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.22123718_22123768del | CA2686436807 | HR | c.1805_1855del (p.Arg602_Ser618del) c.1808_1858del (p.Arg603_Ser619del) | gnomAD v4 |
| 8 | g.22123748C>A | CA370492623 | HR | c.1816G>T (p.Gly606Ter) c.1819G>T (p.Gly607Ter) | |
| 8 | g.22123748C= | CA1770268072 | HR | c.1816G= (p.Gly606=) c.1819G= (p.Gly607=) | |
| 8 | g.22123748C>G | CA370492626 | HR | c.1816G>C (p.Gly606Arg) c.1819G>C (p.Gly607Arg) | |
| 8 | g.22123748C>T | CA370492629 | HR | c.1816G>A (p.Gly606Arg) c.1819G>A (p.Gly607Arg) | dbSNP gnomAD v4 |
| 8 | g.22123749A= | CA1770268082 | HR | c.1815T= (p.His605=) c.1818T= (p.His606=) | |
| 8 | g.22123749A>C | CA370492632 | HR | c.1815T>G (p.His605Gln) c.1818T>G (p.His606Gln) | |
| 8 | g.22123749A>G | CA173458179 | HR | c.1815T>C (p.His605=) c.1818T>C (p.His606=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123749A>T | CA370492635 | HR | c.1815T>A (p.His605Gln) c.1818T>A (p.His606Gln) | dbSNP gnomAD v2 |
| 8 | g.22123750T>A | CA370492638 | HR | c.1814A>T (p.His605Leu) c.1817A>T (p.His606Leu) | |
| 8 | g.22123750T>C | CA173458183 | HR | c.1814A>G (p.His605Arg) c.1817A>G (p.His606Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123750T>G | CA370492641 | HR | c.1814A>C (p.His605Pro) c.1817A>C (p.His606Pro) | |
| 8 | g.22123750T= | CA1770268089 | HR | c.1814A= (p.His605=) c.1817A= (p.His606=) | |
| 8 | g.22123751G>A | CA370492649 | HR | c.1813C>T (p.His605Tyr) c.1816C>T (p.His606Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22123751G>C | CA370492646 | HR | c.1813C>G (p.His605Asp) c.1816C>G (p.His606Asp) | |
| 8 | g.22123751G>T | CA370492644 | HR | c.1813C>A (p.His605Asn) c.1816C>A (p.His606Asn) | gnomAD v4 |
| 8 | g.22123752del | CA2686436809 | HR | c.1813del (p.His605MetfsTer?) c.1816del (p.His606MetfsTer?) | gnomAD v4 |
| 8 | g.22123752G>A | CA459891926 | HR | c.1812C>T (p.His604=) c.1815C>T (p.His605=) | |
| 8 | g.22123752G>C | CA370492653 | HR | c.1812C>G (p.His604Gln) c.1815C>G (p.His605Gln) | |
| 8 | g.22123752G= | CA1770268094 | HR | c.1812C= (p.His604=) c.1815C= (p.His605=) | |
| 8 | g.22123752G>T | CA4662341 | HR | c.1812C>A (p.His604Gln) c.1815C>A (p.His605Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123753T>A | CA370492659 | HR | c.1811A>T (p.His604Leu) c.1814A>T (p.His605Leu) | |
| 8 | g.22123753T>C | CA370492660 | HR | c.1811A>G (p.His604Arg) c.1814A>G (p.His605Arg) | |
| 8 | g.22123753T>G | CA370492662 | HR | c.1811A>C (p.His604Pro) c.1814A>C (p.His605Pro) | dbSNP |
| 8 | g.22123753T= | CA1770268100 | HR | c.1811A= (p.His604=) c.1814A= (p.His605=) | |
| 8 | g.22123754G>A | CA370492666 | HR | c.1810C>T (p.His604Tyr) c.1813C>T (p.His605Tyr) | dbSNP gnomAD v4 |
| 8 | g.22123754G>C | CA370492668 | HR | c.1810C>G (p.His604Asp) c.1813C>G (p.His605Asp) | |
| 8 | g.22123754G= | CA1770268106 | HR | c.1810C= (p.His604=) c.1813C= (p.His605=) | |
| 8 | g.22123754G>T | CA370492670 | HR | c.1810C>A (p.His604Asn) c.1813C>A (p.His605Asn) | gnomAD v4 |
| 8 | g.22123755G>A | CA4662342 | HR | c.1809C>T (p.Cys603=) c.1812C>T (p.Cys604=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.22123755G>C | CA370492675 | HR | c.1809C>G (p.Cys603Trp) c.1812C>G (p.Cys604Trp) | |
| 8 | g.22123755G= | CA1770268112 | HR | c.1809C= (p.Cys603=) c.1812C= (p.Cys604=) | |
| 8 | g.22123755G>T | CA370492677 | HR | c.1809C>A (p.Cys603Ter) c.1812C>A (p.Cys604Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123756C>A | CA370492680 | HR | c.1808G>T (p.Cys603Phe) c.1811G>T (p.Cys604Phe) | gnomAD v4 |
| 8 | g.22123756C>G | CA370492683 | HR | c.1808G>C (p.Cys603Ser) c.1811G>C (p.Cys604Ser) | |
| 8 | g.22123756C>T | CA370492685 | HR | c.1808G>A (p.Cys603Tyr) c.1811G>A (p.Cys604Tyr) | gnomAD v4 COSMIC |
| 8 | g.22123757A= | CA1770268119 | HR | c.1807T= (p.Cys603=) c.1810T= (p.Cys604=) | |
| 8 | g.22123757A>C | CA370492691 | HR | c.1807T>G (p.Cys603Gly) c.1810T>G (p.Cys604Gly) | |
| 8 | g.22123757A>G | CA370492694 | HR | c.1807T>C (p.Cys603Arg) c.1810T>C (p.Cys604Arg) | |
| 8 | g.22123757A>T | CA370492688 | HR | c.1807T>A (p.Cys603Ser) c.1810T>A (p.Cys604Ser) | ClinVar dbSNP |
| 8 | g.22123758A>C | CA459891947 | HR | c.1806T>G (p.Arg602=) c.1809T>G (p.Arg603=) | |
| 8 | g.22123758A>G | CA459891950 | HR | c.1806T>C (p.Arg602=) c.1809T>C (p.Arg603=) | |
| 8 | g.22123758A>T | CA459891948 | HR | c.1806T>A (p.Arg602=) c.1809T>A (p.Arg603=) | |
| 8 | g.22123759C>A | CA370492696 | HR | c.1805G>T (p.Arg602Leu) c.1808G>T (p.Arg603Leu) | gnomAD v4 |
| 8 | g.22123759C= | CA1770268128 | HR | c.1805G= (p.Arg602=) c.1808G= (p.Arg603=) | |
| 8 | g.22123759C>G | CA370492699 | HR | c.1805G>C (p.Arg602Pro) c.1808G>C (p.Arg603Pro) | |
| 8 | g.22123759C>T | CA4662343 | HR | c.1805G>A (p.Arg602His) c.1808G>A (p.Arg603His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.22123760G>A | CA4662344 | HR | c.1804C>T (p.Arg602Cys) c.1807C>T (p.Arg603Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123760G>C | CA370492700 | HR | c.1804C>G (p.Arg602Gly) c.1807C>G (p.Arg603Gly) | gnomAD v4 |
| 8 | g.22123760G= | CA1770268140 | HR | c.1804C= (p.Arg602=) c.1807C= (p.Arg603=) | |
| 8 | g.22123760G>T | CA370492701 | HR | c.1804C>A (p.Arg602Ser) c.1807C>A (p.Arg603Ser) | gnomAD v4 |
| 8 | g.22123761G>A | CA459891958 | HR | c.1803C>T (p.Ser601=) c.1806C>T (p.Ser602=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123761G>C | CA370492703 | HR | c.1803C>G (p.Ser601Arg) c.1806C>G (p.Ser602Arg) | |
| 8 | g.22123761G= | CA1770268141 | HR | c.1803C= (p.Ser601=) c.1806C= (p.Ser602=) | |
| 8 | g.22123761G>T | CA370492705 | HR | c.1803C>A (p.Ser601Arg) c.1806C>A (p.Ser602Arg) | gnomAD v4 |
| 8 | g.22123762C>A | CA370492707 | HR | c.1802G>T (p.Ser601Ile) c.1805G>T (p.Ser602Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123762C= | CA1770268145 | HR | c.1802G= (p.Ser601=) c.1805G= (p.Ser602=) | |
| 8 | g.22123762C>G | CA370492708 | HR | c.1802G>C (p.Ser601Thr) c.1805G>C (p.Ser602Thr) | |
| 8 | g.22123762C>T | CA370492710 | HR | c.1802G>A (p.Ser601Asn) c.1805G>A (p.Ser602Asn) | gnomAD v4 |
| 8 | g.22123763T>A | CA370492711 | HR | c.1801A>T (p.Ser601Cys) c.1804A>T (p.Ser602Cys) | dbSNP gnomAD v4 |
| 8 | g.22123763T>C | CA370492713 | HR | c.1801A>G (p.Ser601Gly) c.1804A>G (p.Ser602Gly) | |
| 8 | g.22123763T>G | CA370492715 | HR | c.1801A>C (p.Ser601Arg) c.1804A>C (p.Ser602Arg) | |
| 8 | g.22123763T= | CA1770268150 | HR | c.1801A= (p.Ser601=) c.1804A= (p.Ser602=) | |
| 8 | g.22123764G>A | CA459891964 | HR | c.1800C>T (p.Cys600=) c.1803C>T (p.Cys601=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123764G>C | CA370492717 | HR | c.1800C>G (p.Cys600Trp) c.1803C>G (p.Cys601Trp) | |
| 8 | g.22123764G= | CA1770268154 | HR | c.1800C= (p.Cys600=) c.1803C= (p.Cys601=) | |
| 8 | g.22123764G>T | CA370492719 | HR | c.1800C>A (p.Cys600Ter) c.1803C>A (p.Cys601Ter) | gnomAD v4 |
| 8 | g.22123765C>A | CA370492721 | HR | c.1799G>T (p.Cys600Phe) c.1802G>T (p.Cys601Phe) | gnomAD v4 |
| 8 | g.22123765C>G | CA370492722 | HR | c.1799G>C (p.Cys600Ser) c.1802G>C (p.Cys601Ser) | gnomAD v4 |
| 8 | g.22123765C>T | CA370492726 | HR | c.1799G>A (p.Cys600Tyr) c.1802G>A (p.Cys601Tyr) | gnomAD v4 |
| 8 | g.22123766A>C | CA370492729 | HR | c.1798T>G (p.Cys600Gly) c.1801T>G (p.Cys601Gly) | |
| 8 | g.22123766A>G | CA370492731 | HR | c.1798T>C (p.Cys600Arg) c.1801T>C (p.Cys601Arg) | gnomAD v4 |
| 8 | g.22123766A>T | CA370492734 | HR | c.1798T>A (p.Cys600Ser) c.1801T>A (p.Cys601Ser) | |
| 8 | g.22123767G>A | CA459891968 | HR | c.1797C>T (p.Cys599=) c.1800C>T (p.Cys600=) | gnomAD v4 |
| 8 | g.22123767G>C | CA370492737 | HR | c.1797C>G (p.Cys599Trp) c.1800C>G (p.Cys600Trp) | |
| 8 | g.22123767G>T | CA370492740 | HR | c.1797C>A (p.Cys599Ter) c.1800C>A (p.Cys600Ter) | gnomAD v4 |
| 8 | g.22123768C>A | CA370492742 | HR | c.1796G>T (p.Cys599Phe) c.1799G>T (p.Cys600Phe) | |
| 8 | g.22123768C>G | CA370492744 | HR | c.1796G>C (p.Cys599Ser) c.1799G>C (p.Cys600Ser) | |
| 8 | g.22123768C>T | CA370492746 | HR | c.1796G>A (p.Cys599Tyr) c.1799G>A (p.Cys600Tyr) | gnomAD v4 |
| 8 | g.22123769A>C | CA370492753 | HR | c.1795T>G (p.Cys599Gly) c.1798T>G (p.Cys600Gly) | |
| 8 | g.22123769A>G | CA370492751 | HR | c.1795T>C (p.Cys599Arg) c.1798T>C (p.Cys600Arg) | |
| 8 | g.22123769A>T | CA370492750 | HR | c.1795T>A (p.Cys599Ser) c.1798T>A (p.Cys600Ser) | |
| 8 | g.22123770G>A | CA459891977 | HR | c.1794C>T (p.Arg598=) c.1797C>T (p.Arg599=) | |
| 8 | g.22123770G>C | CA459891979 | HR | c.1794C>G (p.Arg598=) c.1797C>G (p.Arg599=) | |
| 8 | g.22123770G>T | CA459891978 | HR | c.1794C>A (p.Arg598=) c.1797C>A (p.Arg599=) | gnomAD v4 |
| 8 | g.22123771C>A | CA370492757 | HR | c.1793G>T (p.Arg598Leu) c.1796G>T (p.Arg599Leu) | dbSNP gnomAD v4 |
| 8 | g.22123771C= | CA1770268159 | HR | c.1793G= (p.Arg598=) c.1796G= (p.Arg599=) | |
| 8 | g.22123771C>G | CA370492760 | HR | c.1793G>C (p.Arg598Pro) c.1796G>C (p.Arg599Pro) | |
| 8 | g.22123771C>T | CA173458193 | HR | c.1793G>A (p.Arg598His) c.1796G>A (p.Arg599His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123772G>A | CA4662345 | HR | c.1792C>T (p.Arg598Cys) c.1795C>T (p.Arg599Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123772G>C | CA370492763 | HR | c.1792C>G (p.Arg598Gly) c.1795C>G (p.Arg599Gly) | |
| 8 | g.22123772G= | CA1770268165 | HR | c.1792C= (p.Arg598=) c.1795C= (p.Arg599=) | |
| 8 | g.22123772G>T | CA370492766 | HR | c.1792C>A (p.Arg598Ser) c.1795C>A (p.Arg599Ser) | gnomAD v4 |
| 8 | g.22123773T>A | CA459891982 | HR | c.1791A>T (p.Pro597=) c.1794A>T (p.Pro598=) | |
| 8 | g.22123773T>C | CA459891983 | HR | c.1791A>G (p.Pro597=) c.1794A>G (p.Pro598=) | |
| 8 | g.22123773T>G | CA459891984 | HR | c.1791A>C (p.Pro597=) c.1794A>C (p.Pro598=) | |
| 8 | g.22123774G>A | CA370492770 | HR | c.1790C>T (p.Pro597Leu) c.1793C>T (p.Pro598Leu) | gnomAD v4 |
| 8 | g.22123774G>C | CA370492771 | HR | c.1790C>G (p.Pro597Arg) c.1793C>G (p.Pro598Arg) | |
| 8 | g.22123774G>T | CA370492774 | HR | c.1790C>A (p.Pro597Gln) c.1793C>A (p.Pro598Gln) | gnomAD v4 |
| 8 | g.22123775G>A | CA370492778 | HR | c.1789C>T (p.Pro597Ser) c.1792C>T (p.Pro598Ser) | |
| 8 | g.22123775G>C | CA370492780 | HR | c.1789C>G (p.Pro597Ala) c.1792C>G (p.Pro598Ala) | |
| 8 | g.22123775G>T | CA370492784 | HR | c.1789C>A (p.Pro597Thr) c.1792C>A (p.Pro598Thr) | gnomAD v4 |
| 8 | g.22123776A>C | CA370492786 | HR | c.1788T>G (p.Ile596Met) c.1791T>G (p.Ile597Met) | |
| 8 | g.22123776A>G | CA459891988 | HR | c.1788T>C (p.Ile596=) c.1791T>C (p.Ile597=) | |
| 8 | g.22123776A>T | CA459891989 | HR | c.1788T>A (p.Ile596=) c.1791T>A (p.Ile597=) | |
| 8 | g.22123777A>C | CA370492794 | HR | c.1787T>G (p.Ile596Ser) c.1790T>G (p.Ile597Ser) | gnomAD v4 |
| 8 | g.22123777A>G | CA370492791 | HR | c.1787T>C (p.Ile596Thr) c.1790T>C (p.Ile597Thr) | gnomAD v4 |
| 8 | g.22123777A>T | CA370492789 | HR | c.1787T>A (p.Ile596Asn) c.1790T>A (p.Ile597Asn) | |
| 8 | g.22123778T>A | CA370492798 | HR | c.1786A>T (p.Ile596Phe) c.1789A>T (p.Ile597Phe) | dbSNP |
| 8 | g.22123778T>C | CA370492800 | HR | c.1786A>G (p.Ile596Val) c.1789A>G (p.Ile597Val) | |
| 8 | g.22123778T>G | CA370492802 | HR | c.1786A>C (p.Ile596Leu) c.1789A>C (p.Ile597Leu) | |
| 8 | g.22123778T= | CA1770268170 | HR | c.1786A= (p.Ile596=) c.1789A= (p.Ile597=) | |
| 8 | g.22123779G>A | CA459891995 | HR | c.1785C>T (p.Gly595=) c.1788C>T (p.Gly596=) | gnomAD v4 |
| 8 | g.22123779G>C | CA459891994 | HR | c.1785C>G (p.Gly595=) c.1788C>G (p.Gly596=) | |
| 8 | g.22123779G>T | CA459891992 | HR | c.1785C>A (p.Gly595=) c.1788C>A (p.Gly596=) | gnomAD v4 |
| 8 | g.22123780C>A | CA370492805 | HR | c.1784G>T (p.Gly595Val) c.1787G>T (p.Gly596Val) | |
| 8 | g.22123780C= | CA1770268173 | HR | c.1784G= (p.Gly595=) c.1787G= (p.Gly596=) | |
| 8 | g.22123780C>G | CA370492808 | HR | c.1784G>C (p.Gly595Ala) c.1787G>C (p.Gly596Ala) | |
| 8 | g.22123780C>T | CA370492811 | HR | c.1784G>A (p.Gly595Asp) c.1787G>A (p.Gly596Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123781C>A | CA370492814 | HR | c.1783G>T (p.Gly595Cys) c.1786G>T (p.Gly596Cys) | gnomAD v4 |
| 8 | g.22123781C>G | CA370492816 | HR | c.1783G>C (p.Gly595Arg) c.1786G>C (p.Gly596Arg) | |
| 8 | g.22123781C>T | CA370492820 | HR | c.1783G>A (p.Gly595Ser) c.1786G>A (p.Gly596Ser) | gnomAD v4 |
| 8 | g.22123781_22123782del | CA2695208966 | HR | c.1782_1783del (p.Gly595HisfsTer?) c.1785_1786del (p.Gly596HisfsTer?) | |
| 8 | g.22123782T>A | CA459891996 | HR | c.1782A>T (p.Pro594=) c.1785A>T (p.Pro595=) | gnomAD v4 |
| 8 | g.22123782T>C | CA459891997 | HR | c.1782A>G (p.Pro594=) c.1785A>G (p.Pro595=) | gnomAD v4 |
| 8 | g.22123782T>G | CA459891998 | HR | c.1782A>C (p.Pro594=) c.1785A>C (p.Pro595=) | |
| 8 | g.22123783G>A | CA370492823 | HR | c.1781C>T (p.Pro594Leu) c.1784C>T (p.Pro595Leu) | gnomAD v4 |
| 8 | g.22123783G>C | CA370492826 | HR | c.1781C>G (p.Pro594Arg) c.1784C>G (p.Pro595Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22123783G= | CA1770268182 | HR | c.1781C= (p.Pro594=) c.1784C= (p.Pro595=) | |
| 8 | g.22123783G>T | CA370492829 | HR | c.1781C>A (p.Pro594Gln) c.1784C>A (p.Pro595Gln) | gnomAD v4 |
| 8 | g.22123785del | CA2686436810 | HR | c.1781del (p.Pro594GlnfsTer?) c.1784del (p.Pro595GlnfsTer?) | gnomAD v4 |
| 8 | g.22123784G>A | CA370492833 | HR | c.1780C>T (p.Pro594Ser) c.1783C>T (p.Pro595Ser) | dbSNP gnomAD v2 |
| 8 | g.22123784G>C | CA370492836 | HR | c.1780C>G (p.Pro594Ala) c.1783C>G (p.Pro595Ala) | gnomAD v4 |
| 8 | g.22123784G= | CA1770268265 | HR | c.1780C= (p.Pro594=) c.1783C= (p.Pro595=) | |
| 8 | g.22123784G>T | CA370492831 | HR | c.1780C>A (p.Pro594Thr) c.1783C>A (p.Pro595Thr) | gnomAD v4 |
| 8 | g.22123785G>A | CA173458201 | HR | c.1779C>T (p.Ser593=) c.1782C>T (p.Ser594=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123785G>C | CA370492838 | HR | c.1779C>G (p.Ser593Arg) c.1782C>G (p.Ser594Arg) | |
| 8 | g.22123785G= | CA1770268274 | HR | c.1779C= (p.Ser593=) c.1782C= (p.Ser594=) | |
| 8 | g.22123785G>T | CA370492840 | HR | c.1779C>A (p.Ser593Arg) c.1782C>A (p.Ser594Arg) | gnomAD v4 |
| 8 | g.22123786C>A | CA370492843 | HR | c.1778G>T (p.Ser593Ile) c.1781G>T (p.Ser594Ile) | gnomAD v4 |
| 8 | g.22123786C= | CA1770268279 | HR | c.1778G= (p.Ser593=) c.1781G= (p.Ser594=) | |
| 8 | g.22123786C>G | CA370492844 | HR | c.1778G>C (p.Ser593Thr) c.1781G>C (p.Ser594Thr) | dbSNP gnomAD v2 |
| 8 | g.22123786C>T | CA370492847 | HR | c.1778G>A (p.Ser593Asn) c.1781G>A (p.Ser594Asn) | gnomAD v4 |
| 8 | g.22123787T>A | CA370492852 | HR | c.1777A>T (p.Ser593Cys) c.1780A>T (p.Ser594Cys) | |
| 8 | g.22123787T>C | CA370492853 | HR | c.1777A>G (p.Ser593Gly) c.1780A>G (p.Ser594Gly) | gnomAD v4 |
| 8 | g.22123787T>G | CA370492857 | HR | c.1777A>C (p.Ser593Arg) c.1780A>C (p.Ser594Arg) | |
| 8 | g.22123788G>A | CA459892003 | HR | c.1776C>T (p.Asp592=) c.1779C>T (p.Asp593=) | gnomAD v4 |
| 8 | g.22123788G>C | CA370492860 | HR | c.1776C>G (p.Asp592Glu) c.1779C>G (p.Asp593Glu) | |
| 8 | g.22123788G>T | CA370492862 | HR | c.1776C>A (p.Asp592Glu) c.1779C>A (p.Asp593Glu) | gnomAD v4 |
| 8 | g.22123789T>A | CA370492866 | HR | c.1775A>T (p.Asp592Val) c.1778A>T (p.Asp593Val) | gnomAD v4 |
| 8 | g.22123789T>C | CA370492869 | HR | c.1775A>G (p.Asp592Gly) c.1778A>G (p.Asp593Gly) | dbSNP gnomAD v4 |
| 8 | g.22123789T>G | CA370492874 | HR | c.1775A>C (p.Asp592Ala) c.1778A>C (p.Asp593Ala) | |
| 8 | g.22123789T= | CA1770268282 | HR | c.1775A= (p.Asp592=) c.1778A= (p.Asp593=) | |
| 8 | g.22123790C>A | CA370492888 | HR | c.1774G>T (p.Asp592Tyr) c.1777G>T (p.Asp593Tyr) | dbSNP gnomAD v4 |
| 8 | g.22123790C= | CA1770268292 | HR | c.1774G= (p.Asp592=) c.1777G= (p.Asp593=) | |
| 8 | g.22123790C>G | CA370492884 | HR | c.1774G>C (p.Asp592His) c.1777G>C (p.Asp593His) | |
| 8 | g.22123790C>T | CA370492877 | HR | c.1774G>A (p.Asp592Asn) c.1777G>A (p.Asp593Asn) | |
| 8 | g.22123791C>A | CA370492891 | HR | c.1773G>T (p.Glu591Asp) c.1776G>T (p.Glu592Asp) | gnomAD v4 |
| 8 | g.22123791C>G | CA370492895 | HR | c.1773G>C (p.Glu591Asp) c.1776G>C (p.Glu592Asp) | |
| 8 | g.22123791C>T | CA459892008 | HR | c.1773G>A (p.Glu591=) c.1776G>A (p.Glu592=) | gnomAD v4 |
| 8 | g.22123792T>A | CA370492899 | HR | c.1772A>T (p.Glu591Val) c.1775A>T (p.Glu592Val) | |
| 8 | g.22123792T>C | CA4662346 | HR | c.1772A>G (p.Glu591Gly) c.1775A>G (p.Glu592Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123792T>G | CA173458204 | HR | c.1772A>C (p.Glu591Ala) c.1775A>C (p.Glu592Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22123792T= | CA1770268298 | HR | c.1772A= (p.Glu591=) c.1775A= (p.Glu592=) | |
| 8 | g.22123793C>A | CA370492909 | HR | c.1771G>T (p.Glu591Ter) c.1774G>T (p.Glu592Ter) | gnomAD v4 |
| 8 | g.22123793C>G | CA370492912 | HR | c.1771G>C (p.Glu591Gln) c.1774G>C (p.Glu592Gln) | |
| 8 | g.22123793C>T | CA370492916 | HR | c.1771G>A (p.Glu591Lys) c.1774G>A (p.Glu592Lys) | gnomAD v4 |
| 8 | g.22123794T>A | CA459892010 | HR | c.1770A>T (p.Thr590=) c.1773A>T (p.Thr591=) | |
| 8 | g.22123794T>C | CA459892011 | HR | c.1770A>G (p.Thr590=) c.1773A>G (p.Thr591=) | gnomAD v4 |
| 8 | g.22123794T>G | CA459892013 | HR | c.1770A>C (p.Thr590=) c.1773A>C (p.Thr591=) | gnomAD v4 |
| 8 | g.22123795G>A | CA370492920 | HR | c.1769C>T (p.Thr590Ile) c.1772C>T (p.Thr591Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123795G>C | CA370492923 | HR | c.1769C>G (p.Thr590Arg) c.1772C>G (p.Thr591Arg) | |
| 8 | g.22123795G= | CA1770268305 | HR | c.1769C= (p.Thr590=) c.1772C= (p.Thr591=) | |
| 8 | g.22123795G>T | CA370492927 | HR | c.1769C>A (p.Thr590Lys) c.1772C>A (p.Thr591Lys) | gnomAD v4 |
| 8 | g.22123796T>A | CA370492936 | HR | c.1768A>T (p.Thr590Ser) c.1771A>T (p.Thr591Ser) | |
| 8 | g.22123796T>C | CA370492938 | HR | c.1768A>G (p.Thr590Ala) c.1771A>G (p.Thr591Ala) | gnomAD v4 |
| 8 | g.22123796T>G | CA370492943 | HR | c.1768A>C (p.Thr590Pro) c.1771A>C (p.Thr591Pro) | |
| 8 | g.22123797C>A | CA459892016 | HR | c.1767G>T (p.Val589=) c.1770G>T (p.Val590=) | gnomAD v4 |
| 8 | g.22123797C>G | CA459892017 | HR | c.1767G>C (p.Val589=) c.1770G>C (p.Val590=) | |
| 8 | g.22123797C>T | CA459892018 | HR | c.1767G>A (p.Val589=) c.1770G>A (p.Val590=) | gnomAD v4 |
| 8 | g.22123798A= | CA1770268310 | HR | c.1766T= (p.Val589=) c.1769T= (p.Val590=) | |
| 8 | g.22123798A>C | CA370492951 | HR | c.1766T>G (p.Val589Gly) c.1769T>G (p.Val590Gly) | |
| 8 | g.22123798A>G | CA370492952 | HR | c.1766T>C (p.Val589Ala) c.1769T>C (p.Val590Ala) | ClinVar dbSNP |
| 8 | g.22123798A>T | CA370492949 | HR | c.1766T>A (p.Val589Glu) c.1769T>A (p.Val590Glu) | |
| 8 | g.22123799C>A | CA370492956 | HR | c.1765G>T (p.Val589Leu) c.1768G>T (p.Val590Leu) | gnomAD v4 |
| 8 | g.22123799C= | CA1770268315 | HR | c.1765G= (p.Val589=) c.1768G= (p.Val590=) | |
| 8 | g.22123799C>G | CA370492962 | HR | c.1765G>C (p.Val589Leu) c.1768G>C (p.Val590Leu) | |
| 8 | g.22123799C>T | CA4662347 | HR | c.1765G>A (p.Val589Met) c.1768G>A (p.Val590Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123800G>A | CA4662348 | HR | c.1764C>T (p.Ala588=) c.1767C>T (p.Ala589=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.22123800G>C | CA459892024 | HR | c.1764C>G (p.Ala588=) c.1767C>G (p.Ala589=) | |
| 8 | g.22123800G= | CA1770268319 | HR | c.1764C= (p.Ala588=) c.1767C= (p.Ala589=) | |
| 8 | g.22123800G>T | CA459892022 | HR | c.1764C>A (p.Ala588=) c.1767C>A (p.Ala589=) | gnomAD v4 |
| 8 | g.22123801G>A | CA370492973 | HR | c.1763C>T (p.Ala588Val) c.1766C>T (p.Ala589Val) | dbSNP gnomAD v4 |
| 8 | g.22123801G>C | CA370492970 | HR | c.1763C>G (p.Ala588Gly) c.1766C>G (p.Ala589Gly) | |
| 8 | g.22123801G= | CA1770268324 | HR | c.1763C= (p.Ala588=) c.1766C= (p.Ala589=) | |
| 8 | g.22123801G>T | CA370492979 | HR | c.1763C>A (p.Ala588Asp) c.1766C>A (p.Ala589Asp) | gnomAD v4 |
| 8 | g.22123802C>A | CA370492982 | HR | c.1762G>T (p.Ala588Ser) c.1765G>T (p.Ala589Ser) | gnomAD v4 |
| 8 | g.22123802C= | CA1770268329 | HR | c.1762G= (p.Ala588=) c.1765G= (p.Ala589=) | |
| 8 | g.22123802C>G | CA370492987 | HR | c.1762G>C (p.Ala588Pro) c.1765G>C (p.Ala589Pro) | |
| 8 | g.22123802C>T | CA370492984 | HR | c.1762G>A (p.Ala588Thr) c.1765G>A (p.Ala589Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123803T>A | CA459892026 | HR | c.1761A>T (p.Pro587=) c.1764A>T (p.Pro588=) | gnomAD v4 |
| 8 | g.22123803T>C | CA459892027 | HR | c.1761A>G (p.Pro587=) c.1764A>G (p.Pro588=) | gnomAD v4 |
| 8 | g.22123803T>G | CA459892028 | HR | c.1761A>C (p.Pro587=) c.1764A>C (p.Pro588=) | |
| 8 | g.22123804G>A | CA370492988 | HR | c.1760C>T (p.Pro587Leu) c.1763C>T (p.Pro588Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123804G>C | CA370492993 | HR | c.1760C>G (p.Pro587Arg) c.1763C>G (p.Pro588Arg) | |
| 8 | g.22123804G= | CA1770268333 | HR | c.1760C= (p.Pro587=) c.1763C= (p.Pro588=) | |
| 8 | g.22123804G>T | CA370492990 | HR | c.1760C>A (p.Pro587Gln) c.1763C>A (p.Pro588Gln) | gnomAD v4 |
| 8 | g.22123805G>A | CA370492997 | HR | c.1759C>T (p.Pro587Ser) c.1762C>T (p.Pro588Ser) | gnomAD v4 |
| 8 | g.22123805G>C | CA370493001 | HR | c.1759C>G (p.Pro587Ala) c.1762C>G (p.Pro588Ala) | |
| 8 | g.22123805G>T | CA370493003 | HR | c.1759C>A (p.Pro587Thr) c.1762C>A (p.Pro588Thr) | gnomAD v4 |
| 8 | g.22123806C>A | CA459892030 | HR | c.1758G>T (p.Gly586=) c.1761G>T (p.Gly587=) | gnomAD v4 |
| 8 | g.22123806C>G | CA459892031 | HR | c.1758G>C (p.Gly586=) c.1761G>C (p.Gly587=) | |
| 8 | g.22123806C>T | CA459892032 | HR | c.1758G>A (p.Gly586=) c.1761G>A (p.Gly587=) | gnomAD v4 |
| 8 | g.22123808del | CA2686436811 | HR | c.1758del (p.Pro587GlnfsTer3) c.1761del (p.Pro588GlnfsTer3) | gnomAD v4 |
| 8 | g.22123807C>A | CA370493006 | HR | c.1757G>T (p.Gly586Val) c.1760G>T (p.Gly587Val) | gnomAD v4 |
| 8 | g.22123807C>G | CA370493008 | HR | c.1757G>C (p.Gly586Ala) c.1760G>C (p.Gly587Ala) | |
| 8 | g.22123807C>T | CA370493011 | HR | c.1757G>A (p.Gly586Glu) c.1760G>A (p.Gly587Glu) | gnomAD v4 |
| 8 | g.22123808C>A | CA370493014 | HR | c.1756G>T (p.Gly586Trp) c.1759G>T (p.Gly587Trp) | gnomAD v4 |
| 8 | g.22123808C>G | CA370493017 | HR | c.1756G>C (p.Gly586Arg) c.1759G>C (p.Gly587Arg) | |
| 8 | g.22123808C>T | CA370493020 | HR | c.1756G>A (p.Gly586Arg) c.1759G>A (p.Gly587Arg) | |
| 8 | g.22123809T>A | CA370493023 | HR | c.1755A>T (p.Gln585His) c.1758A>T (p.Gln586His) | gnomAD v4 |
| 8 | g.22123809T>C | CA459892035 | HR | c.1755A>G (p.Gln585=) c.1758A>G (p.Gln586=) | |
| 8 | g.22123809T>G | CA370493026 | HR | c.1755A>C (p.Gln585His) c.1758A>C (p.Gln586His) | |
| 8 | g.22123810T>A | CA370493034 | HR | c.1754A>T (p.Gln585Leu) c.1757A>T (p.Gln586Leu) | |
| 8 | g.22123810T>C | CA173458218 | HR | c.1754A>G (p.Gln585Arg) c.1757A>G (p.Gln586Arg) | dbSNP |
| 8 | g.22123810T>G | CA370493030 | HR | c.1754A>C (p.Gln585Pro) c.1757A>C (p.Gln586Pro) | |
| 8 | g.22123810T= | CA1770268341 | HR | c.1754A= (p.Gln585=) c.1757A= (p.Gln586=) | |
| 8 | g.22123811G>A | CA370493036 | HR | c.1753C>T (p.Gln585Ter) c.1756C>T (p.Gln586Ter) | gnomAD v4 |
| 8 | g.22123811G>C | CA370493038 | HR | c.1753C>G (p.Gln585Glu) c.1756C>G (p.Gln586Glu) | |
| 8 | g.22123811G= | CA1770268343 | HR | c.1753C= (p.Gln585=) c.1756C= (p.Gln586=) | |
| 8 | g.22123811G>T | CA370493044 | HR | c.1753C>A (p.Gln585Lys) c.1756C>A (p.Gln586Lys) | gnomAD v4 |
| 8 | g.22123812G>A | CA459892036 | HR | c.1752C>T (p.Gly584=) c.1755C>T (p.Gly585=) | |
| 8 | g.22123812G>C | CA459892039 | HR | c.1752C>G (p.Gly584=) c.1755C>G (p.Gly585=) | |
| 8 | g.22123812G>T | CA459892038 | HR | c.1752C>A (p.Gly584=) c.1755C>A (p.Gly585=) | gnomAD v4 |
| 8 | g.22123812_22123814dup | CA580950603 | HR | c.1751-1_1752dup c.1753_1755dup (p.Gly585_Gln586insGly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123813C>A | CA370493047 | HR | c.1751G>T (p.Gly584Val) c.1754G>T (p.Gly585Val) | |
| 8 | g.22123813C= | CA1770268350 | HR | c.1751G= (p.Gly584=) c.1754G= (p.Gly585=) | |
| 8 | g.22123813C>G | CA370493048 | HR | c.1751G>C (p.Gly584Ala) c.1754G>C (p.Gly585Ala) | |
| 8 | g.22123813C>T | CA370493050 | HR | c.1751G>A (p.Gly584Asp) c.1754G>A (p.Gly585Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22123814C>A | CA4662349 | HR | c.1751-1G>T (n.1751-1G>T) c.1753G>T (p.Gly585Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22123814C= | CA1770268352 | HR | c.1751-1G= (n.1751-1G=) c.1753G= (p.Gly585=) | |
| 8 | g.22123814C>G | CA370493054 | HR | c.1751-1G>C (n.1751-1G>C) c.1753G>C (p.Gly585Arg) | |
| 8 | g.22123814C>T | CA173458228 | HR | c.1751-1G>A (n.1751-1G>A) c.1753G>A (p.Gly585Ser) | dbSNP |
| 8 | g.22123815T>A | CA370493058 | HR | c.1751-2A>T (n.1751-2A>T) c.1752A>T (p.Ala584=) | |
| 8 | g.22123815T>C | CA370493059 | HR | c.1751-2A>G (n.1751-2A>G) c.1752A>G (p.Ala584=) | |
| 8 | g.22123815T>G | CA370493060 | HR | c.1751-2A>C (n.1751-2A>C) c.1752A>C (p.Ala584=) | |
| 8 | g.22123816G>A | CA2686436812 | HR | c.1751-3C>T (n.1751-3C>T) c.1751C>T (p.Ala584Val) | gnomAD v4 |
| 8 | g.22123816G>T | CA2686436813 | HR | c.1751-3C>A (n.1751-3C>A) c.1751C>A (p.Ala584Glu) | gnomAD v4 |
| 8 | g.22123817C>A | CA2686436814 | HR | c.1751-4G>T (n.1751-4G>T) c.1751-1G>T (n.1751-1G>T) | gnomAD v4 |
| 8 | g.22123817C>T | CA2686436815 | HR | c.1751-4G>A (n.1751-4G>A) c.1751-1G>A (n.1751-1G>A) | gnomAD v4 |
| 8 | g.22123818T>A | CA2579110253 | HR | c.1751-5A>T (n.1751-5A>T) c.1751-2A>T (n.1751-2A>T) | |
| 8 | g.22123818T>C | CA4662350 | HR | c.1751-5A>G (n.1751-5A>G) c.1751-2A>G (n.1751-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123818T= | CA1770268357 | HR | c.1751-5A= (n.1751-5A=) c.1751-2A= (n.1751-2A=) | |
| 8 | g.22123819G>A | CA645545417 | HR | c.1751-6C>T (n.1751-6C>T) c.1751-3C>T (n.1751-3C>T) | gnomAD v4 COSMIC |
| 8 | g.22123819G>T | CA2686436816 | HR | c.1751-6C>A (n.1751-6C>A) c.1751-3C>A (n.1751-3C>A) | gnomAD v4 |
| 8 | g.22123821C>A | CA2686436817 | HR | c.1751-8G>T (n.1751-8G>T) c.1751-5G>T (n.1751-5G>T) | gnomAD v4 |
| 8 | g.22123821C>T | CA2779362204 | HR | c.1751-8G>A (n.1751-8G>A) c.1751-5G>A (n.1751-5G>A) | |
| 8 | g.22123822C>A | CA2686436819 | HR | c.1751-9G>T (n.1751-9G>T) c.1751-6G>T (n.1751-6G>T) | gnomAD v4 |
| 8 | g.22123822C>T | CA2686436818 | HR | c.1751-9G>A (n.1751-9G>A) c.1751-6G>A (n.1751-6G>A) | gnomAD v4 |
| 8 | g.22123823A= | CA1770268361 | HR | c.1751-10T= (n.1751-10T=) c.1751-7T= (n.1751-7T=) | |
| 8 | g.22123823A>T | CA580950604 | HR | c.1751-10T>A (n.1751-10T>A) c.1751-7T>A (n.1751-7T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123824C>A | CA2686436820 | HR | c.1751-11G>T (n.1751-11G>T) c.1751-8G>T (n.1751-8G>T) | gnomAD v4 |
| 8 | g.22123824C= | CA1770268363 | HR | c.1751-11G= (n.1751-11G=) c.1751-8G= (n.1751-8G=) | |
| 8 | g.22123824C>T | CA4662351 | HR | c.1751-11G>A (n.1751-11G>A) c.1751-8G>A (n.1751-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123824_22123825insA | CA1770268369 | HR | c.1751-12_1751-11insT (n.1751-12_1751-11insT) c.1751-9_1751-8insT (n.1751-9_1751-8insT) | dbSNP |
| 8 | g.22123825G>A | CA4662352 | HR | c.1751-12C>T (n.1751-12C>T) c.1751-9C>T (n.1751-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123825G= | CA1770268366 | HR | c.1751-12C= (n.1751-12C=) c.1751-9C= (n.1751-9C=) | |
| 8 | g.22123825G>T | CA2686436821 | HR | c.1751-12C>A (n.1751-12C>A) c.1751-9C>A (n.1751-9C>A) | gnomAD v4 |
| 8 | g.22123826G>T | CA2686436822 | HR | c.1751-13C>A (n.1751-13C>A) c.1751-10C>A (n.1751-10C>A) | gnomAD v4 |
| 8 | g.22123827A= | CA1770268372 | HR | c.1751-14T= (n.1751-14T=) c.1751-11T= (n.1751-11T=) | |
| 8 | g.22123827A>G | CA580950605 | HR | c.1751-14T>C (n.1751-14T>C) c.1751-11T>C (n.1751-11T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123828G>A | CA580950606 | HR | c.1751-15C>T (n.1751-15C>T) c.1751-12C>T (n.1751-12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123828G>C | CA2686436823 | HR | c.1751-15C>G (n.1751-15C>G) c.1751-12C>G (n.1751-12C>G) | gnomAD v4 |
| 8 | g.22123828G= | CA1770268377 | HR | c.1751-15C= (n.1751-15C=) c.1751-12C= (n.1751-12C=) | |
| 8 | g.22123828G>T | CA2686436824 | HR | c.1751-15C>A (n.1751-15C>A) c.1751-12C>A (n.1751-12C>A) | gnomAD v4 |
| 8 | g.22123829A>C | CA2686436825 | HR | c.1751-16T>G (n.1751-16T>G) c.1751-13T>G (n.1751-13T>G) | gnomAD v4 |
| 8 | g.22123830G>T | CA2686436826 | HR | c.1751-17C>A (n.1751-17C>A) c.1751-14C>A (n.1751-14C>A) | gnomAD v4 |
| 8 | g.22123831A= | CA1770268382 | HR | c.1751-18T= (n.1751-18T=) c.1751-15T= (n.1751-15T=) | |
| 8 | g.22123831A>G | CA1770268383 | HR | c.1751-18T>C (n.1751-18T>C) c.1751-15T>C (n.1751-15T>C) | dbSNP gnomAD v4 |
| 8 | g.22123832A>G | CA2686436827 | HR | c.1751-19T>C (n.1751-19T>C) c.1751-16T>C (n.1751-16T>C) | gnomAD v4 |
| 8 | g.22123833C>A | CA2686436828 | HR | c.1751-20G>T (n.1751-20G>T) c.1751-17G>T (n.1751-17G>T) | gnomAD v4 |
| 8 | g.22123833C>T | CA2686436829 | HR | c.1751-20G>A (n.1751-20G>A) c.1751-17G>A (n.1751-17G>A) | gnomAD v4 |
| 8 | g.22123834A>G | CA2686436830 | HR | c.1751-21T>C (n.1751-21T>C) c.1751-18T>C (n.1751-18T>C) | gnomAD v4 |
| 8 | g.22123834A>T | CA2686436831 | HR | c.1751-21T>A (n.1751-21T>A) c.1751-18T>A (n.1751-18T>A) | gnomAD v4 |
| 8 | g.22123835G>A | CA4662353 | HR | c.1751-22C>T (n.1751-22C>T) c.1751-19C>T (n.1751-19C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22123835G>C | CA2686436833 | HR | c.1751-22C>G (n.1751-22C>G) c.1751-19C>G (n.1751-19C>G) | gnomAD v4 |
| 8 | g.22123835G= | CA1770268404 | HR | c.1751-22C= (n.1751-22C=) c.1751-19C= (n.1751-19C=) | |
| 8 | g.22123835G>T | CA2686436834 | HR | c.1751-22C>A (n.1751-22C>A) c.1751-19C>A (n.1751-19C>A) | gnomAD v4 |
| 8 | g.22123837del | CA2686436832 | HR | c.1751-22del (n.1751-22del) c.1751-19del (n.1751-19del) | gnomAD v4 |
| 8 | g.22123836G>A | CA2579110254 | HR | c.1751-23C>T (n.1751-23C>T) c.1751-20C>T (n.1751-20C>T) | gnomAD v4 |
| 8 | g.22123836G>T | CA2686436835 | HR | c.1751-23C>A (n.1751-23C>A) c.1751-20C>A (n.1751-20C>A) | dbSNP gnomAD v4 |
| 8 | g.22123837G>T | CA2686436836 | HR | c.1751-24C>A (n.1751-24C>A) c.1751-21C>A (n.1751-21C>A) | gnomAD v4 |
| 8 | g.22123838T>C | CA580950607 | HR | c.1751-25A>G (n.1751-25A>G) c.1751-22A>G (n.1751-22A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123838T>G | CA1770268409 | HR | c.1751-25A>C (n.1751-25A>C) c.1751-22A>C (n.1751-22A>C) | dbSNP |
| 8 | g.22123838T= | CA1770268408 | HR | c.1751-25A= (n.1751-25A=) c.1751-22A= (n.1751-22A=) | |
| 8 | g.22123839C= | CA1770268417 | HR | c.1751-26G= (n.1751-26G=) c.1751-23G= (n.1751-23G=) | |
| 8 | g.22123839C>G | CA4662355 | HR | c.1751-26G>C (n.1751-26G>C) c.1751-23G>C (n.1751-23G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123839C>T | CA4662354 | HR | c.1751-26G>A (n.1751-26G>A) c.1751-23G>A (n.1751-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123840A= | CA1770268424 | HR | c.1751-27T= (n.1751-27T=) c.1751-24T= (n.1751-24T=) | |
| 8 | g.22123840A>G | CA4662356 | HR | c.1751-27T>C (n.1751-27T>C) c.1751-24T>C (n.1751-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22123841G>A | CA580950608 | HR | c.1751-28C>T (n.1751-28C>T) c.1751-25C>T (n.1751-25C>T) | dbSNP gnomAD v2 |
| 8 | g.22123841G= | CA1770268426 | HR | c.1751-28C= (n.1751-28C=) c.1751-25C= (n.1751-25C=) | |
| 8 | g.22123841G>T | CA2686436837 | HR | c.1751-28C>A (n.1751-28C>A) c.1751-25C>A (n.1751-25C>A) | gnomAD v4 |
| 8 | g.22123842del | CA2686436838 | HR | c.1751-29del (n.1751-29del) c.1751-26del (n.1751-26del) | gnomAD v4 |
| 8 | g.22123842A= | CA1770268429 | HR | c.1751-29T= (n.1751-29T=) c.1751-26T= (n.1751-26T=) | |
| 8 | g.22123842A>G | CA4662357 | HR | c.1751-29T>C (n.1751-29T>C) c.1751-26T>C (n.1751-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.22123842A>T | CA2686436839 | HR | c.1751-29T>A (n.1751-29T>A) c.1751-26T>A (n.1751-26T>A) | gnomAD v4 |
| 8 | g.22123843G>A | CA580950609 | HR | c.1751-30C>T (n.1751-30C>T) c.1751-27C>T (n.1751-27C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123843G= | CA1770268431 | HR | c.1751-30C= (n.1751-30C=) c.1751-27C= (n.1751-27C=) | |
| 8 | g.22123843G>T | CA2579110255 | HR | c.1751-30C>A (n.1751-30C>A) c.1751-27C>A (n.1751-27C>A) | gnomAD v4 |
| 8 | g.22123844G>A | CA580950610 | HR | c.1751-31C>T (n.1751-31C>T) c.1751-28C>T (n.1751-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123844G= | CA1770268435 | HR | c.1751-31C= (n.1751-31C=) c.1751-28C= (n.1751-28C=) | |
| 8 | g.22123844G>T | CA2686436840 | HR | c.1751-31C>A (n.1751-31C>A) c.1751-28C>A (n.1751-28C>A) | gnomAD v4 |
| 8 | g.22123845G>A | CA2686436841 | HR | c.1751-32C>T (n.1751-32C>T) c.1751-29C>T (n.1751-29C>T) | gnomAD v4 |
| 8 | g.22123845G>T | CA2686436842 | HR | c.1751-32C>A (n.1751-32C>A) c.1751-29C>A (n.1751-29C>A) | gnomAD v4 |
| 8 | g.22123846T>G | CA1111724468 | HR | c.1751-33A>C (n.1751-33A>C) c.1751-30A>C (n.1751-30A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.22123846T= | CA1770268438 | HR | c.1751-33A= (n.1751-33A=) c.1751-30A= (n.1751-30A=) | |
| 8 | g.22123847G>A | CA4662358 | HR | c.1751-34C>T (n.1751-34C>T) c.1751-31C>T (n.1751-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.22123847G= | CA1770268448 | HR | c.1751-34C= (n.1751-34C=) c.1751-31C= (n.1751-31C=) | |
| 8 | g.22123848A= | CA1770268452 | HR | c.1751-35T= (n.1751-35T=) c.1751-32T= (n.1751-32T=) | |
| 8 | g.22123848A>G | CA580950611 | HR | c.1751-35T>C (n.1751-35T>C) c.1751-32T>C (n.1751-32T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.22123849del | CA2686436843 | HR | c.1751-35del (n.1751-35del) c.1751-32del (n.1751-32del) | gnomAD v4 |