17 | g.61590574T>A | CA400783639 | NACA2 | c.607A>T (p.Ser203Cys)
| |
17 | g.61590574T>C | CA400783640 | NACA2 | c.607A>G (p.Ser203Gly)
| |
17 | g.61590574T>G | CA400783641 | NACA2 | c.607A>C (p.Ser203Arg)
| |
17 | g.61590578_61590580del | CA2639152780 | NACA2 | c.605_607del (p.Asn202del)
| gnomAD v4 |
17 | g.61590575G>A | CA501351168 | NACA2 | c.606C>T (p.Asn202=)
| |
17 | g.61590575G>C | CA400783642 | NACA2 | c.606C>G (p.Asn202Lys)
| |
17 | g.61590575G= | CA2269090890 | NACA2 | c.606C= (p.Asn202=)
| |
17 | g.61590575G>T | CA400783643 | NACA2 | c.606C>A (p.Asn202Lys)
| |
17 | g.61590576T>A | CA400783644 | NACA2 | c.605A>T (p.Asn202Ile)
| |
17 | g.61590576T>C | CA400783645 | NACA2 | c.605A>G (p.Asn202Ser)
| |
17 | g.61590576T>G | CA400783646 | NACA2 | c.605A>C (p.Asn202Thr)
| |
17 | g.61590577dup | CA2269090891 | NACA2 | c.605dup (p.Asn202LysfsTer3)
| dbSNP |
17 | g.61590577T>A | CA400783648 | NACA2 | c.604A>T (p.Asn202Tyr)
| |
17 | g.61590577T>C | CA400783649 | NACA2 | c.604A>G (p.Asn202Asp)
| dbSNP |
17 | g.61590577T>G | CA400783647 | NACA2 | c.604A>C (p.Asn202His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590577T= | CA2269090892 | NACA2 | c.604A= (p.Asn202=)
| |
17 | g.61590578G>A | CA501351172 | NACA2 | c.603C>T (p.Asn201=)
| dbSNP |
17 | g.61590578G>C | CA400783650 | NACA2 | c.603C>G (p.Asn201Lys)
| gnomAD v4 |
17 | g.61590578G= | CA2269090893 | NACA2 | c.603C= (p.Asn201=)
| |
17 | g.61590578G>T | CA400783651 | NACA2 | c.603C>A (p.Asn201Lys)
| |
17 | g.61590579T>A | CA400783652 | NACA2 | c.602A>T (p.Asn201Ile)
| gnomAD v4 |
17 | g.61590579T>C | CA400783653 | NACA2 | c.602A>G (p.Asn201Ser)
| COSMIC |
17 | g.61590579T>G | CA400783654 | NACA2 | c.602A>C (p.Asn201Thr)
| |
17 | g.61590582_61590584del | CA2558519234 | NACA2 | c.600_602del (p.Lys200del)
| |
17 | g.61590580T>A | CA400783655 | NACA2 | c.601A>T (p.Asn201Tyr)
| |
17 | g.61590580T>C | CA400783656 | NACA2 | c.601A>G (p.Asn201Asp)
| |
17 | g.61590580T>G | CA400783657 | NACA2 | c.601A>C (p.Asn201His)
| |
17 | g.61590581C>A | CA400783658 | NACA2 | c.600G>T (p.Lys200Asn)
| |
17 | g.61590581C>G | CA400783659 | NACA2 | c.600G>C (p.Lys200Asn)
| gnomAD v4 |
17 | g.61590581C>T | CA501351182 | NACA2 | c.600G>A (p.Lys200=)
| |
17 | g.61590582T>A | CA400783660 | NACA2 | c.599A>T (p.Lys200Met)
| |
17 | g.61590582T>C | CA400783661 | NACA2 | c.599A>G (p.Lys200Arg)
| dbSNP gnomAD v2 |
17 | g.61590582T>G | CA400783662 | NACA2 | c.599A>C (p.Lys200Thr)
| |
17 | g.61590582T= | CA2269090894 | NACA2 | c.599A= (p.Lys200=)
| |
17 | g.61590583T>A | CA400783665 | NACA2 | c.598A>T (p.Lys200Ter)
| |
17 | g.61590583T>C | CA400783664 | NACA2 | c.598A>G (p.Lys200Glu)
| |
17 | g.61590583T>G | CA400783663 | NACA2 | c.598A>C (p.Lys200Gln)
| |
17 | g.61590584C>A | CA501351184 | NACA2 | c.597G>T (p.Leu199=)
| |
17 | g.61590584C= | CA2269090895 | NACA2 | c.597G= (p.Leu199=)
| |
17 | g.61590584C>G | CA501351186 | NACA2 | c.597G>C (p.Leu199=)
| |
17 | g.61590584C>T | CA501351188 | NACA2 | c.597G>A (p.Leu199=)
| dbSNP gnomAD v4 |
17 | g.61590585A= | CA2269090896 | NACA2 | c.596T= (p.Leu199=)
| |
17 | g.61590585A>C | CA400783666 | NACA2 | c.596T>G (p.Leu199Arg)
| |
17 | g.61590585A>G | CA400783667 | NACA2 | c.596T>C (p.Leu199Pro)
| gnomAD v4 |
17 | g.61590585A>T | CA8690167 | NACA2 | c.596T>A (p.Leu199Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590586G>A | CA501351191 | NACA2 | c.595C>T (p.Leu199=)
| |
17 | g.61590586G>C | CA400783668 | NACA2 | c.595C>G (p.Leu199Val)
| gnomAD v4 |
17 | g.61590586G>T | CA400783669 | NACA2 | c.595C>A (p.Leu199Met)
| |
17 | g.61590587A= | CA2269090897 | NACA2 | c.594T= (p.Ala198=)
| |
17 | g.61590587A>C | CA8690168 | NACA2 | c.594T>G (p.Ala198=)
| dbSNP ExAC gnomAD v2 |
17 | g.61590587A>G | CA292793820 | NACA2 | c.594T>C (p.Ala198=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590587A>T | CA501351196 | NACA2 | c.594T>A (p.Ala198=)
| |
17 | g.61590588G>A | CA400783670 | NACA2 | c.593C>T (p.Ala198Val)
| |
17 | g.61590588G>C | CA400783671 | NACA2 | c.593C>G (p.Ala198Gly)
| |
17 | g.61590588G>T | CA400783672 | NACA2 | c.593C>A (p.Ala198Asp)
| |
17 | g.61590589C>A | CA400783673 | NACA2 | c.592G>T (p.Ala198Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590589C= | CA2269090898 | NACA2 | c.592G= (p.Ala198=)
| |
17 | g.61590589C>G | CA400783674 | NACA2 | c.592G>C (p.Ala198Pro)
| gnomAD v4 |
17 | g.61590589C>T | CA8690169 | NACA2 | c.592G>A (p.Ala198Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.61590590T>A | CA501351200 | NACA2 | c.591A>T (p.Arg197=)
| |
17 | g.61590590T>C | CA501351202 | NACA2 | c.591A>G (p.Arg197=)
| gnomAD v4 |
17 | g.61590590T>G | CA501351205 | NACA2 | c.591A>C (p.Arg197=)
| |
17 | g.61590591C>A | CA400783675 | NACA2 | c.590G>T (p.Arg197Leu)
| |
17 | g.61590591C= | CA2269090899 | NACA2 | c.590G= (p.Arg197=)
| |
17 | g.61590591C>G | CA400783676 | NACA2 | c.590G>C (p.Arg197Pro)
| |
17 | g.61590591C>T | CA8690170 | NACA2 | c.590G>A (p.Arg197Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590592G>A | CA8690171 | NACA2 | c.589C>T (p.Arg197Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590592G>C | CA400783677 | NACA2 | c.589C>G (p.Arg197Gly)
| gnomAD v4 |
17 | g.61590592G= | CA2269090900 | NACA2 | c.589C= (p.Arg197=)
| |
17 | g.61590592G>T | CA501351207 | NACA2 | c.589C>A (p.Arg197=)
| |
17 | g.61590593G>A | CA292793821 | NACA2 | c.588C>T (p.Val196=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590593G>C | CA501351209 | NACA2 | c.588C>G (p.Val196=)
| |
17 | g.61590593G= | CA2269090901 | NACA2 | c.588C= (p.Val196=)
| |
17 | g.61590593G>T | CA501351211 | NACA2 | c.588C>A (p.Val196=)
| |
17 | g.61590594A= | CA2269090902 | NACA2 | c.587T= (p.Val196=)
| |
17 | g.61590594A>C | CA400783678 | NACA2 | c.587T>G (p.Val196Gly)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.61590594A>G | CA8690172 | NACA2 | c.587T>C (p.Val196Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590594A>T | CA400783679 | NACA2 | c.587T>A (p.Val196Asp)
| |
17 | g.61590595C>A | CA400783680 | NACA2 | c.586G>T (p.Val196Phe)
| |
17 | g.61590595C>G | CA400783681 | NACA2 | c.586G>C (p.Val196Leu)
| |
17 | g.61590595C>T | CA400783682 | NACA2 | c.586G>A (p.Val196Ile)
| |
17 | g.61590596T>A | CA501351214 | NACA2 | c.585A>T (p.Ala195=)
| |
17 | g.61590596T>C | CA501351215 | NACA2 | c.585A>G (p.Ala195=)
| |
17 | g.61590596T>G | CA501351216 | NACA2 | c.585A>C (p.Ala195=)
| |
17 | g.61590597G>A | CA400783683 | NACA2 | c.584C>T (p.Ala195Val)
| |
17 | g.61590597G>C | CA400783684 | NACA2 | c.584C>G (p.Ala195Gly)
| |
17 | g.61590597G>T | CA400783685 | NACA2 | c.584C>A (p.Ala195Glu)
| |
17 | g.61590598C>A | CA400783688 | NACA2 | c.583G>T (p.Ala195Ser)
| |
17 | g.61590598C>G | CA400783687 | NACA2 | c.583G>C (p.Ala195Pro)
| |
17 | g.61590598C>T | CA400783686 | NACA2 | c.583G>A (p.Ala195Thr)
| |
17 | g.61590599C>A | CA400783689 | NACA2 | c.582G>T (p.Lys194Asn)
| |
17 | g.61590599C= | CA2269090903 | NACA2 | c.582G= (p.Lys194=)
| |
17 | g.61590599C>G | CA400783690 | NACA2 | c.582G>C (p.Lys194Asn)
| |
17 | g.61590599C>T | CA8690173 | NACA2 | c.582G>A (p.Lys194=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590600T>A | CA400783691 | NACA2 | c.581A>T (p.Lys194Met)
| |
17 | g.61590600T>C | CA400783692 | NACA2 | c.581A>G (p.Lys194Arg)
| |
17 | g.61590600T>G | CA400783693 | NACA2 | c.581A>C (p.Lys194Thr)
| |
17 | g.61590601T>A | CA400783694 | NACA2 | c.580A>T (p.Lys194Ter)
| |
17 | g.61590601T>C | CA400783695 | NACA2 | c.580A>G (p.Lys194Glu)
| |
17 | g.61590601T>G | CA400783696 | NACA2 | c.580A>C (p.Lys194Gln)
| |
17 | g.61590602T>A | CA501351224 | NACA2 | c.579A>T (p.Ala193=)
| |
17 | g.61590602T>C | CA501351223 | NACA2 | c.579A>G (p.Ala193=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590602T>G | CA501351222 | NACA2 | c.579A>C (p.Ala193=)
| |
17 | g.61590602T= | CA2269090904 | NACA2 | c.579A= (p.Ala193=)
| |
17 | g.61590603G>A | CA400783697 | NACA2 | c.578C>T (p.Ala193Val)
| |
17 | g.61590603G>C | CA292793822 | NACA2 | c.578C>G (p.Ala193Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590603G= | CA2269090905 | NACA2 | c.578C= (p.Ala193=)
| |
17 | g.61590603G>T | CA400783698 | NACA2 | c.578C>A (p.Ala193Glu)
| dbSNP |
17 | g.61590604C>A | CA8690174 | NACA2 | c.577G>T (p.Ala193Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590604C= | CA2269090906 | NACA2 | c.577G= (p.Ala193=)
| |
17 | g.61590604C>G | CA400783700 | NACA2 | c.577G>C (p.Ala193Pro)
| |
17 | g.61590604C>T | CA400783699 | NACA2 | c.577G>A (p.Ala193Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590605T>A | CA400783701 | NACA2 | c.576A>T (p.Arg192Ser)
| |
17 | g.61590605T>C | CA501351227 | NACA2 | c.576A>G (p.Arg192=)
| |
17 | g.61590605T>G | CA400783702 | NACA2 | c.576A>C (p.Arg192Ser)
| |
17 | g.61590606C>A | CA400783703 | NACA2 | c.575G>T (p.Arg192Ile)
| |
17 | g.61590606C= | CA2269090907 | NACA2 | c.575G= (p.Arg192=)
| |
17 | g.61590606C>G | CA400783704 | NACA2 | c.575G>C (p.Arg192Thr)
| |
17 | g.61590606C>T | CA8690175 | NACA2 | c.575G>A (p.Arg192Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590607T>A | CA400783705 | NACA2 | c.574A>T (p.Arg192Ter)
| COSMIC |
17 | g.61590607T>C | CA400783706 | NACA2 | c.574A>G (p.Arg192Gly)
| |
17 | g.61590607T>G | CA501351236 | NACA2 | c.574A>C (p.Arg192=)
| |
17 | g.61590608C>A | CA8690176 | NACA2 | c.573G>T (p.Ser191=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.61590608C= | CA2269090908 | NACA2 | c.573G= (p.Ser191=)
| |
17 | g.61590608C>G | CA501351237 | NACA2 | c.573G>C (p.Ser191=)
| |
17 | g.61590608C>T | CA501351238 | NACA2 | c.573G>A (p.Ser191=)
| dbSNP |
17 | g.61590609G>A | CA8690177 | NACA2 | c.572C>T (p.Ser191Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.61590609G>C | CA400783707 | NACA2 | c.572C>G (p.Ser191Trp)
| |
17 | g.61590609G= | CA2269090909 | NACA2 | c.572C= (p.Ser191=)
| |
17 | g.61590609G>T | CA400783708 | NACA2 | c.572C>A (p.Ser191Ter)
| |
17 | g.61590610A>C | CA400783709 | NACA2 | c.571T>G (p.Ser191Ala)
| |
17 | g.61590610A>G | CA400783710 | NACA2 | c.571T>C (p.Ser191Pro)
| COSMIC |
17 | g.61590610A>T | CA400783711 | NACA2 | c.571T>A (p.Ser191Thr)
| |
17 | g.61590611C>A | CA501351243 | NACA2 | c.570G>T (p.Val190=)
| |
17 | g.61590611C>G | CA501351245 | NACA2 | c.570G>C (p.Val190=)
| |
17 | g.61590611C>T | CA501351247 | NACA2 | c.570G>A (p.Val190=)
| |
17 | g.61590612A>C | CA400783712 | NACA2 | c.569T>G (p.Val190Gly)
| |
17 | g.61590612A>G | CA400783713 | NACA2 | c.569T>C (p.Val190Ala)
| |
17 | g.61590612A>T | CA400783714 | NACA2 | c.569T>A (p.Val190Glu)
| |
17 | g.61590613C>A | CA400783715 | NACA2 | c.568G>T (p.Val190Leu)
| |
17 | g.61590613C>G | CA400783716 | NACA2 | c.568G>C (p.Val190Leu)
| |
17 | g.61590613C>T | CA400783717 | NACA2 | c.568G>A (p.Val190Met)
| |
17 | g.61590614A= | CA2269090910 | NACA2 | c.567T= (p.Asn189=)
| |
17 | g.61590614A>C | CA400783719 | NACA2 | c.567T>G (p.Asn189Lys)
| gnomAD v4 |
17 | g.61590614A>G | CA8690178 | NACA2 | c.567T>C (p.Asn189=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.61590614A>T | CA400783718 | NACA2 | c.567T>A (p.Asn189Lys)
| |
17 | g.61590615T>A | CA400783720 | NACA2 | c.566A>T (p.Asn189Ile)
| |
17 | g.61590615T>C | CA400783721 | NACA2 | c.566A>G (p.Asn189Ser)
| |
17 | g.61590615T>G | CA400783722 | NACA2 | c.566A>C (p.Asn189Thr)
| |
17 | g.61590616T>A | CA400783723 | NACA2 | c.565A>T (p.Asn189Tyr)
| |
17 | g.61590616T>C | CA400783724 | NACA2 | c.565A>G (p.Asn189Asp)
| |
17 | g.61590616T>G | CA400783725 | NACA2 | c.565A>C (p.Asn189His)
| |
17 | g.61590617T>A | CA501351254 | NACA2 | c.564A>T (p.Ala188=)
| |
17 | g.61590617T>C | CA501351255 | NACA2 | c.564A>G (p.Ala188=)
| |
17 | g.61590617T>G | CA501351256 | NACA2 | c.564A>C (p.Ala188=)
| |
17 | g.61590618G>A | CA8690179 | NACA2 | c.563C>T (p.Ala188Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590618G>C | CA400783726 | NACA2 | c.563C>G (p.Ala188Gly)
| |
17 | g.61590618G= | CA2269090911 | NACA2 | c.563C= (p.Ala188=)
| |
17 | g.61590618G>T | CA400783727 | NACA2 | c.563C>A (p.Ala188Glu)
| |
17 | g.61590619C>A | CA400783728 | NACA2 | c.562G>T (p.Ala188Ser)
| |
17 | g.61590619C>G | CA400783729 | NACA2 | c.562G>C (p.Ala188Pro)
| |
17 | g.61590619C>T | CA400783730 | NACA2 | c.562G>A (p.Ala188Thr)
| |
17 | g.61590620T>A | CA400783731 | NACA2 | c.561A>T (p.Gln187His)
| |
17 | g.61590620T>C | CA501351152 | NACA2 | c.561A>G (p.Gln187=)
| dbSNP gnomAD v4 |
17 | g.61590620T>G | CA400783732 | NACA2 | c.561A>C (p.Gln187His)
| |
17 | g.61590620T= | CA2269090912 | NACA2 | c.561A= (p.Gln187=)
| |
17 | g.61590621T>A | CA400783733 | NACA2 | c.560A>T (p.Gln187Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590621T>C | CA400783734 | NACA2 | c.560A>G (p.Gln187Arg)
| |
17 | g.61590621T>G | CA400783735 | NACA2 | c.560A>C (p.Gln187Pro)
| |
17 | g.61590621T= | CA2269090913 | NACA2 | c.560A= (p.Gln187=)
| |
17 | g.61590623_61590624del | CA2639152781 | NACA2 | c.559_560del (p.Gln187SerfsTer17)
| gnomAD v4 |
17 | g.61590622G>A | CA400783736 | NACA2 | c.559C>T (p.Gln187Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590622G>C | CA400783737 | NACA2 | c.559C>G (p.Gln187Glu)
| |
17 | g.61590622G= | CA2269090914 | NACA2 | c.559C= (p.Gln187=)
| |
17 | g.61590622G>T | CA400783738 | NACA2 | c.559C>A (p.Gln187Lys)
| |
17 | g.61590623T>A | CA501351159 | NACA2 | c.558A>T (p.Ser186=)
| gnomAD v4 |
17 | g.61590623T>C | CA501351164 | NACA2 | c.558A>G (p.Ser186=)
| |
17 | g.61590623T>G | CA501351165 | NACA2 | c.558A>C (p.Ser186=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590623T= | CA2269090915 | NACA2 | c.558A= (p.Ser186=)
| |
17 | g.61590624G>A | CA8690180 | NACA2 | c.557C>T (p.Ser186Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590624G>C | CA400783739 | NACA2 | c.557C>G (p.Ser186Ter)
| |
17 | g.61590624G= | CA2269090916 | NACA2 | c.557C= (p.Ser186=)
| |
17 | g.61590624G>T | CA400783740 | NACA2 | c.557C>A (p.Ser186Ter)
| |
17 | g.61590625A= | CA2269090917 | NACA2 | c.556T= (p.Ser186=)
| |
17 | g.61590625A>C | CA400783741 | NACA2 | c.556T>G (p.Ser186Ala)
| |
17 | g.61590625A>G | CA400783742 | NACA2 | c.556T>C (p.Ser186Pro)
| |
17 | g.61590625A>T | CA400783743 | NACA2 | c.556T>A (p.Ser186Thr)
| |
17 | g.61590626C>A | CA400783746 | NACA2 | c.555G>T (p.Met185Ile)
| |
17 | g.61590626C>G | CA400783744 | NACA2 | c.555G>C (p.Met185Ile)
| |
17 | g.61590626C>T | CA400783745 | NACA2 | c.555G>A (p.Met185Ile)
| |
17 | g.61590626dup | CA8690181 | NACA2 | c.555dup (p.Ser186ValfsTer19)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.61590627A>C | CA400783747 | NACA2 | c.554T>G (p.Met185Arg)
| |
17 | g.61590627A>G | CA400783748 | NACA2 | c.554T>C (p.Met185Thr)
| |
17 | g.61590627A>T | CA400783749 | NACA2 | c.554T>A (p.Met185Lys)
| |
17 | g.61590628T>A | CA400783750 | NACA2 | c.553A>T (p.Met185Leu)
| |
17 | g.61590628T>C | CA400783751 | NACA2 | c.553A>G (p.Met185Val)
| dbSNP |
17 | g.61590628T>G | CA400783752 | NACA2 | c.553A>C (p.Met185Leu)
| |
17 | g.61590629G>A | CA501351174 | NACA2 | c.552C>T (p.Val184=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590629G>C | CA501351175 | NACA2 | c.552C>G (p.Val184=)
| |
17 | g.61590629G= | CA2269090918 | NACA2 | c.552C= (p.Val184=)
| |
17 | g.61590629G>T | CA501351176 | NACA2 | c.552C>A (p.Val184=)
| |
17 | g.61590630A>C | CA400783753 | NACA2 | c.551T>G (p.Val184Gly)
| |
17 | g.61590630A>G | CA400783754 | NACA2 | c.551T>C (p.Val184Ala)
| |
17 | g.61590630A>T | CA400783755 | NACA2 | c.551T>A (p.Val184Asp)
| |
17 | g.61590631C>A | CA400783756 | NACA2 | c.550G>T (p.Val184Phe)
| |
17 | g.61590631C>G | CA400783757 | NACA2 | c.550G>C (p.Val184Leu)
| gnomAD v4 COSMIC |
17 | g.61590631C>T | CA400783758 | NACA2 | c.550G>A (p.Val184Ile)
| |
17 | g.61590632C>A | CA400783759 | NACA2 | c.549G>T (p.Leu183Phe)
| |
17 | g.61590632C>G | CA400783760 | NACA2 | c.549G>C (p.Leu183Phe)
| |
17 | g.61590632C>T | CA501351189 | NACA2 | c.549G>A (p.Leu183=)
| |
17 | g.61590633A>C | CA400783761 | NACA2 | c.548T>G (p.Leu183Trp)
| |
17 | g.61590633A>G | CA400783763 | NACA2 | c.548T>C (p.Leu183Ser)
| |
17 | g.61590633A>T | CA400783762 | NACA2 | c.548T>A (p.Leu183Ter)
| |
17 | g.61590634A= | CA2269090919 | NACA2 | c.547T= (p.Leu183=)
| |
17 | g.61590634A>C | CA400783764 | NACA2 | c.547T>G (p.Leu183Val)
| |
17 | g.61590634A>G | CA8690182 | NACA2 | c.547T>C (p.Leu183=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590634A>T | CA400783765 | NACA2 | c.547T>A (p.Leu183Met)
| |
17 | g.61590635T>A | CA400783766 | NACA2 | c.546A>T (p.Lys182Asn)
| |
17 | g.61590635T>C | CA501351198 | NACA2 | c.546A>G (p.Lys182=)
| gnomAD v4 |
17 | g.61590635T>G | CA400783767 | NACA2 | c.546A>C (p.Lys182Asn)
| |
17 | g.61590636T>A | CA400783768 | NACA2 | c.545A>T (p.Lys182Ile)
| |
17 | g.61590636T>C | CA400783769 | NACA2 | c.545A>G (p.Lys182Arg)
| |
17 | g.61590636T>G | CA400783770 | NACA2 | c.545A>C (p.Lys182Thr)
| |
17 | g.61590637T>A | CA400783771 | NACA2 | c.544A>T (p.Lys182Ter)
| |
17 | g.61590637T>C | CA292793823 | NACA2 | c.544A>G (p.Lys182Glu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590637T>G | CA400783772 | NACA2 | c.544A>C (p.Lys182Gln)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590637T= | CA2269090920 | NACA2 | c.544A= (p.Lys182=)
| |
17 | g.61590638C>A | CA292793824 | NACA2 | c.543G>T (p.Val181=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590638C= | CA2269090921 | NACA2 | c.543G= (p.Val181=)
| |
17 | g.61590638C>G | CA501351206 | NACA2 | c.543G>C (p.Val181=)
| |
17 | g.61590638C>T | CA292793825 | NACA2 | c.543G>A (p.Val181=)
| dbSNP COSMIC |
17 | g.61590639A>C | CA400783775 | NACA2 | c.542T>G (p.Val181Gly)
| |
17 | g.61590639A>G | CA400783774 | NACA2 | c.542T>C (p.Val181Ala)
| |
17 | g.61590639A>T | CA400783773 | NACA2 | c.542T>A (p.Val181Glu)
| |
17 | g.61590640C>A | CA400783776 | NACA2 | c.541G>T (p.Val181Leu)
| |
17 | g.61590640C= | CA2269090922 | NACA2 | c.541G= (p.Val181=)
| |
17 | g.61590640C>G | CA292793826 | NACA2 | c.541G>C (p.Val181Leu)
| dbSNP gnomAD v4 |
17 | g.61590640C>T | CA8690183 | NACA2 | c.541G>A (p.Val181Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.61590641G>A | CA8690184 | NACA2 | c.540C>T (p.Asp180=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.61590641G>C | CA400783777 | NACA2 | c.540C>G (p.Asp180Glu)
| |
17 | g.61590641G= | CA2269090923 | NACA2 | c.540C= (p.Asp180=)
| |
17 | g.61590641G>T | CA400783778 | NACA2 | c.540C>A (p.Asp180Glu)
| |
17 | g.61590642T>A | CA400783779 | NACA2 | c.539A>T (p.Asp180Val)
| |
17 | g.61590642T>C | CA400783780 | NACA2 | c.539A>G (p.Asp180Gly)
| |
17 | g.61590642T>G | CA400783781 | NACA2 | c.539A>C (p.Asp180Ala)
| |
17 | g.61590643C>A | CA400783782 | NACA2 | c.538G>T (p.Asp180Tyr)
| |
17 | g.61590643C= | CA2269090924 | NACA2 | c.538G= (p.Asp180=)
| |
17 | g.61590643C>G | CA400783783 | NACA2 | c.538G>C (p.Asp180His)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.61590643C>T | CA400783784 | NACA2 | c.538G>A (p.Asp180Asn)
| |
17 | g.61590644T>A | CA400783786 | NACA2 | c.537A>T (p.Lys179Asn)
| |
17 | g.61590644T>C | CA292793827 | NACA2 | c.537A>G (p.Lys179=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590644T>G | CA400783785 | NACA2 | c.537A>C (p.Lys179Asn)
| |
17 | g.61590644T= | CA2269090925 | NACA2 | c.537A= (p.Lys179=)
| |
17 | g.61590646dup | CA8690185 | NACA2 | c.537dup (p.Asp180ArgfsTer25)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590645T>A | CA400783787 | NACA2 | c.536A>T (p.Lys179Ile)
| |
17 | g.61590645T>C | CA400783788 | NACA2 | c.536A>G (p.Lys179Arg)
| |
17 | g.61590645T>G | CA400783789 | NACA2 | c.536A>C (p.Lys179Thr)
| |
17 | g.61590646T>A | CA400783790 | NACA2 | c.535A>T (p.Lys179Ter)
| |
17 | g.61590646T>C | CA400783791 | NACA2 | c.535A>G (p.Lys179Glu)
| gnomAD v4 |
17 | g.61590646T>G | CA400783792 | NACA2 | c.535A>C (p.Lys179Gln)
| |
17 | g.61590647A>C | CA501351231 | NACA2 | c.534T>G (p.Val178=)
| |
17 | g.61590647A>G | CA501351232 | NACA2 | c.534T>C (p.Val178=)
| |
17 | g.61590647A>T | CA501351235 | NACA2 | c.534T>A (p.Val178=)
| |
17 | g.61590648A>C | CA400783793 | NACA2 | c.533T>G (p.Val178Gly)
| |
17 | g.61590648A>G | CA400783794 | NACA2 | c.533T>C (p.Val178Ala)
| |
17 | g.61590648A>T | CA400783795 | NACA2 | c.533T>A (p.Val178Asp)
| |
17 | g.61590649C>A | CA400783796 | NACA2 | c.532G>T (p.Val178Phe)
| |
17 | g.61590649C= | CA2269090926 | NACA2 | c.532G= (p.Val178=)
| |
17 | g.61590649C>G | CA400783797 | NACA2 | c.532G>C (p.Val178Leu)
| |
17 | g.61590649C>T | CA400783798 | NACA2 | c.532G>A (p.Val178Ile)
| dbSNP gnomAD v4 |
17 | g.61590650T>A | CA400783800 | NACA2 | c.531A>T (p.Glu177Asp)
| |
17 | g.61590650T>C | CA501351240 | NACA2 | c.531A>G (p.Glu177=)
| |
17 | g.61590650T>G | CA400783799 | NACA2 | c.531A>C (p.Glu177Asp)
| |
17 | g.61590650T= | CA2269090927 | NACA2 | c.531A= (p.Glu177=)
| |
17 | g.61590651T>A | CA400783801 | NACA2 | c.530A>T (p.Glu177Val)
| |
17 | g.61590651T>C | CA400783802 | NACA2 | c.530A>G (p.Glu177Gly)
| |
17 | g.61590651T>G | CA400783803 | NACA2 | c.530A>C (p.Glu177Ala)
| ClinVar dbSNP |
17 | g.61590651T= | CA2269090929 | NACA2 | c.530A= (p.Glu177=)
| |
17 | g.61590652_61590653dup | CA2269090928 | NACA2 | c.529_530dup (p.Val178LysfsTer5)
| dbSNP |
17 | g.61590652C>A | CA400783804 | NACA2 | c.529G>T (p.Glu177Ter)
| |
17 | g.61590652C>G | CA400783805 | NACA2 | c.529G>C (p.Glu177Gln)
| |
17 | g.61590652C>T | CA400783806 | NACA2 | c.529G>A (p.Glu177Lys)
| |
17 | g.61590653del | CA2639152782 | NACA2 | c.528del (p.Glu177LysfsTer5)
| gnomAD v4 |
17 | g.61590653T>A | CA501351250 | NACA2 | c.528A>T (p.Val176=)
| |
17 | g.61590653T>C | CA8690186 | NACA2 | c.528A>G (p.Val176=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590653T>G | CA501351252 | NACA2 | c.528A>C (p.Val176=)
| |
17 | g.61590653T= | CA2269090930 | NACA2 | c.528A= (p.Val176=)
| |
17 | g.61590654A>C | CA400783807 | NACA2 | c.527T>G (p.Val176Gly)
| |
17 | g.61590654A>G | CA400783808 | NACA2 | c.527T>C (p.Val176Ala)
| gnomAD v4 |
17 | g.61590654A>T | CA400783809 | NACA2 | c.527T>A (p.Val176Glu)
| |
17 | g.61590655C>A | CA400783810 | NACA2 | c.526G>T (p.Val176Leu)
| |
17 | g.61590655C>G | CA400783811 | NACA2 | c.526G>C (p.Val176Leu)
| |
17 | g.61590655C>T | CA400783812 | NACA2 | c.526G>A (p.Val176Ile)
| |
17 | g.61590655_61590668delinsCACCTGTTTCATCG | CA2269090931 | NACA2 | c.513_526delinsCGATGAAACAGGTG (p.Val171=)
| |
17 | g.61590656A>C | CA501351257 | NACA2 | c.525T>G (p.Gly175=)
| gnomAD v4 |
17 | g.61590656A>G | CA501351259 | NACA2 | c.525T>C (p.Gly175=)
| |
17 | g.61590656A>T | CA501351261 | NACA2 | c.525T>A (p.Gly175=)
| |
17 | g.61590660_61590672del | CA2269090932 | NACA2 | c.513_525del (p.Asp172Ter)
| dbSNP |
17 | g.61590657C>A | CA400783815 | NACA2 | c.524G>T (p.Gly175Val)
| dbSNP gnomAD v4 COSMIC |
17 | g.61590657C= | CA2269090933 | NACA2 | c.524G= (p.Gly175=)
| |
17 | g.61590657C>G | CA400783813 | NACA2 | c.524G>C (p.Gly175Ala)
| |
17 | g.61590657C>T | CA400783814 | NACA2 | c.524G>A (p.Gly175Asp)
| |
17 | g.61590658C>A | CA400783816 | NACA2 | c.523G>T (p.Gly175Cys)
| |
17 | g.61590658C= | CA2269090934 | NACA2 | c.523G= (p.Gly175=)
| |
17 | g.61590658C>G | CA400783818 | NACA2 | c.523G>C (p.Gly175Arg)
| |
17 | g.61590658C>T | CA400783817 | NACA2 | c.523G>A (p.Gly175Ser)
| dbSNP gnomAD v4 |
17 | g.61590659T>A | CA501351264 | NACA2 | c.522A>T (p.Thr174=)
| |
17 | g.61590659T>C | CA501351265 | NACA2 | c.522A>G (p.Thr174=)
| |
17 | g.61590659T>G | CA501351266 | NACA2 | c.522A>C (p.Thr174=)
| |
17 | g.61590660G>A | CA400783819 | NACA2 | c.521C>T (p.Thr174Ile)
| |
17 | g.61590660G>C | CA8690187 | NACA2 | c.521C>G (p.Thr174Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590660G= | CA2269090935 | NACA2 | c.521C= (p.Thr174=)
| |
17 | g.61590660G>T | CA400783820 | NACA2 | c.521C>A (p.Thr174Lys)
| |
17 | g.61590661T>A | CA400783821 | NACA2 | c.520A>T (p.Thr174Ser)
| |
17 | g.61590661T>C | CA400783822 | NACA2 | c.520A>G (p.Thr174Ala)
| gnomAD v4 |
17 | g.61590661T>G | CA400783823 | NACA2 | c.520A>C (p.Thr174Pro)
| COSMIC |
17 | g.61590662T>A | CA400783824 | NACA2 | c.519A>T (p.Glu173Asp)
| |
17 | g.61590662T>C | CA501351272 | NACA2 | c.519A>G (p.Glu173=)
| |
17 | g.61590662T>G | CA400783825 | NACA2 | c.519A>C (p.Glu173Asp)
| |
17 | g.61590663T>A | CA400783826 | NACA2 | c.518A>T (p.Glu173Val)
| |
17 | g.61590663T>C | CA400783827 | NACA2 | c.518A>G (p.Glu173Gly)
| |
17 | g.61590663T>G | CA400783828 | NACA2 | c.518A>C (p.Glu173Ala)
| |
17 | g.61590664C>A | CA400783829 | NACA2 | c.517G>T (p.Glu173Ter)
| gnomAD v4 |
17 | g.61590664C>G | CA400783830 | NACA2 | c.517G>C (p.Glu173Gln)
| gnomAD v4 |
17 | g.61590664C>T | CA400783831 | NACA2 | c.517G>A (p.Glu173Lys)
| |
17 | g.61590665A= | CA2269090936 | NACA2 | c.516T= (p.Asp172=)
| |
17 | g.61590665A>C | CA400783832 | NACA2 | c.516T>G (p.Asp172Glu)
| |
17 | g.61590665A>G | CA501351275 | NACA2 | c.516T>C (p.Asp172=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.61590665A>T | CA400783833 | NACA2 | c.516T>A (p.Asp172Glu)
| |
17 | g.61590666T>A | CA400783834 | NACA2 | c.515A>T (p.Asp172Val)
| |
17 | g.61590666T>C | CA400783835 | NACA2 | c.515A>G (p.Asp172Gly)
| |
17 | g.61590666T>G | CA400783836 | NACA2 | c.515A>C (p.Asp172Ala)
| |
17 | g.61590667C>A | CA400783837 | NACA2 | c.514G>T (p.Asp172Tyr)
| |
17 | g.61590667C= | CA2269090937 | NACA2 | c.514G= (p.Asp172=)
| |
17 | g.61590667C>G | CA400783838 | NACA2 | c.514G>C (p.Asp172His)
| dbSNP gnomAD v4 |
17 | g.61590667C>T | CA400783839 | NACA2 | c.514G>A (p.Asp172Asn)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.61590668G>A | CA501351282 | NACA2 | c.513C>T (p.Val171=)
| gnomAD v4 |
17 | g.61590668G>C | CA501351283 | NACA2 | c.513C>G (p.Val171=)
| gnomAD v4 |
17 | g.61590668G>T | CA501351284 | NACA2 | c.513C>A (p.Val171=)
| |
17 | g.61590669A>C | CA400783840 | NACA2 | c.512T>G (p.Val171Gly)
| |
17 | g.61590669A>G | CA400783841 | NACA2 | c.512T>C (p.Val171Ala)
| |
17 | g.61590669A>T | CA400783842 | NACA2 | c.512T>A (p.Val171Asp)
| |
17 | g.61590670C>A | CA400783843 | NACA2 | c.511G>T (p.Val171Phe)
| |
17 | g.61590670C>G | CA400783844 | NACA2 | c.511G>C (p.Val171Leu)
| |
17 | g.61590670C>T | CA400783845 | NACA2 | c.511G>A (p.Val171Ile)
| |
17 | g.61590671C>A | CA400783846 | NACA2 | c.510G>T (p.Glu170Asp)
| |
17 | g.61590671C>G | CA400783847 | NACA2 | c.510G>C (p.Glu170Asp)
| |
17 | g.61590671C>T | CA501351286 | NACA2 | c.510G>A (p.Glu170=)
| |
17 | g.61590673_61590674del | CA2639152783 | NACA2 | c.509_510del (p.Glu170GlyfsTer3)
| gnomAD v4 |
17 | g.61590672T>A | CA400783848 | NACA2 | c.509A>T (p.Glu170Val)
| |
17 | g.61590672T>C | CA8690188 | NACA2 | c.509A>G (p.Glu170Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.61590672T>G | CA400783849 | NACA2 | c.509A>C (p.Glu170Ala)
| gnomAD v4 |
17 | g.61590672T= | CA2269090938 | NACA2 | c.509A= (p.Glu170=)
| |
17 | g.61590673C>A | CA400783850 | NACA2 | c.508G>T (p.Glu170Ter)
| |
17 | g.61590673C>G | CA400783851 | NACA2 | c.508G>C (p.Glu170Gln)
| gnomAD v4 |
17 | g.61590673C>T | CA400783852 | NACA2 | c.508G>A (p.Glu170Lys)
| |
17 | g.61590673_61590674insGAAG | CA2639152784 | NACA2 | c.507_508insCTTC (p.Glu170LeufsTer5)
| gnomAD v4 |
17 | g.61590674T>A | CA400783853 | NACA2 | c.507A>T (p.Glu169Asp)
| |
17 | g.61590674T>C | CA501351295 | NACA2 | c.507A>G (p.Glu169=)
| dbSNP gnomAD v4 |
17 | g.61590674T>G | CA400783854 | NACA2 | c.507A>C (p.Glu169Asp)
| |
17 | g.61590674T= | CA2269090940 | NACA2 | c.507A= (p.Glu169=)
| |
17 | g.61590674_61590686delinsTTCCTCTTCACTC | CA2269090939 | NACA2 | c.495_507delinsGAGTGAAGAGGAA (p.Glu165=)
| |