| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60781031del | CA2580617728 | CHD7 | n.2210del c.1697del (p.Pro566GlnfsTer5) c.341del c.98del (p.Pro33GlnfsTer5) | ClinVar |
| 8 | g.60781031C>A | CA4759557 | CHD7 | n.2210C>A c.1697C>A (p.Pro566Gln) c.341C>A c.98C>A (p.Pro33Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60781031C= | CA1788144781 | CHD7 | n.2210C= c.1697C= (p.Pro566=) c.341C= c.98C= (p.Pro33=) | |
| 8 | g.60781031C>G | CA371311374 | CHD7 | n.2210C>G c.1697C>G (p.Pro566Arg) c.341C>G c.98C>G (p.Pro33Arg) | ClinVar gnomAD v4 |
| 8 | g.60781031C>T | CA371311377 | CHD7 | n.2210C>T c.1697C>T (p.Pro566Leu) c.341C>T c.98C>T (p.Pro33Leu) | |
| 8 | g.60781032A= | CA1788144782 | CHD7 | n.2211A= c.1698A= (p.Pro566=) c.342A= c.99A= (p.Pro33=) | |
| 8 | g.60781032A>C | CA461104147 | CHD7 | n.2211A>C c.1698A>C (p.Pro566=) c.342A>C c.99A>C (p.Pro33=) | |
| 8 | g.60781032A>G | CA233716 | CHD7 | n.2211A>G c.1698A>G (p.Pro566=) c.342A>G c.99A>G (p.Pro33=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60781032A>T | CA461104148 | CHD7 | n.2211A>T c.1698A>T (p.Pro566=) c.342A>T c.99A>T (p.Pro33=) | |
| 8 | g.60781033G>A | CA371311386 | CHD7 | n.2212G>A c.1699G>A (p.Val567Met) c.343G>A c.100G>A (p.Val34Met) | COSMIC |
| 8 | g.60781033G>C | CA371311392 | CHD7 | n.2212G>C c.1699G>C (p.Val567Leu) c.343G>C c.100G>C (p.Val34Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60781033G= | CA1788144783 | CHD7 | n.2212G= c.1699G= (p.Val567=) c.343G= c.100G= (p.Val34=) | |
| 8 | g.60781033G>T | CA371311394 | CHD7 | n.2212G>T c.1699G>T (p.Val567Leu) c.343G>T c.100G>T (p.Val34Leu) | |
| 8 | g.60781033_60781034insC | CA2695209573 | CHD7 | n.2212_2213insC c.1699_1700insC (p.Val567AlafsTer8) c.1699_1700insC (p.Val567AlafsTer14) c.343_344insC c.100_101insC (p.Val34AlafsTer18) | |
| 8 | g.60781034T>A | CA371311399 | CHD7 | n.2213T>A c.1700T>A (p.Val567Glu) c.344T>A c.101T>A (p.Val34Glu) | |
| 8 | g.60781034T>C | CA371311402 | CHD7 | n.2213T>C c.1700T>C (p.Val567Ala) c.344T>C c.101T>C (p.Val34Ala) | gnomAD v4 |
| 8 | g.60781034T>G | CA371311404 | CHD7 | n.2213T>G c.1700T>G (p.Val567Gly) c.344T>G c.101T>G (p.Val34Gly) | |
| 8 | g.60781035G>A | CA461104149 | CHD7 | n.2214G>A c.1701G>A (p.Val567=) c.345G>A c.102G>A (p.Val34=) | |
| 8 | g.60781035G>C | CA461104150 | CHD7 | n.2214G>C c.1701G>C (p.Val567=) c.345G>C c.102G>C (p.Val34=) | |
| 8 | g.60781035G>T | CA461104151 | CHD7 | n.2214G>T c.1701G>T (p.Val567=) c.345G>T c.102G>T (p.Val34=) | |
| 8 | g.60781036C>A | CA371311408 | CHD7 | n.2215C>A c.1702C>A (p.Pro568Thr) c.346C>A c.103C>A (p.Pro35Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60781036C= | CA1788144784 | CHD7 | n.2215C= c.1702C= (p.Pro568=) c.346C= c.103C= (p.Pro35=) | |
| 8 | g.60781036C>G | CA371311411 | CHD7 | n.2215C>G c.1702C>G (p.Pro568Ala) c.346C>G c.103C>G (p.Pro35Ala) | |
| 8 | g.60781036C>T | CA371311413 | CHD7 | n.2215C>T c.1702C>T (p.Pro568Ser) c.346C>T c.103C>T (p.Pro35Ser) | |
| 8 | g.60781037C>A | CA371311423 | CHD7 | n.2216C>A c.1703C>A (p.Pro568Gln) c.347C>A c.104C>A (p.Pro35Gln) | gnomAD v4 |
| 8 | g.60781037C= | CA1788144785 | CHD7 | n.2216C= c.1703C= (p.Pro568=) c.347C= c.104C= (p.Pro35=) | |
| 8 | g.60781037C>G | CA371311420 | CHD7 | n.2216C>G c.1703C>G (p.Pro568Arg) c.347C>G c.104C>G (p.Pro35Arg) | |
| 8 | g.60781037C>T | CA4759558 | CHD7 | n.2216C>T c.1703C>T (p.Pro568Leu) c.347C>T c.104C>T (p.Pro35Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60781038G>A | CA4759559 | CHD7 | n.2217G>A c.1704G>A (p.Pro568=) c.348G>A c.105G>A (p.Pro35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60781038G>C | CA4759560 | CHD7 | n.2217G>C c.1704G>C (p.Pro568=) c.348G>C c.105G>C (p.Pro35=) | dbSNP ExAC gnomAD v4 |
| 8 | g.60781038G= | CA1788144786 | CHD7 | n.2217G= c.1704G= (p.Pro568=) c.348G= c.105G= (p.Pro35=) | |
| 8 | g.60781038G>T | CA461104152 | CHD7 | n.2217G>T c.1704G>T (p.Pro568=) c.348G>T c.105G>T (p.Pro35=) | |
| 8 | g.60781039G>A | CA371311432 | CHD7 | n.2218G>A c.1705G>A (p.Asp569Asn) c.349G>A c.106G>A (p.Asp36Asn) | |
| 8 | g.60781039G>C | CA371311438 | CHD7 | n.2218G>C c.1705G>C (p.Asp569His) c.349G>C c.106G>C (p.Asp36His) | |
| 8 | g.60781039G= | CA1788144787 | CHD7 | n.2218G= c.1705G= (p.Asp569=) c.349G= c.106G= (p.Asp36=) | |
| 8 | g.60781039G>T | CA371311435 | CHD7 | n.2218G>T c.1705G>T (p.Asp569Tyr) c.349G>T c.106G>T (p.Asp36Tyr) | dbSNP |
| 8 | g.60781040A>C | CA371311439 | CHD7 | n.2219A>C c.1706A>C (p.Asp569Ala) c.350A>C c.107A>C (p.Asp36Ala) | gnomAD v4 |
| 8 | g.60781040A>G | CA371311445 | CHD7 | n.2219A>G c.1706A>G (p.Asp569Gly) c.350A>G c.107A>G (p.Asp36Gly) | |
| 8 | g.60781040A>T | CA371311441 | CHD7 | n.2219A>T c.1706A>T (p.Asp569Val) c.350A>T c.107A>T (p.Asp36Val) | |
| 8 | g.60781041T>A | CA371311448 | CHD7 | n.2220T>A c.1707T>A (p.Asp569Glu) c.351T>A c.108T>A (p.Asp36Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60781041T>C | CA461104153 | CHD7 | n.2220T>C c.1707T>C (p.Asp569=) c.351T>C c.108T>C (p.Asp36=) | |
| 8 | g.60781041T>G | CA371311450 | CHD7 | n.2220T>G c.1707T>G (p.Asp569Glu) c.351T>G c.108T>G (p.Asp36Glu) | |
| 8 | g.60781041T= | CA1788144788 | CHD7 | n.2220T= c.1707T= (p.Asp569=) c.351T= c.108T= (p.Asp36=) | |
| 8 | g.60781042A= | CA1788144789 | CHD7 | n.2221A= c.1708A= (p.Met570=) c.352A= c.109A= (p.Met37=) | |
| 8 | g.60781042A>C | CA371311454 | CHD7 | n.2221A>C c.1708A>C (p.Met570Leu) c.352A>C c.109A>C (p.Met37Leu) | |
| 8 | g.60781042A>G | CA4759561 | CHD7 | n.2221A>G c.1708A>G (p.Met570Val) c.352A>G c.109A>G (p.Met37Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60781042A>T | CA371311457 | CHD7 | n.2221A>T c.1708A>T (p.Met570Leu) c.352A>T c.109A>T (p.Met37Leu) | |
| 8 | g.60781043T>A | CA371311463 | CHD7 | n.2222T>A c.1709T>A (p.Met570Lys) c.353T>A c.110T>A (p.Met37Lys) | |
| 8 | g.60781043T>C | CA371311469 | CHD7 | n.2222T>C c.1709T>C (p.Met570Thr) c.353T>C c.110T>C (p.Met37Thr) | gnomAD v4 |
| 8 | g.60781043T>G | CA371311467 | CHD7 | n.2222T>G c.1709T>G (p.Met570Arg) c.353T>G c.110T>G (p.Met37Arg) |