12 | g.5044804C>A | CA383464883 | KCNA5 | c.657C>A (p.Phe219Leu)
| |
12 | g.5044804C= | CA2013430887 | KCNA5 | c.657C= (p.Phe219=)
| |
12 | g.5044804C>G | CA383464882 | KCNA5 | c.657C>G (p.Phe219Leu)
| |
12 | g.5044804C>T | CA478095165 | KCNA5 | c.657C>T (p.Phe219=)
| dbSNP |
12 | g.5044805A= | CA2013430888 | KCNA5 | c.658A= (p.Ile220=)
| |
12 | g.5044805A>C | CA383464884 | KCNA5 | c.658A>C (p.Ile220Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044805A>G | CA383464886 | KCNA5 | c.658A>G (p.Ile220Val)
| |
12 | g.5044805A>T | CA383464885 | KCNA5 | c.658A>T (p.Ile220Phe)
| |
12 | g.5044806T>A | CA383464887 | KCNA5 | c.659T>A (p.Ile220Asn)
| |
12 | g.5044806T>C | CA383464888 | KCNA5 | c.659T>C (p.Ile220Thr)
| |
12 | g.5044806T>G | CA383464889 | KCNA5 | c.659T>G (p.Ile220Ser)
| |
12 | g.5044807T>A | CA478095168 | KCNA5 | c.660T>A (p.Ile220=)
| |
12 | g.5044807T>C | CA478095166 | KCNA5 | c.660T>C (p.Ile220=)
| dbSNP gnomAD v4 |
12 | g.5044807T>G | CA383464890 | KCNA5 | c.660T>G (p.Ile220Met)
| |
12 | g.5044807T= | CA2013430889 | KCNA5 | c.660T= (p.Ile220=)
| |
12 | g.5044808A>C | CA383464891 | KCNA5 | c.661A>C (p.Lys221Gln)
| |
12 | g.5044808A>G | CA383464892 | KCNA5 | c.661A>G (p.Lys221Glu)
| |
12 | g.5044808A>T | CA383464893 | KCNA5 | c.661A>T (p.Lys221Ter)
| |
12 | g.5044809A= | CA2013430890 | KCNA5 | c.662A= (p.Lys221=)
| |
12 | g.5044809A>C | CA383464894 | KCNA5 | c.662A>C (p.Lys221Thr)
| |
12 | g.5044809A>G | CA231867640 | KCNA5 | c.662A>G (p.Lys221Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044809A>T | CA383464895 | KCNA5 | c.662A>T (p.Lys221Ile)
| |
12 | g.5044813_5044815del | CA2617209903 | KCNA5 | c.666_668del (p.Glu223del)
| gnomAD v4 |
12 | g.5044810A>C | CA383464896 | KCNA5 | c.663A>C (p.Lys221Asn)
| |
12 | g.5044810A>G | CA478095169 | KCNA5 | c.663A>G (p.Lys221=)
| |
12 | g.5044810A>T | CA383464897 | KCNA5 | c.663A>T (p.Lys221Asn)
| |
12 | g.5044811G>A | CA383464900 | KCNA5 | c.664G>A (p.Glu222Lys)
| gnomAD v4 |
12 | g.5044811G>C | CA383464898 | KCNA5 | c.664G>C (p.Glu222Gln)
| |
12 | g.5044811G>T | CA383464899 | KCNA5 | c.664G>T (p.Glu222Ter)
| |
12 | g.5044812A>C | CA383464901 | KCNA5 | c.665A>C (p.Glu222Ala)
| |
12 | g.5044812A>G | CA383464902 | KCNA5 | c.665A>G (p.Glu222Gly)
| |
12 | g.5044812A>T | CA383464903 | KCNA5 | c.665A>T (p.Glu222Val)
| |
12 | g.5044813A>C | CA383464904 | KCNA5 | c.666A>C (p.Glu222Asp)
| gnomAD v4 |
12 | g.5044813A>G | CA478095172 | KCNA5 | c.666A>G (p.Glu222=)
| |
12 | g.5044813A>T | CA383464905 | KCNA5 | c.666A>T (p.Glu222Asp)
| |
12 | g.5044813_5044814delinsAG | CA2013430892 | KCNA5 | c.666_667delinsAG (p.Glu222=)
| |
12 | g.5044813_5044816delinsAGAG | CA2013430891 | KCNA5 | c.666_669delinsAGAG (p.Glu222=)
| |
12 | g.5044814del | CA2013430893 | KCNA5 | c.667del (p.Glu223ArgfsTer?)
| dbSNP gnomAD v4 |
12 | g.5044814G>A | CA6399690 | KCNA5 | c.667G>A (p.Glu223Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044814G>C | CA383464906 | KCNA5 | c.667G>C (p.Glu223Gln)
| gnomAD v4 |
12 | g.5044814G= | CA2013430894 | KCNA5 | c.667G= (p.Glu223=)
| |
12 | g.5044814G>T | CA383464907 | KCNA5 | c.667G>T (p.Glu223Ter)
| |
12 | g.5044817_5044819del | CA6399689 | KCNA5 | c.670_672del (p.Glu224del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044815A>C | CA383464908 | KCNA5 | c.668A>C (p.Glu223Ala)
| |
12 | g.5044815A>G | CA383464909 | KCNA5 | c.668A>G (p.Glu223Gly)
| |
12 | g.5044815A>T | CA383464910 | KCNA5 | c.668A>T (p.Glu223Val)
| COSMIC |
12 | g.5044815_5044816delinsAG | CA2013430895 | KCNA5 | c.668_669delinsAG (p.Glu223=)
| |
12 | g.5044816G>A | CA478095173 | KCNA5 | c.669G>A (p.Glu223=)
| |
12 | g.5044816G>C | CA383464912 | KCNA5 | c.669G>C (p.Glu223Asp)
| dbSNP |
12 | g.5044816G= | CA2013430896 | KCNA5 | c.669G= (p.Glu223=)
| |
12 | g.5044816G>T | CA383464911 | KCNA5 | c.669G>T (p.Glu223Asp)
| |
12 | g.5044817del | CA1139662474 | KCNA5 | c.670del (p.Glu224ArgfsTer?)
| ClinVar dbSNP |
12 | g.5044817G>A | CA383464913 | KCNA5 | c.670G>A (p.Glu224Lys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044817G>C | CA383464915 | KCNA5 | c.670G>C (p.Glu224Gln)
| |
12 | g.5044817G= | CA2013430897 | KCNA5 | c.670G= (p.Glu224=)
| |
12 | g.5044817G>T | CA383464914 | KCNA5 | c.670G>T (p.Glu224Ter)
| |
12 | g.5044818A>C | CA383464916 | KCNA5 | c.671A>C (p.Glu224Ala)
| |
12 | g.5044818A>G | CA383464917 | KCNA5 | c.671A>G (p.Glu224Gly)
| |
12 | g.5044818A>T | CA383464918 | KCNA5 | c.671A>T (p.Glu224Val)
| |
12 | g.5044819G>A | CA478095177 | KCNA5 | c.672G>A (p.Glu224=)
| gnomAD v4 |
12 | g.5044819G>C | CA383464919 | KCNA5 | c.672G>C (p.Glu224Asp)
| dbSNP |
12 | g.5044819G>T | CA383464920 | KCNA5 | c.672G>T (p.Glu224Asp)
| |
12 | g.5044820A>C | CA383464921 | KCNA5 | c.673A>C (p.Lys225Gln)
| |
12 | g.5044820A>G | CA383464922 | KCNA5 | c.673A>G (p.Lys225Glu)
| |
12 | g.5044820A>T | CA383464923 | KCNA5 | c.673A>T (p.Lys225Ter)
| gnomAD v4 |
12 | g.5044821A>C | CA383464924 | KCNA5 | c.674A>C (p.Lys225Thr)
| |
12 | g.5044821A>G | CA383464925 | KCNA5 | c.674A>G (p.Lys225Arg)
| gnomAD v4 |
12 | g.5044821A>T | CA383464926 | KCNA5 | c.674A>T (p.Lys225Met)
| |
12 | g.5044822G>A | CA6399691 | KCNA5 | c.675G>A (p.Lys225=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044822G>C | CA383464928 | KCNA5 | c.675G>C (p.Lys225Asn)
| |
12 | g.5044822G= | CA2013430898 | KCNA5 | c.675G= (p.Lys225=)
| |
12 | g.5044822G>T | CA383464927 | KCNA5 | c.675G>T (p.Lys225Asn)
| |
12 | g.5044823C>A | CA383464929 | KCNA5 | c.676C>A (p.Pro226Thr)
| |
12 | g.5044823C= | CA2013430899 | KCNA5 | c.676C= (p.Pro226=)
| |
12 | g.5044823C>G | CA383464930 | KCNA5 | c.676C>G (p.Pro226Ala)
| |
12 | g.5044823C>T | CA383464931 | KCNA5 | c.676C>T (p.Pro226Ser)
| gnomAD v4 |
12 | g.5044824C>A | CA383464932 | KCNA5 | c.677C>A (p.Pro226His)
| gnomAD v4 |
12 | g.5044824C>G | CA383464933 | KCNA5 | c.677C>G (p.Pro226Arg)
| |
12 | g.5044824C>T | CA383464934 | KCNA5 | c.677C>T (p.Pro226Leu)
| gnomAD v4 |
12 | g.5044824_5044827dup | CA603482588 | KCNA5 | c.677_680dup (p.Arg229AlafsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044825C>A | CA6399692 | KCNA5 | c.678C>A (p.Pro226=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044825C= | CA2013430900 | KCNA5 | c.678C= (p.Pro226=)
| |
12 | g.5044825C>G | CA478095180 | KCNA5 | c.678C>G (p.Pro226=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044825C>T | CA478095179 | KCNA5 | c.678C>T (p.Pro226=)
| gnomAD v4 |
12 | g.5044826C>A | CA383464935 | KCNA5 | c.679C>A (p.Leu227Met)
| |
12 | g.5044826C= | CA2013430901 | KCNA5 | c.679C= (p.Leu227=)
| |
12 | g.5044826C>G | CA383464936 | KCNA5 | c.679C>G (p.Leu227Val)
| |
12 | g.5044826C>T | CA478095182 | KCNA5 | c.679C>T (p.Leu227=)
| dbSNP |
12 | g.5044827T>A | CA383464937 | KCNA5 | c.680T>A (p.Leu227Gln)
| |
12 | g.5044827T>C | CA383464938 | KCNA5 | c.680T>C (p.Leu227Pro)
| |
12 | g.5044827T>G | CA383464939 | KCNA5 | c.680T>G (p.Leu227Arg)
| |
12 | g.5044828G>A | CA6399693 | KCNA5 | c.681G>A (p.Leu227=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044828G>C | CA478095184 | KCNA5 | c.681G>C (p.Leu227=)
| |
12 | g.5044828G= | CA2013430902 | KCNA5 | c.681G= (p.Leu227=)
| |
12 | g.5044828G>T | CA478095185 | KCNA5 | c.681G>T (p.Leu227=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044829C>A | CA6399694 | KCNA5 | c.682C>A (p.Pro228Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044829C= | CA2013430903 | KCNA5 | c.682C= (p.Pro228=)
| |
12 | g.5044829C>G | CA383464940 | KCNA5 | c.682C>G (p.Pro228Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044829C>T | CA231867649 | KCNA5 | c.682C>T (p.Pro228Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044830C>A | CA383464941 | KCNA5 | c.683C>A (p.Pro228His)
| ClinVar dbSNP |
12 | g.5044830C= | CA2013430904 | KCNA5 | c.683C= (p.Pro228=)
| |
12 | g.5044830C>G | CA383464943 | KCNA5 | c.683C>G (p.Pro228Arg)
| |
12 | g.5044830C>T | CA383464942 | KCNA5 | c.683C>T (p.Pro228Leu)
| |
12 | g.5044831C>A | CA478095186 | KCNA5 | c.684C>A (p.Pro228=)
| |
12 | g.5044831C>G | CA478095188 | KCNA5 | c.684C>G (p.Pro228=)
| |
12 | g.5044831C>T | CA478095187 | KCNA5 | c.684C>T (p.Pro228=)
| |
12 | g.5044832C>A | CA383464944 | KCNA5 | c.685C>A (p.Arg229Ser)
| |
12 | g.5044832C= | CA2013430905 | KCNA5 | c.685C= (p.Arg229=)
| |
12 | g.5044832C>G | CA383464946 | KCNA5 | c.685C>G (p.Arg229Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044832C>T | CA383464945 | KCNA5 | c.685C>T (p.Arg229Cys)
| dbSNP gnomAD v4 |
12 | g.5044833G>A | CA6399695 | KCNA5 | c.686G>A (p.Arg229His)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5044833G>C | CA383464948 | KCNA5 | c.686G>C (p.Arg229Pro)
| |
12 | g.5044833G= | CA2013430906 | KCNA5 | c.686G= (p.Arg229=)
| |
12 | g.5044833G>T | CA383464947 | KCNA5 | c.686G>T (p.Arg229Leu)
| dbSNP |
12 | g.5044834C>A | CA478095190 | KCNA5 | c.687C>A (p.Arg229=)
| gnomAD v4 |
12 | g.5044834C>G | CA478095191 | KCNA5 | c.687C>G (p.Arg229=)
| gnomAD v4 |
12 | g.5044834C>T | CA478095192 | KCNA5 | c.687C>T (p.Arg229=)
| |
12 | g.5044835A= | CA2013430907 | KCNA5 | c.688A= (p.Asn230=)
| |
12 | g.5044835A>C | CA383464949 | KCNA5 | c.688A>C (p.Asn230His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044835A>G | CA383464951 | KCNA5 | c.688A>G (p.Asn230Asp)
| |
12 | g.5044835A>T | CA383464950 | KCNA5 | c.688A>T (p.Asn230Tyr)
| |
12 | g.5044836A= | CA2013430908 | KCNA5 | c.689A= (p.Asn230=)
| |
12 | g.5044836A>C | CA383464952 | KCNA5 | c.689A>C (p.Asn230Thr)
| |
12 | g.5044836A>G | CA383464954 | KCNA5 | c.689A>G (p.Asn230Ser)
| ClinVar dbSNP |
12 | g.5044836A>T | CA383464953 | KCNA5 | c.689A>T (p.Asn230Ile)
| |
12 | g.5044837C>A | CA383464955 | KCNA5 | c.690C>A (p.Asn230Lys)
| gnomAD v4 |
12 | g.5044837C= | CA2013430909 | KCNA5 | c.690C= (p.Asn230=)
| |
12 | g.5044837C>G | CA6399696 | KCNA5 | c.690C>G (p.Asn230Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044837C>T | CA478095194 | KCNA5 | c.690C>T (p.Asn230=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044838G>A | CA383464956 | KCNA5 | c.691G>A (p.Glu231Lys)
| dbSNP gnomAD v4 |
12 | g.5044838G>C | CA383464958 | KCNA5 | c.691G>C (p.Glu231Gln)
| gnomAD v4 |
12 | g.5044838G= | CA2013430910 | KCNA5 | c.691G= (p.Glu231=)
| |
12 | g.5044838G>T | CA383464957 | KCNA5 | c.691G>T (p.Glu231Ter)
| |
12 | g.5044839A>C | CA383464959 | KCNA5 | c.692A>C (p.Glu231Ala)
| |
12 | g.5044839A>G | CA383464961 | KCNA5 | c.692A>G (p.Glu231Gly)
| |
12 | g.5044839A>T | CA383464960 | KCNA5 | c.692A>T (p.Glu231Val)
| gnomAD v4 |
12 | g.5044840G>A | CA478095195 | KCNA5 | c.693G>A (p.Glu231=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044840G>C | CA383464962 | KCNA5 | c.693G>C (p.Glu231Asp)
| |
12 | g.5044840G= | CA2013430911 | KCNA5 | c.693G= (p.Glu231=)
| |
12 | g.5044840G>T | CA6399697 | KCNA5 | c.693G>T (p.Glu231Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044841T>A | CA383464963 | KCNA5 | c.694T>A (p.Phe232Ile)
| |
12 | g.5044841T>C | CA383464964 | KCNA5 | c.694T>C (p.Phe232Leu)
| |
12 | g.5044841T>G | CA383464965 | KCNA5 | c.694T>G (p.Phe232Val)
| |
12 | g.5044842T>A | CA383464966 | KCNA5 | c.695T>A (p.Phe232Tyr)
| |
12 | g.5044842T>C | CA383464967 | KCNA5 | c.695T>C (p.Phe232Ser)
| |
12 | g.5044842T>G | CA383464968 | KCNA5 | c.695T>G (p.Phe232Cys)
| |
12 | g.5044843C>A | CA383464969 | KCNA5 | c.696C>A (p.Phe232Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044843C= | CA2013430912 | KCNA5 | c.696C= (p.Phe232=)
| |
12 | g.5044843C>G | CA383464970 | KCNA5 | c.696C>G (p.Phe232Leu)
| |
12 | g.5044843C>T | CA478095198 | KCNA5 | c.696C>T (p.Phe232=)
| |
12 | g.5044844C>A | CA383464973 | KCNA5 | c.697C>A (p.Gln233Lys)
| |
12 | g.5044844C>G | CA383464972 | KCNA5 | c.697C>G (p.Gln233Glu)
| |
12 | g.5044844C>T | CA383464971 | KCNA5 | c.697C>T (p.Gln233Ter)
| |
12 | g.5044845A>C | CA383464974 | KCNA5 | c.698A>C (p.Gln233Pro)
| |
12 | g.5044845A>G | CA383464975 | KCNA5 | c.698A>G (p.Gln233Arg)
| |
12 | g.5044845A>T | CA383464976 | KCNA5 | c.698A>T (p.Gln233Leu)
| |
12 | g.5044846G>A | CA478095200 | KCNA5 | c.699G>A (p.Gln233=)
| |
12 | g.5044846G>C | CA383464977 | KCNA5 | c.699G>C (p.Gln233His)
| |
12 | g.5044846G>T | CA383464978 | KCNA5 | c.699G>T (p.Gln233His)
| |
12 | g.5044847C>A | CA231867672 | KCNA5 | c.700C>A (p.Arg234Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044847C= | CA2013430913 | KCNA5 | c.700C= (p.Arg234=)
| |
12 | g.5044847C>G | CA383464979 | KCNA5 | c.700C>G (p.Arg234Gly)
| COSMIC |
12 | g.5044847C>T | CA6399698 | KCNA5 | c.700C>T (p.Arg234Cys)
| dbSNP ExAC gnomAD v2 COSMIC |
12 | g.5044848G>A | CA383464980 | KCNA5 | c.701G>A (p.Arg234His)
| COSMIC |
12 | g.5044848G>C | CA383464981 | KCNA5 | c.701G>C (p.Arg234Pro)
| |
12 | g.5044848G= | CA2013430914 | KCNA5 | c.701G= (p.Arg234=)
| |
12 | g.5044848G>T | CA236717 | KCNA5 | c.701G>T (p.Arg234Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044849C>A | CA478095295 | KCNA5 | c.702C>A (p.Arg234=)
| |
12 | g.5044849C>G | CA478095296 | KCNA5 | c.702C>G (p.Arg234=)
| |
12 | g.5044849C>T | CA478095294 | KCNA5 | c.702C>T (p.Arg234=)
| gnomAD v4 |
12 | g.5044850C>A | CA383464983 | KCNA5 | c.703C>A (p.Gln235Lys)
| |
12 | g.5044850C= | CA2013430915 | KCNA5 | c.703C= (p.Gln235=)
| |
12 | g.5044850C>G | CA383464982 | KCNA5 | c.703C>G (p.Gln235Glu)
| |
12 | g.5044850C>T | CA231867679 | KCNA5 | c.703C>T (p.Gln235Ter)
| dbSNP |
12 | g.5044851A= | CA2013430916 | KCNA5 | c.704A= (p.Gln235=)
| |
12 | g.5044851A>C | CA383464984 | KCNA5 | c.704A>C (p.Gln235Pro)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044851A>G | CA383464985 | KCNA5 | c.704A>G (p.Gln235Arg)
| dbSNP |
12 | g.5044851A>T | CA383464986 | KCNA5 | c.704A>T (p.Gln235Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044852G>A | CA478095300 | KCNA5 | c.705G>A (p.Gln235=)
| |
12 | g.5044852G>C | CA383464987 | KCNA5 | c.705G>C (p.Gln235His)
| |
12 | g.5044852G= | CA2013430917 | KCNA5 | c.705G= (p.Gln235=)
| |
12 | g.5044852G>T | CA6399699 | KCNA5 | c.705G>T (p.Gln235His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044853G>A | CA6399700 | KCNA5 | c.706G>A (p.Val236Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044853G>C | CA383464988 | KCNA5 | c.706G>C (p.Val236Leu)
| gnomAD v4 |
12 | g.5044853G= | CA2013430918 | KCNA5 | c.706G= (p.Val236=)
| |
12 | g.5044853G>T | CA383464989 | KCNA5 | c.706G>T (p.Val236Leu)
| gnomAD v4 |
12 | g.5044854T>A | CA383464990 | KCNA5 | c.707T>A (p.Val236Glu)
| |
12 | g.5044854T>C | CA383464991 | KCNA5 | c.707T>C (p.Val236Ala)
| gnomAD v4 |
12 | g.5044854T>G | CA383464992 | KCNA5 | c.707T>G (p.Val236Gly)
| |
12 | g.5044855G>A | CA478095304 | KCNA5 | c.708G>A (p.Val236=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044855G>C | CA478095305 | KCNA5 | c.708G>C (p.Val236=)
| |
12 | g.5044855G= | CA2013430919 | KCNA5 | c.708G= (p.Val236=)
| |
12 | g.5044855G>T | CA478095306 | KCNA5 | c.708G>T (p.Val236=)
| |
12 | g.5044856T>A | CA383464995 | KCNA5 | c.709T>A (p.Trp237Arg)
| |
12 | g.5044856T>C | CA383464994 | KCNA5 | c.709T>C (p.Trp237Arg)
| dbSNP gnomAD v2 |
12 | g.5044856T>G | CA383464993 | KCNA5 | c.709T>G (p.Trp237Gly)
| |
12 | g.5044856T= | CA2013430920 | KCNA5 | c.709T= (p.Trp237=)
| |
12 | g.5044857G>A | CA383464996 | KCNA5 | c.710G>A (p.Trp237Ter)
| gnomAD v4 |
12 | g.5044857G>C | CA383464997 | KCNA5 | c.710G>C (p.Trp237Ser)
| |
12 | g.5044857G>T | CA383464998 | KCNA5 | c.710G>T (p.Trp237Leu)
| |
12 | g.5044858G>A | CA383464999 | KCNA5 | c.711G>A (p.Trp237Ter)
| |
12 | g.5044858G>C | CA383465000 | KCNA5 | c.711G>C (p.Trp237Cys)
| |
12 | g.5044858G>T | CA383465001 | KCNA5 | c.711G>T (p.Trp237Cys)
| |
12 | g.5044859C>A | CA383465002 | KCNA5 | c.712C>A (p.Leu238Ile)
| |
12 | g.5044859C= | CA2013430921 | KCNA5 | c.712C= (p.Leu238=)
| |
12 | g.5044859C>G | CA383465003 | KCNA5 | c.712C>G (p.Leu238Val)
| |
12 | g.5044859C>T | CA6399701 | KCNA5 | c.712C>T (p.Leu238Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044860T>A | CA383465004 | KCNA5 | c.713T>A (p.Leu238His)
| |
12 | g.5044860T>C | CA383465005 | KCNA5 | c.713T>C (p.Leu238Pro)
| |
12 | g.5044860T>G | CA383465006 | KCNA5 | c.713T>G (p.Leu238Arg)
| |
12 | g.5044861T>A | CA478095312 | KCNA5 | c.714T>A (p.Leu238=)
| |
12 | g.5044861T>C | CA478095313 | KCNA5 | c.714T>C (p.Leu238=)
| |
12 | g.5044861T>G | CA231867712 | KCNA5 | c.714T>G (p.Leu238=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044861T= | CA2013430922 | KCNA5 | c.714T= (p.Leu238=)
| |
12 | g.5044862A>C | CA383465008 | KCNA5 | c.715A>C (p.Ile239Leu)
| |
12 | g.5044862A>G | CA383465007 | KCNA5 | c.715A>G (p.Ile239Val)
| |
12 | g.5044862A>T | CA383465009 | KCNA5 | c.715A>T (p.Ile239Phe)
| |
12 | g.5044863T>A | CA383465010 | KCNA5 | c.716T>A (p.Ile239Asn)
| |
12 | g.5044863T>C | CA383465011 | KCNA5 | c.716T>C (p.Ile239Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044863T>G | CA383465012 | KCNA5 | c.716T>G (p.Ile239Ser)
| |
12 | g.5044863T= | CA2013430923 | KCNA5 | c.716T= (p.Ile239=)
| |
12 | g.5044864C>A | CA478095316 | KCNA5 | c.717C>A (p.Ile239=)
| COSMIC |
12 | g.5044864C= | CA2013430924 | KCNA5 | c.717C= (p.Ile239=)
| |
12 | g.5044864C>G | CA383465013 | KCNA5 | c.717C>G (p.Ile239Met)
| |
12 | g.5044864C>T | CA6399702 | KCNA5 | c.717C>T (p.Ile239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044865T>A | CA383465014 | KCNA5 | c.718T>A (p.Phe240Ile)
| |
12 | g.5044865T>C | CA383465015 | KCNA5 | c.718T>C (p.Phe240Leu)
| |
12 | g.5044865T>G | CA383465016 | KCNA5 | c.718T>G (p.Phe240Val)
| |
12 | g.5044866T>A | CA383465017 | KCNA5 | c.719T>A (p.Phe240Tyr)
| gnomAD v4 |
12 | g.5044866T>C | CA383465018 | KCNA5 | c.719T>C (p.Phe240Ser)
| |
12 | g.5044866T>G | CA6399703 | KCNA5 | c.719T>G (p.Phe240Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044866T= | CA2013430925 | KCNA5 | c.719T= (p.Phe240=)
| |
12 | g.5044867C>A | CA383465019 | KCNA5 | c.720C>A (p.Phe240Leu)
| |
12 | g.5044867C= | CA2013430926 | KCNA5 | c.720C= (p.Phe240=)
| |
12 | g.5044867C>G | CA383465020 | KCNA5 | c.720C>G (p.Phe240Leu)
| dbSNP |
12 | g.5044867C>T | CA478095320 | KCNA5 | c.720C>T (p.Phe240=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044868G>A | CA383465021 | KCNA5 | c.721G>A (p.Glu241Lys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044868G>C | CA383465023 | KCNA5 | c.721G>C (p.Glu241Gln)
| |
12 | g.5044868G= | CA2013430927 | KCNA5 | c.721G= (p.Glu241=)
| |
12 | g.5044868G>T | CA383465022 | KCNA5 | c.721G>T (p.Glu241Ter)
| |
12 | g.5044869A= | CA2013430928 | KCNA5 | c.722A= (p.Glu241=)
| |
12 | g.5044869A>C | CA383465024 | KCNA5 | c.722A>C (p.Glu241Ala)
| |
12 | g.5044869A>G | CA383465025 | KCNA5 | c.722A>G (p.Glu241Gly)
| |
12 | g.5044869A>T | CA383465026 | KCNA5 | c.722A>T (p.Glu241Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044870G>A | CA478095323 | KCNA5 | c.723G>A (p.Glu241=)
| |
12 | g.5044870G>C | CA383465027 | KCNA5 | c.723G>C (p.Glu241Asp)
| |
12 | g.5044870G>T | CA383465028 | KCNA5 | c.723G>T (p.Glu241Asp)
| |
12 | g.5044871T>A | CA383465029 | KCNA5 | c.724T>A (p.Tyr242Asn)
| |
12 | g.5044871T>C | CA383465030 | KCNA5 | c.724T>C (p.Tyr242His)
| |
12 | g.5044871T>G | CA383465031 | KCNA5 | c.724T>G (p.Tyr242Asp)
| gnomAD v4 |
12 | g.5044872A>C | CA383465032 | KCNA5 | c.725A>C (p.Tyr242Ser)
| |
12 | g.5044872A>G | CA383465033 | KCNA5 | c.725A>G (p.Tyr242Cys)
| |
12 | g.5044872A>T | CA383465034 | KCNA5 | c.725A>T (p.Tyr242Phe)
| |
12 | g.5044873T>A | CA383465035 | KCNA5 | c.726T>A (p.Tyr242Ter)
| |
12 | g.5044873T>C | CA478095326 | KCNA5 | c.726T>C (p.Tyr242=)
| |
12 | g.5044873T>G | CA383465036 | KCNA5 | c.726T>G (p.Tyr242Ter)
| |
12 | g.5044874C>A | CA383465037 | KCNA5 | c.727C>A (p.Pro243Thr)
| |
12 | g.5044874C= | CA2013430929 | KCNA5 | c.727C= (p.Pro243=)
| |
12 | g.5044874C>G | CA231867718 | KCNA5 | c.727C>G (p.Pro243Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044874C>T | CA383465038 | KCNA5 | c.727C>T (p.Pro243Ser)
| gnomAD v4 COSMIC |
12 | g.5044875C>A | CA383465039 | KCNA5 | c.728C>A (p.Pro243Gln)
| |
12 | g.5044875C= | CA2013430930 | KCNA5 | c.728C= (p.Pro243=)
| |
12 | g.5044875C>G | CA383465040 | KCNA5 | c.728C>G (p.Pro243Arg)
| |
12 | g.5044875C>T | CA6399704 | KCNA5 | c.728C>T (p.Pro243Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044876G>A | CA6399705 | KCNA5 | c.729G>A (p.Pro243=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044876G>C | CA478095331 | KCNA5 | c.729G>C (p.Pro243=)
| gnomAD v4 |
12 | g.5044876G= | CA2013430931 | KCNA5 | c.729G= (p.Pro243=)
| |
12 | g.5044876G>T | CA478095332 | KCNA5 | c.729G>T (p.Pro243=)
| |
12 | g.5044877G>A | CA383465041 | KCNA5 | c.730G>A (p.Glu244Lys)
| |
12 | g.5044877G>C | CA383465042 | KCNA5 | c.730G>C (p.Glu244Gln)
| dbSNP gnomAD v4 |
12 | g.5044877G= | CA2013430932 | KCNA5 | c.730G= (p.Glu244=)
| |
12 | g.5044877G>T | CA383465043 | KCNA5 | c.730G>T (p.Glu244Ter)
| |
12 | g.5044878A>C | CA383465044 | KCNA5 | c.731A>C (p.Glu244Ala)
| |
12 | g.5044878A>G | CA383465045 | KCNA5 | c.731A>G (p.Glu244Gly)
| |
12 | g.5044878A>T | CA383465046 | KCNA5 | c.731A>T (p.Glu244Val)
| |
12 | g.5044879G>A | CA478095334 | KCNA5 | c.732G>A (p.Glu244=)
| |
12 | g.5044879G>C | CA383465047 | KCNA5 | c.732G>C (p.Glu244Asp)
| |
12 | g.5044879G>T | CA383465048 | KCNA5 | c.732G>T (p.Glu244Asp)
| |
12 | g.5044880A= | CA2013430933 | KCNA5 | c.733A= (p.Ser245=)
| |
12 | g.5044880A>C | CA383465049 | KCNA5 | c.733A>C (p.Ser245Arg)
| |
12 | g.5044880A>G | CA6399706 | KCNA5 | c.733A>G (p.Ser245Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044880A>T | CA383465050 | KCNA5 | c.733A>T (p.Ser245Cys)
| |
12 | g.5044881G>A | CA383465051 | KCNA5 | c.734G>A (p.Ser245Asn)
| |
12 | g.5044881G>C | CA383465052 | KCNA5 | c.734G>C (p.Ser245Thr)
| |
12 | g.5044881G>T | CA383465053 | KCNA5 | c.734G>T (p.Ser245Ile)
| |
12 | g.5044882C>A | CA383465054 | KCNA5 | c.735C>A (p.Ser245Arg)
| |
12 | g.5044882C= | CA2013430934 | KCNA5 | c.735C= (p.Ser245=)
| |
12 | g.5044882C>G | CA383465055 | KCNA5 | c.735C>G (p.Ser245Arg)
| |
12 | g.5044882C>T | CA6399707 | KCNA5 | c.735C>T (p.Ser245=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044883T>A | CA383465056 | KCNA5 | c.736T>A (p.Ser246Thr)
| |
12 | g.5044883T>C | CA383465057 | KCNA5 | c.736T>C (p.Ser246Pro)
| COSMIC |
12 | g.5044883T>G | CA383465058 | KCNA5 | c.736T>G (p.Ser246Ala)
| |
12 | g.5044884C>A | CA383465060 | KCNA5 | c.737C>A (p.Ser246Tyr)
| |
12 | g.5044884C>G | CA383465061 | KCNA5 | c.737C>G (p.Ser246Cys)
| |
12 | g.5044884C>T | CA383465059 | KCNA5 | c.737C>T (p.Ser246Phe)
| |
12 | g.5044885T>A | CA478095342 | KCNA5 | c.738T>A (p.Ser246=)
| |
12 | g.5044885T>C | CA478095343 | KCNA5 | c.738T>C (p.Ser246=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044885T>G | CA478095341 | KCNA5 | c.738T>G (p.Ser246=)
| |
12 | g.5044885T= | CA2013430935 | KCNA5 | c.738T= (p.Ser246=)
| |
12 | g.5044886G>A | CA383465063 | KCNA5 | c.739G>A (p.Gly247Arg)
| dbSNP |
12 | g.5044886G>C | CA383465062 | KCNA5 | c.739G>C (p.Gly247Arg)
| gnomAD v4 |
12 | g.5044886G= | CA2013430936 | KCNA5 | c.739G= (p.Gly247=)
| |
12 | g.5044886G>T | CA383465064 | KCNA5 | c.739G>T (p.Gly247Trp)
| |
12 | g.5044887G>A | CA383465065 | KCNA5 | c.740G>A (p.Gly247Glu)
| dbSNP gnomAD v4 |
12 | g.5044887G>C | CA383465066 | KCNA5 | c.740G>C (p.Gly247Ala)
| |
12 | g.5044887G= | CA2013430937 | KCNA5 | c.740G= (p.Gly247=)
| |
12 | g.5044887G>T | CA383465067 | KCNA5 | c.740G>T (p.Gly247Val)
| COSMIC |
12 | g.5044888G>A | CA478095347 | KCNA5 | c.741G>A (p.Gly247=)
| |
12 | g.5044888G>C | CA478095348 | KCNA5 | c.741G>C (p.Gly247=)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044888G>T | CA478095349 | KCNA5 | c.741G>T (p.Gly247=)
| |
12 | g.5044889T>A | CA383465068 | KCNA5 | c.742T>A (p.Ser248Thr)
| |
12 | g.5044889T>C | CA231867731 | KCNA5 | c.742T>C (p.Ser248Pro)
| dbSNP |
12 | g.5044889T>G | CA383465069 | KCNA5 | c.742T>G (p.Ser248Ala)
| |
12 | g.5044889T= | CA2013430938 | KCNA5 | c.742T= (p.Ser248=)
| |
12 | g.5044890C>A | CA383465070 | KCNA5 | c.743C>A (p.Ser248Tyr)
| |
12 | g.5044890C= | CA2013430940 | KCNA5 | c.743C= (p.Ser248=)
| |
12 | g.5044890C>G | CA383465071 | KCNA5 | c.743C>G (p.Ser248Cys)
| gnomAD v4 |
12 | g.5044890C>T | CA383465072 | KCNA5 | c.743C>T (p.Ser248Phe)
| dbSNP COSMIC |
12 | g.5044890_5044892delinsCCG | CA2013430939 | KCNA5 | c.743_745delinsCCG (p.Ser248=)
| |
12 | g.5044891C>A | CA478095353 | KCNA5 | c.744C>A (p.Ser248=)
| |
12 | g.5044891C= | CA2013430941 | KCNA5 | c.744C= (p.Ser248=)
| |
12 | g.5044891C>G | CA231867737 | KCNA5 | c.744C>G (p.Ser248=)
| ClinVar dbSNP COSMIC |
12 | g.5044891C>T | CA478095352 | KCNA5 | c.744C>T (p.Ser248=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044895_5044896del | CA6399708 | KCNA5 | c.748_749del (p.Arg250GlyfsTer24)
| dbSNP ExAC gnomAD v2 |
12 | g.5044892G>A | CA383465073 | KCNA5 | c.745G>A (p.Ala249Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044892G>C | CA383465074 | KCNA5 | c.745G>C (p.Ala249Pro)
| gnomAD v4 |
12 | g.5044892G= | CA2013430942 | KCNA5 | c.745G= (p.Ala249=)
| |
12 | g.5044892G>T | CA383465075 | KCNA5 | c.745G>T (p.Ala249Ser)
| gnomAD v4 |
12 | g.5044893C>A | CA383465076 | KCNA5 | c.746C>A (p.Ala249Glu)
| |
12 | g.5044893C>G | CA383465078 | KCNA5 | c.746C>G (p.Ala249Gly)
| |
12 | g.5044893C>T | CA383465077 | KCNA5 | c.746C>T (p.Ala249Val)
| gnomAD v4 |
12 | g.5044894G>A | CA478095354 | KCNA5 | c.747G>A (p.Ala249=)
| COSMIC |
12 | g.5044894G>C | CA478095355 | KCNA5 | c.747G>C (p.Ala249=)
| gnomAD v4 |
12 | g.5044894G>T | CA478095356 | KCNA5 | c.747G>T (p.Ala249=)
| COSMIC |
12 | g.5044895C>A | CA231867766 | KCNA5 | c.748C>A (p.Arg250=)
| dbSNP |
12 | g.5044895C= | CA2013430943 | KCNA5 | c.748C= (p.Arg250=)
| |
12 | g.5044895C>G | CA383465079 | KCNA5 | c.748C>G (p.Arg250Gly)
| gnomAD v4 |
12 | g.5044895C>T | CA383465080 | KCNA5 | c.748C>T (p.Arg250Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044896G>A | CA383465081 | KCNA5 | c.749G>A (p.Arg250Gln)
| ClinVar gnomAD v4 COSMIC |
12 | g.5044896G>C | CA231867775 | KCNA5 | c.749G>C (p.Arg250Pro)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044896G= | CA2013430944 | KCNA5 | c.749G= (p.Arg250=)
| |
12 | g.5044896G>T | CA383465082 | KCNA5 | c.749G>T (p.Arg250Leu)
| gnomAD v4 |
12 | g.5044897G>A | CA478095358 | KCNA5 | c.750G>A (p.Arg250=)
| |
12 | g.5044897G>C | CA478095359 | KCNA5 | c.750G>C (p.Arg250=)
| |
12 | g.5044897G>T | CA478095357 | KCNA5 | c.750G>T (p.Arg250=)
| |
12 | g.5044898G>A | CA199945 | KCNA5 | c.751G>A (p.Ala251Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5044898G>C | CA383465083 | KCNA5 | c.751G>C (p.Ala251Pro)
| |
12 | g.5044898G= | CA1630855459 | KCNA5 | c.751G= (p.Ala251=)
| |
12 | g.5044898G>T | CA383465084 | KCNA5 | c.751G>T (p.Ala251Ser)
| dbSNP gnomAD v4 |
12 | g.5044905_5044910dup | CA2617209904 | KCNA5 | c.758_763dup (p.Ile254_Val255insAlaIle)
| gnomAD v4 |
12 | g.5044899C>A | CA383465086 | KCNA5 | c.752C>A (p.Ala251Asp)
| |
12 | g.5044899C= | CA2013430945 | KCNA5 | c.752C= (p.Ala251=)
| |
12 | g.5044899C>G | CA231867779 | KCNA5 | c.752C>G (p.Ala251Gly)
| dbSNP |
12 | g.5044899C>T | CA383465085 | KCNA5 | c.752C>T (p.Ala251Val)
| |
12 | g.5044900del | CA2839810902 | KCNA5 | c.753del (p.Ile252SerfsTer?)
| |
12 | g.5044900C>A | CA478095360 | KCNA5 | c.753C>A (p.Ala251=)
| |
12 | g.5044900C>G | CA478095361 | KCNA5 | c.753C>G (p.Ala251=)
| |
12 | g.5044900C>T | CA478095362 | KCNA5 | c.753C>T (p.Ala251=)
| |
12 | g.5044901A= | CA2013430946 | KCNA5 | c.754A= (p.Ile252=)
| |
12 | g.5044901A>C | CA383465087 | KCNA5 | c.754A>C (p.Ile252Leu)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044901A>G | CA383465088 | KCNA5 | c.754A>G (p.Ile252Val)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044901A>T | CA383465089 | KCNA5 | c.754A>T (p.Ile252Phe)
| |
12 | g.5044902T>A | CA383465090 | KCNA5 | c.755T>A (p.Ile252Asn)
| |
12 | g.5044902T>C | CA383465091 | KCNA5 | c.755T>C (p.Ile252Thr)
| |
12 | g.5044902T>G | CA383465092 | KCNA5 | c.755T>G (p.Ile252Ser)
| gnomAD v4 |
12 | g.5044903C>A | CA478095363 | KCNA5 | c.756C>A (p.Ile252=)
| dbSNP |
12 | g.5044903C= | CA2013430947 | KCNA5 | c.756C= (p.Ile252=)
| |
12 | g.5044903C>G | CA383465093 | KCNA5 | c.756C>G (p.Ile252Met)
| |
12 | g.5044903C>T | CA6399709 | KCNA5 | c.756C>T (p.Ile252=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044904G>A | CA383465094 | KCNA5 | c.757G>A (p.Ala253Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5044904G>C | CA383465095 | KCNA5 | c.757G>C (p.Ala253Pro)
| |
12 | g.5044904G= | CA2013430948 | KCNA5 | c.757G= (p.Ala253=)
| |
12 | g.5044904G>T | CA383465096 | KCNA5 | c.757G>T (p.Ala253Ser)
| |