12 | g.5044192C>A | CA478094498 | KCNA5 | c.45C>A (p.Thr15=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044192C= | CA2013430522 | KCNA5 | c.45C= (p.Thr15=)
| |
12 | g.5044192C>G | CA478094500 | KCNA5 | c.45C>G (p.Thr15=)
| |
12 | g.5044192C>T | CA478094501 | KCNA5 | c.45C>T (p.Thr15=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5044193G>A | CA383461787 | KCNA5 | c.46G>A (p.Val16Ile)
| gnomAD v4 |
12 | g.5044193G>C | CA383461788 | KCNA5 | c.46G>C (p.Val16Leu)
| |
12 | g.5044193G= | CA2013430523 | KCNA5 | c.46G= (p.Val16=)
| |
12 | g.5044193G>T | CA383461789 | KCNA5 | c.46G>T (p.Val16Phe)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044194T>A | CA383461790 | KCNA5 | c.47T>A (p.Val16Asp)
| |
12 | g.5044194T>C | CA383461791 | KCNA5 | c.47T>C (p.Val16Ala)
| gnomAD v4 |
12 | g.5044194T>G | CA383461792 | KCNA5 | c.47T>G (p.Val16Gly)
| |
12 | g.5044195C>A | CA478094502 | KCNA5 | c.48C>A (p.Val16=)
| gnomAD v4 |
12 | g.5044195C>G | CA478094504 | KCNA5 | c.48C>G (p.Val16=)
| |
12 | g.5044195C>T | CA478094505 | KCNA5 | c.48C>T (p.Val16=)
| gnomAD v4 |
12 | g.5044196A>C | CA478094506 | KCNA5 | c.49A>C (p.Arg17=)
| |
12 | g.5044196A>G | CA383461793 | KCNA5 | c.49A>G (p.Arg17Gly)
| gnomAD v4 |
12 | g.5044196A>T | CA383461794 | KCNA5 | c.49A>T (p.Arg17Ter)
| gnomAD v4 |
12 | g.5044197G>A | CA6399531 | KCNA5 | c.50G>A (p.Arg17Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044197G>C | CA383461795 | KCNA5 | c.50G>C (p.Arg17Thr)
| |
12 | g.5044197G= | CA2013430524 | KCNA5 | c.50G= (p.Arg17=)
| |
12 | g.5044197G>T | CA383461796 | KCNA5 | c.50G>T (p.Arg17Ile)
| gnomAD v4 |
12 | g.5044198A>C | CA383461797 | KCNA5 | c.51A>C (p.Arg17Ser)
| |
12 | g.5044198A>G | CA478094510 | KCNA5 | c.51A>G (p.Arg17=)
| |
12 | g.5044198A>T | CA383461798 | KCNA5 | c.51A>T (p.Arg17Ser)
| |
12 | g.5044199G>A | CA383461801 | KCNA5 | c.52G>A (p.Gly18Arg)
| dbSNP gnomAD v4 |
12 | g.5044199G>C | CA383461799 | KCNA5 | c.52G>C (p.Gly18Arg)
| |
12 | g.5044199G= | CA2013430525 | KCNA5 | c.52G= (p.Gly18=)
| |
12 | g.5044199G>T | CA383461800 | KCNA5 | c.52G>T (p.Gly18Ter)
| gnomAD v4 |
12 | g.5044200G>A | CA231866755 | KCNA5 | c.53G>A (p.Gly18Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044200G>C | CA383461802 | KCNA5 | c.53G>C (p.Gly18Ala)
| |
12 | g.5044200G= | CA2013430526 | KCNA5 | c.53G= (p.Gly18=)
| |
12 | g.5044200G>T | CA383461803 | KCNA5 | c.53G>T (p.Gly18Val)
| gnomAD v4 |
12 | g.5044201A= | CA2013430527 | KCNA5 | c.54A= (p.Gly18=)
| |
12 | g.5044201A>C | CA478094511 | KCNA5 | c.54A>C (p.Gly18=)
| |
12 | g.5044201A>G | CA478094512 | KCNA5 | c.54A>G (p.Gly18=)
| dbSNP gnomAD v4 |
12 | g.5044201A>T | CA478094513 | KCNA5 | c.54A>T (p.Gly18=)
| |
12 | g.5044202G>A | CA383461804 | KCNA5 | c.55G>A (p.Gly19Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044202G>C | CA383461805 | KCNA5 | c.55G>C (p.Gly19Arg)
| |
12 | g.5044202G= | CA2013430528 | KCNA5 | c.55G= (p.Gly19=)
| |
12 | g.5044202G>T | CA383461806 | KCNA5 | c.55G>T (p.Gly19Cys)
| gnomAD v4 |
12 | g.5044203G>A | CA383461807 | KCNA5 | c.56G>A (p.Gly19Asp)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044203G>C | CA383461808 | KCNA5 | c.56G>C (p.Gly19Ala)
| gnomAD v4 |
12 | g.5044203G= | CA2013430529 | KCNA5 | c.56G= (p.Gly19=)
| |
12 | g.5044203G>T | CA383461809 | KCNA5 | c.56G>T (p.Gly19Val)
| gnomAD v4 |
12 | g.5044204C>A | CA478094515 | KCNA5 | c.57C>A (p.Gly19=)
| gnomAD v4 |
12 | g.5044204C= | CA2013430530 | KCNA5 | c.57C= (p.Gly19=)
| |
12 | g.5044204C>G | CA478094516 | KCNA5 | c.57C>G (p.Gly19=)
| gnomAD v4 |
12 | g.5044204C>T | CA478094517 | KCNA5 | c.57C>T (p.Gly19=)
| dbSNP gnomAD v4 |
12 | g.5044205G>A | CA383461810 | KCNA5 | c.58G>A (p.Asp20Asn)
| gnomAD v4 COSMIC |
12 | g.5044205G>C | CA383461811 | KCNA5 | c.58G>C (p.Asp20His)
| |
12 | g.5044205G>T | CA383461812 | KCNA5 | c.58G>T (p.Asp20Tyr)
| gnomAD v4 |
12 | g.5044206A= | CA2013430531 | KCNA5 | c.59A= (p.Asp20=)
| |
12 | g.5044206A>C | CA383461815 | KCNA5 | c.59A>C (p.Asp20Ala)
| dbSNP |
12 | g.5044206A>G | CA383461814 | KCNA5 | c.59A>G (p.Asp20Gly)
| gnomAD v4 |
12 | g.5044206A>T | CA383461813 | KCNA5 | c.59A>T (p.Asp20Val)
| |
12 | g.5044207T>A | CA383461817 | KCNA5 | c.60T>A (p.Asp20Glu)
| gnomAD v4 |
12 | g.5044207T>C | CA478094518 | KCNA5 | c.60T>C (p.Asp20=)
| |
12 | g.5044207T>G | CA383461816 | KCNA5 | c.60T>G (p.Asp20Glu)
| |
12 | g.5044208G>A | CA383461820 | KCNA5 | c.61G>A (p.Glu21Lys)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044208G>C | CA383461818 | KCNA5 | c.61G>C (p.Glu21Gln)
| |
12 | g.5044208G= | CA2013430532 | KCNA5 | c.61G= (p.Glu21=)
| |
12 | g.5044208G>T | CA383461819 | KCNA5 | c.61G>T (p.Glu21Ter)
| gnomAD v4 |
12 | g.5044209A= | CA2013430533 | KCNA5 | c.62A= (p.Glu21=)
| |
12 | g.5044209A>C | CA231866757 | KCNA5 | c.62A>C (p.Glu21Ala)
| dbSNP |
12 | g.5044209A>G | CA383461821 | KCNA5 | c.62A>G (p.Glu21Gly)
| gnomAD v4 |
12 | g.5044209A>T | CA383461822 | KCNA5 | c.62A>T (p.Glu21Val)
| |
12 | g.5044210G>A | CA478094787 | KCNA5 | c.63G>A (p.Glu21=)
| gnomAD v4 |
12 | g.5044210G>C | CA383461823 | KCNA5 | c.63G>C (p.Glu21Asp)
| |
12 | g.5044210G>T | CA383461824 | KCNA5 | c.63G>T (p.Glu21Asp)
| gnomAD v4 |
12 | g.5044211G>A | CA383461825 | KCNA5 | c.64G>A (p.Ala22Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044211G>C | CA383461826 | KCNA5 | c.64G>C (p.Ala22Pro)
| gnomAD v4 |
12 | g.5044211G= | CA2013430534 | KCNA5 | c.64G= (p.Ala22=)
| |
12 | g.5044211G>T | CA383461827 | KCNA5 | c.64G>T (p.Ala22Ser)
| gnomAD v4 |
12 | g.5044212C>A | CA383461828 | KCNA5 | c.65C>A (p.Ala22Asp)
| gnomAD v4 |
12 | g.5044212C= | CA2013430535 | KCNA5 | c.65C= (p.Ala22=)
| |
12 | g.5044212C>G | CA383461829 | KCNA5 | c.65C>G (p.Ala22Gly)
| |
12 | g.5044212C>T | CA383461830 | KCNA5 | c.65C>T (p.Ala22Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044213C>A | CA478094791 | KCNA5 | c.66C>A (p.Ala22=)
| |
12 | g.5044213C>G | CA478094792 | KCNA5 | c.66C>G (p.Ala22=)
| |
12 | g.5044213C>T | CA478094793 | KCNA5 | c.66C>T (p.Ala22=)
| gnomAD v4 |
12 | g.5044214C>A | CA478094795 | KCNA5 | c.67C>A (p.Arg23=)
| gnomAD v4 |
12 | g.5044214C= | CA2013430536 | KCNA5 | c.67C= (p.Arg23=)
| |
12 | g.5044214C>G | CA6399533 | KCNA5 | c.67C>G (p.Arg23Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044214C>T | CA6399532 | KCNA5 | c.67C>T (p.Arg23Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044215G>A | CA383461831 | KCNA5 | c.68G>A (p.Arg23Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044215G>C | CA383461832 | KCNA5 | c.68G>C (p.Arg23Pro)
| dbSNP gnomAD v4 |
12 | g.5044215G= | CA2013430537 | KCNA5 | c.68G= (p.Arg23=)
| |
12 | g.5044215G>T | CA383461833 | KCNA5 | c.68G>T (p.Arg23Leu)
| gnomAD v4 |
12 | g.5044216G>A | CA478094797 | KCNA5 | c.69G>A (p.Arg23=)
| ClinVar gnomAD v4 COSMIC |
12 | g.5044216G>C | CA478094798 | KCNA5 | c.69G>C (p.Arg23=)
| |
12 | g.5044216G>T | CA478094799 | KCNA5 | c.69G>T (p.Arg23=)
| gnomAD v4 |
12 | g.5044217G>A | CA383461834 | KCNA5 | c.70G>A (p.Ala24Thr)
| gnomAD v4 |
12 | g.5044217G>C | CA383461835 | KCNA5 | c.70G>C (p.Ala24Pro)
| |
12 | g.5044217G= | CA2013430538 | KCNA5 | c.70G= (p.Ala24=)
| |
12 | g.5044217G>T | CA383461836 | KCNA5 | c.70G>T (p.Ala24Ser)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044218C>A | CA383461837 | KCNA5 | c.71C>A (p.Ala24Glu)
| gnomAD v4 |
12 | g.5044218C>G | CA383461838 | KCNA5 | c.71C>G (p.Ala24Gly)
| |
12 | g.5044218C>T | CA383461839 | KCNA5 | c.71C>T (p.Ala24Val)
| gnomAD v4 |
12 | g.5044219A= | CA2013430539 | KCNA5 | c.72A= (p.Ala24=)
| |
12 | g.5044219A>C | CA478094801 | KCNA5 | c.72A>C (p.Ala24=)
| |
12 | g.5044219A>G | CA478094802 | KCNA5 | c.72A>G (p.Ala24=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044219A>T | CA478094803 | KCNA5 | c.72A>T (p.Ala24=)
| |
12 | g.5044220G>A | CA383461840 | KCNA5 | c.73G>A (p.Gly25Ser)
| |
12 | g.5044220G>C | CA383461841 | KCNA5 | c.73G>C (p.Gly25Arg)
| |
12 | g.5044220G>T | CA383461842 | KCNA5 | c.73G>T (p.Gly25Cys)
| gnomAD v4 |
12 | g.5044221G>A | CA383461845 | KCNA5 | c.74G>A (p.Gly25Asp)
| gnomAD v4 |
12 | g.5044221G>C | CA383461844 | KCNA5 | c.74G>C (p.Gly25Ala)
| gnomAD v4 |
12 | g.5044221G>T | CA383461843 | KCNA5 | c.74G>T (p.Gly25Val)
| gnomAD v4 |
12 | g.5044222C>A | CA478094807 | KCNA5 | c.75C>A (p.Gly25=)
| gnomAD v4 |
12 | g.5044222C>G | CA478094808 | KCNA5 | c.75C>G (p.Gly25=)
| |
12 | g.5044222C>T | CA478094809 | KCNA5 | c.75C>T (p.Gly25=)
| gnomAD v4 |
12 | g.5044223T>A | CA383461846 | KCNA5 | c.76T>A (p.Cys26Ser)
| dbSNP gnomAD v4 |
12 | g.5044223T>C | CA383461847 | KCNA5 | c.76T>C (p.Cys26Arg)
| dbSNP gnomAD v4 |
12 | g.5044223T>G | CA383461848 | KCNA5 | c.76T>G (p.Cys26Gly)
| gnomAD v4 |
12 | g.5044223T= | CA2013430540 | KCNA5 | c.76T= (p.Cys26=)
| |
12 | g.5044224G>A | CA383461849 | KCNA5 | c.77G>A (p.Cys26Tyr)
| gnomAD v4 |
12 | g.5044224G>C | CA383461850 | KCNA5 | c.77G>C (p.Cys26Ser)
| |
12 | g.5044224G>T | CA383461851 | KCNA5 | c.77G>T (p.Cys26Phe)
| gnomAD v4 |
12 | g.5044225C>A | CA383461852 | KCNA5 | c.78C>A (p.Cys26Ter)
| gnomAD v4 |
12 | g.5044225C= | CA2013430541 | KCNA5 | c.78C= (p.Cys26=)
| |
12 | g.5044225C>G | CA383461853 | KCNA5 | c.78C>G (p.Cys26Trp)
| |
12 | g.5044225C>T | CA6399534 | KCNA5 | c.78C>T (p.Cys26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044226G>A | CA6399535 | KCNA5 | c.79G>A (p.Gly27Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044226G>C | CA383461854 | KCNA5 | c.79G>C (p.Gly27Arg)
| |
12 | g.5044226G= | CA2013430542 | KCNA5 | c.79G= (p.Gly27=)
| |
12 | g.5044226G>T | CA383461855 | KCNA5 | c.79G>T (p.Gly27Cys)
| gnomAD v4 |
12 | g.5044227G>A | CA6399536 | KCNA5 | c.80G>A (p.Gly27Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044227G>C | CA383461857 | KCNA5 | c.80G>C (p.Gly27Ala)
| |
12 | g.5044227G= | CA2013430543 | KCNA5 | c.80G= (p.Gly27=)
| |
12 | g.5044227G>T | CA383461856 | KCNA5 | c.80G>T (p.Gly27Val)
| dbSNP gnomAD v4 |
12 | g.5044228C>A | CA478094818 | KCNA5 | c.81C>A (p.Gly27=)
| gnomAD v4 |
12 | g.5044228C= | CA2013430544 | KCNA5 | c.81C= (p.Gly27=)
| |
12 | g.5044228C>G | CA478094819 | KCNA5 | c.81C>G (p.Gly27=)
| gnomAD v4 |
12 | g.5044228C>T | CA478094821 | KCNA5 | c.81C>T (p.Gly27=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044229C>A | CA383461858 | KCNA5 | c.82C>A (p.Gln28Lys)
| gnomAD v4 |
12 | g.5044229C>G | CA383461859 | KCNA5 | c.82C>G (p.Gln28Glu)
| |
12 | g.5044229C>T | CA383461860 | KCNA5 | c.82C>T (p.Gln28Ter)
| gnomAD v4 |
12 | g.5044230A>C | CA383461861 | KCNA5 | c.83A>C (p.Gln28Pro)
| |
12 | g.5044230A>G | CA383461862 | KCNA5 | c.83A>G (p.Gln28Arg)
| gnomAD v4 |
12 | g.5044230A>T | CA383461863 | KCNA5 | c.83A>T (p.Gln28Leu)
| COSMIC |
12 | g.5044231G>A | CA478094823 | KCNA5 | c.84G>A (p.Gln28=)
| gnomAD v4 |
12 | g.5044231G>C | CA383461864 | KCNA5 | c.84G>C (p.Gln28His)
| |
12 | g.5044231G>T | CA383461865 | KCNA5 | c.84G>T (p.Gln28His)
| gnomAD v4 |
12 | g.5044232G>A | CA383461866 | KCNA5 | c.85G>A (p.Ala29Thr)
| gnomAD v4 |
12 | g.5044232G>C | CA383461867 | KCNA5 | c.85G>C (p.Ala29Pro)
| |
12 | g.5044232G>T | CA383461868 | KCNA5 | c.85G>T (p.Ala29Ser)
| gnomAD v4 |
12 | g.5044233C>A | CA6399537 | KCNA5 | c.86C>A (p.Ala29Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044233C= | CA2013430545 | KCNA5 | c.86C= (p.Ala29=)
| |
12 | g.5044233C>G | CA383461869 | KCNA5 | c.86C>G (p.Ala29Gly)
| |
12 | g.5044233C>T | CA383461870 | KCNA5 | c.86C>T (p.Ala29Val)
| gnomAD v4 |
12 | g.5044234C>A | CA478094825 | KCNA5 | c.87C>A (p.Ala29=)
| gnomAD v4 |
12 | g.5044234C= | CA2013430546 | KCNA5 | c.87C= (p.Ala29=)
| |
12 | g.5044234C>G | CA478094826 | KCNA5 | c.87C>G (p.Ala29=)
| |
12 | g.5044234C>T | CA478094827 | KCNA5 | c.87C>T (p.Ala29=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044235A>C | CA383461872 | KCNA5 | c.88A>C (p.Thr30Pro)
| gnomAD v4 |
12 | g.5044235A>G | CA383461873 | KCNA5 | c.88A>G (p.Thr30Ala)
| gnomAD v4 |
12 | g.5044235A>T | CA383461871 | KCNA5 | c.88A>T (p.Thr30Ser)
| gnomAD v4 |
12 | g.5044236C>A | CA383461874 | KCNA5 | c.89C>A (p.Thr30Lys)
| gnomAD v4 |
12 | g.5044236C>G | CA383461876 | KCNA5 | c.89C>G (p.Thr30Arg)
| gnomAD v4 |
12 | g.5044236C>T | CA383461875 | KCNA5 | c.89C>T (p.Thr30Ile)
| gnomAD v4 |
12 | g.5044237A= | CA2013430547 | KCNA5 | c.90A= (p.Thr30=)
| |
12 | g.5044237A>C | CA478094829 | KCNA5 | c.90A>C (p.Thr30=)
| |
12 | g.5044237A>G | CA478094831 | KCNA5 | c.90A>G (p.Thr30=)
| gnomAD v4 |
12 | g.5044237A>T | CA478094830 | KCNA5 | c.90A>T (p.Thr30=)
| gnomAD v4 |
12 | g.5044238G>A | CA383461877 | KCNA5 | c.91G>A (p.Gly31Arg)
| gnomAD v4 COSMIC |
12 | g.5044238G>C | CA383461878 | KCNA5 | c.91G>C (p.Gly31Arg)
| ClinVar dbSNP |
12 | g.5044238G= | CA2013430548 | KCNA5 | c.91G= (p.Gly31=)
| |
12 | g.5044238G>T | CA383461879 | KCNA5 | c.91G>T (p.Gly31Trp)
| gnomAD v4 |
12 | g.5044242dup | CA915947829 | KCNA5 | c.95dup (p.Glu33ArgfsTer?)
| ClinVar dbSNP |
12 | g.5044242del | CA2575052156 | KCNA5 | c.95del (p.Gly32GlufsTer?)
| gnomAD v4 |
12 | g.5044239G>A | CA383461880 | KCNA5 | c.92G>A (p.Gly31Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5044239G>C | CA6399539 | KCNA5 | c.92G>C (p.Gly31Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044239G= | CA2013430549 | KCNA5 | c.92G= (p.Gly31=)
| |
12 | g.5044239G>T | CA6399538 | KCNA5 | c.92G>T (p.Gly31Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044240G>A | CA478094833 | KCNA5 | c.93G>A (p.Gly31=)
| |
12 | g.5044240G>C | CA478094834 | KCNA5 | c.93G>C (p.Gly31=)
| gnomAD v4 |
12 | g.5044240G>T | CA478094836 | KCNA5 | c.93G>T (p.Gly31=)
| gnomAD v4 |
12 | g.5044241G>A | CA383461883 | KCNA5 | c.94G>A (p.Gly32Arg)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044241G>C | CA383461882 | KCNA5 | c.94G>C (p.Gly32Arg)
| |
12 | g.5044241G= | CA2013430550 | KCNA5 | c.94G= (p.Gly32=)
| |
12 | g.5044241G>T | CA383461881 | KCNA5 | c.94G>T (p.Gly32Ter)
| gnomAD v4 |
12 | g.5044242G>A | CA383461884 | KCNA5 | c.95G>A (p.Gly32Glu)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044242G>C | CA383461885 | KCNA5 | c.95G>C (p.Gly32Ala)
| |
12 | g.5044242G= | CA2013430551 | KCNA5 | c.95G= (p.Gly32=)
| |
12 | g.5044242G>T | CA383461886 | KCNA5 | c.95G>T (p.Gly32Val)
| dbSNP gnomAD v4 |
12 | g.5044243A= | CA2013430552 | KCNA5 | c.96A= (p.Gly32=)
| |
12 | g.5044243A>C | CA478094838 | KCNA5 | c.96A>C (p.Gly32=)
| |
12 | g.5044243A>G | CA478094840 | KCNA5 | c.96A>G (p.Gly32=)
| dbSNP gnomAD v4 |
12 | g.5044243A>T | CA478094839 | KCNA5 | c.96A>T (p.Gly32=)
| |
12 | g.5044244G>A | CA383461887 | KCNA5 | c.97G>A (p.Glu33Lys)
| gnomAD v4 |
12 | g.5044244G>C | CA231866781 | KCNA5 | c.97G>C (p.Glu33Gln)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044244G= | CA2013430553 | KCNA5 | c.97G= (p.Glu33=)
| |
12 | g.5044244G>T | CA383461888 | KCNA5 | c.97G>T (p.Glu33Ter)
| gnomAD v4 |
12 | g.5044245A= | CA2013430554 | KCNA5 | c.98A= (p.Glu33=)
| |
12 | g.5044245A>C | CA383461889 | KCNA5 | c.98A>C (p.Glu33Ala)
| gnomAD v4 |
12 | g.5044245A>G | CA383461890 | KCNA5 | c.98A>G (p.Glu33Gly)
| gnomAD v4 |
12 | g.5044245A>T | CA6399540 | KCNA5 | c.98A>T (p.Glu33Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044246G>A | CA478094844 | KCNA5 | c.99G>A (p.Glu33=)
| gnomAD v4 |
12 | g.5044246G>C | CA383461891 | KCNA5 | c.99G>C (p.Glu33Asp)
| |
12 | g.5044246G>T | CA383461892 | KCNA5 | c.99G>T (p.Glu33Asp)
| gnomAD v4 |
12 | g.5044247C>A | CA383461893 | KCNA5 | c.100C>A (p.Leu34Ile)
| gnomAD v4 |
12 | g.5044247C>G | CA383461894 | KCNA5 | c.100C>G (p.Leu34Val)
| |
12 | g.5044247C>T | CA383461895 | KCNA5 | c.100C>T (p.Leu34Phe)
| gnomAD v4 |
12 | g.5044248T>A | CA383461896 | KCNA5 | c.101T>A (p.Leu34His)
| gnomAD v4 |
12 | g.5044248T>C | CA383461897 | KCNA5 | c.101T>C (p.Leu34Pro)
| gnomAD v4 |
12 | g.5044248T>G | CA383461898 | KCNA5 | c.101T>G (p.Leu34Arg)
| gnomAD v4 |
12 | g.5044249C>A | CA478094846 | KCNA5 | c.102C>A (p.Leu34=)
| |
12 | g.5044249C>G | CA478094850 | KCNA5 | c.102C>G (p.Leu34=)
| |
12 | g.5044249C>T | CA478094848 | KCNA5 | c.102C>T (p.Leu34=)
| gnomAD v4 |
12 | g.5044250C>A | CA383461899 | KCNA5 | c.103C>A (p.Gln35Lys)
| gnomAD v4 |
12 | g.5044250C>G | CA383461900 | KCNA5 | c.103C>G (p.Gln35Glu)
| |
12 | g.5044250C>T | CA383461901 | KCNA5 | c.103C>T (p.Gln35Ter)
| gnomAD v4 |
12 | g.5044251A>C | CA383461902 | KCNA5 | c.104A>C (p.Gln35Pro)
| |
12 | g.5044251A>G | CA383461904 | KCNA5 | c.104A>G (p.Gln35Arg)
| gnomAD v4 |
12 | g.5044251A>T | CA383461903 | KCNA5 | c.104A>T (p.Gln35Leu)
| gnomAD v4 |
12 | g.5044252G>A | CA478094853 | KCNA5 | c.105G>A (p.Gln35=)
| |
12 | g.5044252G>C | CA383461905 | KCNA5 | c.105G>C (p.Gln35His)
| |
12 | g.5044252G>T | CA383461906 | KCNA5 | c.105G>T (p.Gln35His)
| gnomAD v4 |
12 | g.5044253T>A | CA231866787 | KCNA5 | c.106T>A (p.Cys36Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044253T>C | CA383461907 | KCNA5 | c.106T>C (p.Cys36Arg)
| dbSNP gnomAD v4 |
12 | g.5044253T>G | CA383461908 | KCNA5 | c.106T>G (p.Cys36Gly)
| gnomAD v4 |
12 | g.5044253T= | CA2013430555 | KCNA5 | c.106T= (p.Cys36=)
| |
12 | g.5044254G>A | CA383461909 | KCNA5 | c.107G>A (p.Cys36Tyr)
| gnomAD v4 |
12 | g.5044254G>C | CA383461910 | KCNA5 | c.107G>C (p.Cys36Ser)
| |
12 | g.5044254G>T | CA383461911 | KCNA5 | c.107G>T (p.Cys36Phe)
| gnomAD v4 |
12 | g.5044255T>A | CA383461912 | KCNA5 | c.108T>A (p.Cys36Ter)
| |
12 | g.5044255T>C | CA478094859 | KCNA5 | c.108T>C (p.Cys36=)
| gnomAD v4 |
12 | g.5044255T>G | CA383461913 | KCNA5 | c.108T>G (p.Cys36Trp)
| |
12 | g.5044256C>A | CA383461914 | KCNA5 | c.109C>A (p.Pro37Thr)
| gnomAD v4 |
12 | g.5044256C= | CA2013430556 | KCNA5 | c.109C= (p.Pro37=)
| |
12 | g.5044256C>G | CA383461915 | KCNA5 | c.109C>G (p.Pro37Ala)
| gnomAD v4 |
12 | g.5044256C>T | CA6399541 | KCNA5 | c.109C>T (p.Pro37Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044260del | CA2617209882 | KCNA5 | c.113del (p.Pro38ArgfsTer?)
| gnomAD v4 |
12 | g.5044257C>A | CA383461916 | KCNA5 | c.110C>A (p.Pro37His)
| gnomAD v4 |
12 | g.5044257C= | CA2013430557 | KCNA5 | c.110C= (p.Pro37=)
| |
12 | g.5044257C>G | CA383461917 | KCNA5 | c.110C>G (p.Pro37Arg)
| dbSNP gnomAD v4 |
12 | g.5044257C>T | CA231866796 | KCNA5 | c.110C>T (p.Pro37Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044258C>A | CA6399542 | KCNA5 | c.111C>A (p.Pro37=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044258C= | CA2013430558 | KCNA5 | c.111C= (p.Pro37=)
| |
12 | g.5044258C>G | CA478094865 | KCNA5 | c.111C>G (p.Pro37=)
| |
12 | g.5044258C>T | CA478094866 | KCNA5 | c.111C>T (p.Pro37=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044259C>A | CA383461918 | KCNA5 | c.112C>A (p.Pro38Thr)
| gnomAD v4 |
12 | g.5044259C= | CA2013430559 | KCNA5 | c.112C= (p.Pro38=)
| |
12 | g.5044259C>G | CA383461919 | KCNA5 | c.112C>G (p.Pro38Ala)
| gnomAD v4 |
12 | g.5044259C>T | CA231866803 | KCNA5 | c.112C>T (p.Pro38Ser)
| dbSNP |
12 | g.5044260C>A | CA383461920 | KCNA5 | c.113C>A (p.Pro38Gln)
| gnomAD v4 |
12 | g.5044260C= | CA2013430560 | KCNA5 | c.113C= (p.Pro38=)
| |
12 | g.5044260C>G | CA383461921 | KCNA5 | c.113C>G (p.Pro38Arg)
| |
12 | g.5044260C>T | CA383461922 | KCNA5 | c.113C>T (p.Pro38Leu)
| dbSNP gnomAD v4 |
12 | g.5044261del | CA2617209883 | KCNA5 | c.114del (p.Thr39ArgfsTer?)
| gnomAD v4 |
12 | g.5044261G>A | CA478094870 | KCNA5 | c.114G>A (p.Pro38=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044261G>C | CA478094871 | KCNA5 | c.114G>C (p.Pro38=)
| |
12 | g.5044261G= | CA2013430561 | KCNA5 | c.114G= (p.Pro38=)
| |
12 | g.5044261G>T | CA478094873 | KCNA5 | c.114G>T (p.Pro38=)
| gnomAD v4 |
12 | g.5044262A= | CA2013430562 | KCNA5 | c.115A= (p.Thr39=)
| |
12 | g.5044262A>C | CA383461923 | KCNA5 | c.115A>C (p.Thr39Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044262A>G | CA383461924 | KCNA5 | c.115A>G (p.Thr39Ala)
| |
12 | g.5044262A>T | CA383461925 | KCNA5 | c.115A>T (p.Thr39Ser)
| |
12 | g.5044263C>A | CA383461928 | KCNA5 | c.116C>A (p.Thr39Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044263C= | CA2013430563 | KCNA5 | c.116C= (p.Thr39=)
| |
12 | g.5044263C>G | CA383461927 | KCNA5 | c.116C>G (p.Thr39Arg)
| |
12 | g.5044263C>T | CA383461926 | KCNA5 | c.116C>T (p.Thr39Met)
| gnomAD v4 |
12 | g.5044264G>A | CA478094874 | KCNA5 | c.117G>A (p.Thr39=)
| gnomAD v4 |
12 | g.5044264G>C | CA478094879 | KCNA5 | c.117G>C (p.Thr39=)
| dbSNP gnomAD v4 |
12 | g.5044264G= | CA2013430564 | KCNA5 | c.117G= (p.Thr39=)
| |
12 | g.5044264G>T | CA478094877 | KCNA5 | c.117G>T (p.Thr39=)
| gnomAD v4 |
12 | g.5044265G>A | CA231866808 | KCNA5 | c.118G>A (p.Ala40Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044265G>C | CA383461929 | KCNA5 | c.118G>C (p.Ala40Pro)
| gnomAD v4 |
12 | g.5044265G= | CA2013430565 | KCNA5 | c.118G= (p.Ala40=)
| |
12 | g.5044265G>T | CA383461930 | KCNA5 | c.118G>T (p.Ala40Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044266C>A | CA383461931 | KCNA5 | c.119C>A (p.Ala40Asp)
| gnomAD v4 |
12 | g.5044266C>G | CA383461932 | KCNA5 | c.119C>G (p.Ala40Gly)
| gnomAD v4 |
12 | g.5044266C>T | CA383461933 | KCNA5 | c.119C>T (p.Ala40Val)
| gnomAD v4 |
12 | g.5044267T>A | CA478094882 | KCNA5 | c.120T>A (p.Ala40=)
| |
12 | g.5044267T>C | CA478094886 | KCNA5 | c.120T>C (p.Ala40=)
| gnomAD v4 |
12 | g.5044267T>G | CA478094884 | KCNA5 | c.120T>G (p.Ala40=)
| |
12 | g.5044268G>A | CA383461934 | KCNA5 | c.121G>A (p.Gly41Arg)
| gnomAD v4 |
12 | g.5044268G>C | CA383461935 | KCNA5 | c.121G>C (p.Gly41Arg)
| |
12 | g.5044268G>T | CA383461936 | KCNA5 | c.121G>T (p.Gly41Trp)
| gnomAD v4 |
12 | g.5044270del | CA2617209884 | KCNA5 | c.123del (p.Leu42SerfsTer?)
| gnomAD v4 |
12 | g.5044269G>A | CA6399543 | KCNA5 | c.122G>A (p.Gly41Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044269G>C | CA383461937 | KCNA5 | c.122G>C (p.Gly41Ala)
| dbSNP |
12 | g.5044269G= | CA2013430566 | KCNA5 | c.122G= (p.Gly41=)
| |
12 | g.5044269G>T | CA383461938 | KCNA5 | c.122G>T (p.Gly41Val)
| gnomAD v4 |
12 | g.5044270G>A | CA478094891 | KCNA5 | c.123G>A (p.Gly41=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044270G>C | CA6399544 | KCNA5 | c.123G>C (p.Gly41=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044270G= | CA2013430567 | KCNA5 | c.123G= (p.Gly41=)
| |
12 | g.5044270G>T | CA478094889 | KCNA5 | c.123G>T (p.Gly41=)
| gnomAD v4 |
12 | g.5044271C>A | CA383461941 | KCNA5 | c.124C>A (p.Leu42Ile)
| gnomAD v4 |
12 | g.5044271C>G | CA383461940 | KCNA5 | c.124C>G (p.Leu42Val)
| |
12 | g.5044271C>T | CA383461939 | KCNA5 | c.124C>T (p.Leu42Phe)
| |
12 | g.5044272T>A | CA383461942 | KCNA5 | c.125T>A (p.Leu42His)
| |
12 | g.5044272T>C | CA383461943 | KCNA5 | c.125T>C (p.Leu42Pro)
| |
12 | g.5044272T>G | CA383461944 | KCNA5 | c.125T>G (p.Leu42Arg)
| |
12 | g.5044273C>A | CA478094894 | KCNA5 | c.126C>A (p.Leu42=)
| gnomAD v4 |
12 | g.5044273C>G | CA478094896 | KCNA5 | c.126C>G (p.Leu42=)
| |
12 | g.5044273C>T | CA478094895 | KCNA5 | c.126C>T (p.Leu42=)
| gnomAD v4 |
12 | g.5044274A= | CA2013430568 | KCNA5 | c.127A= (p.Ser43=)
| |
12 | g.5044274A>C | CA383461945 | KCNA5 | c.127A>C (p.Ser43Arg)
| |
12 | g.5044274A>G | CA383461946 | KCNA5 | c.127A>G (p.Ser43Gly)
| gnomAD v4 |
12 | g.5044274A>T | CA383461947 | KCNA5 | c.127A>T (p.Ser43Cys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044275G>A | CA383461948 | KCNA5 | c.128G>A (p.Ser43Asn)
| |
12 | g.5044275G>C | CA383461949 | KCNA5 | c.128G>C (p.Ser43Thr)
| |
12 | g.5044275G>T | CA383461950 | KCNA5 | c.128G>T (p.Ser43Ile)
| gnomAD v4 |
12 | g.5044276C>A | CA383461951 | KCNA5 | c.129C>A (p.Ser43Arg)
| dbSNP gnomAD v4 |
12 | g.5044276C= | CA2013430569 | KCNA5 | c.129C= (p.Ser43=)
| |
12 | g.5044276C>G | CA383461952 | KCNA5 | c.129C>G (p.Ser43Arg)
| |
12 | g.5044276C>T | CA478094900 | KCNA5 | c.129C>T (p.Ser43=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044277G>A | CA231866822 | KCNA5 | c.130G>A (p.Asp44Asn)
| dbSNP gnomAD v4 |
12 | g.5044277G>C | CA383461953 | KCNA5 | c.130G>C (p.Asp44His)
| |
12 | g.5044277G= | CA2013430570 | KCNA5 | c.130G= (p.Asp44=)
| |
12 | g.5044277G>T | CA383461954 | KCNA5 | c.130G>T (p.Asp44Tyr)
| gnomAD v4 |
12 | g.5044278A>C | CA383461956 | KCNA5 | c.131A>C (p.Asp44Ala)
| |
12 | g.5044278A>G | CA383461957 | KCNA5 | c.131A>G (p.Asp44Gly)
| |
12 | g.5044278A>T | CA383461955 | KCNA5 | c.131A>T (p.Asp44Val)
| gnomAD v4 |
12 | g.5044279T>A | CA383461958 | KCNA5 | c.132T>A (p.Asp44Glu)
| |
12 | g.5044279T>C | CA478094903 | KCNA5 | c.132T>C (p.Asp44=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044279T>G | CA383461959 | KCNA5 | c.132T>G (p.Asp44Glu)
| |
12 | g.5044279T= | CA2013430571 | KCNA5 | c.132T= (p.Asp44=)
| |
12 | g.5044280G>A | CA383461960 | KCNA5 | c.133G>A (p.Gly45Arg)
| gnomAD v4 |
12 | g.5044280G>C | CA383461961 | KCNA5 | c.133G>C (p.Gly45Arg)
| |
12 | g.5044280G>T | CA383461962 | KCNA5 | c.133G>T (p.Gly45Trp)
| gnomAD v4 |
12 | g.5044281G>A | CA383461963 | KCNA5 | c.134G>A (p.Gly45Glu)
| gnomAD v4 |
12 | g.5044281G>C | CA383461964 | KCNA5 | c.134G>C (p.Gly45Ala)
| |
12 | g.5044281G>T | CA383461965 | KCNA5 | c.134G>T (p.Gly45Val)
| gnomAD v4 |
12 | g.5044282G>A | CA6399545 | KCNA5 | c.135G>A (p.Gly45=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044282G>C | CA478094905 | KCNA5 | c.135G>C (p.Gly45=)
| |
12 | g.5044282G= | CA2013430572 | KCNA5 | c.135G= (p.Gly45=)
| |
12 | g.5044282G>T | CA478094907 | KCNA5 | c.135G>T (p.Gly45=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044283C>A | CA383461966 | KCNA5 | c.136C>A (p.Pro46Thr)
| gnomAD v4 |
12 | g.5044283C= | CA2013430573 | KCNA5 | c.136C= (p.Pro46=)
| |
12 | g.5044283C>G | CA383461967 | KCNA5 | c.136C>G (p.Pro46Ala)
| |
12 | g.5044283C>T | CA383461968 | KCNA5 | c.136C>T (p.Pro46Ser)
| dbSNP gnomAD v4 |
12 | g.5044284C>A | CA383461971 | KCNA5 | c.137C>A (p.Pro46His)
| gnomAD v4 |
12 | g.5044284C>G | CA383461969 | KCNA5 | c.137C>G (p.Pro46Arg)
| |
12 | g.5044284C>T | CA383461970 | KCNA5 | c.137C>T (p.Pro46Leu)
| gnomAD v4 |
12 | g.5044285C>A | CA478094911 | KCNA5 | c.138C>A (p.Pro46=)
| gnomAD v4 |
12 | g.5044285C= | CA2013430574 | KCNA5 | c.138C= (p.Pro46=)
| |
12 | g.5044285C>G | CA478094909 | KCNA5 | c.138C>G (p.Pro46=)
| gnomAD v4 |
12 | g.5044285C>T | CA478094910 | KCNA5 | c.138C>T (p.Pro46=)
| dbSNP gnomAD v4 |
12 | g.5044286A>C | CA383461972 | KCNA5 | c.139A>C (p.Lys47Gln)
| |
12 | g.5044286A>G | CA383461973 | KCNA5 | c.139A>G (p.Lys47Glu)
| gnomAD v4 |
12 | g.5044286A>T | CA383461974 | KCNA5 | c.139A>T (p.Lys47Ter)
| |
12 | g.5044287A= | CA2013430575 | KCNA5 | c.140A= (p.Lys47=)
| |
12 | g.5044287A>C | CA383461975 | KCNA5 | c.140A>C (p.Lys47Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044287A>G | CA10633067 | KCNA5 | c.140A>G (p.Lys47Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044287A>T | CA383461976 | KCNA5 | c.140A>T (p.Lys47Met)
| |
12 | g.5044288G>A | CA478094912 | KCNA5 | c.141G>A (p.Lys47=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044288G>C | CA383461977 | KCNA5 | c.141G>C (p.Lys47Asn)
| gnomAD v4 |
12 | g.5044288G= | CA2013430576 | KCNA5 | c.141G= (p.Lys47=)
| |
12 | g.5044288G>T | CA383461978 | KCNA5 | c.141G>T (p.Lys47Asn)
| gnomAD v4 |
12 | g.5044289dup | CA2617209885 | KCNA5 | c.142dup (p.Glu48GlyfsTer?)
| gnomAD v4 |
12 | g.5044289G>A | CA383461979 | KCNA5 | c.142G>A (p.Glu48Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044289G>C | CA383461980 | KCNA5 | c.142G>C (p.Glu48Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044289G= | CA2013430577 | KCNA5 | c.142G= (p.Glu48=)
| |
12 | g.5044289G>T | CA383461981 | KCNA5 | c.142G>T (p.Glu48Ter)
| gnomAD v4 |
12 | g.5044290A= | CA2013430578 | KCNA5 | c.143A= (p.Glu48=)
| |
12 | g.5044290A>C | CA383461982 | KCNA5 | c.143A>C (p.Glu48Ala)
| |
12 | g.5044290A>G | CA151380 | KCNA5 | c.143A>G (p.Glu48Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044290A>T | CA383461983 | KCNA5 | c.143A>T (p.Glu48Val)
| |
12 | g.5044291G>A | CA478094916 | KCNA5 | c.144G>A (p.Glu48=)
| gnomAD v4 |
12 | g.5044291G>C | CA6399546 | KCNA5 | c.144G>C (p.Glu48Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044291G= | CA2013430579 | KCNA5 | c.144G= (p.Glu48=)
| |
12 | g.5044291G>T | CA383461984 | KCNA5 | c.144G>T (p.Glu48Asp)
| gnomAD v4 |
12 | g.5044292C>A | CA383461985 | KCNA5 | c.145C>A (p.Pro49Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044292C= | CA2013430580 | KCNA5 | c.145C= (p.Pro49=)
| |
12 | g.5044292C>G | CA383461987 | KCNA5 | c.145C>G (p.Pro49Ala)
| |
12 | g.5044292C>T | CA383461986 | KCNA5 | c.145C>T (p.Pro49Ser)
| dbSNP gnomAD v4 |