12 | g.5044151_5044189del | CA2617209874 | KCNA5 | c.4_42del (p.Glu2_Met14del)
| gnomAD v4 |
12 | g.5044151G>A | CA383461700 | KCNA5 | c.4G>A (p.Glu2Lys)
| |
12 | g.5044151G>C | CA383461701 | KCNA5 | c.4G>C (p.Glu2Gln)
| gnomAD v4 |
12 | g.5044151G>T | CA383461702 | KCNA5 | c.4G>T (p.Glu2Ter)
| gnomAD v4 |
12 | g.5044152A>C | CA383461703 | KCNA5 | c.5A>C (p.Glu2Ala)
| |
12 | g.5044152A>G | CA383461704 | KCNA5 | c.5A>G (p.Glu2Gly)
| |
12 | g.5044152A>T | CA383461705 | KCNA5 | c.5A>T (p.Glu2Val)
| |
12 | g.5044153G>A | CA478094427 | KCNA5 | c.6G>A (p.Glu2=)
| |
12 | g.5044153G>C | CA383461706 | KCNA5 | c.6G>C (p.Glu2Asp)
| |
12 | g.5044153G>T | CA383461707 | KCNA5 | c.6G>T (p.Glu2Asp)
| gnomAD v4 |
12 | g.5044154A= | CA2013430499 | KCNA5 | c.7A= (p.Ile3=)
| |
12 | g.5044154A>C | CA383461708 | KCNA5 | c.7A>C (p.Ile3Leu)
| |
12 | g.5044154A>G | CA231866720 | KCNA5 | c.7A>G (p.Ile3Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044154A>T | CA383461709 | KCNA5 | c.7A>T (p.Ile3Phe)
| gnomAD v4 |
12 | g.5044155T>A | CA383461712 | KCNA5 | c.8T>A (p.Ile3Asn)
| gnomAD v4 |
12 | g.5044155T>C | CA383461711 | KCNA5 | c.8T>C (p.Ile3Thr)
| |
12 | g.5044155T>G | CA383461710 | KCNA5 | c.8T>G (p.Ile3Ser)
| |
12 | g.5044156C>A | CA478094433 | KCNA5 | c.9C>A (p.Ile3=)
| gnomAD v4 |
12 | g.5044156C= | CA2013430500 | KCNA5 | c.9C= (p.Ile3=)
| |
12 | g.5044156C>G | CA383461713 | KCNA5 | c.9C>G (p.Ile3Met)
| |
12 | g.5044156C>T | CA478094431 | KCNA5 | c.9C>T (p.Ile3=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044157G>A | CA383461714 | KCNA5 | c.10G>A (p.Ala4Thr)
| gnomAD v4 |
12 | g.5044157G>C | CA383461715 | KCNA5 | c.10G>C (p.Ala4Pro)
| |
12 | g.5044157G= | CA2013430501 | KCNA5 | c.10G= (p.Ala4=)
| |
12 | g.5044157G>T | CA383461716 | KCNA5 | c.10G>T (p.Ala4Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044158C>A | CA383461717 | KCNA5 | c.11C>A (p.Ala4Asp)
| gnomAD v4 |
12 | g.5044158C= | CA2013430502 | KCNA5 | c.11C= (p.Ala4=)
| |
12 | g.5044158C>G | CA383461718 | KCNA5 | c.11C>G (p.Ala4Gly)
| |
12 | g.5044158C>T | CA383461719 | KCNA5 | c.11C>T (p.Ala4Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044159C>A | CA478094434 | KCNA5 | c.12C>A (p.Ala4=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044159C= | CA2013430503 | KCNA5 | c.12C= (p.Ala4=)
| |
12 | g.5044159C>G | CA478094435 | KCNA5 | c.12C>G (p.Ala4=)
| |
12 | g.5044159C>T | CA478094436 | KCNA5 | c.12C>T (p.Ala4=)
| gnomAD v4 |
12 | g.5044160C>A | CA383461720 | KCNA5 | c.13C>A (p.Leu5Met)
| gnomAD v4 |
12 | g.5044160C>G | CA383461721 | KCNA5 | c.13C>G (p.Leu5Val)
| |
12 | g.5044160C>T | CA478094437 | KCNA5 | c.13C>T (p.Leu5=)
| gnomAD v4 |
12 | g.5044161T>A | CA383461722 | KCNA5 | c.14T>A (p.Leu5Gln)
| |
12 | g.5044161T>C | CA383461723 | KCNA5 | c.14T>C (p.Leu5Pro)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044161T>G | CA383461724 | KCNA5 | c.14T>G (p.Leu5Arg)
| gnomAD v4 |
12 | g.5044161T= | CA2013430504 | KCNA5 | c.14T= (p.Leu5=)
| |
12 | g.5044162G>A | CA478094444 | KCNA5 | c.15G>A (p.Leu5=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044162G>C | CA478094445 | KCNA5 | c.15G>C (p.Leu5=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044162G= | CA2013430505 | KCNA5 | c.15G= (p.Leu5=)
| |
12 | g.5044162G>T | CA478094443 | KCNA5 | c.15G>T (p.Leu5=)
| gnomAD v4 |
12 | g.5044163G>A | CA383461727 | KCNA5 | c.16G>A (p.Val6Met)
| gnomAD v4 |
12 | g.5044163G>C | CA383461726 | KCNA5 | c.16G>C (p.Val6Leu)
| |
12 | g.5044163G>T | CA383461725 | KCNA5 | c.16G>T (p.Val6Leu)
| gnomAD v4 |
12 | g.5044164T>A | CA383461728 | KCNA5 | c.17T>A (p.Val6Glu)
| |
12 | g.5044164T>C | CA383461729 | KCNA5 | c.17T>C (p.Val6Ala)
| gnomAD v4 |
12 | g.5044164T>G | CA383461730 | KCNA5 | c.17T>G (p.Val6Gly)
| |
12 | g.5044165G>A | CA231866722 | KCNA5 | c.18G>A (p.Val6=)
| dbSNP gnomAD v4 |
12 | g.5044165G>C | CA478094449 | KCNA5 | c.18G>C (p.Val6=)
| |
12 | g.5044165G= | CA2013430506 | KCNA5 | c.18G= (p.Val6=)
| |
12 | g.5044165G>T | CA478094450 | KCNA5 | c.18G>T (p.Val6=)
| gnomAD v4 |
12 | g.5044166C>A | CA383461731 | KCNA5 | c.19C>A (p.Pro7Thr)
| gnomAD v4 |
12 | g.5044166C= | CA2013430507 | KCNA5 | c.19C= (p.Pro7=)
| |
12 | g.5044166C>G | CA383461732 | KCNA5 | c.19C>G (p.Pro7Ala)
| gnomAD v4 |
12 | g.5044166C>T | CA383461733 | KCNA5 | c.19C>T (p.Pro7Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044169del | CA2617209878 | KCNA5 | c.22del (p.Leu8TrpfsTer7)
| gnomAD v4 |
12 | g.5044167C>A | CA383461736 | KCNA5 | c.20C>A (p.Pro7His)
| gnomAD v4 |
12 | g.5044167C= | CA2013430508 | KCNA5 | c.20C= (p.Pro7=)
| |
12 | g.5044167C>G | CA383461734 | KCNA5 | c.20C>G (p.Pro7Arg)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044167C>T | CA383461735 | KCNA5 | c.20C>T (p.Pro7Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044168C>A | CA478094453 | KCNA5 | c.21C>A (p.Pro7=)
| gnomAD v4 |
12 | g.5044168C>G | CA478094455 | KCNA5 | c.21C>G (p.Pro7=)
| |
12 | g.5044168C>T | CA478094457 | KCNA5 | c.21C>T (p.Pro7=)
| gnomAD v4 |
12 | g.5044169C>A | CA383461737 | KCNA5 | c.22C>A (p.Leu8Met)
| gnomAD v4 |
12 | g.5044169C>G | CA383461738 | KCNA5 | c.22C>G (p.Leu8Val)
| |
12 | g.5044169C>T | CA478094459 | KCNA5 | c.22C>T (p.Leu8=)
| |
12 | g.5044170del | CA2617209879 | KCNA5 | c.23del (p.Leu8ArgfsTer7)
| gnomAD v4 |
12 | g.5044170T>A | CA383461739 | KCNA5 | c.23T>A (p.Leu8Gln)
| gnomAD v4 |
12 | g.5044170T>C | CA383461740 | KCNA5 | c.23T>C (p.Leu8Pro)
| dbSNP gnomAD v4 |
12 | g.5044170T>G | CA383461741 | KCNA5 | c.23T>G (p.Leu8Arg)
| |
12 | g.5044170T= | CA2013430509 | KCNA5 | c.23T= (p.Leu8=)
| |
12 | g.5044171G>A | CA478094463 | KCNA5 | c.24G>A (p.Leu8=)
| gnomAD v4 |
12 | g.5044171G>C | CA478094464 | KCNA5 | c.24G>C (p.Leu8=)
| |
12 | g.5044171G>T | CA478094466 | KCNA5 | c.24G>T (p.Leu8=)
| gnomAD v4 |
12 | g.5044172del | CA2617209880 | KCNA5 | c.25del (p.Glu9ArgfsTer6)
| gnomAD v4 |
12 | g.5044172G>A | CA383461742 | KCNA5 | c.25G>A (p.Glu9Lys)
| |
12 | g.5044172G>C | CA383461744 | KCNA5 | c.25G>C (p.Glu9Gln)
| |
12 | g.5044172G>T | CA383461743 | KCNA5 | c.25G>T (p.Glu9Ter)
| gnomAD v4 |
12 | g.5044173A>C | CA383461745 | KCNA5 | c.26A>C (p.Glu9Ala)
| |
12 | g.5044173A>G | CA383461746 | KCNA5 | c.26A>G (p.Glu9Gly)
| gnomAD v4 |
12 | g.5044173A>T | CA383461747 | KCNA5 | c.26A>T (p.Glu9Val)
| gnomAD v4 |
12 | g.5044174G>A | CA478094469 | KCNA5 | c.27G>A (p.Glu9=)
| |
12 | g.5044174G>C | CA383461748 | KCNA5 | c.27G>C (p.Glu9Asp)
| |
12 | g.5044174G>T | CA383461749 | KCNA5 | c.27G>T (p.Glu9Asp)
| gnomAD v4 |
12 | g.5044175A= | CA2013430510 | KCNA5 | c.28A= (p.Asn10=)
| |
12 | g.5044175A>C | CA383461750 | KCNA5 | c.28A>C (p.Asn10His)
| |
12 | g.5044175A>G | CA231866726 | KCNA5 | c.28A>G (p.Asn10Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044175A>T | CA383461751 | KCNA5 | c.28A>T (p.Asn10Tyr)
| |
12 | g.5044176A>C | CA383461752 | KCNA5 | c.29A>C (p.Asn10Thr)
| |
12 | g.5044176A>G | CA383461753 | KCNA5 | c.29A>G (p.Asn10Ser)
| gnomAD v4 |
12 | g.5044176A>T | CA383461754 | KCNA5 | c.29A>T (p.Asn10Ile)
| |
12 | g.5044177C>A | CA383461755 | KCNA5 | c.30C>A (p.Asn10Lys)
| |
12 | g.5044177C= | CA2013430511 | KCNA5 | c.30C= (p.Asn10=)
| |
12 | g.5044177C>G | CA383461756 | KCNA5 | c.30C>G (p.Asn10Lys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5044177C>T | CA478094475 | KCNA5 | c.30C>T (p.Asn10=)
| gnomAD v4 |
12 | g.5044180_5044182dup | CA2580615117 | KCNA5 | c.33_35dup (p.Gly12_Ala13insGly)
| ClinVar dbSNP gnomAD v4 |
12 | g.5044178G>A | CA383461757 | KCNA5 | c.31G>A (p.Gly11Ser)
| gnomAD v4 |
12 | g.5044178G>C | CA383461759 | KCNA5 | c.31G>C (p.Gly11Arg)
| dbSNP gnomAD v2 |
12 | g.5044178G= | CA2013430512 | KCNA5 | c.31G= (p.Gly11=)
| |
12 | g.5044178G>T | CA383461758 | KCNA5 | c.31G>T (p.Gly11Cys)
| gnomAD v4 |
12 | g.5044178_5044180delinsGGC | CA2013430513 | KCNA5 | c.31_33delinsGGC (p.Gly11=)
| |
12 | g.5044179G>A | CA383461760 | KCNA5 | c.32G>A (p.Gly11Asp)
| gnomAD v4 |
12 | g.5044179G>C | CA383461762 | KCNA5 | c.32G>C (p.Gly11Ala)
| |
12 | g.5044179G>T | CA383461761 | KCNA5 | c.32G>T (p.Gly11Val)
| gnomAD v4 |
12 | g.5044180_5044181del | CA603482585 | KCNA5 | c.33_34del (p.Gly12CysfsTer9)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044180C>A | CA478094480 | KCNA5 | c.33C>A (p.Gly11=)
| gnomAD v4 |
12 | g.5044180C>G | CA478094481 | KCNA5 | c.33C>G (p.Gly11=)
| gnomAD v4 |
12 | g.5044180C>T | CA478094482 | KCNA5 | c.33C>T (p.Gly11=)
| gnomAD v4 |
12 | g.5044181G>A | CA383461763 | KCNA5 | c.34G>A (p.Gly12Ser)
| gnomAD v4 |
12 | g.5044181G>C | CA383461764 | KCNA5 | c.34G>C (p.Gly12Arg)
| |
12 | g.5044181G>T | CA383461765 | KCNA5 | c.34G>T (p.Gly12Cys)
| gnomAD v4 |
12 | g.5044182G>A | CA6399530 | KCNA5 | c.35G>A (p.Gly12Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5044182G>C | CA383461766 | KCNA5 | c.35G>C (p.Gly12Ala)
| |
12 | g.5044182G= | CA2013430514 | KCNA5 | c.35G= (p.Gly12=)
| |
12 | g.5044182G>T | CA383461767 | KCNA5 | c.35G>T (p.Gly12Val)
| dbSNP gnomAD v4 |
12 | g.5044183T>A | CA478094486 | KCNA5 | c.36T>A (p.Gly12=)
| |
12 | g.5044183T>C | CA10633066 | KCNA5 | c.36T>C (p.Gly12=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044183T>G | CA478094487 | KCNA5 | c.36T>G (p.Gly12=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044183T= | CA2013430515 | KCNA5 | c.36T= (p.Gly12=)
| |
12 | g.5044184G>A | CA383461768 | KCNA5 | c.37G>A (p.Ala13Thr)
| dbSNP gnomAD v4 |
12 | g.5044184G>C | CA383461769 | KCNA5 | c.37G>C (p.Ala13Pro)
| |
12 | g.5044184G>T | CA383461770 | KCNA5 | c.37G>T (p.Ala13Ser)
| gnomAD v4 |
12 | g.5044185C>A | CA383461771 | KCNA5 | c.38C>A (p.Ala13Asp)
| gnomAD v4 |
12 | g.5044185C>G | CA383461772 | KCNA5 | c.38C>G (p.Ala13Gly)
| |
12 | g.5044185C>T | CA383461773 | KCNA5 | c.38C>T (p.Ala13Val)
| gnomAD v4 |
12 | g.5044186C>A | CA478094490 | KCNA5 | c.39C>A (p.Ala13=)
| gnomAD v4 |
12 | g.5044186C= | CA2013430516 | KCNA5 | c.39C= (p.Ala13=)
| |
12 | g.5044186C>G | CA478094492 | KCNA5 | c.39C>G (p.Ala13=)
| |
12 | g.5044186C>T | CA478094493 | KCNA5 | c.39C>T (p.Ala13=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044187A= | CA2013430517 | KCNA5 | c.40A= (p.Met14=)
| |
12 | g.5044187A>C | CA383461774 | KCNA5 | c.40A>C (p.Met14Leu)
| |
12 | g.5044187A>G | CA383461776 | KCNA5 | c.40A>G (p.Met14Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044187A>T | CA383461775 | KCNA5 | c.40A>T (p.Met14Leu)
| |
12 | g.5044187dup | CA2617209881 | KCNA5 | c.40dup (p.Met14AsnfsTer8)
| gnomAD v4 |
12 | g.5044188T>A | CA383461777 | KCNA5 | c.41T>A (p.Met14Lys)
| gnomAD v4 |
12 | g.5044188T>C | CA383461778 | KCNA5 | c.41T>C (p.Met14Thr)
| |
12 | g.5044188T>G | CA231866737 | KCNA5 | c.41T>G (p.Met14Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044188T= | CA2013430518 | KCNA5 | c.41T= (p.Met14=)
| |
12 | g.5044188_5044189delinsTG | CA2013430519 | KCNA5 | c.41_42delinsTG (p.Met14=)
| |
12 | g.5044189del | CA944255789 | KCNA5 | c.42del (p.Met14IlefsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5044189G>A | CA383461779 | KCNA5 | c.42G>A (p.Met14Ile)
| gnomAD v4 |
12 | g.5044189G>C | CA383461780 | KCNA5 | c.42G>C (p.Met14Ile)
| |
12 | g.5044189G>T | CA383461781 | KCNA5 | c.42G>T (p.Met14Ile)
| gnomAD v4 |
12 | g.5044190A= | CA2013430520 | KCNA5 | c.43A= (p.Thr15=)
| |
12 | g.5044190A>C | CA383461782 | KCNA5 | c.43A>C (p.Thr15Pro)
| |
12 | g.5044190A>G | CA231866740 | KCNA5 | c.43A>G (p.Thr15Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5044190A>T | CA383461783 | KCNA5 | c.43A>T (p.Thr15Ser)
| |
12 | g.5044191C>A | CA383461786 | KCNA5 | c.44C>A (p.Thr15Asn)
| gnomAD v4 |
12 | g.5044191C= | CA2013430521 | KCNA5 | c.44C= (p.Thr15=)
| |
12 | g.5044191C>G | CA383461785 | KCNA5 | c.44C>G (p.Thr15Ser)
| |
12 | g.5044191C>T | CA383461784 | KCNA5 | c.44C>T (p.Thr15Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
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 |