12 | g.5045693G>A | CA6399892 | KCNA5 | c.1546G>A (p.Val516Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045693G>C | CA383466711 | KCNA5 | c.1546G>C (p.Val516Leu)
| |
12 | g.5045693G= | CA2013431345 | KCNA5 | c.1546G= (p.Val516=)
| |
12 | g.5045693G>T | CA383466712 | KCNA5 | c.1546G>T (p.Val516Phe)
| |
12 | g.5045694T>A | CA383466713 | KCNA5 | c.1547T>A (p.Val516Asp)
| |
12 | g.5045694T>C | CA383466715 | KCNA5 | c.1547T>C (p.Val516Ala)
| |
12 | g.5045694T>G | CA383466714 | KCNA5 | c.1547T>G (p.Val516Gly)
| |
12 | g.5045696_5045697del | CA2617209927 | KCNA5 | c.1549_1550del (p.Ser517GlnfsTer19)
| gnomAD v4 |
12 | g.5045695C>A | CA478096129 | KCNA5 | c.1548C>A (p.Val516=)
| |
12 | g.5045695C= | CA2013431346 | KCNA5 | c.1548C= (p.Val516=)
| |
12 | g.5045695C>G | CA6399893 | KCNA5 | c.1548C>G (p.Val516=)
| dbSNP ExAC gnomAD v2 |
12 | g.5045695C>T | CA478096128 | KCNA5 | c.1548C>T (p.Val516=)
| |
12 | g.5045696T>A | CA383466716 | KCNA5 | c.1549T>A (p.Ser517Thr)
| dbSNP |
12 | g.5045696T>C | CA383466717 | KCNA5 | c.1549T>C (p.Ser517Pro)
| |
12 | g.5045696T>G | CA383466718 | KCNA5 | c.1549T>G (p.Ser517Ala)
| |
12 | g.5045697C>A | CA383466719 | KCNA5 | c.1550C>A (p.Ser517Tyr)
| |
12 | g.5045697C>G | CA383466721 | KCNA5 | c.1550C>G (p.Ser517Cys)
| gnomAD v4 |
12 | g.5045697C>T | CA383466720 | KCNA5 | c.1550C>T (p.Ser517Phe)
| |
12 | g.5045698C>A | CA478096130 | KCNA5 | c.1551C>A (p.Ser517=)
| |
12 | g.5045698C>G | CA478096131 | KCNA5 | c.1551C>G (p.Ser517=)
| |
12 | g.5045698C>T | CA478096132 | KCNA5 | c.1551C>T (p.Ser517=)
| |
12 | g.5045699A>C | CA383466722 | KCNA5 | c.1552A>C (p.Asn518His)
| |
12 | g.5045699A>G | CA383466723 | KCNA5 | c.1552A>G (p.Asn518Asp)
| |
12 | g.5045699A>T | CA383466724 | KCNA5 | c.1552A>T (p.Asn518Tyr)
| |
12 | g.5045700A>C | CA383466725 | KCNA5 | c.1553A>C (p.Asn518Thr)
| |
12 | g.5045700A>G | CA383466726 | KCNA5 | c.1553A>G (p.Asn518Ser)
| |
12 | g.5045700A>T | CA383466727 | KCNA5 | c.1553A>T (p.Asn518Ile)
| |
12 | g.5045701C>A | CA383466728 | KCNA5 | c.1554C>A (p.Asn518Lys)
| |
12 | g.5045701C>G | CA383466729 | KCNA5 | c.1554C>G (p.Asn518Lys)
| gnomAD v4 |
12 | g.5045701C>T | CA478096134 | KCNA5 | c.1554C>T (p.Asn518=)
| |
12 | g.5045701dup | CA2499221726 | KCNA5 | c.1554dup (p.Phe519LeufsTer18)
| ClinVar dbSNP |
12 | g.5045702T>A | CA383466730 | KCNA5 | c.1555T>A (p.Phe519Ile)
| |
12 | g.5045702T>C | CA383466731 | KCNA5 | c.1555T>C (p.Phe519Leu)
| gnomAD v4 |
12 | g.5045702T>G | CA383466732 | KCNA5 | c.1555T>G (p.Phe519Val)
| |
12 | g.5045703T>A | CA383466735 | KCNA5 | c.1556T>A (p.Phe519Tyr)
| |
12 | g.5045703T>C | CA383466734 | KCNA5 | c.1556T>C (p.Phe519Ser)
| |
12 | g.5045703T>G | CA383466733 | KCNA5 | c.1556T>G (p.Phe519Cys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045703T= | CA2013431347 | KCNA5 | c.1556T= (p.Phe519=)
| |
12 | g.5045704C>A | CA383466736 | KCNA5 | c.1557C>A (p.Phe519Leu)
| |
12 | g.5045704C>G | CA383466737 | KCNA5 | c.1557C>G (p.Phe519Leu)
| |
12 | g.5045704C>T | CA478096135 | KCNA5 | c.1557C>T (p.Phe519=)
| COSMIC |
12 | g.5045705A= | CA2013431348 | KCNA5 | c.1558A= (p.Asn520=)
| |
12 | g.5045705A>C | CA383466738 | KCNA5 | c.1558A>C (p.Asn520His)
| dbSNP |
12 | g.5045705A>G | CA383466740 | KCNA5 | c.1558A>G (p.Asn520Asp)
| |
12 | g.5045705A>T | CA383466739 | KCNA5 | c.1558A>T (p.Asn520Tyr)
| |
12 | g.5045706A>C | CA383466741 | KCNA5 | c.1559A>C (p.Asn520Thr)
| |
12 | g.5045706A>G | CA383466743 | KCNA5 | c.1559A>G (p.Asn520Ser)
| gnomAD v4 |
12 | g.5045706A>T | CA383466742 | KCNA5 | c.1559A>T (p.Asn520Ile)
| |
12 | g.5045707C>A | CA383466744 | KCNA5 | c.1560C>A (p.Asn520Lys)
| |
12 | g.5045707C>G | CA383466745 | KCNA5 | c.1560C>G (p.Asn520Lys)
| |
12 | g.5045707C>T | CA478096136 | KCNA5 | c.1560C>T (p.Asn520=)
| |
12 | g.5045708T>A | CA383466746 | KCNA5 | c.1561T>A (p.Tyr521Asn)
| COSMIC |
12 | g.5045708T>C | CA383466748 | KCNA5 | c.1561T>C (p.Tyr521His)
| |
12 | g.5045708T>G | CA383466747 | KCNA5 | c.1561T>G (p.Tyr521Asp)
| |
12 | g.5045709A= | CA2013431349 | KCNA5 | c.1562A= (p.Tyr521=)
| |
12 | g.5045709A>C | CA383466749 | KCNA5 | c.1562A>C (p.Tyr521Ser)
| gnomAD v4 |
12 | g.5045709A>G | CA383466750 | KCNA5 | c.1562A>G (p.Tyr521Cys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045709A>T | CA383466751 | KCNA5 | c.1562A>T (p.Tyr521Phe)
| |
12 | g.5045710C>A | CA383466752 | KCNA5 | c.1563C>A (p.Tyr521Ter)
| |
12 | g.5045710C= | CA2013431350 | KCNA5 | c.1563C= (p.Tyr521=)
| |
12 | g.5045710C>G | CA383466753 | KCNA5 | c.1563C>G (p.Tyr521Ter)
| gnomAD v4 |
12 | g.5045710C>T | CA231869092 | KCNA5 | c.1563C>T (p.Tyr521=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045711T>A | CA383466754 | KCNA5 | c.1564T>A (p.Phe522Ile)
| |
12 | g.5045711T>C | CA383466755 | KCNA5 | c.1564T>C (p.Phe522Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045711T>G | CA383466756 | KCNA5 | c.1564T>G (p.Phe522Val)
| |
12 | g.5045711T= | CA2013431351 | KCNA5 | c.1564T= (p.Phe522=)
| |
12 | g.5045712T>A | CA383466757 | KCNA5 | c.1565T>A (p.Phe522Tyr)
| |
12 | g.5045712T>C | CA383466758 | KCNA5 | c.1565T>C (p.Phe522Ser)
| ClinVar dbSNP |
12 | g.5045712T>G | CA383466759 | KCNA5 | c.1565T>G (p.Phe522Cys)
| gnomAD v4 |
12 | g.5045712T= | CA2013431352 | KCNA5 | c.1565T= (p.Phe522=)
| |
12 | g.5045713C>A | CA383466761 | KCNA5 | c.1566C>A (p.Phe522Leu)
| |
12 | g.5045713C= | CA2013431353 | KCNA5 | c.1566C= (p.Phe522=)
| |
12 | g.5045713C>G | CA383466760 | KCNA5 | c.1566C>G (p.Phe522Leu)
| |
12 | g.5045713C>T | CA478096139 | KCNA5 | c.1566C>T (p.Phe522=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045714T>A | CA383466762 | KCNA5 | c.1567T>A (p.Tyr523Asn)
| |
12 | g.5045714T>C | CA383466763 | KCNA5 | c.1567T>C (p.Tyr523His)
| |
12 | g.5045714T>G | CA383466764 | KCNA5 | c.1567T>G (p.Tyr523Asp)
| |
12 | g.5045715A>C | CA383466765 | KCNA5 | c.1568A>C (p.Tyr523Ser)
| |
12 | g.5045715A>G | CA383466766 | KCNA5 | c.1568A>G (p.Tyr523Cys)
| |
12 | g.5045715A>T | CA383466767 | KCNA5 | c.1568A>T (p.Tyr523Phe)
| |
12 | g.5045716C>A | CA383466768 | KCNA5 | c.1569C>A (p.Tyr523Ter)
| |
12 | g.5045716C>G | CA383466769 | KCNA5 | c.1569C>G (p.Tyr523Ter)
| |
12 | g.5045716C>T | CA478096141 | KCNA5 | c.1569C>T (p.Tyr523=)
| |
12 | g.5045717C>A | CA383466770 | KCNA5 | c.1570C>A (p.His524Asn)
| |
12 | g.5045717C= | CA2013431354 | KCNA5 | c.1570C= (p.His524=)
| |
12 | g.5045717C>G | CA383466771 | KCNA5 | c.1570C>G (p.His524Asp)
| |
12 | g.5045717C>T | CA383466772 | KCNA5 | c.1570C>T (p.His524Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045718A>C | CA383466774 | KCNA5 | c.1571A>C (p.His524Pro)
| |
12 | g.5045718A>G | CA383466775 | KCNA5 | c.1571A>G (p.His524Arg)
| |
12 | g.5045718A>T | CA383466773 | KCNA5 | c.1571A>T (p.His524Leu)
| |
12 | g.5045719C>A | CA383466776 | KCNA5 | c.1572C>A (p.His524Gln)
| |
12 | g.5045719C= | CA2013431355 | KCNA5 | c.1572C= (p.His524=)
| |
12 | g.5045719C>G | CA383466777 | KCNA5 | c.1572C>G (p.His524Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045719C>T | CA478096149 | KCNA5 | c.1572C>T (p.His524=)
| |
12 | g.5045720C>A | CA478096154 | KCNA5 | c.1573C>A (p.Arg525=)
| dbSNP gnomAD v4 |
12 | g.5045720C= | CA2013431356 | KCNA5 | c.1573C= (p.Arg525=)
| |
12 | g.5045720C>G | CA383466778 | KCNA5 | c.1573C>G (p.Arg525Gly)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045720C>T | CA6399894 | KCNA5 | c.1573C>T (p.Arg525Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045721G>A | CA383466779 | KCNA5 | c.1574G>A (p.Arg525Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045721G>C | CA383466780 | KCNA5 | c.1574G>C (p.Arg525Pro)
| gnomAD v4 |
12 | g.5045721G= | CA2013431357 | KCNA5 | c.1574G= (p.Arg525=)
| |
12 | g.5045721G>T | CA383466781 | KCNA5 | c.1574G>T (p.Arg525Leu)
| |
12 | g.5045722G>A | CA478096161 | KCNA5 | c.1575G>A (p.Arg525=)
| gnomAD v4 |
12 | g.5045722G>C | CA478096163 | KCNA5 | c.1575G>C (p.Arg525=)
| |
12 | g.5045722G>T | CA478096162 | KCNA5 | c.1575G>T (p.Arg525=)
| |
12 | g.5045723G>A | CA383466782 | KCNA5 | c.1576G>A (p.Glu526Lys)
| |
12 | g.5045723G>C | CA231869097 | KCNA5 | c.1576G>C (p.Glu526Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045723G= | CA2013431358 | KCNA5 | c.1576G= (p.Glu526=)
| |
12 | g.5045723G>T | CA383466783 | KCNA5 | c.1576G>T (p.Glu526Ter)
| |
12 | g.5045724A>C | CA383466784 | KCNA5 | c.1577A>C (p.Glu526Ala)
| |
12 | g.5045724A>G | CA383466785 | KCNA5 | c.1577A>G (p.Glu526Gly)
| COSMIC |
12 | g.5045724A>T | CA383466786 | KCNA5 | c.1577A>T (p.Glu526Val)
| |
12 | g.5045725A= | CA2013431359 | KCNA5 | c.1578A= (p.Glu526=)
| |
12 | g.5045725A>C | CA383466788 | KCNA5 | c.1578A>C (p.Glu526Asp)
| ClinVar |
12 | g.5045725A>G | CA6399895 | KCNA5 | c.1578A>G (p.Glu526=)
| dbSNP ExAC gnomAD v2 |
12 | g.5045725A>T | CA383466787 | KCNA5 | c.1578A>T (p.Glu526Asp)
| COSMIC |
12 | g.5045726A>C | CA383466789 | KCNA5 | c.1579A>C (p.Thr527Pro)
| |
12 | g.5045726A>G | CA383466790 | KCNA5 | c.1579A>G (p.Thr527Ala)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045726A>T | CA383466791 | KCNA5 | c.1579A>T (p.Thr527Ser)
| |
12 | g.5045727C>A | CA383466792 | KCNA5 | c.1580C>A (p.Thr527Lys)
| COSMIC |
12 | g.5045727C= | CA2013431360 | KCNA5 | c.1580C= (p.Thr527=)
| |
12 | g.5045727C>G | CA383466793 | KCNA5 | c.1580C>G (p.Thr527Arg)
| |
12 | g.5045727C>T | CA123124 | KCNA5 | c.1580C>T (p.Thr527Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045728G>A | CA6399896 | KCNA5 | c.1581G>A (p.Thr527=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045728G>C | CA478096178 | KCNA5 | c.1581G>C (p.Thr527=)
| |
12 | g.5045728G= | CA2013431361 | KCNA5 | c.1581G= (p.Thr527=)
| |
12 | g.5045728G>T | CA478096176 | KCNA5 | c.1581G>T (p.Thr527=)
| COSMIC |
12 | g.5045729G>A | CA383466794 | KCNA5 | c.1582G>A (p.Asp528Asn)
| COSMIC |
12 | g.5045729G>C | CA383466795 | KCNA5 | c.1582G>C (p.Asp528His)
| |
12 | g.5045729G>T | CA383466796 | KCNA5 | c.1582G>T (p.Asp528Tyr)
| |
12 | g.5045730A>C | CA383466797 | KCNA5 | c.1583A>C (p.Asp528Ala)
| |
12 | g.5045730A>G | CA383466798 | KCNA5 | c.1583A>G (p.Asp528Gly)
| |
12 | g.5045730A>T | CA383466799 | KCNA5 | c.1583A>T (p.Asp528Val)
| |
12 | g.5045731T>A | CA383466801 | KCNA5 | c.1584T>A (p.Asp528Glu)
| |
12 | g.5045731T>C | CA478096183 | KCNA5 | c.1584T>C (p.Asp528=)
| |
12 | g.5045731T>G | CA383466800 | KCNA5 | c.1584T>G (p.Asp528Glu)
| |
12 | g.5045732C>A | CA383466802 | KCNA5 | c.1585C>A (p.His529Asn)
| gnomAD v4 |
12 | g.5045732C>G | CA383466804 | KCNA5 | c.1585C>G (p.His529Asp)
| |
12 | g.5045732C>T | CA383466803 | KCNA5 | c.1585C>T (p.His529Tyr)
| |
12 | g.5045733A= | CA2013431362 | KCNA5 | c.1586A= (p.His529=)
| |
12 | g.5045733A>C | CA383466805 | KCNA5 | c.1586A>C (p.His529Pro)
| dbSNP gnomAD v4 |
12 | g.5045733A>G | CA383466806 | KCNA5 | c.1586A>G (p.His529Arg)
| |
12 | g.5045733A>T | CA383466807 | KCNA5 | c.1586A>T (p.His529Leu)
| |
12 | g.5045734C>A | CA383466808 | KCNA5 | c.1587C>A (p.His529Gln)
| COSMIC |
12 | g.5045734C= | CA2013431363 | KCNA5 | c.1587C= (p.His529=)
| |
12 | g.5045734C>G | CA383466809 | KCNA5 | c.1587C>G (p.His529Gln)
| gnomAD v4 |
12 | g.5045734C>T | CA6399897 | KCNA5 | c.1587C>T (p.His529=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045735G>A | CA231869110 | KCNA5 | c.1588G>A (p.Glu530Lys)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045735G>C | CA231869109 | KCNA5 | c.1588G>C (p.Glu530Gln)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045735G= | CA2013431364 | KCNA5 | c.1588G= (p.Glu530=)
| |
12 | g.5045735G>T | CA383466810 | KCNA5 | c.1588G>T (p.Glu530Ter)
| ClinVar dbSNP |
12 | g.5045736A>C | CA383466811 | KCNA5 | c.1589A>C (p.Glu530Ala)
| |
12 | g.5045736A>G | CA383466812 | KCNA5 | c.1589A>G (p.Glu530Gly)
| |
12 | g.5045736A>T | CA383466813 | KCNA5 | c.1589A>T (p.Glu530Val)
| |
12 | g.5045737G>A | CA478096192 | KCNA5 | c.1590G>A (p.Glu530=)
| dbSNP gnomAD v4 |
12 | g.5045737G>C | CA383466814 | KCNA5 | c.1590G>C (p.Glu530Asp)
| |
12 | g.5045737G= | CA2013431365 | KCNA5 | c.1590G= (p.Glu530=)
| |
12 | g.5045737G>T | CA383466815 | KCNA5 | c.1590G>T (p.Glu530Asp)
| |
12 | g.5045738G>A | CA383466816 | KCNA5 | c.1591G>A (p.Glu531Lys)
| |
12 | g.5045738G>C | CA383466818 | KCNA5 | c.1591G>C (p.Glu531Gln)
| gnomAD v4 |
12 | g.5045738G>T | CA383466817 | KCNA5 | c.1591G>T (p.Glu531Ter)
| |
12 | g.5045739A>C | CA383466819 | KCNA5 | c.1592A>C (p.Glu531Ala)
| |
12 | g.5045739A>G | CA383466820 | KCNA5 | c.1592A>G (p.Glu531Gly)
| gnomAD v4 |
12 | g.5045739A>T | CA383466821 | KCNA5 | c.1592A>T (p.Glu531Val)
| |
12 | g.5045740G>A | CA478096197 | KCNA5 | c.1593G>A (p.Glu531=)
| |
12 | g.5045740G>C | CA383466822 | KCNA5 | c.1593G>C (p.Glu531Asp)
| |
12 | g.5045740G>T | CA383466823 | KCNA5 | c.1593G>T (p.Glu531Asp)
| |
12 | g.5045741C>A | CA383466824 | KCNA5 | c.1594C>A (p.Pro532Thr)
| |
12 | g.5045741C>G | CA383466825 | KCNA5 | c.1594C>G (p.Pro532Ala)
| |
12 | g.5045741C>T | CA383466826 | KCNA5 | c.1594C>T (p.Pro532Ser)
| |
12 | g.5045742C>A | CA383466827 | KCNA5 | c.1595C>A (p.Pro532Gln)
| |
12 | g.5045742C= | CA2013431366 | KCNA5 | c.1595C= (p.Pro532=)
| |
12 | g.5045742C>G | CA383466828 | KCNA5 | c.1595C>G (p.Pro532Arg)
| |
12 | g.5045742C>T | CA6399898 | KCNA5 | c.1595C>T (p.Pro532Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045743G>A | CA6399899 | KCNA5 | c.1596G>A (p.Pro532=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045743G>C | CA478096207 | KCNA5 | c.1596G>C (p.Pro532=)
| |
12 | g.5045743G= | CA2013431367 | KCNA5 | c.1596G= (p.Pro532=)
| |
12 | g.5045743G>T | CA478096208 | KCNA5 | c.1596G>T (p.Pro532=)
| COSMIC |
12 | g.5045744G>A | CA383466830 | KCNA5 | c.1597G>A (p.Ala533Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045744G>C | CA383466829 | KCNA5 | c.1597G>C (p.Ala533Pro)
| |
12 | g.5045744G= | CA2013431368 | KCNA5 | c.1597G= (p.Ala533=)
| |
12 | g.5045744G>T | CA6399900 | KCNA5 | c.1597G>T (p.Ala533Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045745C>A | CA383466831 | KCNA5 | c.1598C>A (p.Ala533Glu)
| COSMIC |
12 | g.5045745C= | CA2013431369 | KCNA5 | c.1598C= (p.Ala533=)
| |
12 | g.5045745C>G | CA383466832 | KCNA5 | c.1598C>G (p.Ala533Gly)
| |
12 | g.5045745C>T | CA231869127 | KCNA5 | c.1598C>T (p.Ala533Val)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045746A= | CA2013431370 | KCNA5 | c.1599A= (p.Ala533=)
| |
12 | g.5045746A>C | CA231869131 | KCNA5 | c.1599A>C (p.Ala533=)
| dbSNP |
12 | g.5045746A>G | CA478095764 | KCNA5 | c.1599A>G (p.Ala533=)
| |
12 | g.5045746A>T | CA478095763 | KCNA5 | c.1599A>T (p.Ala533=)
| |
12 | g.5045747G>A | CA383466835 | KCNA5 | c.1600G>A (p.Val534Ile)
| |
12 | g.5045747G>C | CA383466834 | KCNA5 | c.1600G>C (p.Val534Leu)
| gnomAD v4 |
12 | g.5045747G>T | CA383466833 | KCNA5 | c.1600G>T (p.Val534Phe)
| |
12 | g.5045748T>A | CA383466836 | KCNA5 | c.1601T>A (p.Val534Asp)
| |
12 | g.5045748T>C | CA6399901 | KCNA5 | c.1601T>C (p.Val534Ala)
| dbSNP ExAC gnomAD v2 |
12 | g.5045748T>G | CA383466837 | KCNA5 | c.1601T>G (p.Val534Gly)
| COSMIC |
12 | g.5045748T= | CA2013431371 | KCNA5 | c.1601T= (p.Val534=)
| |
12 | g.5045749C>A | CA478095766 | KCNA5 | c.1602C>A (p.Val534=)
| |
12 | g.5045749C>G | CA478095767 | KCNA5 | c.1602C>G (p.Val534=)
| |
12 | g.5045749C>T | CA478095768 | KCNA5 | c.1602C>T (p.Val534=)
| gnomAD v4 |
12 | g.5045750C>A | CA383466838 | KCNA5 | c.1603C>A (p.Leu535Ile)
| |
12 | g.5045750C>G | CA383466839 | KCNA5 | c.1603C>G (p.Leu535Val)
| |
12 | g.5045750C>T | CA383466840 | KCNA5 | c.1603C>T (p.Leu535Phe)
| gnomAD v4 COSMIC |
12 | g.5045751T>A | CA383466841 | KCNA5 | c.1604T>A (p.Leu535His)
| |
12 | g.5045751T>C | CA383466843 | KCNA5 | c.1604T>C (p.Leu535Pro)
| |
12 | g.5045751T>G | CA383466842 | KCNA5 | c.1604T>G (p.Leu535Arg)
| COSMIC |
12 | g.5045752T>A | CA478095769 | KCNA5 | c.1605T>A (p.Leu535=)
| |
12 | g.5045752T>C | CA478095771 | KCNA5 | c.1605T>C (p.Leu535=)
| |
12 | g.5045752T>G | CA478095770 | KCNA5 | c.1605T>G (p.Leu535=)
| |
12 | g.5045753A= | CA2013431372 | KCNA5 | c.1606A= (p.Lys536=)
| |
12 | g.5045753A>C | CA383466844 | KCNA5 | c.1606A>C (p.Lys536Gln)
| |
12 | g.5045753A>G | CA231869137 | KCNA5 | c.1606A>G (p.Lys536Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045753A>T | CA383466845 | KCNA5 | c.1606A>T (p.Lys536Ter)
| dbSNP gnomAD v4 |
12 | g.5045754A>C | CA383466846 | KCNA5 | c.1607A>C (p.Lys536Thr)
| |
12 | g.5045754A>G | CA383466847 | KCNA5 | c.1607A>G (p.Lys536Arg)
| gnomAD v4 |
12 | g.5045754A>T | CA383466848 | KCNA5 | c.1607A>T (p.Lys536Met)
| |
12 | g.5045755G>A | CA478095772 | KCNA5 | c.1608G>A (p.Lys536=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045755G>C | CA383466849 | KCNA5 | c.1608G>C (p.Lys536Asn)
| |
12 | g.5045755G= | CA2013431373 | KCNA5 | c.1608G= (p.Lys536=)
| |
12 | g.5045755G>T | CA383466850 | KCNA5 | c.1608G>T (p.Lys536Asn)
| |
12 | g.5045756G>A | CA6399902 | KCNA5 | c.1609G>A (p.Glu537Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045756G>C | CA383466851 | KCNA5 | c.1609G>C (p.Glu537Gln)
| |
12 | g.5045756G= | CA2013431374 | KCNA5 | c.1609G= (p.Glu537=)
| |
12 | g.5045756G>T | CA383466852 | KCNA5 | c.1609G>T (p.Glu537Ter)
| |
12 | g.5045757A>C | CA383466853 | KCNA5 | c.1610A>C (p.Glu537Ala)
| |
12 | g.5045757A>G | CA383466855 | KCNA5 | c.1610A>G (p.Glu537Gly)
| |
12 | g.5045757A>T | CA383466854 | KCNA5 | c.1610A>T (p.Glu537Val)
| |
12 | g.5045758A= | CA2013431375 | KCNA5 | c.1611A= (p.Glu537=)
| |
12 | g.5045758A>C | CA383466856 | KCNA5 | c.1611A>C (p.Glu537Asp)
| |
12 | g.5045758A>G | CA6399903 | KCNA5 | c.1611A>G (p.Glu537=)
| dbSNP ExAC gnomAD v2 |
12 | g.5045758A>T | CA383466857 | KCNA5 | c.1611A>T (p.Glu537Asp)
| |
12 | g.5045759G>A | CA383466858 | KCNA5 | c.1612G>A (p.Glu538Lys)
| COSMIC |
12 | g.5045759G>C | CA231869167 | KCNA5 | c.1612G>C (p.Glu538Gln)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045759G= | CA2013431376 | KCNA5 | c.1612G= (p.Glu538=)
| |
12 | g.5045759G>T | CA383466859 | KCNA5 | c.1612G>T (p.Glu538Ter)
| |
12 | g.5045760A>C | CA383466860 | KCNA5 | c.1613A>C (p.Glu538Ala)
| |
12 | g.5045760A>G | CA383466861 | KCNA5 | c.1613A>G (p.Glu538Gly)
| |
12 | g.5045760A>T | CA383466862 | KCNA5 | c.1613A>T (p.Glu538Val)
| |
12 | g.5045761G>A | CA478095777 | KCNA5 | c.1614G>A (p.Glu538=)
| COSMIC |
12 | g.5045761G>C | CA383466863 | KCNA5 | c.1614G>C (p.Glu538Asp)
| |
12 | g.5045761G>T | CA383466864 | KCNA5 | c.1614G>T (p.Glu538Asp)
| |
12 | g.5045762C>A | CA383466865 | KCNA5 | c.1615C>A (p.Gln539Lys)
| |
12 | g.5045762C>G | CA383466866 | KCNA5 | c.1615C>G (p.Gln539Glu)
| |
12 | g.5045762C>T | CA383466867 | KCNA5 | c.1615C>T (p.Gln539Ter)
| gnomAD v4 |
12 | g.5045763A>C | CA383466870 | KCNA5 | c.1616A>C (p.Gln539Pro)
| |
12 | g.5045763A>G | CA383466869 | KCNA5 | c.1616A>G (p.Gln539Arg)
| |
12 | g.5045763A>T | CA383466868 | KCNA5 | c.1616A>T (p.Gln539Leu)
| |
12 | g.5045764G>A | CA6399905 | KCNA5 | c.1617G>A (p.Gln539=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045764G>C | CA383466871 | KCNA5 | c.1617G>C (p.Gln539His)
| |
12 | g.5045764G= | CA2013431377 | KCNA5 | c.1617G= (p.Gln539=)
| |
12 | g.5045764G>T | CA383466872 | KCNA5 | c.1617G>T (p.Gln539His)
| |
12 | g.5045764_5045765insTCCTTAAGGAGCCT | CA6399904 | KCNA5 | c.1617_1618insTCCTTAAGGAGCCT (p.Gly540SerfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045765G>A | CA383466873 | KCNA5 | c.1618G>A (p.Gly540Ser)
| dbSNP gnomAD v2 |
12 | g.5045765G>C | CA383466874 | KCNA5 | c.1618G>C (p.Gly540Arg)
| |
12 | g.5045765G= | CA2013431378 | KCNA5 | c.1618G= (p.Gly540=)
| |
12 | g.5045765G>T | CA383466875 | KCNA5 | c.1618G>T (p.Gly540Cys)
| COSMIC |
12 | g.5045766G>A | CA383466876 | KCNA5 | c.1619G>A (p.Gly540Asp)
| ClinVar gnomAD v4 COSMIC |
12 | g.5045766G>C | CA383466877 | KCNA5 | c.1619G>C (p.Gly540Ala)
| gnomAD v4 |
12 | g.5045766G= | CA2013431379 | KCNA5 | c.1619G= (p.Gly540=)
| |
12 | g.5045766G>T | CA6399906 | KCNA5 | c.1619G>T (p.Gly540Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045767del | CA645578790 | KCNA5 | c.1620del (p.Thr541LeufsTer?)
| COSMIC |
12 | g.5045767C>A | CA478095782 | KCNA5 | c.1620C>A (p.Gly540=)
| gnomAD v4 |
12 | g.5045767C= | CA2013431380 | KCNA5 | c.1620C= (p.Gly540=)
| |
12 | g.5045767C>G | CA6399907 | KCNA5 | c.1620C>G (p.Gly540=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045767C>T | CA478095783 | KCNA5 | c.1620C>T (p.Gly540=)
| dbSNP gnomAD v4 |
12 | g.5045768A>C | CA383466878 | KCNA5 | c.1621A>C (p.Thr541Pro)
| |
12 | g.5045768A>G | CA383466879 | KCNA5 | c.1621A>G (p.Thr541Ala)
| |
12 | g.5045768A>T | CA383466880 | KCNA5 | c.1621A>T (p.Thr541Ser)
| |
12 | g.5045769C>A | CA383466881 | KCNA5 | c.1622C>A (p.Thr541Asn)
| |
12 | g.5045769C= | CA2013431381 | KCNA5 | c.1622C= (p.Thr541=)
| |
12 | g.5045769C>G | CA383466882 | KCNA5 | c.1622C>G (p.Thr541Ser)
| dbSNP gnomAD v4 |
12 | g.5045769C>T | CA6399908 | KCNA5 | c.1622C>T (p.Thr541Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045770T>A | CA478095784 | KCNA5 | c.1623T>A (p.Thr541=)
| |
12 | g.5045770T>C | CA478095786 | KCNA5 | c.1623T>C (p.Thr541=)
| gnomAD v4 |
12 | g.5045770T>G | CA478095785 | KCNA5 | c.1623T>G (p.Thr541=)
| |
12 | g.5045771C>A | CA383466883 | KCNA5 | c.1624C>A (p.Gln542Lys)
| COSMIC |
12 | g.5045771C>G | CA383466884 | KCNA5 | c.1624C>G (p.Gln542Glu)
| |
12 | g.5045771C>T | CA383466885 | KCNA5 | c.1624C>T (p.Gln542Ter)
| |
12 | g.5045772A>C | CA383466886 | KCNA5 | c.1625A>C (p.Gln542Pro)
| |
12 | g.5045772A>G | CA383466887 | KCNA5 | c.1625A>G (p.Gln542Arg)
| |
12 | g.5045772A>T | CA383466888 | KCNA5 | c.1625A>T (p.Gln542Leu)
| |
12 | g.5045773G>A | CA478095787 | KCNA5 | c.1626G>A (p.Gln542=)
| gnomAD v4 |
12 | g.5045773G>C | CA383466889 | KCNA5 | c.1626G>C (p.Gln542His)
| gnomAD v4 |
12 | g.5045773G= | CA2013431382 | KCNA5 | c.1626G= (p.Gln542=)
| |
12 | g.5045773G>T | CA231869181 | KCNA5 | c.1626G>T (p.Gln542His)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045774A= | CA2013431383 | KCNA5 | c.1627A= (p.Ser543=)
| |
12 | g.5045774A>C | CA383466890 | KCNA5 | c.1627A>C (p.Ser543Arg)
| |
12 | g.5045774A>G | CA383466891 | KCNA5 | c.1627A>G (p.Ser543Gly)
| dbSNP |
12 | g.5045774A>T | CA383466892 | KCNA5 | c.1627A>T (p.Ser543Cys)
| |
12 | g.5045775G>A | CA6399909 | KCNA5 | c.1628G>A (p.Ser543Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045775G>C | CA383466893 | KCNA5 | c.1628G>C (p.Ser543Thr)
| |
12 | g.5045775G= | CA2013431384 | KCNA5 | c.1628G= (p.Ser543=)
| |
12 | g.5045775G>T | CA383466894 | KCNA5 | c.1628G>T (p.Ser543Ile)
| |
12 | g.5045776C>A | CA383466895 | KCNA5 | c.1629C>A (p.Ser543Arg)
| |
12 | g.5045776C>G | CA383466896 | KCNA5 | c.1629C>G (p.Ser543Arg)
| |
12 | g.5045776C>T | CA478095788 | KCNA5 | c.1629C>T (p.Ser543=)
| |
12 | g.5045777C>A | CA383466897 | KCNA5 | c.1630C>A (p.Gln544Lys)
| |
12 | g.5045777C>G | CA383466898 | KCNA5 | c.1630C>G (p.Gln544Glu)
| |
12 | g.5045777C>T | CA383466899 | KCNA5 | c.1630C>T (p.Gln544Ter)
| |
12 | g.5045778A= | CA2013431385 | KCNA5 | c.1631A= (p.Gln544=)
| |
12 | g.5045778A>C | CA383466900 | KCNA5 | c.1631A>C (p.Gln544Pro)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045778A>G | CA383466901 | KCNA5 | c.1631A>G (p.Gln544Arg)
| gnomAD v4 COSMIC |
12 | g.5045778A>T | CA383466902 | KCNA5 | c.1631A>T (p.Gln544Leu)
| |
12 | g.5045779G>A | CA478095789 | KCNA5 | c.1632G>A (p.Gln544=)
| gnomAD v4 |
12 | g.5045779G>C | CA383466903 | KCNA5 | c.1632G>C (p.Gln544His)
| |
12 | g.5045779G>T | CA383466904 | KCNA5 | c.1632G>T (p.Gln544His)
| |
12 | g.5045780G>A | CA383466905 | KCNA5 | c.1633G>A (p.Gly545Arg)
| |
12 | g.5045780G>C | CA383466906 | KCNA5 | c.1633G>C (p.Gly545Arg)
| gnomAD v4 |
12 | g.5045780G>T | CA383466907 | KCNA5 | c.1633G>T (p.Gly545Trp)
| |
12 | g.5045781G>A | CA6399910 | KCNA5 | c.1634G>A (p.Gly545Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045781G>C | CA383466909 | KCNA5 | c.1634G>C (p.Gly545Ala)
| |
12 | g.5045781G= | CA2013431386 | KCNA5 | c.1634G= (p.Gly545=)
| |
12 | g.5045781G>T | CA383466908 | KCNA5 | c.1634G>T (p.Gly545Val)
| |
12 | g.5045782G>A | CA478095790 | KCNA5 | c.1635G>A (p.Gly545=)
| |
12 | g.5045782G>C | CA231869198 | KCNA5 | c.1635G>C (p.Gly545=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045782G= | CA2013431387 | KCNA5 | c.1635G= (p.Gly545=)
| |
12 | g.5045782G>T | CA478095791 | KCNA5 | c.1635G>T (p.Gly545=)
| |
12 | g.5045783C>A | CA383466911 | KCNA5 | c.1636C>A (p.Pro546Thr)
| dbSNP gnomAD v4 |
12 | g.5045783C= | CA2013431388 | KCNA5 | c.1636C= (p.Pro546=)
| |
12 | g.5045783C>G | CA383466910 | KCNA5 | c.1636C>G (p.Pro546Ala)
| gnomAD v4 |
12 | g.5045783C>T | CA6399911 | KCNA5 | c.1636C>T (p.Pro546Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045784C>A | CA383466912 | KCNA5 | c.1637C>A (p.Pro546Gln)
| dbSNP gnomAD v4 |
12 | g.5045784C= | CA2013431389 | KCNA5 | c.1637C= (p.Pro546=)
| |
12 | g.5045784C>G | CA383466913 | KCNA5 | c.1637C>G (p.Pro546Arg)
| |
12 | g.5045784C>T | CA231869210 | KCNA5 | c.1637C>T (p.Pro546Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045785G>A | CA231869219 | KCNA5 | c.1638G>A (p.Pro546=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045785G>C | CA478095792 | KCNA5 | c.1638G>C (p.Pro546=)
| |
12 | g.5045785G= | CA2013431390 | KCNA5 | c.1638G= (p.Pro546=)
| |
12 | g.5045785G>T | CA478095793 | KCNA5 | c.1638G>T (p.Pro546=)
| |
12 | g.5045786G>A | CA383466914 | KCNA5 | c.1639G>A (p.Gly547Arg)
| gnomAD v4 |
12 | g.5045786G>C | CA383466915 | KCNA5 | c.1639G>C (p.Gly547Arg)
| |
12 | g.5045786G>T | CA383466916 | KCNA5 | c.1639G>T (p.Gly547Trp)
| |
12 | g.5045787G>A | CA383466917 | KCNA5 | c.1640G>A (p.Gly547Glu)
| dbSNP gnomAD v4 |
12 | g.5045787G>C | CA383466918 | KCNA5 | c.1640G>C (p.Gly547Ala)
| |
12 | g.5045787G= | CA2013431391 | KCNA5 | c.1640G= (p.Gly547=)
| |
12 | g.5045787G>T | CA383466919 | KCNA5 | c.1640G>T (p.Gly547Val)
| |
12 | g.5045788G>A | CA478095795 | KCNA5 | c.1641G>A (p.Gly547=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045788G>C | CA478095796 | KCNA5 | c.1641G>C (p.Gly547=)
| |
12 | g.5045788G= | CA2013431392 | KCNA5 | c.1641G= (p.Gly547=)
| |
12 | g.5045788G>T | CA478095797 | KCNA5 | c.1641G>T (p.Gly547=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045789C>A | CA383466920 | KCNA5 | c.1642C>A (p.Leu548Met)
| |
12 | g.5045789C>G | CA383466921 | KCNA5 | c.1642C>G (p.Leu548Val)
| gnomAD v4 |
12 | g.5045789C>T | CA478095799 | KCNA5 | c.1642C>T (p.Leu548=)
| |
12 | g.5045790T>A | CA383466922 | KCNA5 | c.1643T>A (p.Leu548Gln)
| |
12 | g.5045790T>C | CA6399912 | KCNA5 | c.1643T>C (p.Leu548Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045790T>G | CA383466923 | KCNA5 | c.1643T>G (p.Leu548Arg)
| gnomAD v4 |
12 | g.5045790T= | CA2013431393 | KCNA5 | c.1643T= (p.Leu548=)
| |
12 | g.5045791G>A | CA231869235 | KCNA5 | c.1644G>A (p.Leu548=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045791G>C | CA478095800 | KCNA5 | c.1644G>C (p.Leu548=)
| |
12 | g.5045791G= | CA2013431394 | KCNA5 | c.1644G= (p.Leu548=)
| |
12 | g.5045791G>T | CA478095802 | KCNA5 | c.1644G>T (p.Leu548=)
| |
12 | g.5045792G>A | CA383466924 | KCNA5 | c.1645G>A (p.Asp549Asn)
| dbSNP COSMIC |
12 | g.5045792G>C | CA383466925 | KCNA5 | c.1645G>C (p.Asp549His)
| |
12 | g.5045792G= | CA2013431395 | KCNA5 | c.1645G= (p.Asp549=)
| |
12 | g.5045792G>T | CA383466926 | KCNA5 | c.1645G>T (p.Asp549Tyr)
| |
12 | g.5045793A>C | CA383466927 | KCNA5 | c.1646A>C (p.Asp549Ala)
| |
12 | g.5045793A>G | CA383466928 | KCNA5 | c.1646A>G (p.Asp549Gly)
| |
12 | g.5045793A>T | CA383466929 | KCNA5 | c.1646A>T (p.Asp549Val)
| |