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.60836824T>A | CA371316575 | CHD7 | c.3997T>A (p.Tyr1333Asn) c.1717-25405T>A (n.1717-25405T>A) c.1984T>A (p.Tyr662Asn) c.1534T>A (p.Tyr512Asn) c.742T>A (p.Tyr248Asn) | |
| 8 | g.60836824T>C | CA371316576 | CHD7 | c.3997T>C (p.Tyr1333His) c.1717-25405T>C (n.1717-25405T>C) c.1984T>C (p.Tyr662His) c.1534T>C (p.Tyr512His) c.742T>C (p.Tyr248His) | gnomAD v4 |
| 8 | g.60836824T>G | CA371316574 | CHD7 | c.3997T>G (p.Tyr1333Asp) c.1717-25405T>G (n.1717-25405T>G) c.1984T>G (p.Tyr662Asp) c.1534T>G (p.Tyr512Asp) c.742T>G (p.Tyr248Asp) | |
| 8 | g.60836825A= | CA1788113665 | CHD7 | c.3998A= (p.Tyr1333=) c.1717-25404A= (n.1717-25404A=) c.1985A= (p.Tyr662=) c.1535A= (p.Tyr512=) c.743A= (p.Tyr248=) | |
| 8 | g.60836825A>C | CA371316579 | CHD7 | c.3998A>C (p.Tyr1333Ser) c.1717-25404A>C (n.1717-25404A>C) c.1985A>C (p.Tyr662Ser) c.1535A>C (p.Tyr512Ser) c.743A>C (p.Tyr248Ser) | |
| 8 | g.60836825A>G | CA371316577 | CHD7 | c.3998A>G (p.Tyr1333Cys) c.1717-25404A>G (n.1717-25404A>G) c.1985A>G (p.Tyr662Cys) c.1535A>G (p.Tyr512Cys) c.743A>G (p.Tyr248Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.60836825A>T | CA371316578 | CHD7 | c.3998A>T (p.Tyr1333Phe) c.1717-25404A>T (n.1717-25404A>T) c.1985A>T (p.Tyr662Phe) c.1535A>T (p.Tyr512Phe) c.743A>T (p.Tyr248Phe) | gnomAD v4 |
| 8 | g.60836825_60836826delinsAT | CA1788113662 | CHD7 | c.3998_3999delinsAT (p.Tyr1333=) c.1717-25404_1717-25403delinsAT (n.1717-25404_1717-25403delinsAT) c.1985_1986delinsAT (p.Tyr662=) c.1535_1536delinsAT (p.Tyr512=) c.743_744delinsAT (p.Tyr248=) | |
| 8 | g.60836826del | CA915945697 | CHD7 | c.3999del (p.Tyr1333Ter) c.1717-25403del (n.1717-25403del) c.1986del (p.Tyr662Ter) c.1536del (p.Tyr512Ter) c.744del (p.Tyr248Ter) | ClinVar dbSNP |
| 8 | g.60836826T>A | CA371316580 | CHD7 | c.3999T>A (p.Tyr1333Ter) c.1717-25403T>A (n.1717-25403T>A) c.1986T>A (p.Tyr662Ter) c.1536T>A (p.Tyr512Ter) c.744T>A (p.Tyr248Ter) | |
| 8 | g.60836826T>C | CA460846936 | CHD7 | c.3999T>C (p.Tyr1333=) c.1717-25403T>C (n.1717-25403T>C) c.1986T>C (p.Tyr662=) c.1536T>C (p.Tyr512=) c.744T>C (p.Tyr248=) | |
| 8 | g.60836826T>G | CA371316581 | CHD7 | c.3999T>G (p.Tyr1333Ter) c.1717-25403T>G (n.1717-25403T>G) c.1986T>G (p.Tyr662Ter) c.1536T>G (p.Tyr512Ter) c.744T>G (p.Tyr248Ter) | ClinVar dbSNP |
| 8 | g.60836827G>A | CA371316582 | CHD7 | c.4000G>A (p.Glu1334Lys) c.1717-25402G>A (n.1717-25402G>A) c.1987G>A (p.Glu663Lys) c.1537G>A (p.Glu513Lys) c.745G>A (p.Glu249Lys) | |
| 8 | g.60836827G>C | CA371316583 | CHD7 | c.4000G>C (p.Glu1334Gln) c.1717-25402G>C (n.1717-25402G>C) c.1987G>C (p.Glu663Gln) c.1537G>C (p.Glu513Gln) c.745G>C (p.Glu249Gln) | |
| 8 | g.60836827G>T | CA371316584 | CHD7 | c.4000G>T (p.Glu1334Ter) c.1717-25402G>T (n.1717-25402G>T) c.1987G>T (p.Glu663Ter) c.1537G>T (p.Glu513Ter) c.745G>T (p.Glu249Ter) | |
| 8 | g.60836828A>C | CA371316587 | CHD7 | c.4001A>C (p.Glu1334Ala) c.1717-25401A>C (n.1717-25401A>C) c.1988A>C (p.Glu663Ala) c.1538A>C (p.Glu513Ala) c.746A>C (p.Glu249Ala) | |
| 8 | g.60836828A>G | CA371316585 | CHD7 | c.4001A>G (p.Glu1334Gly) c.1717-25401A>G (n.1717-25401A>G) c.1988A>G (p.Glu663Gly) c.1538A>G (p.Glu513Gly) c.746A>G (p.Glu249Gly) | ClinVar |
| 8 | g.60836828A>T | CA371316586 | CHD7 | c.4001A>T (p.Glu1334Val) c.1717-25401A>T (n.1717-25401A>T) c.1988A>T (p.Glu663Val) c.1538A>T (p.Glu513Val) c.746A>T (p.Glu249Val) | |
| 8 | g.60836829A= | CA1788113688 | CHD7 | c.4002A= (p.Glu1334=) c.1717-25400A= (n.1717-25400A=) c.1989A= (p.Glu663=) c.1539A= (p.Glu513=) c.747A= (p.Glu249=) | |
| 8 | g.60836829A>C | CA371316588 | CHD7 | c.4002A>C (p.Glu1334Asp) c.1717-25400A>C (n.1717-25400A>C) c.1989A>C (p.Glu663Asp) c.1539A>C (p.Glu513Asp) c.747A>C (p.Glu249Asp) | |
| 8 | g.60836829A>G | CA4760075 | CHD7 | c.4002A>G (p.Glu1334=) c.1717-25400A>G (n.1717-25400A>G) c.1989A>G (p.Glu663=) c.1539A>G (p.Glu513=) c.747A>G (p.Glu249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836829A>T | CA371316589 | CHD7 | c.4002A>T (p.Glu1334Asp) c.1717-25400A>T (n.1717-25400A>T) c.1989A>T (p.Glu663Asp) c.1539A>T (p.Glu513Asp) c.747A>T (p.Glu249Asp) | |
| 8 | g.60836830A>C | CA460846937 | CHD7 | c.4003A>C (p.Arg1335=) c.1717-25399A>C (n.1717-25399A>C) c.1990A>C (p.Arg664=) c.1540A>C (p.Arg514=) c.748A>C (p.Arg250=) | |
| 8 | g.60836830A>G | CA371316590 | CHD7 | c.4003A>G (p.Arg1335Gly) c.1717-25399A>G (n.1717-25399A>G) c.1990A>G (p.Arg664Gly) c.1540A>G (p.Arg514Gly) c.748A>G (p.Arg250Gly) | |
| 8 | g.60836830A>T | CA371316591 | CHD7 | c.4003A>T (p.Arg1335Trp) c.1717-25399A>T (n.1717-25399A>T) c.1990A>T (p.Arg664Trp) c.1540A>T (p.Arg514Trp) c.748A>T (p.Arg250Trp) | |
| 8 | g.60836831G>A | CA371316594 | CHD7 | c.4004G>A (p.Arg1335Lys) c.1717-25398G>A (n.1717-25398G>A) c.1991G>A (p.Arg664Lys) c.1541G>A (p.Arg514Lys) c.749G>A (p.Arg250Lys) | |
| 8 | g.60836831G>C | CA371316592 | CHD7 | c.4004G>C (p.Arg1335Thr) c.1717-25398G>C (n.1717-25398G>C) c.1991G>C (p.Arg664Thr) c.1541G>C (p.Arg514Thr) c.749G>C (p.Arg250Thr) | |
| 8 | g.60836831G>T | CA371316593 | CHD7 | c.4004G>T (p.Arg1335Met) c.1717-25398G>T (n.1717-25398G>T) c.1991G>T (p.Arg664Met) c.1541G>T (p.Arg514Met) c.749G>T (p.Arg250Met) | |
| 8 | g.60836832G>A | CA460846938 | CHD7 | c.4005G>A (p.Arg1335=) c.1717-25397G>A (n.1717-25397G>A) c.1992G>A (p.Arg664=) c.1542G>A (p.Arg514=) c.750G>A (p.Arg250=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836832G>C | CA371316595 | CHD7 | c.4005G>C (p.Arg1335Ser) c.1717-25397G>C (n.1717-25397G>C) c.1992G>C (p.Arg664Ser) c.1542G>C (p.Arg514Ser) c.750G>C (p.Arg250Ser) | |
| 8 | g.60836832G= | CA1788113717 | CHD7 | c.4005G= (p.Arg1335=) c.1717-25397G= (n.1717-25397G=) c.1992G= (p.Arg664=) c.1542G= (p.Arg514=) c.750G= (p.Arg250=) | |
| 8 | g.60836832G>T | CA371316596 | CHD7 | c.4005G>T (p.Arg1335Ser) c.1717-25397G>T (n.1717-25397G>T) c.1992G>T (p.Arg664Ser) c.1542G>T (p.Arg514Ser) c.750G>T (p.Arg250Ser) | |
| 8 | g.60836833A>C | CA371316597 | CHD7 | c.4006A>C (p.Ile1336Leu) c.1717-25396A>C (n.1717-25396A>C) c.1993A>C (p.Ile665Leu) c.1543A>C (p.Ile515Leu) c.751A>C (p.Ile251Leu) | |
| 8 | g.60836833A>G | CA371316598 | CHD7 | c.4006A>G (p.Ile1336Val) c.1717-25396A>G (n.1717-25396A>G) c.1993A>G (p.Ile665Val) c.1543A>G (p.Ile515Val) c.751A>G (p.Ile251Val) | |
| 8 | g.60836833A>T | CA371316599 | CHD7 | c.4006A>T (p.Ile1336Phe) c.1717-25396A>T (n.1717-25396A>T) c.1993A>T (p.Ile665Phe) c.1543A>T (p.Ile515Phe) c.751A>T (p.Ile251Phe) | |
| 8 | g.60836834T>A | CA371316600 | CHD7 | c.4007T>A (p.Ile1336Asn) c.1717-25395T>A (n.1717-25395T>A) c.1994T>A (p.Ile665Asn) c.1544T>A (p.Ile515Asn) c.752T>A (p.Ile251Asn) | |
| 8 | g.60836834T>C | CA371316601 | CHD7 | c.4007T>C (p.Ile1336Thr) c.1717-25395T>C (n.1717-25395T>C) c.1994T>C (p.Ile665Thr) c.1544T>C (p.Ile515Thr) c.752T>C (p.Ile251Thr) | |
| 8 | g.60836834T>G | CA371316602 | CHD7 | c.4007T>G (p.Ile1336Ser) c.1717-25395T>G (n.1717-25395T>G) c.1994T>G (p.Ile665Ser) c.1544T>G (p.Ile515Ser) c.752T>G (p.Ile251Ser) | |
| 8 | g.60836835C>A | CA460846939 | CHD7 | c.4008C>A (p.Ile1336=) c.1717-25394C>A (n.1717-25394C>A) c.1995C>A (p.Ile665=) c.1545C>A (p.Ile515=) c.753C>A (p.Ile251=) | |
| 8 | g.60836835C= | CA1788113719 | CHD7 | c.4008C= (p.Ile1336=) c.1717-25394C= (n.1717-25394C=) c.1995C= (p.Ile665=) c.1545C= (p.Ile515=) c.753C= (p.Ile251=) | |
| 8 | g.60836835C>G | CA371316603 | CHD7 | c.4008C>G (p.Ile1336Met) c.1717-25394C>G (n.1717-25394C>G) c.1995C>G (p.Ile665Met) c.1545C>G (p.Ile515Met) c.753C>G (p.Ile251Met) | gnomAD v4 |
| 8 | g.60836835C>T | CA4760076 | CHD7 | c.4008C>T (p.Ile1336=) c.1717-25394C>T (n.1717-25394C>T) c.1995C>T (p.Ile665=) c.1545C>T (p.Ile515=) c.753C>T (p.Ile251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836836G>A | CA371316604 | CHD7 | c.4009G>A (p.Asp1337Asn) c.1717-25393G>A (n.1717-25393G>A) c.1996G>A (p.Asp666Asn) c.1546G>A (p.Asp516Asn) c.754G>A (p.Asp252Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836836G>C | CA371316605 | CHD7 | c.4009G>C (p.Asp1337His) c.1717-25393G>C (n.1717-25393G>C) c.1996G>C (p.Asp666His) c.1546G>C (p.Asp516His) c.754G>C (p.Asp252His) | |
| 8 | g.60836836G= | CA1788113727 | CHD7 | c.4009G= (p.Asp1337=) c.1717-25393G= (n.1717-25393G=) c.1996G= (p.Asp666=) c.1546G= (p.Asp516=) c.754G= (p.Asp252=) | |
| 8 | g.60836836G>T | CA371316606 | CHD7 | c.4009G>T (p.Asp1337Tyr) c.1717-25393G>T (n.1717-25393G>T) c.1996G>T (p.Asp666Tyr) c.1546G>T (p.Asp516Tyr) c.754G>T (p.Asp252Tyr) | |
| 8 | g.60836837A>C | CA371316607 | CHD7 | c.4010A>C (p.Asp1337Ala) c.1717-25392A>C (n.1717-25392A>C) c.1997A>C (p.Asp666Ala) c.1547A>C (p.Asp516Ala) c.755A>C (p.Asp252Ala) | |
| 8 | g.60836837A>G | CA371316609 | CHD7 | c.4010A>G (p.Asp1337Gly) c.1717-25392A>G (n.1717-25392A>G) c.1997A>G (p.Asp666Gly) c.1547A>G (p.Asp516Gly) c.755A>G (p.Asp252Gly) | |
| 8 | g.60836837A>T | CA371316608 | CHD7 | c.4010A>T (p.Asp1337Val) c.1717-25392A>T (n.1717-25392A>T) c.1997A>T (p.Asp666Val) c.1547A>T (p.Asp516Val) c.755A>T (p.Asp252Val) | |
| 8 | g.60836838C>A | CA371316610 | CHD7 | c.4011C>A (p.Asp1337Glu) c.1717-25391C>A (n.1717-25391C>A) c.1998C>A (p.Asp666Glu) c.1548C>A (p.Asp516Glu) c.756C>A (p.Asp252Glu) | |
| 8 | g.60836838C= | CA1788113731 | CHD7 | c.4011C= (p.Asp1337=) c.1717-25391C= (n.1717-25391C=) c.1998C= (p.Asp666=) c.1548C= (p.Asp516=) c.756C= (p.Asp252=) | |
| 8 | g.60836838C>G | CA371316611 | CHD7 | c.4011C>G (p.Asp1337Glu) c.1717-25391C>G (n.1717-25391C>G) c.1998C>G (p.Asp666Glu) c.1548C>G (p.Asp516Glu) c.756C>G (p.Asp252Glu) | |
| 8 | g.60836838C>T | CA4760077 | CHD7 | c.4011C>T (p.Asp1337=) c.1717-25391C>T (n.1717-25391C>T) c.1998C>T (p.Asp666=) c.1548C>T (p.Asp516=) c.756C>T (p.Asp252=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836839G>A | CA371316612 | CHD7 | c.4012G>A (p.Gly1338Ser) c.1717-25390G>A (n.1717-25390G>A) c.1999G>A (p.Gly667Ser) c.1549G>A (p.Gly517Ser) c.757G>A (p.Gly253Ser) | dbSNP gnomAD v4 COSMIC |
| 8 | g.60836839G>C | CA371316613 | CHD7 | c.4012G>C (p.Gly1338Arg) c.1717-25390G>C (n.1717-25390G>C) c.1999G>C (p.Gly667Arg) c.1549G>C (p.Gly517Arg) c.757G>C (p.Gly253Arg) | |
| 8 | g.60836839G= | CA1788113733 | CHD7 | c.4012G= (p.Gly1338=) c.1717-25390G= (n.1717-25390G=) c.1999G= (p.Gly667=) c.1549G= (p.Gly517=) c.757G= (p.Gly253=) | |
| 8 | g.60836839G>T | CA371316614 | CHD7 | c.4012G>T (p.Gly1338Cys) c.1717-25390G>T (n.1717-25390G>T) c.1999G>T (p.Gly667Cys) c.1549G>T (p.Gly517Cys) c.757G>T (p.Gly253Cys) | |
| 8 | g.60836839_60836840del | CA2695209684 | CHD7 | c.4012_4013del (p.Gly1338ProfsTer18) c.1717-25390_1717-25389del (n.1717-25390_1717-25389del) c.1999_2000del (p.Gly667ProfsTer18) c.1549_1550del (p.Gly517ProfsTer18) c.757_758del (p.Gly253ProfsTer18) | |
| 8 | g.60836840G>A | CA371316615 | CHD7 | c.4013G>A (p.Gly1338Asp) c.1717-25389G>A (n.1717-25389G>A) c.2000G>A (p.Gly667Asp) c.1550G>A (p.Gly517Asp) c.758G>A (p.Gly253Asp) | |
| 8 | g.60836840G>C | CA371316616 | CHD7 | c.4013G>C (p.Gly1338Ala) c.1717-25389G>C (n.1717-25389G>C) c.2000G>C (p.Gly667Ala) c.1550G>C (p.Gly517Ala) c.758G>C (p.Gly253Ala) | |
| 8 | g.60836840G>T | CA371316617 | CHD7 | c.4013G>T (p.Gly1338Val) c.1717-25389G>T (n.1717-25389G>T) c.2000G>T (p.Gly667Val) c.1550G>T (p.Gly517Val) c.758G>T (p.Gly253Val) | |
| 8 | g.60836841C>A | CA460846940 | CHD7 | c.4014C>A (p.Gly1338=) c.1717-25388C>A (n.1717-25388C>A) c.2001C>A (p.Gly667=) c.1551C>A (p.Gly517=) c.759C>A (p.Gly253=) | |
| 8 | g.60836841C= | CA1788113738 | CHD7 | c.4014C= (p.Gly1338=) c.1717-25388C= (n.1717-25388C=) c.2001C= (p.Gly667=) c.1551C= (p.Gly517=) c.759C= (p.Gly253=) | |
| 8 | g.60836841C>G | CA460846941 | CHD7 | c.4014C>G (p.Gly1338=) c.1717-25388C>G (n.1717-25388C>G) c.2001C>G (p.Gly667=) c.1551C>G (p.Gly517=) c.759C>G (p.Gly253=) | |
| 8 | g.60836841C>T | CA4760078 | CHD7 | c.4014C>T (p.Gly1338=) c.1717-25388C>T (n.1717-25388C>T) c.2001C>T (p.Gly667=) c.1551C>T (p.Gly517=) c.759C>T (p.Gly253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836842C>A | CA460846942 | CHD7 | c.4015C>A (p.Arg1339=) c.1717-25387C>A (n.1717-25387C>A) c.2002C>A (p.Arg668=) c.1552C>A (p.Arg518=) c.760C>A (p.Arg254=) | |
| 8 | g.60836842C= | CA1788113743 | CHD7 | c.4015C= (p.Arg1339=) c.1717-25387C= (n.1717-25387C=) c.2002C= (p.Arg668=) c.1552C= (p.Arg518=) c.760C= (p.Arg254=) | |
| 8 | g.60836842C>G | CA371316618 | CHD7 | c.4015C>G (p.Arg1339Gly) c.1717-25387C>G (n.1717-25387C>G) c.2002C>G (p.Arg668Gly) c.1552C>G (p.Arg518Gly) c.760C>G (p.Arg254Gly) | |
| 8 | g.60836842C>T | CA371316619 | CHD7 | c.4015C>T (p.Arg1339Ter) c.1717-25387C>T (n.1717-25387C>T) c.2002C>T (p.Arg668Ter) c.1552C>T (p.Arg518Ter) c.760C>T (p.Arg254Ter) | ClinVar dbSNP |
| 8 | g.60836843G>A | CA4760079 | CHD7 | c.4016G>A (p.Arg1339Gln) c.1717-25386G>A (n.1717-25386G>A) c.2003G>A (p.Arg668Gln) c.1553G>A (p.Arg518Gln) c.761G>A (p.Arg254Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60836843G>C | CA371316621 | CHD7 | c.4016G>C (p.Arg1339Pro) c.1717-25386G>C (n.1717-25386G>C) c.2003G>C (p.Arg668Pro) c.1553G>C (p.Arg518Pro) c.761G>C (p.Arg254Pro) | |
| 8 | g.60836843G= | CA1788113751 | CHD7 | c.4016G= (p.Arg1339=) c.1717-25386G= (n.1717-25386G=) c.2003G= (p.Arg668=) c.1553G= (p.Arg518=) c.761G= (p.Arg254=) | |
| 8 | g.60836843G>T | CA371316620 | CHD7 | c.4016G>T (p.Arg1339Leu) c.1717-25386G>T (n.1717-25386G>T) c.2003G>T (p.Arg668Leu) c.1553G>T (p.Arg518Leu) c.761G>T (p.Arg254Leu) | |
| 8 | g.60836844A>C | CA460846943 | CHD7 | c.4017A>C (p.Arg1339=) c.1717-25385A>C (n.1717-25385A>C) c.2004A>C (p.Arg668=) c.1554A>C (p.Arg518=) c.762A>C (p.Arg254=) | |
| 8 | g.60836844A>G | CA460846944 | CHD7 | c.4017A>G (p.Arg1339=) c.1717-25385A>G (n.1717-25385A>G) c.2004A>G (p.Arg668=) c.1554A>G (p.Arg518=) c.762A>G (p.Arg254=) | |
| 8 | g.60836844A>T | CA460846945 | CHD7 | c.4017A>T (p.Arg1339=) c.1717-25385A>T (n.1717-25385A>T) c.2004A>T (p.Arg668=) c.1554A>T (p.Arg518=) c.762A>T (p.Arg254=) | |
| 8 | g.60836845G>A | CA371316622 | CHD7 | c.4018G>A (p.Val1340Ile) c.1717-25384G>A (n.1717-25384G>A) c.2005G>A (p.Val669Ile) c.1555G>A (p.Val519Ile) c.763G>A (p.Val255Ile) | dbSNP gnomAD v4 |
| 8 | g.60836845G>C | CA371316623 | CHD7 | c.4018G>C (p.Val1340Leu) c.1717-25384G>C (n.1717-25384G>C) c.2005G>C (p.Val669Leu) c.1555G>C (p.Val519Leu) c.763G>C (p.Val255Leu) | |
| 8 | g.60836845G= | CA1788113755 | CHD7 | c.4018G= (p.Val1340=) c.1717-25384G= (n.1717-25384G=) c.2005G= (p.Val669=) c.1555G= (p.Val519=) c.763G= (p.Val255=) | |
| 8 | g.60836845G>T | CA371316624 | CHD7 | c.4018G>T (p.Val1340Leu) c.1717-25384G>T (n.1717-25384G>T) c.2005G>T (p.Val669Leu) c.1555G>T (p.Val519Leu) c.763G>T (p.Val255Leu) | |
| 8 | g.60836846T>A | CA371316625 | CHD7 | c.4019T>A (p.Val1340Glu) c.1717-25383T>A (n.1717-25383T>A) c.2006T>A (p.Val669Glu) c.1556T>A (p.Val519Glu) c.764T>A (p.Val255Glu) | |
| 8 | g.60836846T>C | CA371316626 | CHD7 | c.4019T>C (p.Val1340Ala) c.1717-25383T>C (n.1717-25383T>C) c.2006T>C (p.Val669Ala) c.1556T>C (p.Val519Ala) c.764T>C (p.Val255Ala) | |
| 8 | g.60836846T>G | CA371316627 | CHD7 | c.4019T>G (p.Val1340Gly) c.1717-25383T>G (n.1717-25383T>G) c.2006T>G (p.Val669Gly) c.1556T>G (p.Val519Gly) c.764T>G (p.Val255Gly) | |
| 8 | g.60836847A= | CA1788113762 | CHD7 | c.4020A= (p.Val1340=) c.1717-25382A= (n.1717-25382A=) c.2007A= (p.Val669=) c.1557A= (p.Val519=) c.765A= (p.Val255=) | |
| 8 | g.60836847A>C | CA460846946 | CHD7 | c.4020A>C (p.Val1340=) c.1717-25382A>C (n.1717-25382A>C) c.2007A>C (p.Val669=) c.1557A>C (p.Val519=) c.765A>C (p.Val255=) | |
| 8 | g.60836847A>G | CA460846948 | CHD7 | c.4020A>G (p.Val1340=) c.1717-25382A>G (n.1717-25382A>G) c.2007A>G (p.Val669=) c.1557A>G (p.Val519=) c.765A>G (p.Val255=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60836847A>T | CA460846947 | CHD7 | c.4020A>T (p.Val1340=) c.1717-25382A>T (n.1717-25382A>T) c.2007A>T (p.Val669=) c.1557A>T (p.Val519=) c.765A>T (p.Val255=) | |
| 8 | g.60836848A= | CA1788113768 | CHD7 | c.4021A= (p.Arg1341=) c.1717-25381A= (n.1717-25381A=) c.2008A= (p.Arg670=) c.1558A= (p.Arg520=) c.766A= (p.Arg256=) | |
| 8 | g.60836848A>C | CA460846949 | CHD7 | c.4021A>C (p.Arg1341=) c.1717-25381A>C (n.1717-25381A>C) c.2008A>C (p.Arg670=) c.1558A>C (p.Arg520=) c.766A>C (p.Arg256=) | |
| 8 | g.60836848A>G | CA371316628 | CHD7 | c.4021A>G (p.Arg1341Gly) c.1717-25381A>G (n.1717-25381A>G) c.2008A>G (p.Arg670Gly) c.1558A>G (p.Arg520Gly) c.766A>G (p.Arg256Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836848A>T | CA371316629 | CHD7 | c.4021A>T (p.Arg1341Ter) c.1717-25381A>T (n.1717-25381A>T) c.2008A>T (p.Arg670Ter) c.1558A>T (p.Arg520Ter) c.766A>T (p.Arg256Ter) | |
| 8 | g.60836849G>A | CA371316630 | CHD7 | c.4022G>A (p.Arg1341Lys) c.1717-25380G>A (n.1717-25380G>A) c.2009G>A (p.Arg670Lys) c.1559G>A (p.Arg520Lys) c.767G>A (p.Arg256Lys) | gnomAD v4 COSMIC |
| 8 | g.60836849G>C | CA371316631 | CHD7 | c.4022G>C (p.Arg1341Thr) c.1717-25380G>C (n.1717-25380G>C) c.2009G>C (p.Arg670Thr) c.1559G>C (p.Arg520Thr) c.767G>C (p.Arg256Thr) | |
| 8 | g.60836849G>T | CA371316632 | CHD7 | c.4022G>T (p.Arg1341Ile) c.1717-25380G>T (n.1717-25380G>T) c.2009G>T (p.Arg670Ile) c.1559G>T (p.Arg520Ile) c.767G>T (p.Arg256Ile) | |
| 8 | g.60836850A>C | CA371316633 | CHD7 | c.4023A>C (p.Arg1341Ser) c.1717-25379A>C (n.1717-25379A>C) c.2010A>C (p.Arg670Ser) c.1560A>C (p.Arg520Ser) c.768A>C (p.Arg256Ser) | gnomAD v4 |
| 8 | g.60836850A>G | CA460846950 | CHD7 | c.4023A>G (p.Arg1341=) c.1717-25379A>G (n.1717-25379A>G) c.2010A>G (p.Arg670=) c.1560A>G (p.Arg520=) c.768A>G (p.Arg256=) | |
| 8 | g.60836850A>T | CA371316634 | CHD7 | c.4023A>T (p.Arg1341Ser) c.1717-25379A>T (n.1717-25379A>T) c.2010A>T (p.Arg670Ser) c.1560A>T (p.Arg520Ser) c.768A>T (p.Arg256Ser) | |
| 8 | g.60836851G>A | CA371316635 | CHD7 | c.4024G>A (p.Gly1342Ser) c.1717-25378G>A (n.1717-25378G>A) c.2011G>A (p.Gly671Ser) c.1561G>A (p.Gly521Ser) c.769G>A (p.Gly257Ser) | COSMIC |
| 8 | g.60836851G>C | CA371316637 | CHD7 | c.4024G>C (p.Gly1342Arg) c.1717-25378G>C (n.1717-25378G>C) c.2011G>C (p.Gly671Arg) c.1561G>C (p.Gly521Arg) c.769G>C (p.Gly257Arg) | |
| 8 | g.60836851G>T | CA371316636 | CHD7 | c.4024G>T (p.Gly1342Cys) c.1717-25378G>T (n.1717-25378G>T) c.2011G>T (p.Gly671Cys) c.1561G>T (p.Gly521Cys) c.769G>T (p.Gly257Cys) | |
| 8 | g.60836852G>A | CA371316638 | CHD7 | c.4025G>A (p.Gly1342Asp) c.1717-25377G>A (n.1717-25377G>A) c.2012G>A (p.Gly671Asp) c.1562G>A (p.Gly521Asp) c.770G>A (p.Gly257Asp) | gnomAD v4 |
| 8 | g.60836852G>C | CA371316640 | CHD7 | c.4025G>C (p.Gly1342Ala) c.1717-25377G>C (n.1717-25377G>C) c.2012G>C (p.Gly671Ala) c.1562G>C (p.Gly521Ala) c.770G>C (p.Gly257Ala) | |
| 8 | g.60836852G>T | CA371316639 | CHD7 | c.4025G>T (p.Gly1342Val) c.1717-25377G>T (n.1717-25377G>T) c.2012G>T (p.Gly671Val) c.1562G>T (p.Gly521Val) c.770G>T (p.Gly257Val) | |
| 8 | g.60836853C>A | CA460846951 | CHD7 | c.4026C>A (p.Gly1342=) c.1717-25376C>A (n.1717-25376C>A) c.2013C>A (p.Gly671=) c.1563C>A (p.Gly521=) c.771C>A (p.Gly257=) | |
| 8 | g.60836853C= | CA1788113773 | CHD7 | c.4026C= (p.Gly1342=) c.1717-25376C= (n.1717-25376C=) c.2013C= (p.Gly671=) c.1563C= (p.Gly521=) c.771C= (p.Gly257=) | |
| 8 | g.60836853C>G | CA460846952 | CHD7 | c.4026C>G (p.Gly1342=) c.1717-25376C>G (n.1717-25376C>G) c.2013C>G (p.Gly671=) c.1563C>G (p.Gly521=) c.771C>G (p.Gly257=) | |
| 8 | g.60836853C>T | CA16605243 | CHD7 | c.4026C>T (p.Gly1342=) c.1717-25376C>T (n.1717-25376C>T) c.2013C>T (p.Gly671=) c.1563C>T (p.Gly521=) c.771C>T (p.Gly257=) | ClinVar dbSNP gnomAD v2 |
| 8 | g.60836854A>C | CA371316641 | CHD7 | c.4027A>C (p.Asn1343His) c.1717-25375A>C (n.1717-25375A>C) c.2014A>C (p.Asn672His) c.1564A>C (p.Asn522His) c.772A>C (p.Asn258His) | |
| 8 | g.60836854A>G | CA371316642 | CHD7 | c.4027A>G (p.Asn1343Asp) c.1717-25375A>G (n.1717-25375A>G) c.2014A>G (p.Asn672Asp) c.1564A>G (p.Asn522Asp) c.772A>G (p.Asn258Asp) | |
| 8 | g.60836854A>T | CA371316643 | CHD7 | c.4027A>T (p.Asn1343Tyr) c.1717-25375A>T (n.1717-25375A>T) c.2014A>T (p.Asn672Tyr) c.1564A>T (p.Asn522Tyr) c.772A>T (p.Asn258Tyr) | |
| 8 | g.60836855A= | CA1788113782 | CHD7 | c.4028A= (p.Asn1343=) c.1717-25374A= (n.1717-25374A=) c.2015A= (p.Asn672=) c.1565A= (p.Asn522=) c.773A= (p.Asn258=) | |
| 8 | g.60836855A>C | CA371316644 | CHD7 | c.4028A>C (p.Asn1343Thr) c.1717-25374A>C (n.1717-25374A>C) c.2015A>C (p.Asn672Thr) c.1565A>C (p.Asn522Thr) c.773A>C (p.Asn258Thr) | |
| 8 | g.60836855A>G | CA4760080 | CHD7 | c.4028A>G (p.Asn1343Ser) c.1717-25374A>G (n.1717-25374A>G) c.2015A>G (p.Asn672Ser) c.1565A>G (p.Asn522Ser) c.773A>G (p.Asn258Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836855A>T | CA371316645 | CHD7 | c.4028A>T (p.Asn1343Ile) c.1717-25374A>T (n.1717-25374A>T) c.2015A>T (p.Asn672Ile) c.1565A>T (p.Asn522Ile) c.773A>T (p.Asn258Ile) | |
| 8 | g.60836856C>A | CA371316646 | CHD7 | c.4029C>A (p.Asn1343Lys) c.1717-25373C>A (n.1717-25373C>A) c.2016C>A (p.Asn672Lys) c.1566C>A (p.Asn522Lys) c.774C>A (p.Asn258Lys) | |
| 8 | g.60836856C>G | CA371316647 | CHD7 | c.4029C>G (p.Asn1343Lys) c.1717-25373C>G (n.1717-25373C>G) c.2016C>G (p.Asn672Lys) c.1566C>G (p.Asn522Lys) c.774C>G (p.Asn258Lys) | |
| 8 | g.60836856C>T | CA460846953 | CHD7 | c.4029C>T (p.Asn1343=) c.1717-25373C>T (n.1717-25373C>T) c.2016C>T (p.Asn672=) c.1566C>T (p.Asn522=) c.774C>T (p.Asn258=) | gnomAD v4 |
| 8 | g.60836857C>A | CA371316648 | CHD7 | c.4030C>A (p.Leu1344Ile) c.1717-25372C>A (n.1717-25372C>A) c.2017C>A (p.Leu673Ile) c.1567C>A (p.Leu523Ile) c.775C>A (p.Leu259Ile) | |
| 8 | g.60836857C= | CA1788113790 | CHD7 | c.4030C= (p.Leu1344=) c.1717-25372C= (n.1717-25372C=) c.2017C= (p.Leu673=) c.1567C= (p.Leu523=) c.775C= (p.Leu259=) | |
| 8 | g.60836857C>G | CA371316649 | CHD7 | c.4030C>G (p.Leu1344Val) c.1717-25372C>G (n.1717-25372C>G) c.2017C>G (p.Leu673Val) c.1567C>G (p.Leu523Val) c.775C>G (p.Leu259Val) | gnomAD v4 |
| 8 | g.60836857C>T | CA371316650 | CHD7 | c.4030C>T (p.Leu1344Phe) c.1717-25372C>T (n.1717-25372C>T) c.2017C>T (p.Leu673Phe) c.1567C>T (p.Leu523Phe) c.775C>T (p.Leu259Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836858T>A | CA371316653 | CHD7 | c.4031T>A (p.Leu1344His) c.1717-25371T>A (n.1717-25371T>A) c.2018T>A (p.Leu673His) c.1568T>A (p.Leu523His) c.776T>A (p.Leu259His) | |
| 8 | g.60836858T>C | CA371316652 | CHD7 | c.4031T>C (p.Leu1344Pro) c.1717-25371T>C (n.1717-25371T>C) c.2018T>C (p.Leu673Pro) c.1568T>C (p.Leu523Pro) c.776T>C (p.Leu259Pro) | |
| 8 | g.60836858T>G | CA371316651 | CHD7 | c.4031T>G (p.Leu1344Arg) c.1717-25371T>G (n.1717-25371T>G) c.2018T>G (p.Leu673Arg) c.1568T>G (p.Leu523Arg) c.776T>G (p.Leu259Arg) | |
| 8 | g.60836859C>A | CA460846954 | CHD7 | c.4032C>A (p.Leu1344=) c.1717-25370C>A (n.1717-25370C>A) c.2019C>A (p.Leu673=) c.1569C>A (p.Leu523=) c.777C>A (p.Leu259=) | COSMIC |
| 8 | g.60836859C= | CA1788113796 | CHD7 | c.4032C= (p.Leu1344=) c.1717-25370C= (n.1717-25370C=) c.2019C= (p.Leu673=) c.1569C= (p.Leu523=) c.777C= (p.Leu259=) | |
| 8 | g.60836859C>G | CA460846955 | CHD7 | c.4032C>G (p.Leu1344=) c.1717-25370C>G (n.1717-25370C>G) c.2019C>G (p.Leu673=) c.1569C>G (p.Leu523=) c.777C>G (p.Leu259=) | |
| 8 | g.60836859C>T | CA460846956 | CHD7 | c.4032C>T (p.Leu1344=) c.1717-25370C>T (n.1717-25370C>T) c.2019C>T (p.Leu673=) c.1569C>T (p.Leu523=) c.777C>T (p.Leu259=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836860C>A | CA371316654 | CHD7 | c.4033C>A (p.Arg1345Ser) c.1717-25369C>A (n.1717-25369C>A) c.2020C>A (p.Arg674Ser) c.1570C>A (p.Arg524Ser) c.778C>A (p.Arg260Ser) | |
| 8 | g.60836860C= | CA1788113805 | CHD7 | c.4033C= (p.Arg1345=) c.1717-25369C= (n.1717-25369C=) c.2020C= (p.Arg674=) c.1570C= (p.Arg524=) c.778C= (p.Arg260=) | |
| 8 | g.60836860C>G | CA371316655 | CHD7 | c.4033C>G (p.Arg1345Gly) c.1717-25369C>G (n.1717-25369C>G) c.2020C>G (p.Arg674Gly) c.1570C>G (p.Arg524Gly) c.778C>G (p.Arg260Gly) | |
| 8 | g.60836860C>T | CA371316656 | CHD7 | c.4033C>T (p.Arg1345Cys) c.1717-25369C>T (n.1717-25369C>T) c.2020C>T (p.Arg674Cys) c.1570C>T (p.Arg524Cys) c.778C>T (p.Arg260Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60836861G>A | CA371316657 | CHD7 | c.4034G>A (p.Arg1345His) c.1717-25368G>A (n.1717-25368G>A) c.2021G>A (p.Arg674His) c.1571G>A (p.Arg524His) c.779G>A (p.Arg260His) | dbSNP gnomAD v4 |
| 8 | g.60836861G>C | CA371316658 | CHD7 | c.4034G>C (p.Arg1345Pro) c.1717-25368G>C (n.1717-25368G>C) c.2021G>C (p.Arg674Pro) c.1571G>C (p.Arg524Pro) c.779G>C (p.Arg260Pro) | |
| 8 | g.60836861G= | CA1788113830 | CHD7 | c.4034G= (p.Arg1345=) c.1717-25368G= (n.1717-25368G=) c.2021G= (p.Arg674=) c.1571G= (p.Arg524=) c.779G= (p.Arg260=) | |
| 8 | g.60836861G>T | CA371316659 | CHD7 | c.4034G>T (p.Arg1345Leu) c.1717-25368G>T (n.1717-25368G>T) c.2021G>T (p.Arg674Leu) c.1571G>T (p.Arg524Leu) c.779G>T (p.Arg260Leu) | ClinVar dbSNP |
| 8 | g.60836862C>A | CA460846957 | CHD7 | c.4035C>A (p.Arg1345=) c.1717-25367C>A (n.1717-25367C>A) c.2022C>A (p.Arg674=) c.1572C>A (p.Arg524=) c.780C>A (p.Arg260=) | |
| 8 | g.60836862C>G | CA460846958 | CHD7 | c.4035C>G (p.Arg1345=) c.1717-25367C>G (n.1717-25367C>G) c.2022C>G (p.Arg674=) c.1572C>G (p.Arg524=) c.780C>G (p.Arg260=) | |
| 8 | g.60836862C>T | CA460846959 | CHD7 | c.4035C>T (p.Arg1345=) c.1717-25367C>T (n.1717-25367C>T) c.2022C>T (p.Arg674=) c.1572C>T (p.Arg524=) c.780C>T (p.Arg260=) | |
| 8 | g.60836863C>A | CA371316660 | CHD7 | c.4036C>A (p.Gln1346Lys) c.1717-25366C>A (n.1717-25366C>A) c.2023C>A (p.Gln675Lys) c.1573C>A (p.Gln525Lys) c.781C>A (p.Gln261Lys) | |
| 8 | g.60836863C>G | CA371316661 | CHD7 | c.4036C>G (p.Gln1346Glu) c.1717-25366C>G (n.1717-25366C>G) c.2023C>G (p.Gln675Glu) c.1573C>G (p.Gln525Glu) c.781C>G (p.Gln261Glu) | |
| 8 | g.60836863C>T | CA371316662 | CHD7 | c.4036C>T (p.Gln1346Ter) c.1717-25366C>T (n.1717-25366C>T) c.2023C>T (p.Gln675Ter) c.1573C>T (p.Gln525Ter) c.781C>T (p.Gln261Ter) | ClinVar dbSNP |
| 8 | g.60836864A>C | CA371316663 | CHD7 | c.4037A>C (p.Gln1346Pro) c.1717-25365A>C (n.1717-25365A>C) c.2024A>C (p.Gln675Pro) c.1574A>C (p.Gln525Pro) c.782A>C (p.Gln261Pro) | |
| 8 | g.60836864A>G | CA371316664 | CHD7 | c.4037A>G (p.Gln1346Arg) c.1717-25365A>G (n.1717-25365A>G) c.2024A>G (p.Gln675Arg) c.1574A>G (p.Gln525Arg) c.782A>G (p.Gln261Arg) | |
| 8 | g.60836864A>T | CA371316665 | CHD7 | c.4037A>T (p.Gln1346Leu) c.1717-25365A>T (n.1717-25365A>T) c.2024A>T (p.Gln675Leu) c.1574A>T (p.Gln525Leu) c.782A>T (p.Gln261Leu) | |
| 8 | g.60836865G>A | CA460846960 | CHD7 | c.4038G>A (p.Gln1346=) c.1717-25364G>A (n.1717-25364G>A) c.2025G>A (p.Gln675=) c.1575G>A (p.Gln525=) c.783G>A (p.Gln261=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836865G>C | CA371316666 | CHD7 | c.4038G>C (p.Gln1346His) c.1717-25364G>C (n.1717-25364G>C) c.2025G>C (p.Gln675His) c.1575G>C (p.Gln525His) c.783G>C (p.Gln261His) | |
| 8 | g.60836865G= | CA1788113843 | CHD7 | c.4038G= (p.Gln1346=) c.1717-25364G= (n.1717-25364G=) c.2025G= (p.Gln675=) c.1575G= (p.Gln525=) c.783G= (p.Gln261=) | |
| 8 | g.60836865G>T | CA371316667 | CHD7 | c.4038G>T (p.Gln1346His) c.1717-25364G>T (n.1717-25364G>T) c.2025G>T (p.Gln675His) c.1575G>T (p.Gln525His) c.783G>T (p.Gln261His) | |
| 8 | g.60836866G>A | CA371316668 | CHD7 | c.4039G>A (p.Ala1347Thr) c.1717-25363G>A (n.1717-25363G>A) c.2026G>A (p.Ala676Thr) c.1576G>A (p.Ala526Thr) c.784G>A (p.Ala262Thr) | ClinVar dbSNP |
| 8 | g.60836866G>C | CA371316669 | CHD7 | c.4039G>C (p.Ala1347Pro) c.1717-25363G>C (n.1717-25363G>C) c.2026G>C (p.Ala676Pro) c.1576G>C (p.Ala526Pro) c.784G>C (p.Ala262Pro) | |
| 8 | g.60836866G= | CA1788113868 | CHD7 | c.4039G= (p.Ala1347=) c.1717-25363G= (n.1717-25363G=) c.2026G= (p.Ala676=) c.1576G= (p.Ala526=) c.784G= (p.Ala262=) | |
| 8 | g.60836866G>T | CA371316670 | CHD7 | c.4039G>T (p.Ala1347Ser) c.1717-25363G>T (n.1717-25363G>T) c.2026G>T (p.Ala676Ser) c.1576G>T (p.Ala526Ser) c.784G>T (p.Ala262Ser) | |
| 8 | g.60836867C>A | CA371316671 | CHD7 | c.4040C>A (p.Ala1347Glu) c.1717-25362C>A (n.1717-25362C>A) c.2027C>A (p.Ala676Glu) c.1577C>A (p.Ala526Glu) c.785C>A (p.Ala262Glu) | |
| 8 | g.60836867C= | CA1788113887 | CHD7 | c.4040C= (p.Ala1347=) c.1717-25362C= (n.1717-25362C=) c.2027C= (p.Ala676=) c.1577C= (p.Ala526=) c.785C= (p.Ala262=) | |
| 8 | g.60836867C>G | CA371316672 | CHD7 | c.4040C>G (p.Ala1347Gly) c.1717-25362C>G (n.1717-25362C>G) c.2027C>G (p.Ala676Gly) c.1577C>G (p.Ala526Gly) c.785C>G (p.Ala262Gly) | |
| 8 | g.60836867C>T | CA371316673 | CHD7 | c.4040C>T (p.Ala1347Val) c.1717-25362C>T (n.1717-25362C>T) c.2027C>T (p.Ala676Val) c.1577C>T (p.Ala526Val) c.785C>T (p.Ala262Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836868A>C | CA460846961 | CHD7 | c.4041A>C (p.Ala1347=) c.1717-25361A>C (n.1717-25361A>C) c.2028A>C (p.Ala676=) c.1578A>C (p.Ala526=) c.786A>C (p.Ala262=) | |
| 8 | g.60836868A>G | CA460846962 | CHD7 | c.4041A>G (p.Ala1347=) c.1717-25361A>G (n.1717-25361A>G) c.2028A>G (p.Ala676=) c.1578A>G (p.Ala526=) c.786A>G (p.Ala262=) | |
| 8 | g.60836868A>T | CA460846963 | CHD7 | c.4041A>T (p.Ala1347=) c.1717-25361A>T (n.1717-25361A>T) c.2028A>T (p.Ala676=) c.1578A>T (p.Ala526=) c.786A>T (p.Ala262=) | |
| 8 | g.60836869G>A | CA371316674 | CHD7 | c.4042G>A (p.Ala1348Thr) c.1717-25360G>A (n.1717-25360G>A) c.2029G>A (p.Ala677Thr) c.1579G>A (p.Ala527Thr) c.787G>A (p.Ala263Thr) | |
| 8 | g.60836869G>C | CA371316675 | CHD7 | c.4042G>C (p.Ala1348Pro) c.1717-25360G>C (n.1717-25360G>C) c.2029G>C (p.Ala677Pro) c.1579G>C (p.Ala527Pro) c.787G>C (p.Ala263Pro) | |
| 8 | g.60836869G>T | CA371316676 | CHD7 | c.4042G>T (p.Ala1348Ser) c.1717-25360G>T (n.1717-25360G>T) c.2029G>T (p.Ala677Ser) c.1579G>T (p.Ala527Ser) c.787G>T (p.Ala263Ser) | |
| 8 | g.60836870C>A | CA371316677 | CHD7 | c.4043C>A (p.Ala1348Asp) c.1717-25359C>A (n.1717-25359C>A) c.2030C>A (p.Ala677Asp) c.1580C>A (p.Ala527Asp) c.788C>A (p.Ala263Asp) | |
| 8 | g.60836870C>G | CA371316678 | CHD7 | c.4043C>G (p.Ala1348Gly) c.1717-25359C>G (n.1717-25359C>G) c.2030C>G (p.Ala677Gly) c.1580C>G (p.Ala527Gly) c.788C>G (p.Ala263Gly) | |
| 8 | g.60836870C>T | CA371316679 | CHD7 | c.4043C>T (p.Ala1348Val) c.1717-25359C>T (n.1717-25359C>T) c.2030C>T (p.Ala677Val) c.1580C>T (p.Ala527Val) c.788C>T (p.Ala263Val) | |
| 8 | g.60836871T>A | CA460846964 | CHD7 | c.4044T>A (p.Ala1348=) c.1717-25358T>A (n.1717-25358T>A) c.2031T>A (p.Ala677=) c.1581T>A (p.Ala527=) c.789T>A (p.Ala263=) | |
| 8 | g.60836871T>C | CA460846965 | CHD7 | c.4044T>C (p.Ala1348=) c.1717-25358T>C (n.1717-25358T>C) c.2031T>C (p.Ala677=) c.1581T>C (p.Ala527=) c.789T>C (p.Ala263=) | |
| 8 | g.60836871T>G | CA460846966 | CHD7 | c.4044T>G (p.Ala1348=) c.1717-25358T>G (n.1717-25358T>G) c.2031T>G (p.Ala677=) c.1581T>G (p.Ala527=) c.789T>G (p.Ala263=) | |
| 8 | g.60836872A>C | CA371316682 | CHD7 | c.4045A>C (p.Ile1349Leu) c.1717-25357A>C (n.1717-25357A>C) c.2032A>C (p.Ile678Leu) c.1582A>C (p.Ile528Leu) c.790A>C (p.Ile264Leu) | |
| 8 | g.60836872A>G | CA371316681 | CHD7 | c.4045A>G (p.Ile1349Val) c.1717-25357A>G (n.1717-25357A>G) c.2032A>G (p.Ile678Val) c.1582A>G (p.Ile528Val) c.790A>G (p.Ile264Val) | |
| 8 | g.60836872A>T | CA371316680 | CHD7 | c.4045A>T (p.Ile1349Phe) c.1717-25357A>T (n.1717-25357A>T) c.2032A>T (p.Ile678Phe) c.1582A>T (p.Ile528Phe) c.790A>T (p.Ile264Phe) | |
| 8 | g.60836873T>A | CA371316683 | CHD7 | c.4046T>A (p.Ile1349Asn) c.1717-25356T>A (n.1717-25356T>A) c.2033T>A (p.Ile678Asn) c.1583T>A (p.Ile528Asn) c.791T>A (p.Ile264Asn) | |
| 8 | g.60836873T>C | CA371316684 | CHD7 | c.4046T>C (p.Ile1349Thr) c.1717-25356T>C (n.1717-25356T>C) c.2033T>C (p.Ile678Thr) c.1583T>C (p.Ile528Thr) c.791T>C (p.Ile264Thr) | |
| 8 | g.60836873T>G | CA371316685 | CHD7 | c.4046T>G (p.Ile1349Ser) c.1717-25356T>G (n.1717-25356T>G) c.2033T>G (p.Ile678Ser) c.1583T>G (p.Ile528Ser) c.791T>G (p.Ile264Ser) | |
| 8 | g.60836874C>A | CA460846967 | CHD7 | c.4047C>A (p.Ile1349=) c.1717-25355C>A (n.1717-25355C>A) c.2034C>A (p.Ile678=) c.1584C>A (p.Ile528=) c.792C>A (p.Ile264=) | |
| 8 | g.60836874C= | CA1788113893 | CHD7 | c.4047C= (p.Ile1349=) c.1717-25355C= (n.1717-25355C=) c.2034C= (p.Ile678=) c.1584C= (p.Ile528=) c.792C= (p.Ile264=) | |
| 8 | g.60836874C>G | CA371316686 | CHD7 | c.4047C>G (p.Ile1349Met) c.1717-25355C>G (n.1717-25355C>G) c.2034C>G (p.Ile678Met) c.1584C>G (p.Ile528Met) c.792C>G (p.Ile264Met) | |
| 8 | g.60836874C>T | CA4760081 | CHD7 | c.4047C>T (p.Ile1349=) c.1717-25355C>T (n.1717-25355C>T) c.2034C>T (p.Ile678=) c.1584C>T (p.Ile528=) c.792C>T (p.Ile264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836875G>A | CA371316687 | CHD7 | c.4048G>A (p.Asp1350Asn) c.1717-25354G>A (n.1717-25354G>A) c.2035G>A (p.Asp679Asn) c.1585G>A (p.Asp529Asn) c.793G>A (p.Asp265Asn) | dbSNP gnomAD v4 |
| 8 | g.60836875G>C | CA371316688 | CHD7 | c.4048G>C (p.Asp1350His) c.1717-25354G>C (n.1717-25354G>C) c.2035G>C (p.Asp679His) c.1585G>C (p.Asp529His) c.793G>C (p.Asp265His) | |
| 8 | g.60836875G= | CA1788113906 | CHD7 | c.4048G= (p.Asp1350=) c.1717-25354G= (n.1717-25354G=) c.2035G= (p.Asp679=) c.1585G= (p.Asp529=) c.793G= (p.Asp265=) | |
| 8 | g.60836875G>T | CA371316689 | CHD7 | c.4048G>T (p.Asp1350Tyr) c.1717-25354G>T (n.1717-25354G>T) c.2035G>T (p.Asp679Tyr) c.1585G>T (p.Asp529Tyr) c.793G>T (p.Asp265Tyr) | |
| 8 | g.60836876A= | CA1788113911 | CHD7 | c.4049A= (p.Asp1350=) c.1717-25353A= (n.1717-25353A=) c.2036A= (p.Asp679=) c.1586A= (p.Asp529=) c.794A= (p.Asp265=) | |
| 8 | g.60836876A>C | CA371316690 | CHD7 | c.4049A>C (p.Asp1350Ala) c.1717-25353A>C (n.1717-25353A>C) c.2036A>C (p.Asp679Ala) c.1586A>C (p.Asp529Ala) c.794A>C (p.Asp265Ala) | dbSNP |
| 8 | g.60836876A>G | CA371316691 | CHD7 | c.4049A>G (p.Asp1350Gly) c.1717-25353A>G (n.1717-25353A>G) c.2036A>G (p.Asp679Gly) c.1586A>G (p.Asp529Gly) c.794A>G (p.Asp265Gly) | |
| 8 | g.60836876A>T | CA371316692 | CHD7 | c.4049A>T (p.Asp1350Val) c.1717-25353A>T (n.1717-25353A>T) c.2036A>T (p.Asp679Val) c.1586A>T (p.Asp529Val) c.794A>T (p.Asp265Val) | |
| 8 | g.60836877C>A | CA371316693 | CHD7 | c.4050C>A (p.Asp1350Glu) c.1717-25352C>A (n.1717-25352C>A) c.2037C>A (p.Asp679Glu) c.1587C>A (p.Asp529Glu) c.795C>A (p.Asp265Glu) | |
| 8 | g.60836877C>G | CA371316694 | CHD7 | c.4050C>G (p.Asp1350Glu) c.1717-25352C>G (n.1717-25352C>G) c.2037C>G (p.Asp679Glu) c.1587C>G (p.Asp529Glu) c.795C>G (p.Asp265Glu) | |
| 8 | g.60836877C>T | CA460846968 | CHD7 | c.4050C>T (p.Asp1350=) c.1717-25352C>T (n.1717-25352C>T) c.2037C>T (p.Asp679=) c.1587C>T (p.Asp529=) c.795C>T (p.Asp265=) | |
| 8 | g.60836878A>C | CA460846969 | CHD7 | c.4051A>C (p.Arg1351=) c.1717-25351A>C (n.1717-25351A>C) c.2038A>C (p.Arg680=) c.1588A>C (p.Arg530=) c.796A>C (p.Arg266=) | |
| 8 | g.60836878A>G | CA371316696 | CHD7 | c.4051A>G (p.Arg1351Gly) c.1717-25351A>G (n.1717-25351A>G) c.2038A>G (p.Arg680Gly) c.1588A>G (p.Arg530Gly) c.796A>G (p.Arg266Gly) | |
| 8 | g.60836878A>T | CA371316695 | CHD7 | c.4051A>T (p.Arg1351Ter) c.1717-25351A>T (n.1717-25351A>T) c.2038A>T (p.Arg680Ter) c.1588A>T (p.Arg530Ter) c.796A>T (p.Arg266Ter) | |
| 8 | g.60836879G>A | CA371316697 | CHD7 | c.4052G>A (p.Arg1351Lys) c.1717-25350G>A (n.1717-25350G>A) c.2039G>A (p.Arg680Lys) c.1589G>A (p.Arg530Lys) c.797G>A (p.Arg266Lys) | COSMIC |
| 8 | g.60836879G>C | CA371316698 | CHD7 | c.4052G>C (p.Arg1351Thr) c.1717-25350G>C (n.1717-25350G>C) c.2039G>C (p.Arg680Thr) c.1589G>C (p.Arg530Thr) c.797G>C (p.Arg266Thr) | |
| 8 | g.60836879G>T | CA371316699 | CHD7 | c.4052G>T (p.Arg1351Ile) c.1717-25350G>T (n.1717-25350G>T) c.2039G>T (p.Arg680Ile) c.1589G>T (p.Arg530Ile) c.797G>T (p.Arg266Ile) | |
| 8 | g.60836880A>C | CA371316700 | CHD7 | c.4053A>C (p.Arg1351Ser) c.1717-25349A>C (n.1717-25349A>C) c.2040A>C (p.Arg680Ser) c.1590A>C (p.Arg530Ser) c.798A>C (p.Arg266Ser) | |
| 8 | g.60836880A>G | CA460846970 | CHD7 | c.4053A>G (p.Arg1351=) c.1717-25349A>G (n.1717-25349A>G) c.2040A>G (p.Arg680=) c.1590A>G (p.Arg530=) c.798A>G (p.Arg266=) | |
| 8 | g.60836880A>T | CA371316701 | CHD7 | c.4053A>T (p.Arg1351Ser) c.1717-25349A>T (n.1717-25349A>T) c.2040A>T (p.Arg680Ser) c.1590A>T (p.Arg530Ser) c.798A>T (p.Arg266Ser) | |
| 8 | g.60836881T>A | CA371316702 | CHD7 | c.4054T>A (p.Phe1352Ile) c.1717-25348T>A (n.1717-25348T>A) c.2041T>A (p.Phe681Ile) c.1591T>A (p.Phe531Ile) c.799T>A (p.Phe267Ile) | |
| 8 | g.60836881T>C | CA371316703 | CHD7 | c.4054T>C (p.Phe1352Leu) c.1717-25348T>C (n.1717-25348T>C) c.2041T>C (p.Phe681Leu) c.1591T>C (p.Phe531Leu) c.799T>C (p.Phe267Leu) | |
| 8 | g.60836881T>G | CA371316704 | CHD7 | c.4054T>G (p.Phe1352Val) c.1717-25348T>G (n.1717-25348T>G) c.2041T>G (p.Phe681Val) c.1591T>G (p.Phe531Val) c.799T>G (p.Phe267Val) | |
| 8 | g.60836882T>A | CA371316705 | CHD7 | c.4055T>A (p.Phe1352Tyr) c.1717-25347T>A (n.1717-25347T>A) c.2042T>A (p.Phe681Tyr) c.1592T>A (p.Phe531Tyr) c.800T>A (p.Phe267Tyr) | |
| 8 | g.60836882T>C | CA371316706 | CHD7 | c.4055T>C (p.Phe1352Ser) c.1717-25347T>C (n.1717-25347T>C) c.2042T>C (p.Phe681Ser) c.1592T>C (p.Phe531Ser) c.800T>C (p.Phe267Ser) | ClinVar |
| 8 | g.60836882T>G | CA371316707 | CHD7 | c.4055T>G (p.Phe1352Cys) c.1717-25347T>G (n.1717-25347T>G) c.2042T>G (p.Phe681Cys) c.1592T>G (p.Phe531Cys) c.800T>G (p.Phe267Cys) | |
| 8 | g.60836883C>A | CA371316708 | CHD7 | c.4056C>A (p.Phe1352Leu) c.1717-25346C>A (n.1717-25346C>A) c.2043C>A (p.Phe681Leu) c.1593C>A (p.Phe531Leu) c.801C>A (p.Phe267Leu) | ClinVar dbSNP |
| 8 | g.60836883C>G | CA371316709 | CHD7 | c.4056C>G (p.Phe1352Leu) c.1717-25346C>G (n.1717-25346C>G) c.2043C>G (p.Phe681Leu) c.1593C>G (p.Phe531Leu) c.801C>G (p.Phe267Leu) | |
| 8 | g.60836883C>T | CA460846971 | CHD7 | c.4056C>T (p.Phe1352=) c.1717-25346C>T (n.1717-25346C>T) c.2043C>T (p.Phe681=) c.1593C>T (p.Phe531=) c.801C>T (p.Phe267=) | ClinVar dbSNP |
| 8 | g.60836884T>A | CA371316712 | CHD7 | c.4057T>A (p.Ser1353Thr) c.1717-25345T>A (n.1717-25345T>A) c.2044T>A (p.Ser682Thr) c.1594T>A (p.Ser532Thr) c.802T>A (p.Ser268Thr) | |
| 8 | g.60836884T>C | CA371316711 | CHD7 | c.4057T>C (p.Ser1353Pro) c.1717-25345T>C (n.1717-25345T>C) c.2044T>C (p.Ser682Pro) c.1594T>C (p.Ser532Pro) c.802T>C (p.Ser268Pro) | |
| 8 | g.60836884T>G | CA371316710 | CHD7 | c.4057T>G (p.Ser1353Ala) c.1717-25345T>G (n.1717-25345T>G) c.2044T>G (p.Ser682Ala) c.1594T>G (p.Ser532Ala) c.802T>G (p.Ser268Ala) | |
| 8 | g.60836885C>A | CA371316713 | CHD7 | c.4058C>A (p.Ser1353Tyr) c.1717-25344C>A (n.1717-25344C>A) c.2045C>A (p.Ser682Tyr) c.1595C>A (p.Ser532Tyr) c.803C>A (p.Ser268Tyr) | |
| 8 | g.60836885C>G | CA371316714 | CHD7 | c.4058C>G (p.Ser1353Cys) c.1717-25344C>G (n.1717-25344C>G) c.2045C>G (p.Ser682Cys) c.1595C>G (p.Ser532Cys) c.803C>G (p.Ser268Cys) | gnomAD v4 |
| 8 | g.60836885C>T | CA371316715 | CHD7 | c.4058C>T (p.Ser1353Phe) c.1717-25344C>T (n.1717-25344C>T) c.2045C>T (p.Ser682Phe) c.1595C>T (p.Ser532Phe) c.803C>T (p.Ser268Phe) | COSMIC |
| 8 | g.60836886C>A | CA460846972 | CHD7 | c.4059C>A (p.Ser1353=) c.1717-25343C>A (n.1717-25343C>A) c.2046C>A (p.Ser682=) c.1596C>A (p.Ser532=) c.804C>A (p.Ser268=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60836886C= | CA1788113918 | CHD7 | c.4059C= (p.Ser1353=) c.1717-25343C= (n.1717-25343C=) c.2046C= (p.Ser682=) c.1596C= (p.Ser532=) c.804C= (p.Ser268=) | |
| 8 | g.60836886C>G | CA460846973 | CHD7 | c.4059C>G (p.Ser1353=) c.1717-25343C>G (n.1717-25343C>G) c.2046C>G (p.Ser682=) c.1596C>G (p.Ser532=) c.804C>G (p.Ser268=) | |
| 8 | g.60836886C>T | CA460846974 | CHD7 | c.4059C>T (p.Ser1353=) c.1717-25343C>T (n.1717-25343C>T) c.2046C>T (p.Ser682=) c.1596C>T (p.Ser532=) c.804C>T (p.Ser268=) | |
| 8 | g.60836887A>C | CA371316716 | CHD7 | c.4060A>C (p.Lys1354Gln) c.1717-25342A>C (n.1717-25342A>C) c.2047A>C (p.Lys683Gln) c.1597A>C (p.Lys533Gln) c.805A>C (p.Lys269Gln) | |
| 8 | g.60836887A>G | CA371316717 | CHD7 | c.4060A>G (p.Lys1354Glu) c.1717-25342A>G (n.1717-25342A>G) c.2047A>G (p.Lys683Glu) c.1597A>G (p.Lys533Glu) c.805A>G (p.Lys269Glu) | |
| 8 | g.60836887A>T | CA371316718 | CHD7 | c.4060A>T (p.Lys1354Ter) c.1717-25342A>T (n.1717-25342A>T) c.2047A>T (p.Lys683Ter) c.1597A>T (p.Lys533Ter) c.805A>T (p.Lys269Ter) | |
| 8 | g.60836888A>C | CA371316719 | CHD7 | c.4061A>C (p.Lys1354Thr) c.1717-25341A>C (n.1717-25341A>C) c.2048A>C (p.Lys683Thr) c.1598A>C (p.Lys533Thr) c.806A>C (p.Lys269Thr) | gnomAD v4 |
| 8 | g.60836888A>G | CA371316720 | CHD7 | c.4061A>G (p.Lys1354Arg) c.1717-25341A>G (n.1717-25341A>G) c.2048A>G (p.Lys683Arg) c.1598A>G (p.Lys533Arg) c.806A>G (p.Lys269Arg) | |
| 8 | g.60836888A>T | CA371316721 | CHD7 | c.4061A>T (p.Lys1354Ile) c.1717-25341A>T (n.1717-25341A>T) c.2048A>T (p.Lys683Ile) c.1598A>T (p.Lys533Ile) c.806A>T (p.Lys269Ile) | |
| 8 | g.60836889A>C | CA371316722 | CHD7 | c.4062A>C (p.Lys1354Asn) c.1717-25340A>C (n.1717-25340A>C) c.2049A>C (p.Lys683Asn) c.1599A>C (p.Lys533Asn) c.807A>C (p.Lys269Asn) | |
| 8 | g.60836889A>G | CA460846975 | CHD7 | c.4062A>G (p.Lys1354=) c.1717-25340A>G (n.1717-25340A>G) c.2049A>G (p.Lys683=) c.1599A>G (p.Lys533=) c.807A>G (p.Lys269=) | |
| 8 | g.60836889A>T | CA371316723 | CHD7 | c.4062A>T (p.Lys1354Asn) c.1717-25340A>T (n.1717-25340A>T) c.2049A>T (p.Lys683Asn) c.1599A>T (p.Lys533Asn) c.807A>T (p.Lys269Asn) | |
| 8 | g.60836890C>A | CA371316724 | CHD7 | c.4063C>A (p.Pro1355Thr) c.1717-25339C>A (n.1717-25339C>A) c.2050C>A (p.Pro684Thr) c.1600C>A (p.Pro534Thr) c.808C>A (p.Pro270Thr) | |
| 8 | g.60836890C>G | CA371316725 | CHD7 | c.4063C>G (p.Pro1355Ala) c.1717-25339C>G (n.1717-25339C>G) c.2050C>G (p.Pro684Ala) c.1600C>G (p.Pro534Ala) c.808C>G (p.Pro270Ala) | |
| 8 | g.60836890C>T | CA371316726 | CHD7 | c.4063C>T (p.Pro1355Ser) c.1717-25339C>T (n.1717-25339C>T) c.2050C>T (p.Pro684Ser) c.1600C>T (p.Pro534Ser) c.808C>T (p.Pro270Ser) | |
| 8 | g.60836891C>A | CA371316729 | CHD7 | c.4064C>A (p.Pro1355His) c.1717-25338C>A (n.1717-25338C>A) c.2051C>A (p.Pro684His) c.1601C>A (p.Pro534His) c.809C>A (p.Pro270His) | |
| 8 | g.60836891C>G | CA371316728 | CHD7 | c.4064C>G (p.Pro1355Arg) c.1717-25338C>G (n.1717-25338C>G) c.2051C>G (p.Pro684Arg) c.1601C>G (p.Pro534Arg) c.809C>G (p.Pro270Arg) | |
| 8 | g.60836891C>T | CA371316727 | CHD7 | c.4064C>T (p.Pro1355Leu) c.1717-25338C>T (n.1717-25338C>T) c.2051C>T (p.Pro684Leu) c.1601C>T (p.Pro534Leu) c.809C>T (p.Pro270Leu) | gnomAD v4 |
| 8 | g.60836892T>A | CA460846976 | CHD7 | c.4065T>A (p.Pro1355=) c.1717-25337T>A (n.1717-25337T>A) c.2052T>A (p.Pro684=) c.1602T>A (p.Pro534=) c.810T>A (p.Pro270=) | |
| 8 | g.60836892T>C | CA460846977 | CHD7 | c.4065T>C (p.Pro1355=) c.1717-25337T>C (n.1717-25337T>C) c.2052T>C (p.Pro684=) c.1602T>C (p.Pro534=) c.810T>C (p.Pro270=) | COSMIC |
| 8 | g.60836892T>G | CA460846978 | CHD7 | c.4065T>G (p.Pro1355=) c.1717-25337T>G (n.1717-25337T>G) c.2052T>G (p.Pro684=) c.1602T>G (p.Pro534=) c.810T>G (p.Pro270=) | |
| 8 | g.60836893G>A | CA371316730 | CHD7 | c.4066G>A (p.Asp1356Asn) c.1717-25336G>A (n.1717-25336G>A) c.2053G>A (p.Asp685Asn) c.1603G>A (p.Asp535Asn) c.811G>A (p.Asp271Asn) | |
| 8 | g.60836893G>C | CA371316731 | CHD7 | c.4066G>C (p.Asp1356His) c.1717-25336G>C (n.1717-25336G>C) c.2053G>C (p.Asp685His) c.1603G>C (p.Asp535His) c.811G>C (p.Asp271His) | |
| 8 | g.60836893G>T | CA371316732 | CHD7 | c.4066G>T (p.Asp1356Tyr) c.1717-25336G>T (n.1717-25336G>T) c.2053G>T (p.Asp685Tyr) c.1603G>T (p.Asp535Tyr) c.811G>T (p.Asp271Tyr) | COSMIC |
| 8 | g.60836894A>C | CA371316733 | CHD7 | c.4067A>C (p.Asp1356Ala) c.1717-25335A>C (n.1717-25335A>C) c.2054A>C (p.Asp685Ala) c.1604A>C (p.Asp535Ala) c.812A>C (p.Asp271Ala) | |
| 8 | g.60836894A>G | CA371316734 | CHD7 | c.4067A>G (p.Asp1356Gly) c.1717-25335A>G (n.1717-25335A>G) c.2054A>G (p.Asp685Gly) c.1604A>G (p.Asp535Gly) c.812A>G (p.Asp271Gly) | COSMIC |
| 8 | g.60836894A>T | CA371316735 | CHD7 | c.4067A>T (p.Asp1356Val) c.1717-25335A>T (n.1717-25335A>T) c.2054A>T (p.Asp685Val) c.1604A>T (p.Asp535Val) c.812A>T (p.Asp271Val) | |
| 8 | g.60836895T>A | CA371316737 | CHD7 | c.4068T>A (p.Asp1356Glu) c.1717-25334T>A (n.1717-25334T>A) c.2055T>A (p.Asp685Glu) c.1605T>A (p.Asp535Glu) c.813T>A (p.Asp271Glu) | |
| 8 | g.60836895T>C | CA460846979 | CHD7 | c.4068T>C (p.Asp1356=) c.1717-25334T>C (n.1717-25334T>C) c.2055T>C (p.Asp685=) c.1605T>C (p.Asp535=) c.813T>C (p.Asp271=) | |
| 8 | g.60836895T>G | CA371316736 | CHD7 | c.4068T>G (p.Asp1356Glu) c.1717-25334T>G (n.1717-25334T>G) c.2055T>G (p.Asp685Glu) c.1605T>G (p.Asp535Glu) c.813T>G (p.Asp271Glu) | gnomAD v4 |
| 8 | g.60836896T>A | CA371316738 | CHD7 | c.4069T>A (p.Ser1357Thr) c.1717-25333T>A (n.1717-25333T>A) c.2056T>A (p.Ser686Thr) c.1606T>A (p.Ser536Thr) c.814T>A (p.Ser272Thr) | |
| 8 | g.60836896T>C | CA371316739 | CHD7 | c.4069T>C (p.Ser1357Pro) c.1717-25333T>C (n.1717-25333T>C) c.2056T>C (p.Ser686Pro) c.1606T>C (p.Ser536Pro) c.814T>C (p.Ser272Pro) | |
| 8 | g.60836896T>G | CA371316740 | CHD7 | c.4069T>G (p.Ser1357Ala) c.1717-25333T>G (n.1717-25333T>G) c.2056T>G (p.Ser686Ala) c.1606T>G (p.Ser536Ala) c.814T>G (p.Ser272Ala) | |
| 8 | g.60836897C>A | CA371316741 | CHD7 | c.4070C>A (p.Ser1357Tyr) c.1717-25332C>A (n.1717-25332C>A) c.2057C>A (p.Ser686Tyr) c.1607C>A (p.Ser536Tyr) c.815C>A (p.Ser272Tyr) | |
| 8 | g.60836897C>G | CA371316742 | CHD7 | c.4070C>G (p.Ser1357Cys) c.1717-25332C>G (n.1717-25332C>G) c.2057C>G (p.Ser686Cys) c.1607C>G (p.Ser536Cys) c.815C>G (p.Ser272Cys) | |
| 8 | g.60836897C>T | CA371316743 | CHD7 | c.4070C>T (p.Ser1357Phe) c.1717-25332C>T (n.1717-25332C>T) c.2057C>T (p.Ser686Phe) c.1607C>T (p.Ser536Phe) c.815C>T (p.Ser272Phe) | COSMIC |
| 8 | g.60836898T>A | CA460846982 | CHD7 | c.4071T>A (p.Ser1357=) c.1717-25331T>A (n.1717-25331T>A) c.2058T>A (p.Ser686=) c.1608T>A (p.Ser536=) c.816T>A (p.Ser272=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60836898T>C | CA460846981 | CHD7 | c.4071T>C (p.Ser1357=) c.1717-25331T>C (n.1717-25331T>C) c.2058T>C (p.Ser686=) c.1608T>C (p.Ser536=) c.816T>C (p.Ser272=) | |
| 8 | g.60836898T>G | CA460846980 | CHD7 | c.4071T>G (p.Ser1357=) c.1717-25331T>G (n.1717-25331T>G) c.2058T>G (p.Ser686=) c.1608T>G (p.Ser536=) c.816T>G (p.Ser272=) | |
| 8 | g.60836898T= | CA1788113928 | CHD7 | c.4071T= (p.Ser1357=) c.1717-25331T= (n.1717-25331T=) c.2058T= (p.Ser686=) c.1608T= (p.Ser536=) c.816T= (p.Ser272=) | |
| 8 | g.60836899G>A | CA371316746 | CHD7 | c.4072G>A (p.Asp1358Asn) c.1717-25330G>A (n.1717-25330G>A) c.2059G>A (p.Asp687Asn) c.1609G>A (p.Asp537Asn) c.817G>A (p.Asp273Asn) | ClinVar COSMIC |
| 8 | g.60836899G>C | CA371316744 | CHD7 | c.4072G>C (p.Asp1358His) c.1717-25330G>C (n.1717-25330G>C) c.2059G>C (p.Asp687His) c.1609G>C (p.Asp537His) c.817G>C (p.Asp273His) | |
| 8 | g.60836899G>T | CA371316745 | CHD7 | c.4072G>T (p.Asp1358Tyr) c.1717-25330G>T (n.1717-25330G>T) c.2059G>T (p.Asp687Tyr) c.1609G>T (p.Asp537Tyr) c.817G>T (p.Asp273Tyr) | |
| 8 | g.60836900A>C | CA371316747 | CHD7 | c.4073A>C (p.Asp1358Ala) c.1717-25329A>C (n.1717-25329A>C) c.2060A>C (p.Asp687Ala) c.1610A>C (p.Asp537Ala) c.818A>C (p.Asp273Ala) | |
| 8 | g.60836900A>G | CA371316748 | CHD7 | c.4073A>G (p.Asp1358Gly) c.1717-25329A>G (n.1717-25329A>G) c.2060A>G (p.Asp687Gly) c.1610A>G (p.Asp537Gly) c.818A>G (p.Asp273Gly) | ClinVar dbSNP |
| 8 | g.60836900A>T | CA371316749 | CHD7 | c.4073A>T (p.Asp1358Val) c.1717-25329A>T (n.1717-25329A>T) c.2060A>T (p.Asp687Val) c.1610A>T (p.Asp537Val) c.818A>T (p.Asp273Val) | |
| 8 | g.60836901T>A | CA371316750 | CHD7 | c.4074T>A (p.Asp1358Glu) c.1717-25328T>A (n.1717-25328T>A) c.2061T>A (p.Asp687Glu) c.1611T>A (p.Asp537Glu) c.819T>A (p.Asp273Glu) | |
| 8 | g.60836901T>C | CA460846983 | CHD7 | c.4074T>C (p.Asp1358=) c.1717-25328T>C (n.1717-25328T>C) c.2061T>C (p.Asp687=) c.1611T>C (p.Asp537=) c.819T>C (p.Asp273=) | |
| 8 | g.60836901T>G | CA371316751 | CHD7 | c.4074T>G (p.Asp1358Glu) c.1717-25328T>G (n.1717-25328T>G) c.2061T>G (p.Asp687Glu) c.1611T>G (p.Asp537Glu) c.819T>G (p.Asp273Glu) | |
| 8 | g.60836902A= | CA1788113939 | CHD7 | c.4075A= (p.Arg1359=) c.1717-25327A= (n.1717-25327A=) c.2062A= (p.Arg688=) c.1612A= (p.Arg538=) c.820A= (p.Arg274=) | |
| 8 | g.60836902A>C | CA460846984 | CHD7 | c.4075A>C (p.Arg1359=) c.1717-25327A>C (n.1717-25327A>C) c.2062A>C (p.Arg688=) c.1612A>C (p.Arg538=) c.820A>C (p.Arg274=) | |
| 8 | g.60836902A>G | CA371316752 | CHD7 | c.4075A>G (p.Arg1359Gly) c.1717-25327A>G (n.1717-25327A>G) c.2062A>G (p.Arg688Gly) c.1612A>G (p.Arg538Gly) c.820A>G (p.Arg274Gly) | |
| 8 | g.60836902A>T | CA371316753 | CHD7 | c.4075A>T (p.Arg1359Trp) c.1717-25327A>T (n.1717-25327A>T) c.2062A>T (p.Arg688Trp) c.1612A>T (p.Arg538Trp) c.820A>T (p.Arg274Trp) | ClinVar dbSNP |
| 8 | g.60836902dup | CA2695209685 | CHD7 | c.4075dup (p.Arg1359LysfsTer16) c.1717-25327dup (n.1717-25327dup) c.2062dup (p.Arg688LysfsTer16) c.1612dup (p.Arg538LysfsTer16) c.820dup (p.Arg274LysfsTer16) | |
| 8 | g.60836903G>A | CA177344143 | CHD7 | c.4076G>A (p.Arg1359Lys) c.1717-25326G>A (n.1717-25326G>A) c.2063G>A (p.Arg688Lys) c.1613G>A (p.Arg538Lys) c.821G>A (p.Arg274Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836903G>C | CA371316754 | CHD7 | c.4076G>C (p.Arg1359Thr) c.1717-25326G>C (n.1717-25326G>C) c.2063G>C (p.Arg688Thr) c.1613G>C (p.Arg538Thr) c.821G>C (p.Arg274Thr) | |
| 8 | g.60836903G= | CA1788113953 | CHD7 | c.4076G= (p.Arg1359=) c.1717-25326G= (n.1717-25326G=) c.2063G= (p.Arg688=) c.1613G= (p.Arg538=) c.821G= (p.Arg274=) | |
| 8 | g.60836903G>T | CA371316755 | CHD7 | c.4076G>T (p.Arg1359Met) c.1717-25326G>T (n.1717-25326G>T) c.2063G>T (p.Arg688Met) c.1613G>T (p.Arg538Met) c.821G>T (p.Arg274Met) | |
| 8 | g.60836904G>A | CA460846985 | CHD7 | c.4077G>A (p.Arg1359=) c.1717-25325G>A (n.1717-25325G>A) c.2064G>A (p.Arg688=) c.1614G>A (p.Arg538=) c.822G>A (p.Arg274=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60836904G>C | CA371316756 | CHD7 | c.4077G>C (p.Arg1359Ser) c.1717-25325G>C (n.1717-25325G>C) c.2064G>C (p.Arg688Ser) c.1614G>C (p.Arg538Ser) c.822G>C (p.Arg274Ser) | |
| 8 | g.60836904G= | CA1788113964 | CHD7 | c.4077G= (p.Arg1359=) c.1717-25325G= (n.1717-25325G=) c.2064G= (p.Arg688=) c.1614G= (p.Arg538=) c.822G= (p.Arg274=) | |
| 8 | g.60836904G>T | CA371316757 | CHD7 | c.4077G>T (p.Arg1359Ser) c.1717-25325G>T (n.1717-25325G>T) c.2064G>T (p.Arg688Ser) c.1614G>T (p.Arg538Ser) c.822G>T (p.Arg274Ser) | |
| 8 | g.60836905T>A | CA371316760 | CHD7 | c.4078T>A (p.Phe1360Ile) c.1717-25324T>A (n.1717-25324T>A) c.2065T>A (p.Phe689Ile) c.1615T>A (p.Phe539Ile) c.823T>A (p.Phe275Ile) | |
| 8 | g.60836905T>C | CA371316758 | CHD7 | c.4078T>C (p.Phe1360Leu) c.1717-25324T>C (n.1717-25324T>C) c.2065T>C (p.Phe689Leu) c.1615T>C (p.Phe539Leu) c.823T>C (p.Phe275Leu) | |
| 8 | g.60836905T>G | CA371316759 | CHD7 | c.4078T>G (p.Phe1360Val) c.1717-25324T>G (n.1717-25324T>G) c.2065T>G (p.Phe689Val) c.1615T>G (p.Phe539Val) c.823T>G (p.Phe275Val) | |
| 8 | g.60836906T>A | CA371316761 | CHD7 | c.4079T>A (p.Phe1360Tyr) c.1717-25323T>A (n.1717-25323T>A) c.2066T>A (p.Phe689Tyr) c.1616T>A (p.Phe539Tyr) c.824T>A (p.Phe275Tyr) | |
| 8 | g.60836906T>C | CA371316762 | CHD7 | c.4079T>C (p.Phe1360Ser) c.1717-25323T>C (n.1717-25323T>C) c.2066T>C (p.Phe689Ser) c.1616T>C (p.Phe539Ser) c.824T>C (p.Phe275Ser) | |
| 8 | g.60836906T>G | CA371316763 | CHD7 | c.4079T>G (p.Phe1360Cys) c.1717-25323T>G (n.1717-25323T>G) c.2066T>G (p.Phe689Cys) c.1616T>G (p.Phe539Cys) c.824T>G (p.Phe275Cys) | COSMIC |
| 8 | g.60836907T>A | CA371316764 | CHD7 | c.4080T>A (p.Phe1360Leu) c.1717-25322T>A (n.1717-25322T>A) c.2067T>A (p.Phe689Leu) c.1617T>A (p.Phe539Leu) c.825T>A (p.Phe275Leu) | |
| 8 | g.60836907T>C | CA460846986 | CHD7 | c.4080T>C (p.Phe1360=) c.1717-25322T>C (n.1717-25322T>C) c.2067T>C (p.Phe689=) c.1617T>C (p.Phe539=) c.825T>C (p.Phe275=) | |
| 8 | g.60836907T>G | CA371316765 | CHD7 | c.4080T>G (p.Phe1360Leu) c.1717-25322T>G (n.1717-25322T>G) c.2067T>G (p.Phe689Leu) c.1617T>G (p.Phe539Leu) c.825T>G (p.Phe275Leu) | ClinVar |
| 8 | g.60836908G>A | CA371316766 | CHD7 | c.4081G>A (p.Val1361Ile) c.1717-25321G>A (n.1717-25321G>A) c.2068G>A (p.Val690Ile) c.1618G>A (p.Val540Ile) c.826G>A (p.Val276Ile) | |
| 8 | g.60836908G>C | CA371316767 | CHD7 | c.4081G>C (p.Val1361Leu) c.1717-25321G>C (n.1717-25321G>C) c.2068G>C (p.Val690Leu) c.1618G>C (p.Val540Leu) c.826G>C (p.Val276Leu) | |
| 8 | g.60836908G>T | CA371316768 | CHD7 | c.4081G>T (p.Val1361Phe) c.1717-25321G>T (n.1717-25321G>T) c.2068G>T (p.Val690Phe) c.1618G>T (p.Val540Phe) c.826G>T (p.Val276Phe) | |
| 8 | g.60836909T>A | CA371316769 | CHD7 | c.4082T>A (p.Val1361Asp) c.1717-25320T>A (n.1717-25320T>A) c.2069T>A (p.Val690Asp) c.1619T>A (p.Val540Asp) c.827T>A (p.Val276Asp) | |
| 8 | g.60836909T>C | CA371316770 | CHD7 | c.4082T>C (p.Val1361Ala) c.1717-25320T>C (n.1717-25320T>C) c.2069T>C (p.Val690Ala) c.1619T>C (p.Val540Ala) c.827T>C (p.Val276Ala) | |
| 8 | g.60836909T>G | CA371316771 | CHD7 | c.4082T>G (p.Val1361Gly) c.1717-25320T>G (n.1717-25320T>G) c.2069T>G (p.Val690Gly) c.1619T>G (p.Val540Gly) c.827T>G (p.Val276Gly) | |
| 8 | g.60836910T>A | CA460846987 | CHD7 | c.4083T>A (p.Val1361=) c.1717-25319T>A (n.1717-25319T>A) c.2070T>A (p.Val690=) c.1620T>A (p.Val540=) c.828T>A (p.Val276=) | |
| 8 | g.60836910T>C | CA460846988 | CHD7 | c.4083T>C (p.Val1361=) c.1717-25319T>C (n.1717-25319T>C) c.2070T>C (p.Val690=) c.1620T>C (p.Val540=) c.828T>C (p.Val276=) | |
| 8 | g.60836910T>G | CA460846989 | CHD7 | c.4083T>G (p.Val1361=) c.1717-25319T>G (n.1717-25319T>G) c.2070T>G (p.Val690=) c.1620T>G (p.Val540=) c.828T>G (p.Val276=) | |
| 8 | g.60836911T>A | CA371316772 | CHD7 | c.4084T>A (p.Phe1362Ile) c.1717-25318T>A (n.1717-25318T>A) c.2071T>A (p.Phe691Ile) c.1621T>A (p.Phe541Ile) c.829T>A (p.Phe277Ile) | |
| 8 | g.60836911T>C | CA371316773 | CHD7 | c.4084T>C (p.Phe1362Leu) c.1717-25318T>C (n.1717-25318T>C) c.2071T>C (p.Phe691Leu) c.1621T>C (p.Phe541Leu) c.829T>C (p.Phe277Leu) | |
| 8 | g.60836911T>G | CA371316774 | CHD7 | c.4084T>G (p.Phe1362Val) c.1717-25318T>G (n.1717-25318T>G) c.2071T>G (p.Phe691Val) c.1621T>G (p.Phe541Val) c.829T>G (p.Phe277Val) | |
| 8 | g.60836912T>A | CA371316777 | CHD7 | c.4085T>A (p.Phe1362Tyr) c.1717-25317T>A (n.1717-25317T>A) c.2072T>A (p.Phe691Tyr) c.1622T>A (p.Phe541Tyr) c.830T>A (p.Phe277Tyr) | |
| 8 | g.60836912T>C | CA371316776 | CHD7 | c.4085T>C (p.Phe1362Ser) c.1717-25317T>C (n.1717-25317T>C) c.2072T>C (p.Phe691Ser) c.1622T>C (p.Phe541Ser) c.830T>C (p.Phe277Ser) | |
| 8 | g.60836912T>G | CA371316775 | CHD7 | c.4085T>G (p.Phe1362Cys) c.1717-25317T>G (n.1717-25317T>G) c.2072T>G (p.Phe691Cys) c.1622T>G (p.Phe541Cys) c.830T>G (p.Phe277Cys) | |
| 8 | g.60836913C>A | CA371316778 | CHD7 | c.4086C>A (p.Phe1362Leu) c.1717-25316C>A (n.1717-25316C>A) c.2073C>A (p.Phe691Leu) c.1623C>A (p.Phe541Leu) c.831C>A (p.Phe277Leu) | |
| 8 | g.60836913C>G | CA371316779 | CHD7 | c.4086C>G (p.Phe1362Leu) c.1717-25316C>G (n.1717-25316C>G) c.2073C>G (p.Phe691Leu) c.1623C>G (p.Phe541Leu) c.831C>G (p.Phe277Leu) | |
| 8 | g.60836913C>T | CA460846990 | CHD7 | c.4086C>T (p.Phe1362=) c.1717-25316C>T (n.1717-25316C>T) c.2073C>T (p.Phe691=) c.1623C>T (p.Phe541=) c.831C>T (p.Phe277=) | gnomAD v4 |
| 8 | g.60836914del | CA2695209686 | CHD7 | c.4087del (p.Leu1363SerfsTer9) c.1717-25315del (n.1717-25315del) c.2074del (p.Leu692SerfsTer9) c.1624del (p.Leu542SerfsTer9) c.832del (p.Leu278SerfsTer9) | |
| 8 | g.60836914C>A | CA371316780 | CHD7 | c.4087C>A (p.Leu1363Ile) c.1717-25315C>A (n.1717-25315C>A) c.2074C>A (p.Leu692Ile) c.1624C>A (p.Leu542Ile) c.832C>A (p.Leu278Ile) | |
| 8 | g.60836914C>G | CA371316781 | CHD7 | c.4087C>G (p.Leu1363Val) c.1717-25315C>G (n.1717-25315C>G) c.2074C>G (p.Leu692Val) c.1624C>G (p.Leu542Val) c.832C>G (p.Leu278Val) | |
| 8 | g.60836914C>T | CA371316782 | CHD7 | c.4087C>T (p.Leu1363Phe) c.1717-25315C>T (n.1717-25315C>T) c.2074C>T (p.Leu692Phe) c.1624C>T (p.Leu542Phe) c.832C>T (p.Leu278Phe) | gnomAD v4 |
| 8 | g.60836915T>A | CA16618668 | CHD7 | c.4088T>A (p.Leu1363His) c.1717-25314T>A (n.1717-25314T>A) c.2075T>A (p.Leu692His) c.1625T>A (p.Leu542His) c.833T>A (p.Leu278His) | ClinVar dbSNP |
| 8 | g.60836915T>C | CA371316783 | CHD7 | c.4088T>C (p.Leu1363Pro) c.1717-25314T>C (n.1717-25314T>C) c.2075T>C (p.Leu692Pro) c.1625T>C (p.Leu542Pro) c.833T>C (p.Leu278Pro) | |
| 8 | g.60836915T>G | CA371316784 | CHD7 | c.4088T>G (p.Leu1363Arg) c.1717-25314T>G (n.1717-25314T>G) c.2075T>G (p.Leu692Arg) c.1625T>G (p.Leu542Arg) c.833T>G (p.Leu278Arg) | |
| 8 | g.60836915T= | CA1788113966 | CHD7 | c.4088T= (p.Leu1363=) c.1717-25314T= (n.1717-25314T=) c.2075T= (p.Leu692=) c.1625T= (p.Leu542=) c.833T= (p.Leu278=) | |
| 8 | g.60836916C>A | CA460846991 | CHD7 | c.4089C>A (p.Leu1363=) c.1717-25313C>A (n.1717-25313C>A) c.2076C>A (p.Leu692=) c.1626C>A (p.Leu542=) c.834C>A (p.Leu278=) | |
| 8 | g.60836916C= | CA1788113974 | CHD7 | c.4089C= (p.Leu1363=) c.1717-25313C= (n.1717-25313C=) c.2076C= (p.Leu692=) c.1626C= (p.Leu542=) c.834C= (p.Leu278=) | |
| 8 | g.60836916C>G | CA177344144 | CHD7 | c.4089C>G (p.Leu1363=) c.1717-25313C>G (n.1717-25313C>G) c.2076C>G (p.Leu692=) c.1626C>G (p.Leu542=) c.834C>G (p.Leu278=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836916C>T | CA460846992 | CHD7 | c.4089C>T (p.Leu1363=) c.1717-25313C>T (n.1717-25313C>T) c.2076C>T (p.Leu692=) c.1626C>T (p.Leu542=) c.834C>T (p.Leu278=) | dbSNP gnomAD v2 |
| 8 | g.60836917C>A | CA371316785 | CHD7 | c.4090C>A (p.Leu1364Met) c.1717-25312C>A (n.1717-25312C>A) c.2077C>A (p.Leu693Met) c.1627C>A (p.Leu543Met) c.835C>A (p.Leu279Met) | |
| 8 | g.60836917C= | CA1788113982 | CHD7 | c.4090C= (p.Leu1364=) c.1717-25312C= (n.1717-25312C=) c.2077C= (p.Leu693=) c.1627C= (p.Leu543=) c.835C= (p.Leu279=) | |
| 8 | g.60836917C>G | CA371316786 | CHD7 | c.4090C>G (p.Leu1364Val) c.1717-25312C>G (n.1717-25312C>G) c.2077C>G (p.Leu693Val) c.1627C>G (p.Leu543Val) c.835C>G (p.Leu279Val) | |
| 8 | g.60836917C>T | CA4760082 | CHD7 | c.4090C>T (p.Leu1364=) c.1717-25312C>T (n.1717-25312C>T) c.2077C>T (p.Leu693=) c.1627C>T (p.Leu543=) c.835C>T (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836918T>A | CA371316787 | CHD7 | c.4091T>A (p.Leu1364Gln) c.1717-25311T>A (n.1717-25311T>A) c.2078T>A (p.Leu693Gln) c.1628T>A (p.Leu543Gln) c.836T>A (p.Leu279Gln) | |
| 8 | g.60836918T>C | CA371316788 | CHD7 | c.4091T>C (p.Leu1364Pro) c.1717-25311T>C (n.1717-25311T>C) c.2078T>C (p.Leu693Pro) c.1628T>C (p.Leu543Pro) c.836T>C (p.Leu279Pro) | |
| 8 | g.60836918T>G | CA371316789 | CHD7 | c.4091T>G (p.Leu1364Arg) c.1717-25311T>G (n.1717-25311T>G) c.2078T>G (p.Leu693Arg) c.1628T>G (p.Leu543Arg) c.836T>G (p.Leu279Arg) | |
| 8 | g.60836919G>A | CA460846993 | CHD7 | c.4092G>A (p.Leu1364=) c.1717-25310G>A (n.1717-25310G>A) c.2079G>A (p.Leu693=) c.1629G>A (p.Leu543=) c.837G>A (p.Leu279=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836919G>C | CA460846994 | CHD7 | c.4092G>C (p.Leu1364=) c.1717-25310G>C (n.1717-25310G>C) c.2079G>C (p.Leu693=) c.1629G>C (p.Leu543=) c.837G>C (p.Leu279=) | gnomAD v4 |
| 8 | g.60836919G= | CA1788113986 | CHD7 | c.4092G= (p.Leu1364=) c.1717-25310G= (n.1717-25310G=) c.2079G= (p.Leu693=) c.1629G= (p.Leu543=) c.837G= (p.Leu279=) | |
| 8 | g.60836919G>T | CA460846995 | CHD7 | c.4092G>T (p.Leu1364=) c.1717-25310G>T (n.1717-25310G>T) c.2079G>T (p.Leu693=) c.1629G>T (p.Leu543=) c.837G>T (p.Leu279=) | |
| 8 | g.60836920T>A | CA371316791 | CHD7 | c.4093T>A (p.Cys1365Ser) c.1717-25309T>A (n.1717-25309T>A) c.2080T>A (p.Cys694Ser) c.1630T>A (p.Cys544Ser) c.838T>A (p.Cys280Ser) | |
| 8 | g.60836920T>C | CA371316792 | CHD7 | c.4093T>C (p.Cys1365Arg) c.1717-25309T>C (n.1717-25309T>C) c.2080T>C (p.Cys694Arg) c.1630T>C (p.Cys544Arg) c.838T>C (p.Cys280Arg) | |
| 8 | g.60836920T>G | CA371316790 | CHD7 | c.4093T>G (p.Cys1365Gly) c.1717-25309T>G (n.1717-25309T>G) c.2080T>G (p.Cys694Gly) c.1630T>G (p.Cys544Gly) c.838T>G (p.Cys280Gly) | |
| 8 | g.60836921G>A | CA371316793 | CHD7 | c.4094G>A (p.Cys1365Tyr) c.1717-25308G>A (n.1717-25308G>A) c.2081G>A (p.Cys694Tyr) c.1631G>A (p.Cys544Tyr) c.839G>A (p.Cys280Tyr) | |
| 8 | g.60836921G>C | CA371316794 | CHD7 | c.4094G>C (p.Cys1365Ser) c.1717-25308G>C (n.1717-25308G>C) c.2081G>C (p.Cys694Ser) c.1631G>C (p.Cys544Ser) c.839G>C (p.Cys280Ser) | |
| 8 | g.60836921G>T | CA371316795 | CHD7 | c.4094G>T (p.Cys1365Phe) c.1717-25308G>T (n.1717-25308G>T) c.2081G>T (p.Cys694Phe) c.1631G>T (p.Cys544Phe) c.839G>T (p.Cys280Phe) | |
| 8 | g.60836922T>A | CA371316796 | CHD7 | c.4095T>A (p.Cys1365Ter) c.1717-25307T>A (n.1717-25307T>A) c.2082T>A (p.Cys694Ter) c.1632T>A (p.Cys544Ter) c.840T>A (p.Cys280Ter) | |
| 8 | g.60836922T>C | CA460846996 | CHD7 | c.4095T>C (p.Cys1365=) c.1717-25307T>C (n.1717-25307T>C) c.2082T>C (p.Cys694=) c.1632T>C (p.Cys544=) c.840T>C (p.Cys280=) | |
| 8 | g.60836922T>G | CA371316797 | CHD7 | c.4095T>G (p.Cys1365Trp) c.1717-25307T>G (n.1717-25307T>G) c.2082T>G (p.Cys694Trp) c.1632T>G (p.Cys544Trp) c.840T>G (p.Cys280Trp) | |
| 8 | g.60836923A>C | CA371316800 | CHD7 | c.4096A>C (p.Thr1366Pro) c.1717-25306A>C (n.1717-25306A>C) c.2083A>C (p.Thr695Pro) c.1633A>C (p.Thr545Pro) c.841A>C (p.Thr281Pro) | |
| 8 | g.60836923A>G | CA371316799 | CHD7 | c.4096A>G (p.Thr1366Ala) c.1717-25306A>G (n.1717-25306A>G) c.2083A>G (p.Thr695Ala) c.1633A>G (p.Thr545Ala) c.841A>G (p.Thr281Ala) | |
| 8 | g.60836923A>T | CA371316798 | CHD7 | c.4096A>T (p.Thr1366Ser) c.1717-25306A>T (n.1717-25306A>T) c.2083A>T (p.Thr695Ser) c.1633A>T (p.Thr545Ser) c.841A>T (p.Thr281Ser) | |
| 8 | g.60836924C>A | CA371316801 | CHD7 | c.4097C>A (p.Thr1366Lys) c.1717-25305C>A (n.1717-25305C>A) c.2084C>A (p.Thr695Lys) c.1634C>A (p.Thr545Lys) c.842C>A (p.Thr281Lys) | |
| 8 | g.60836924C>G | CA371316802 | CHD7 | c.4097C>G (p.Thr1366Arg) c.1717-25305C>G (n.1717-25305C>G) c.2084C>G (p.Thr695Arg) c.1634C>G (p.Thr545Arg) c.842C>G (p.Thr281Arg) | |
| 8 | g.60836924C>T | CA371316803 | CHD7 | c.4097C>T (p.Thr1366Ile) c.1717-25305C>T (n.1717-25305C>T) c.2084C>T (p.Thr695Ile) c.1634C>T (p.Thr545Ile) c.842C>T (p.Thr281Ile) |