109T>A) c.919T>A (p.Trp307Arg) c.469T>A (p.Trp157Arg) | |
| 8 | g.60822120T>C | CA371308644 | CHD7 | c.2932T>C (p.Trp978Arg) c.1717-40109T>C (n.1717-40109T>C) c.919T>C (p.Trp307Arg) c.469T>C (p.Trp157Arg) | |
| 8 | g.60822120T>G | CA371308647 | CHD7 | c.2932T>G (p.Trp978Gly) c.1717-40109T>G (n.1717-40109T>G) c.919T>G (p.Trp307Gly) c.469T>G (p.Trp157Gly) | |
| 8 | g.60822121G>A | CA273318 | CHD7 | c.2933G>A (p.Trp978Ter) c.1717-40108G>A (n.1717-40108G>A) c.920G>A (p.Trp307Ter) c.470G>A (p.Trp157Ter) | ClinVar dbSNP |
| 8 | g.60822121G>C | CA371308653 | CHD7 | c.2933G>C (p.Trp978Ser) c.1717-40108G>C (n.1717-40108G>C) c.920G>C (p.Trp307Ser) c.470G>C (p.Trp157Ser) | |
| 8 | g.60822121G= | CA1788143969 | CHD7 | c.2933G= (p.Trp978=) c.1717-40108G= (n.1717-40108G=) c.920G= (p.Trp307=) c.470G= (p.Trp157=) | |
| 8 | g.60822121G>T | CA371308652 | CHD7 | c.2933G>T (p.Trp978Leu) c.1717-40108G>T (n.1717-40108G>T) c.920G>T (p.Trp307Leu) c.470G>T (p.Trp157Leu) | |
| 8 | g.60822122G>A | CA371308657 | CHD7 | c.2934G>A (p.Trp978Ter) c.1717-40107G>A (n.1717-40107G>A) c.921G>A (p.Trp307Ter) c.471G>A (p.Trp157Ter) | |
| 8 | g.60822122G>C | CA371308658 | CHD7 | c.2934G>C (p.Trp978Cys) c.1717-40107G>C (n.1717-40107G>C) c.921G>C (p.Trp307Cys) c.471G>C (p.Trp157Cys) | |
| 8 | g.60822122G>T | CA371308661 | CHD7 | c.2934G>T (p.Trp978Cys) c.1717-40107G>T (n.1717-40107G>T) c.921G>T (p.Trp307Cys) c.471G>T (p.Trp157Cys) | |
| 8 | g.60822123C>A | CA371308663 | CHD7 | c.2935C>A (p.Leu979Ile) c.1717-40106C>A (n.1717-40106C>A) c.922C>A (p.Leu308Ile) c.472C>A (p.Leu158Ile) | |
| 8 | g.60822123C>G | CA371308665 | CHD7 | c.2935C>G (p.Leu979Val) c.1717-40106C>G (n.1717-40106C>G) c.922C>G (p.Leu308Val) c.472C>G (p.Leu158Val) | |
| 8 | g.60822123C>T | CA460845842 | CHD7 | c.2935C>T (p.Leu979=) c.1717-40106C>T (n.1717-40106C>T) c.922C>T (p.Leu308=) c.472C>T (p.Leu158=) | |
| 8 | g.60822124T>A | CA371308668 | CHD7 | c.2936T>A (p.Leu979Gln) c.1717-40105T>A (n.1717-40105T>A) c.923T>A (p.Leu308Gln) c.473T>A (p.Leu158Gln) | |
| 8 | g.60822124T>C | CA371308671 | CHD7 | c.2936T>C (p.Leu979Pro) c.1717-40105T>C (n.1717-40105T>C) c.923T>C (p.Leu308Pro) c.473T>C (p.Leu158Pro) | |
| 8 | g.60822124T>G | CA371308673 | CHD7 | c.2936T>G (p.Leu979Arg) c.1717-40105T>G (n.1717-40105T>G) c.923T>G (p.Leu308Arg) c.473T>G (p.Leu158Arg) | |
| 8 | g.60822125A= | CA1788143972 | CHD7 | c.2937A= (p.Leu979=) c.1717-40104A= (n.1717-40104A=) c.924A= (p.Leu308=) c.474A= (p.Leu158=) | |
| 8 | g.60822125A>C | CA460845844 | CHD7 | c.2937A>C (p.Leu979=) c.1717-40104A>C (n.1717-40104A>C) c.924A>C (p.Leu308=) c.474A>C (p.Leu158=) | gnomAD v4 |
| 8 | g.60822125A>G | CA177334410 | CHD7 | c.2937A>G (p.Leu979=) c.1717-40104A>G (n.1717-40104A>G) c.924A>G (p.Leu308=) c.474A>G (p.Leu158=) | dbSNP gnomAD v4 |
| 8 | g.60822125A>T | CA460845845 | CHD7 | c.2937A>T (p.Leu979=) c.1717-40104A>T (n.1717-40104A>T) c.924A>T (p.Leu308=) c.474A>T (p.Leu158=) | gnomAD v4 |
| 8 | g.60822126C>A | CA371308674 | CHD7 | c.2938C>A (p.Leu980Ile) c.1717-40103C>A (n.1717-40103C>A) c.925C>A (p.Leu309Ile) c.475C>A (p.Leu159Ile) | |
| 8 | g.60822126C>G | CA371308676 | CHD7 | c.2938C>G (p.Leu980Val) c.1717-40103C>G (n.1717-40103C>G) c.925C>G (p.Leu309Val) c.475C>G (p.Leu159Val) | |
| 8 | g.60822126C>T | CA371308679 | CHD7 | c.2938C>T (p.Leu980Phe) c.1717-40103C>T (n.1717-40103C>T) c.925C>T (p.Leu309Phe) c.475C>T (p.Leu159Phe) | |
| 8 | g.60822127T>A | CA371308685 | CHD7 | c.2939T>A (p.Leu980His) c.1717-40102T>A (n.1717-40102T>A) c.926T>A (p.Leu309His) c.476T>A (p.Leu159His) | gnomAD v4 |
| 8 | g.60822127T>C | CA371308689 | CHD7 | c.2939T>C (p.Leu980Pro) c.1717-40102T>C (n.1717-40102T>C) c.926T>C (p.Leu309Pro) c.476T>C (p.Leu159Pro) | |
| 8 | g.60822127T>G | CA371308682 | CHD7 | c.2939T>G (p.Leu980Arg) c.1717-40102T>G (n.1717-40102T>G) c.926T>G (p.Leu309Arg) c.476T>G (p.Leu159Arg) | |
| 8 | g.60822127_60822128delinsC | CA2695209649 | CHD7 | c.2939_2940delinsC (p.Leu980ProfsTer12) c.1717-40102_1717-40101delinsC (n.1717-40102_1717-40101delinsC) c.926_927delinsC (p.Leu309ProfsTer12) c.476_477delinsC (p.Leu159ProfsTer12) | |
| 8 | g.60822130del | CA2582341673 | CHD7 | c.2942del (p.Phe981SerfsTer11) c.1717-40099del (n.1717-40099del) c.929del (p.Phe310SerfsTer11) c.479del (p.Phe160SerfsTer11) | ClinVar |
| 8 | g.60822128T>A | CA460845849 | CHD7 | c.2940T>A (p.Leu980=) c.1717-40101T>A (n.1717-40101T>A) c.927T>A (p.Leu309=) c.477T>A (p.Leu159=) | |
| 8 | g.60822128T>C | CA460845851 | CHD7 | c.2940T>C (p.Leu980=) c.1717-40101T>C (n.1717-40101T>C) c.927T>C (p.Leu309=) c.477T>C (p.Leu159=) | |
| 8 | g.60822128T>G | CA460845847 | CHD7 | c.2940T>G (p.Leu980=) c.1717-40101T>G (n.1717-40101T>G) c.927T>G (p.Leu309=) c.477T>G (p.Leu159=) | |
| 8 | g.60822129T>A | CA371308693 | CHD7 | c.2941T>A (p.Phe981Ile) c.1717-40100T>A (n.1717-40100T>A) c.928T>A (p.Phe310Ile) c.478T>A (p.Phe160Ile) | |
| 8 | g.60822129T>C | CA371308696 | CHD7 | c.2941T>C (p.Phe981Leu) c.1717-40100T>C (n.1717-40100T>C) c.928T>C (p.Phe310Leu) c.478T>C (p.Phe160Leu) | |
| 8 | g.60822129T>G | CA371308697 | CHD7 | c.2941T>G (p.Phe981Val) c.1717-40100T>G (n.1717-40100T>G) c.928T>G (p.Phe310Val) c.478T>G (p.Phe160Val) | |
| 8 | g.60822130T>A | CA371308702 | CHD7 | c.2942T>A (p.Phe981Tyr) c.1717-40099T>A (n.1717-40099T>A) c.929T>A (p.Phe310Tyr) c.479T>A (p.Phe160Tyr) | |
| 8 | g.60822130T>C | CA371308704 | CHD7 | c.2942T>C (p.Phe981Ser) c.1717-40099T>C (n.1717-40099T>C) c.929T>C (p.Phe310Ser) c.479T>C (p.Phe160Ser) | |
| 8 | g.60822130T>G | CA371308706 | CHD7 | c.2942T>G (p.Phe981Cys) c.1717-40099T>G (n.1717-40099T>G) c.929T>G (p.Phe310Cys) c.479T>G (p.Phe160Cys) | |
| 8 | g.60822131C>A | CA371308719 | CHD7 | c.2943C>A (p.Phe981Leu) c.1717-40098C>A (n.1717-40098C>A) c.930C>A (p.Phe310Leu) c.480C>A (p.Phe160Leu) | |
| 8 | g.60822131C>G | CA371308715 | CHD7 | c.2943C>G (p.Phe981Leu) c.1717-40098C>G (n.1717-40098C>G) c.930C>G (p.Phe310Leu) c.480C>G (p.Phe160Leu) | |
| 8 | g.60822131C>T | CA460845855 | CHD7 | c.2943C>T (p.Phe981=) c.1717-40098C>T (n.1717-40098C>T) c.930C>T (p.Phe310=) c.480C>T (p.Phe160=) | |
| 8 | g.60822132A= | CA1788143977 | CHD7 | c.2944A= (p.Asn982=) c.1717-40097A= (n.1717-40097A=) c.931A= (p.Asn311=) c.481A= (p.Asn161=) | |
| 8 | g.60822132A>C | CA371308722 | CHD7 | c.2944A>C (p.Asn982His) c.1717-40097A>C (n.1717-40097A>C) c.931A>C (p.Asn311His) c.481A>C (p.Asn161His) | dbSNP |
| 8 | g.60822132A>G | CA371308723 | CHD7 | c.2944A>G (p.Asn982Asp) c.1717-40097A>G (n.1717-40097A>G) c.931A>G (p.Asn311Asp) c.481A>G (p.Asn161Asp) | |
| 8 | g.60822132A>T | CA371308727 | CHD7 | c.2944A>T (p.Asn982Tyr) c.1717-40097A>T (n.1717-40097A>T) c.931A>T (p.Asn311Tyr) c.481A>T (p.Asn161Tyr) | |
| 8 | g.60822133A= | CA1788143981 | CHD7 | c.2945A= (p.Asn982=) c.1717-40096A= (n.1717-40096A=) c.932A= (p.Asn311=) c.482A= (p.Asn161=) | |
| 8 | g.60822133A>C | CA371308729 | CHD7 | c.2945A>C (p.Asn982Thr) c.1717-40096A>C (n.1717-40096A>C) c.932A>C (p.Asn311Thr) c.482A>C (p.Asn161Thr) | |
| 8 | g.60822133A>G | CA10606404 | CHD7 | c.2945A>G (p.Asn982Ser) c.1717-40096A>G (n.1717-40096A>G) c.932A>G (p.Asn311Ser) c.482A>G (p.Asn161Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822133A>T | CA371308732 | CHD7 | c.2945A>T (p.Asn982Ile) c.1717-40096A>T (n.1717-40096A>T) c.932A>T (p.Asn311Ile) c.482A>T (p.Asn161Ile) | |
| 8 | g.60822134T>A | CA371308736 | CHD7 | c.2946T>A (p.Asn982Lys) c.1717-40095T>A (n.1717-40095T>A) c.933T>A (p.Asn311Lys) c.483T>A (p.Asn161Lys) | |
| 8 | g.60822134T>C | CA4759857 | CHD7 | c.2946T>C (p.Asn982=) c.1717-40095T>C (n.1717-40095T>C) c.933T>C (p.Asn311=) c.483T>C (p.Asn161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822134T>G | CA371308737 | CHD7 | c.2946T>G (p.Asn982Lys) c.1717-40095T>G (n.1717-40095T>G) c.933T>G (p.Asn311Lys) c.483T>G (p.Asn161Lys) | gnomAD v4 |
| 8 | g.60822134T= | CA1788143987 | CHD7 | c.2946T= (p.Asn982=) c.1717-40095T= (n.1717-40095T=) c.933T= (p.Asn311=) c.483T= (p.Asn161=) | |
| 8 | g.60822135T>A | CA371308742 | CHD7 | c.2947T>A (p.Trp983Arg) c.1717-40094T>A (n.1717-40094T>A) c.934T>A (p.Trp312Arg) c.484T>A (p.Trp162Arg) | |
| 8 | g.60822135T>C | CA371308743 | CHD7 | c.2947T>C (p.Trp983Arg) c.1717-40094T>C (n.1717-40094T>C) c.934T>C (p.Trp312Arg) c.484T>C (p.Trp162Arg) | |
| 8 | g.60822135T>G | CA371308746 | CHD7 | c.2947T>G (p.Trp983Gly) c.1717-40094T>G (n.1717-40094T>G) c.934T>G (p.Trp312Gly) c.484T>G (p.Trp162Gly) | |
| 8 | g.60822136G>A | CA371308752 | CHD7 | c.2948G>A (p.Trp983Ter) c.1717-40093G>A (n.1717-40093G>A) c.935G>A (p.Trp312Ter) c.485G>A (p.Trp162Ter) | ClinVar |
| 8 | g.60822136G>C | CA371308754 | CHD7 | c.2948G>C (p.Trp983Ser) c.1717-40093G>C (n.1717-40093G>C) c.935G>C (p.Trp312Ser) c.485G>C (p.Trp162Ser) | |
| 8 | g.60822136G>T | CA371308757 | CHD7 | c.2948G>T (p.Trp983Leu) c.1717-40093G>T (n.1717-40093G>T) c.935G>T (p.Trp312Leu) c.485G>T (p.Trp162Leu) | |
| 8 | g.60822137G>A | CA371308760 | CHD7 | c.2949G>A (p.Trp983Ter) c.1717-40092G>A (n.1717-40092G>A) c.936G>A (p.Trp312Ter) c.486G>A (p.Trp162Ter) | ClinVar |
| 8 | g.60822137G>C | CA371308762 | CHD7 | c.2949G>C (p.Trp983Cys) c.1717-40092G>C (n.1717-40092G>C) c.936G>C (p.Trp312Cys) c.486G>C (p.Trp162Cys) | |
| 8 | g.60822137G>T | CA371308765 | CHD7 | c.2949G>T (p.Trp983Cys) c.1717-40092G>T (n.1717-40092G>T) c.936G>T (p.Trp312Cys) c.486G>T (p.Trp162Cys) | |
| 8 | g.60822138T>A | CA371308769 | CHD7 | c.2950T>A (p.Tyr984Asn) c.1717-40091T>A (n.1717-40091T>A) c.937T>A (p.Tyr313Asn) c.487T>A (p.Tyr163Asn) | |
| 8 | g.60822138T>C | CA371308773 | CHD7 | c.2950T>C (p.Tyr984His) c.1717-40091T>C (n.1717-40091T>C) c.937T>C (p.Tyr313His) c.487T>C (p.Tyr163His) | gnomAD v4 |
| 8 | g.60822138T>G | CA371308774 | CHD7 | c.2950T>G (p.Tyr984Asp) c.1717-40091T>G (n.1717-40091T>G) c.937T>G (p.Tyr313Asp) c.487T>G (p.Tyr163Asp) | |
| 8 | g.60822139A= | CA1788143991 | CHD7 | c.2951A= (p.Tyr984=) c.1717-40090A= (n.1717-40090A=) c.938A= (p.Tyr313=) c.488A= (p.Tyr163=) | |
| 8 | g.60822139A>C | CA371308777 | CHD7 | c.2951A>C (p.Tyr984Ser) c.1717-40090A>C (n.1717-40090A>C) c.938A>C (p.Tyr313Ser) c.488A>C (p.Tyr163Ser) | gnomAD v4 |
| 8 | g.60822139A>G | CA4759858 | CHD7 | c.2951A>G (p.Tyr984Cys) c.1717-40090A>G (n.1717-40090A>G) c.938A>G (p.Tyr313Cys) c.488A>G (p.Tyr163Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822139A>T | CA371308775 | CHD7 | c.2951A>T (p.Tyr984Phe) c.1717-40090A>T (n.1717-40090A>T) c.938A>T (p.Tyr313Phe) c.488A>T (p.Tyr163Phe) | |
| 8 | g.60822142_60822144del | CA2695209650 | CHD7 | c.2954_2956del (p.Asn985del) c.1717-40087_1717-40085del (n.1717-40087_1717-40085del) c.941_943del (p.Asn314del) c.491_493del (p.Asn164del) | |
| 8 | g.60822140C>A | CA371308779 | CHD7 | c.2952C>A (p.Tyr984Ter) c.1717-40089C>A (n.1717-40089C>A) c.939C>A (p.Tyr313Ter) c.489C>A (p.Tyr163Ter) | |
| 8 | g.60822140C>G | CA371308782 | CHD7 | c.2952C>G (p.Tyr984Ter) c.1717-40089C>G (n.1717-40089C>G) c.939C>G (p.Tyr313Ter) c.489C>G (p.Tyr163Ter) | |
| 8 | g.60822140C>T | CA460845871 | CHD7 | c.2952C>T (p.Tyr984=) c.1717-40089C>T (n.1717-40089C>T) c.939C>T (p.Tyr313=) c.489C>T (p.Tyr163=) | |
| 8 | g.60822141A= | CA1788143994 | CHD7 | c.2953A= (p.Asn985=) c.1717-40088A= (n.1717-40088A=) c.940A= (p.Asn314=) c.490A= (p.Asn164=) | |
| 8 | g.60822141A>C | CA371308783 | CHD7 | c.2953A>C (p.Asn985His) c.1717-40088A>C (n.1717-40088A>C) c.940A>C (p.Asn314His) c.490A>C (p.Asn164His) | |
| 8 | g.60822141A>G | CA371308784 | CHD7 | c.2953A>G (p.Asn985Asp) c.1717-40088A>G (n.1717-40088A>G) c.940A>G (p.Asn314Asp) c.490A>G (p.Asn164Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822141A>T | CA371308785 | CHD7 | c.2953A>T (p.Asn985Tyr) c.1717-40088A>T (n.1717-40088A>T) c.940A>T (p.Asn314Tyr) c.490A>T (p.Asn164Tyr) | |
| 8 | g.60822142A>C | CA371308789 | CHD7 | c.2954A>C (p.Asn985Thr) c.1717-40087A>C (n.1717-40087A>C) c.941A>C (p.Asn314Thr) c.491A>C (p.Asn164Thr) | |
| 8 | g.60822142A>G | CA371308792 | CHD7 | c.2954A>G (p.Asn985Ser) c.1717-40087A>G (n.1717-40087A>G) c.941A>G (p.Asn314Ser) c.491A>G (p.Asn164Ser) | |
| 8 | g.60822142A>T | CA371308793 | CHD7 | c.2954A>T (p.Asn985Ile) c.1717-40087A>T (n.1717-40087A>T) c.941A>T (p.Asn314Ile) c.491A>T (p.Asn164Ile) | |
| 8 | g.60822143C>A | CA371308806 | CHD7 | c.2955C>A (p.Asn985Lys) c.1717-40086C>A (n.1717-40086C>A) c.942C>A (p.Asn314Lys) c.492C>A (p.Asn164Lys) | |
| 8 | g.60822143C>G | CA371308796 | CHD7 | c.2955C>G (p.Asn985Lys) c.1717-40086C>G (n.1717-40086C>G) c.942C>G (p.Asn314Lys) c.492C>G (p.Asn164Lys) | |
| 8 | g.60822143C>T | CA460845874 | CHD7 | c.2955C>T (p.Asn985=) c.1717-40086C>T (n.1717-40086C>T) c.942C>T (p.Asn314=) c.492C>T (p.Asn164=) | |
| 8 | g.60822144A= | CA1788143998 | CHD7 | c.2956A= (p.Met986=) c.1717-40085A= (n.1717-40085A=) c.943A= (p.Met315=) c.493A= (p.Met165=) | |
| 8 | g.60822144A>C | CA371308807 | CHD7 | c.2956A>C (p.Met986Leu) c.1717-40085A>C (n.1717-40085A>C) c.943A>C (p.Met315Leu) c.493A>C (p.Met165Leu) | |
| 8 | g.60822144A>G | CA4759859 | CHD7 | c.2956A>G (p.Met986Val) c.1717-40085A>G (n.1717-40085A>G) c.943A>G (p.Met315Val) c.493A>G (p.Met165Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822144A>T | CA371308809 | CHD7 | c.2956A>T (p.Met986Leu) c.1717-40085A>T (n.1717-40085A>T) c.943A>T (p.Met315Leu) c.493A>T (p.Met165Leu) | gnomAD v4 |
| 8 | g.60822145T>A | CA371308813 | CHD7 | c.2957T>A (p.Met986Lys) c.1717-40084T>A (n.1717-40084T>A) c.944T>A (p.Met315Lys) c.494T>A (p.Met165Lys) | gnomAD v4 |
| 8 | g.60822145T>C | CA371308815 | CHD7 | c.2957T>C (p.Met986Thr) c.1717-40084T>C (n.1717-40084T>C) c.944T>C (p.Met315Thr) c.494T>C (p.Met165Thr) | gnomAD v4 |
| 8 | g.60822145T>G | CA371308816 | CHD7 | c.2957T>G (p.Met986Arg) c.1717-40084T>G (n.1717-40084T>G) c.944T>G (p.Met315Arg) c.494T>G (p.Met165Arg) | |
| 8 | g.60822146G>A | CA371308818 | CHD7 | c.2957+1G>A (n.2957+1G>A) c.1717-40083G>A (n.1717-40083G>A) c.944+1G>A (n.944+1G>A) c.494+1G>A (n.494+1G>A) | |
| 8 | g.60822146G>C | CA371308822 | CHD7 | c.2957+1G>C (n.2957+1G>C) c.1717-40083G>C (n.1717-40083G>C) c.944+1G>C (n.944+1G>C) c.494+1G>C (n.494+1G>C) | |
| 8 | g.60822146G>T | CA371308819 | CHD7 | c.2957+1G>T (n.2957+1G>T) c.1717-40083G>T (n.1717-40083G>T) c.944+1G>T (n.944+1G>T) c.494+1G>T (n.494+1G>T) | |
| 8 | g.60822147T>A | CA371308824 | CHD7 | c.2957+2T>A (n.2957+2T>A) c.1717-40082T>A (n.1717-40082T>A) c.944+2T>A (n.944+2T>A) c.494+2T>A (n.494+2T>A) | |
| 8 | g.60822147T>C | CA371308825 | CHD7 | c.2957+2T>C (n.2957+2T>C) c.1717-40082T>C (n.1717-40082T>C) c.944+2T>C (n.944+2T>C) c.494+2T>C (n.494+2T>C) | ClinVar dbSNP |
| 8 | g.60822147T>G | CA371308826 | CHD7 | c.2957+2T>G (n.2957+2T>G) c.1717-40082T>G (n.1717-40082T>G) c.944+2T>G (n.944+2T>G) c.494+2T>G (n.494+2T>G) | |
| 8 | g.60822149T>C | CA2780535368 | CHD7 | c.2957+4T>C (n.2957+4T>C) c.1717-40080T>C (n.1717-40080T>C) c.944+4T>C (n.944+4T>C) c.494+4T>C (n.494+4T>C) | |
| 8 | g.60822149T>G | CA4759860 | CHD7 | c.2957+4T>G (n.2957+4T>G) c.1717-40080T>G (n.1717-40080T>G) c.944+4T>G (n.944+4T>G) c.494+4T>G (n.494+4T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822149T= | CA1788143999 | CHD7 | c.2957+4T= (n.2957+4T=) c.1717-40080T= (n.1717-40080T=) c.944+4T= (n.944+4T=) c.494+4T= (n.494+4T=) | |
| 8 | g.60822150G>A | CA915945718 | CHD7 | c.2957+5G>A (n.2957+5G>A) c.1717-40079G>A (n.1717-40079G>A) c.944+5G>A (n.944+5G>A) c.494+5G>A (n.494+5G>A) | ClinVar dbSNP |
| 8 | g.60822150G= | CA1788144002 | CHD7 | c.2957+5G= (n.2957+5G=) c.1717-40079G= (n.1717-40079G=) c.944+5G= (n.944+5G=) c.494+5G= (n.494+5G=) | |
| 8 | g.60822151T>A | CA581977599 | CHD7 | c.2957+6T>A (n.2957+6T>A) c.1717-40078T>A (n.1717-40078T>A) c.944+6T>A (n.944+6T>A) c.494+6T>A (n.494+6T>A) | ClinVar dbSNP gnomAD v2 |
| 8 | g.60822151T= | CA1788144004 | CHD7 | c.2957+6T= (n.2957+6T=) c.1717-40078T= (n.1717-40078T=) c.944+6T= (n.944+6T=) c.494+6T= (n.494+6T=) | |
| 8 | g.60822152A= | CA1788144006 | CHD7 | c.2957+7A= (n.2957+7A=) c.1717-40077A= (n.1717-40077A=) c.944+7A= (n.944+7A=) c.494+7A= (n.494+7A=) | |
| 8 | g.60822152A>G | CA4759861 | CHD7 | c.2957+7A>G (n.2957+7A>G) c.1717-40077A>G (n.1717-40077A>G) c.944+7A>G (n.944+7A>G) c.494+7A>G (n.494+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822154A= | CA1788144008 | CHD7 | c.2957+9A= (n.2957+9A=) c.1717-40075A= (n.1717-40075A=) c.944+9A= (n.944+9A=) c.494+9A= (n.494+9A=) | |
| 8 | g.60822154A>G | CA1788144009 | CHD7 | c.2957+9A>G (n.2957+9A>G) c.1717-40075A>G (n.1717-40075A>G) c.944+9A>G (n.944+9A>G) c.494+9A>G (n.494+9A>G) | dbSNP |
| 8 | g.60822155A>G | CA2687397758 | CHD7 | c.2957+10A>G (n.2957+10A>G) c.1717-40074A>G (n.1717-40074A>G) c.944+10A>G (n.944+10A>G) c.494+10A>G (n.494+10A>G) | gnomAD v4 |
| 8 | g.60822155A>T | CA2687397759 | CHD7 | c.2957+10A>T (n.2957+10A>T) c.1717-40074A>T (n.1717-40074A>T) c.944+10A>T (n.944+10A>T) c.494+10A>T (n.494+10A>T) | gnomAD v4 |
| 8 | g.60822156C>A | CA2687397760 | CHD7 | c.2957+11C>A (n.2957+11C>A) c.1717-40073C>A (n.1717-40073C>A) c.944+11C>A (n.944+11C>A) c.494+11C>A (n.494+11C>A) | gnomAD v4 |
| 8 | g.60822156C= | CA1788144012 | CHD7 | c.2957+11C= (n.2957+11C=) c.1717-40073C= (n.1717-40073C=) c.944+11C= (n.944+11C=) c.494+11C= (n.494+11C=) | |
| 8 | g.60822156C>G | CA1114439860 | CHD7 | c.2957+11C>G (n.2957+11C>G) c.1717-40073C>G (n.1717-40073C>G) c.944+11C>G (n.944+11C>G) c.494+11C>G (n.494+11C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822159G>C | CA177334449 | CHD7 | c.2957+14G>C (n.2957+14G>C) c.1717-40070G>C (n.1717-40070G>C) c.944+14G>C (n.944+14G>C) c.494+14G>C (n.494+14G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822159G= | CA1788144016 | CHD7 | c.2957+14G= (n.2957+14G=) c.1717-40070G= (n.1717-40070G=) c.944+14G= (n.944+14G=) c.494+14G= (n.494+14G=) | |
| 8 | g.60822160T>A | CA1788144020 | CHD7 | c.2957+15T>A (n.2957+15T>A) c.1717-40069T>A (n.1717-40069T>A) c.944+15T>A (n.944+15T>A) c.494+15T>A (n.494+15T>A) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60822160T= | CA1788144021 | CHD7 | c.2957+15T= (n.2957+15T=) c.1717-40069T= (n.1717-40069T=) c.944+15T= (n.944+15T=) c.494+15T= (n.494+15T=) | |
| 8 | g.60822167T>C | CA2687397761 | CHD7 | c.2957+22T>C (n.2957+22T>C) c.1717-40062T>C (n.1717-40062T>C) c.944+22T>C (n.944+22T>C) c.494+22T>C (n.494+22T>C) | gnomAD v4 |
| 8 | g.60822168C>A | CA2687397762 | CHD7 | c.2957+23C>A (n.2957+23C>A) c.1717-40061C>A (n.1717-40061C>A) c.944+23C>A (n.944+23C>A) c.494+23C>A (n.494+23C>A) | gnomAD v4 |
| 8 | g.60822168C= | CA1788144023 | CHD7 | c.2957+23C= (n.2957+23C=) c.1717-40061C= (n.1717-40061C=) c.944+23C= (n.944+23C=) c.494+23C= (n.494+23C=) | |
| 8 | g.60822168C>G | CA2687397763 | CHD7 | c.2957+23C>G (n.2957+23C>G) c.1717-40061C>G (n.1717-40061C>G) c.944+23C>G (n.944+23C>G) c.494+23C>G (n.494+23C>G) | gnomAD v4 |
| 8 | g.60822168C>T | CA4759862 | CHD7 | c.2957+23C>T (n.2957+23C>T) c.1717-40061C>T (n.1717-40061C>T) c.944+23C>T (n.944+23C>T) c.494+23C>T (n.494+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822169A= | CA1788144027 | CHD7 | c.2957+24A= (n.2957+24A=) c.1717-40060A= (n.1717-40060A=) c.944+24A= (n.944+24A=) c.494+24A= (n.494+24A=) | |
| 8 | g.60822169A>G | CA4759863 | CHD7 | c.2957+24A>G (n.2957+24A>G) c.1717-40060A>G (n.1717-40060A>G) c.944+24A>G (n.944+24A>G) c.494+24A>G (n.494+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822170C>A | CA2687397764 | CHD7 | c.2957+25C>A (n.2957+25C>A) c.1717-40059C>A (n.1717-40059C>A) c.944+25C>A (n.944+25C>A) c.494+25C>A (n.494+25C>A) | gnomAD v4 |
| 8 | g.60822170C= | CA1788144031 | CHD7 | c.2957+25C= (n.2957+25C=) c.1717-40059C= (n.1717-40059C=) c.944+25C= (n.944+25C=) c.494+25C= (n.494+25C=) | |
| 8 | g.60822170C>G | CA581977601 | CHD7 | c.2957+25C>G (n.2957+25C>G) c.1717-40059C>G (n.1717-40059C>G) c.944+25C>G (n.944+25C>G) c.494+25C>G (n.494+25C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822170_60822171delinsCT | CA1788144030 | CHD7 | c.2957+25_2957+26delinsCT (n.2957+25_2957+26delinsCT) c.1717-40059_1717-40058delinsCT (n.1717-40059_1717-40058delinsCT) c.944+25_944+26delinsCT (n.944+25_944+26delinsCT) c.494+25_494+26delinsCT (n.494+25_494+26delinsCT) | |
| 8 | g.60822174del | CA4759864 | CHD7 | c.2957+29del (n.2957+29del) c.1717-40055del (n.1717-40055del) c.944+29del (n.944+29del) c.494+29del (n.494+29del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60822174T>C | CA2687397765 | CHD7 | c.2957+29T>C (n.2957+29T>C) c.1717-40055T>C (n.1717-40055T>C) c.944+29T>C (n.944+29T>C) c.494+29T>C (n.494+29T>C) | gnomAD v4 |
| 8 | g.60822176A= | CA1788144036 | CHD7 | c.2957+31A= (n.2957+31A=) c.1717-40053A= (n.1717-40053A=) c.944+31A= (n.944+31A=) c.494+31A= (n.494+31A=) | |
| 8 | g.60822176A>G | CA2579191690 | CHD7 | c.2957+31A>G (n.2957+31A>G) c.1717-40053A>G (n.1717-40053A>G) c.944+31A>G (n.944+31A>G) c.494+31A>G (n.494+31A>G) | gnomAD v4 |
| 8 | g.60822176A>T | CA1788144037 | CHD7 | c.2957+31A>T (n.2957+31A>T) c.1717-40053A>T (n.1717-40053A>T) c.944+31A>T (n.944+31A>T) c.494+31A>T (n.494+31A>T) | dbSNP |
| 8 | g.60822177A= | CA1788144040 | CHD7 | c.2957+32A= (n.2957+32A=) c.1717-40052A= (n.1717-40052A=) c.944+32A= (n.944+32A=) c.494+32A= (n.494+32A=) | |
| 8 | g.60822177A>G | CA1114439874 | CHD7 | c.2957+32A>G (n.2957+32A>G) c.1717-40052A>G (n.1717-40052A>G) c.944+32A>G (n.944+32A>G) c.494+32A>G (n.494+32A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822179A= | CA1788144042 | CHD7 | c.2957+34A= (n.2957+34A=) c.1717-40050A= (n.1717-40050A=) c.944+34A= (n.944+34A=) c.494+34A= (n.494+34A=) | |
| 8 | g.60822179A>G | CA177334489 | CHD7 | c.2957+34A>G (n.2957+34A>G) c.1717-40050A>G (n.1717-40050A>G) c.944+34A>G (n.944+34A>G) c.494+34A>G (n.494+34A>G) | dbSNP gnomAD v4 |
| 8 | g.60822180T>C | CA2687397766 | CHD7 | c.2957+35T>C (n.2957+35T>C) c.1717-40049T>C (n.1717-40049T>C) c.944+35T>C (n.944+35T>C) c.494+35T>C (n.494+35T>C) | gnomAD v4 |
| 8 | g.60822181A= | CA1788144044 | CHD7 | c.2957+36A= (n.2957+36A=) c.1717-40048A= (n.1717-40048A=) c.944+36A= (n.944+36A=) c.494+36A= (n.494+36A=) | |
| 8 | g.60822181A>G | CA651867816 | CHD7 | c.2957+36A>G (n.2957+36A>G) c.1717-40048A>G (n.1717-40048A>G) c.944+36A>G (n.944+36A>G) c.494+36A>G (n.494+36A>G) | dbSNP gnomAD v4 COSMIC |
| 8 | g.60822182T>C | CA2687397767 | CHD7 | c.2957+37T>C (n.2957+37T>C) c.1717-40047T>C (n.1717-40047T>C) c.944+37T>C (n.944+37T>C) c.494+37T>C (n.494+37T>C) | gnomAD v4 |
| 8 | g.60822183C>A | CA2687397768 | CHD7 | c.2957+38C>A (n.2957+38C>A) c.1717-40046C>A (n.1717-40046C>A) c.944+38C>A (n.944+38C>A) c.494+38C>A (n.494+38C>A) | gnomAD v4 |
| 8 | g.60822183C>G | CA2579191693 | CHD7 | c.2957+38C>G (n.2957+38C>G) c.1717-40046C>G (n.1717-40046C>G) c.944+38C>G (n.944+38C>G) c.494+38C>G (n.494+38C>G) | gnomAD v4 |
| 8 | g.60822184_60822185insCATAGAGAAAT | CA2687397769 | CHD7 | c.2957+39_2957+40insCATAGAGAAAT (n.2957+39_2957+40insCATAGAGAAAT) c.1717-40045_1717-40044insCATAGAGAAAT (n.1717-40045_1717-40044insCATAGAGAAAT) c.944+39_944+40insCATAGAGAAAT (n.944+39_944+40insCATAGAGAAAT) c.494+39_494+40insCATAGAGAAAT (n.494+39_494+40insCATAGAGAAAT) | gnomAD v4 |
| 8 | g.60822185G>A | CA2687397770 | CHD7 | c.2957+40G>A (n.2957+40G>A) c.1717-40044G>A (n.1717-40044G>A) c.944+40G>A (n.944+40G>A) c.494+40G>A (n.494+40G>A) | gnomAD v4 |
| 8 | g.60822185G>C | CA581977602 | CHD7 | c.2957+40G>C (n.2957+40G>C) c.1717-40044G>C (n.1717-40044G>C) c.944+40G>C (n.944+40G>C) c.494+40G>C (n.494+40G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60822185G= | CA1788144046 | CHD7 | c.2957+40G= (n.2957+40G=) c.1717-40044G= (n.1717-40044G=) c.944+40G= (n.944+40G=) c.494+40G= (n.494+40G=) | |
| 8 | g.60822186T>C | CA2579191694 | CHD7 | c.2957+41T>C (n.2957+41T>C) c.1717-40043T>C (n.1717-40043T>C) c.944+41T>C (n.944+41T>C) c.494+41T>C (n.494+41T>C) | |
| 8 | g.60822187A>G | CA2687397771 | CHD7 | c.2957+42A>G (n.2957+42A>G) c.1717-40042A>G (n.1717-40042A>G) c.944+42A>G (n.944+42A>G) c.494+42A>G (n.494+42A>G) | gnomAD v4 |
| 8 | g.60822188_60822193delinsGTTCCT | CA1788144047 | CHD7 | c.2957+43_2957+48delinsGTTCCT (n.2957+43_2957+48delinsGTTCCT) c.1717-40041_1717-40036delinsGTTCCT (n.1717-40041_1717-40036delinsGTTCCT) c.944+43_944+48delinsGTTCCT (n.944+43_944+48delinsGTTCCT) c.494+43_494+48delinsGTTCCT (n.494+43_494+48delinsGTTCCT) | |
| 8 | g.60822189T>C | CA2687397772 | CHD7 | c.2957+44T>C (n.2957+44T>C) c.1717-40040T>C (n.1717-40040T>C) c.944+44T>C (n.944+44T>C) c.494+44T>C (n.494+44T>C) | gnomAD v4 |
| 8 | g.60822196_60822200del | CA853890531 | CHD7 | c.2957+51_2957+55del (n.2957+51_2957+55del) c.1717-40033_1717-40029del (n.1717-40033_1717-40029del) c.944+51_944+55del (n.944+51_944+55del) c.494+51_494+55del (n.494+51_494+55del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60822190T>C | CA4759865 | CHD7 | c.2957+45T>C (n.2957+45T>C) c.1717-40039T>C (n.1717-40039T>C) c.944+45T>C (n.944+45T>C) c.494+45T>C (n.494+45T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822190T= | CA1788144048 | CHD7 | c.2957+45T= (n.2957+45T=) c.1717-40039T= (n.1717-40039T=) c.944+45T= (n.944+45T=) c.494+45T= (n.494+45T=) | |
| 8 | g.60822190_60822191delinsTC | CA1788144050 | CHD7 | c.2957+45_2957+46delinsTC (n.2957+45_2957+46delinsTC) c.1717-40039_1717-40038delinsTC (n.1717-40039_1717-40038delinsTC) c.944+45_944+46delinsTC (n.944+45_944+46delinsTC) c.494+45_494+46delinsTC (n.494+45_494+46delinsTC) | |
| 8 | g.60822191C>A | CA2687397773 | CHD7 | c.2957+46C>A (n.2957+46C>A) c.1717-40038C>A (n.1717-40038C>A) c.944+46C>A (n.944+46C>A) c.494+46C>A (n.494+46C>A) | gnomAD v4 |
| 8 | g.60822191C= | CA1788144054 | CHD7 | c.2957+46C= (n.2957+46C=) c.1717-40038C= (n.1717-40038C=) c.944+46C= (n.944+46C=) c.494+46C= (n.494+46C=) | |
| 8 | g.60822191C>G | CA4759866 | CHD7 | c.2957+46C>G (n.2957+46C>G) c.1717-40038C>G (n.1717-40038C>G) c.944+46C>G (n.944+46C>G) c.494+46C>G (n.494+46C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60822192del | CA1788144052 | CHD7 | c.2957+47del (n.2957+47del) c.1717-40037del (n.1717-40037del) c.944+47del (n.944+47del) c.494+47del (n.494+47del) | dbSNP |
| 8 | g.60822192C>A | CA2687397774 | CHD7 | c.2957+47C>A (n.2957+47C>A) c.1717-40037C>A (n.1717-40037C>A) c.944+47C>A (n.944+47C>A) c.494+47C>A (n.494+47C>A) | gnomAD v4 |
| 8 | g.60822192C= | CA1788144056 | CHD7 | c.2957+47C= (n.2957+47C=) c.1717-40037C= (n.1717-40037C=) c.944+47C= (n.944+47C=) c.494+47C= (n.494+47C=) | |
| 8 | g.60822192C>G | CA1788144057 | CHD7 | c.2957+47C>G (n.2957+47C>G) c.1717-40037C>G (n.1717-40037C>G) c.944+47C>G (n.944+47C>G) c.494+47C>G (n.494+47C>G) | dbSNP |
| 8 | g.60822192C>T | CA2780535374 | CHD7 | c.2957+47C>T (n.2957+47C>T) c.1717-40037C>T (n.1717-40037C>T) c.944+47C>T (n.944+47C>T) c.494+47C>T (n.494+47C>T) | |
| 8 | g.60822193T>C | CA2687397775 | CHD7 | c.2957+48T>C (n.2957+48T>C) c.1717-40036T>C (n.1717-40036T>C) c.944+48T>C (n.944+48T>C) c.494+48T>C (n.494+48T>C) | gnomAD v4 |