6 | g.49459315A>C | CA364405576 | MMUT | c.152T>G (p.Leu51Arg)
| |
6 | g.49459315A>G | CA364405577 | MMUT | c.152T>C (p.Leu51Pro)
| |
6 | g.49459315A>T | CA364405578 | MMUT | c.152T>A (p.Leu51Gln)
| |
6 | g.49459316G>A | CA450609774 | MMUT | c.151C>T (p.Leu51=)
| dbSNP |
6 | g.49459316G>C | CA364405579 | MMUT | c.151C>G (p.Leu51Val)
| |
6 | g.49459316G>T | CA364405581 | MMUT | c.151C>A (p.Leu51Met)
| |
6 | g.49459317C>A | CA364405582 | MMUT | c.150G>T (p.Gln50His)
| |
6 | g.49459317C= | CA1627397038 | MMUT | c.150G= (p.Gln50=)
| |
6 | g.49459317C>G | CA3847177 | MMUT | c.150G>C (p.Gln50His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459317C>T | CA450609776 | MMUT | c.150G>A (p.Gln50=)
| gnomAD v4 |
6 | g.49459318T>A | CA364405584 | MMUT | c.149A>T (p.Gln50Leu)
| |
6 | g.49459318T>C | CA364405587 | MMUT | c.149A>G (p.Gln50Arg)
| |
6 | g.49459318T>G | CA364405586 | MMUT | c.149A>C (p.Gln50Pro)
| |
6 | g.49459319G>A | CA364405589 | MMUT | c.148C>T (p.Gln50Ter)
| gnomAD v4 |
6 | g.49459319G>C | CA364405590 | MMUT | c.148C>G (p.Gln50Glu)
| |
6 | g.49459319G>T | CA364405591 | MMUT | c.148C>A (p.Gln50Lys)
| |
6 | g.49459320C>A | CA364405592 | MMUT | c.147G>T (p.Lys49Asn)
| |
6 | g.49459320C>G | CA364405593 | MMUT | c.147G>C (p.Lys49Asn)
| gnomAD v4 |
6 | g.49459320C>T | CA450609782 | MMUT | c.147G>A (p.Lys49=)
| gnomAD v4 |
6 | g.49459321T>A | CA364405595 | MMUT | c.146A>T (p.Lys49Met)
| |
6 | g.49459321T>C | CA364405597 | MMUT | c.146A>G (p.Lys49Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459321T>G | CA364405598 | MMUT | c.146A>C (p.Lys49Thr)
| |
6 | g.49459321T= | CA1627397041 | MMUT | c.146A= (p.Lys49=)
| |
6 | g.49459325dup | CA913187319 | MMUT | c.146dup (p.Gln50AlafsTer?)
| |
6 | g.49459322T>A | CA364405599 | MMUT | c.145A>T (p.Lys49Ter)
| |
6 | g.49459322T>C | CA364405600 | MMUT | c.145A>G (p.Lys49Glu)
| |
6 | g.49459322T>G | CA364405601 | MMUT | c.145A>C (p.Lys49Gln)
| |
6 | g.49459323T>A | CA364405603 | MMUT | c.144A>T (p.Lys48Asn)
| |
6 | g.49459323T>C | CA450609783 | MMUT | c.144A>G (p.Lys48=)
| |
6 | g.49459323T>G | CA364405605 | MMUT | c.144A>C (p.Lys48Asn)
| |
6 | g.49459324T>A | CA364405609 | MMUT | c.143A>T (p.Lys48Ile)
| |
6 | g.49459324T>C | CA364405606 | MMUT | c.143A>G (p.Lys48Arg)
| |
6 | g.49459324T>G | CA364405608 | MMUT | c.143A>C (p.Lys48Thr)
| |
6 | g.49459325T>A | CA364405611 | MMUT | c.142A>T (p.Lys48Ter)
| |
6 | g.49459325T>C | CA364405613 | MMUT | c.142A>G (p.Lys48Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459325T>G | CA364405614 | MMUT | c.142A>C (p.Lys48Gln)
| |
6 | g.49459325T= | CA1627397045 | MMUT | c.142A= (p.Lys48=)
| |
6 | g.49459326A>C | CA450609788 | MMUT | c.141T>G (p.Ala47=)
| |
6 | g.49459326A>G | CA450609789 | MMUT | c.141T>C (p.Ala47=)
| |
6 | g.49459326A>T | CA450609790 | MMUT | c.141T>A (p.Ala47=)
| |
6 | g.49459326_49459327insAAAA | CA2695206701 | MMUT | c.141_142insTTTT (p.Lys48PhefsTer2)
| |
6 | g.49459327G>A | CA364405616 | MMUT | c.140C>T (p.Ala47Val)
| |
6 | g.49459327G>C | CA364405618 | MMUT | c.140C>G (p.Ala47Gly)
| |
6 | g.49459327G>T | CA364405619 | MMUT | c.140C>A (p.Ala47Asp)
| |
6 | g.49459328C>A | CA364405621 | MMUT | c.139G>T (p.Ala47Ser)
| |
6 | g.49459328C>G | CA364405622 | MMUT | c.139G>C (p.Ala47Pro)
| |
6 | g.49459328C>T | CA364405624 | MMUT | c.139G>A (p.Ala47Thr)
| |
6 | g.49459329C>A | CA450609792 | MMUT | c.138G>T (p.Leu46=)
| |
6 | g.49459329C>G | CA450609794 | MMUT | c.138G>C (p.Leu46=)
| gnomAD v4 |
6 | g.49459329C>T | CA450609791 | MMUT | c.138G>A (p.Leu46=)
| |
6 | g.49459330A= | CA1627397048 | MMUT | c.137T= (p.Leu46=)
| |
6 | g.49459330A>C | CA364405626 | MMUT | c.137T>G (p.Leu46Arg)
| |
6 | g.49459330A>G | CA364405627 | MMUT | c.137T>C (p.Leu46Pro)
| |
6 | g.49459330A>T | CA364405629 | MMUT | c.137T>A (p.Leu46Gln)
| dbSNP |
6 | g.49459331G>A | CA450609799 | MMUT | c.136C>T (p.Leu46=)
| |
6 | g.49459331G>C | CA364405632 | MMUT | c.136C>G (p.Leu46Val)
| |
6 | g.49459331G>T | CA364405630 | MMUT | c.136C>A (p.Leu46Met)
| |
6 | g.49459332G>A | CA450609800 | MMUT | c.135C>T (p.Ala45=)
| dbSNP |
6 | g.49459332G>C | CA450609801 | MMUT | c.135C>G (p.Ala45=)
| |
6 | g.49459332G= | CA1627397050 | MMUT | c.135C= (p.Ala45=)
| |
6 | g.49459332G>T | CA450609802 | MMUT | c.135C>A (p.Ala45=)
| |
6 | g.49459333G>A | CA364405634 | MMUT | c.134C>T (p.Ala45Val)
| |
6 | g.49459333G>C | CA364405635 | MMUT | c.134C>G (p.Ala45Gly)
| |
6 | g.49459333G>T | CA364405636 | MMUT | c.134C>A (p.Ala45Asp)
| |
6 | g.49459334C>A | CA364405638 | MMUT | c.133G>T (p.Ala45Ser)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459334C= | CA1627397053 | MMUT | c.133G= (p.Ala45=)
| |
6 | g.49459334C>G | CA364405640 | MMUT | c.133G>C (p.Ala45Pro)
| |
6 | g.49459334C>T | CA364405642 | MMUT | c.133G>A (p.Ala45Thr)
| dbSNP COSMIC |
6 | g.49459335A>C | CA450609807 | MMUT | c.132T>G (p.Ala44=)
| |
6 | g.49459335A>G | CA450609809 | MMUT | c.132T>C (p.Ala44=)
| gnomAD v4 |
6 | g.49459335A>T | CA450609811 | MMUT | c.132T>A (p.Ala44=)
| |
6 | g.49459336G>A | CA364405647 | MMUT | c.131C>T (p.Ala44Val)
| |
6 | g.49459336G>C | CA364405646 | MMUT | c.131C>G (p.Ala44Gly)
| |
6 | g.49459336G>T | CA364405644 | MMUT | c.131C>A (p.Ala44Asp)
| |
6 | g.49459337C>A | CA364405649 | MMUT | c.130G>T (p.Ala44Ser)
| |
6 | g.49459337C= | CA1627397056 | MMUT | c.130G= (p.Ala44=)
| |
6 | g.49459337C>G | CA364405651 | MMUT | c.130G>C (p.Ala44Pro)
| |
6 | g.49459337C>T | CA364405652 | MMUT | c.130G>A (p.Ala44Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459338C>A | CA364405654 | MMUT | c.129G>T (p.Trp43Cys)
| |
6 | g.49459338C= | CA1627397064 | MMUT | c.129G= (p.Trp43=)
| |
6 | g.49459338C>G | CA364405655 | MMUT | c.129G>C (p.Trp43Cys)
| gnomAD v4 |
6 | g.49459338C>T | CA10575886 | MMUT | c.129G>A (p.Trp43Ter)
| ClinVar dbSNP |
6 | g.49459339C>A | CA364405658 | MMUT | c.128G>T (p.Trp43Leu)
| |
6 | g.49459339C>G | CA364405660 | MMUT | c.128G>C (p.Trp43Ser)
| |
6 | g.49459339C>T | CA364405659 | MMUT | c.128G>A (p.Trp43Ter)
| ClinVar |
6 | g.49459340A>C | CA364405662 | MMUT | c.127T>G (p.Trp43Gly)
| |
6 | g.49459340A>G | CA364405664 | MMUT | c.127T>C (p.Trp43Arg)
| |
6 | g.49459340A>T | CA364405665 | MMUT | c.127T>A (p.Trp43Arg)
| |
6 | g.49459341T>A | CA364405666 | MMUT | c.126A>T (p.Glu42Asp)
| |
6 | g.49459341T>C | CA450609821 | MMUT | c.126A>G (p.Glu42=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459341T>G | CA364405667 | MMUT | c.126A>C (p.Glu42Asp)
| |
6 | g.49459342T>A | CA364405668 | MMUT | c.125A>T (p.Glu42Val)
| |
6 | g.49459342T>C | CA364405670 | MMUT | c.125A>G (p.Glu42Gly)
| |
6 | g.49459342T>G | CA364405671 | MMUT | c.125A>C (p.Glu42Ala)
| |
6 | g.49459343C>A | CA364405673 | MMUT | c.124G>T (p.Glu42Ter)
| |
6 | g.49459343C>G | CA364405675 | MMUT | c.124G>C (p.Glu42Gln)
| |
6 | g.49459343C>T | CA364405676 | MMUT | c.124G>A (p.Glu42Lys)
| |
6 | g.49459344T>A | CA450609827 | MMUT | c.123A>T (p.Pro41=)
| |
6 | g.49459344T>C | CA3847178 | MMUT | c.123A>G (p.Pro41=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459344T>G | CA450609829 | MMUT | c.123A>C (p.Pro41=)
| |
6 | g.49459344T= | CA1627397070 | MMUT | c.123A= (p.Pro41=)
| |
6 | g.49459345G>A | CA364405678 | MMUT | c.122C>T (p.Pro41Leu)
| |
6 | g.49459345G>C | CA364405680 | MMUT | c.122C>G (p.Pro41Arg)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459345G= | CA1627397074 | MMUT | c.122C= (p.Pro41=)
| |
6 | g.49459345G>T | CA364405679 | MMUT | c.122C>A (p.Pro41Gln)
| |
6 | g.49459346G>A | CA364405682 | MMUT | c.121C>T (p.Pro41Ser)
| |
6 | g.49459346G>C | CA364405685 | MMUT | c.121C>G (p.Pro41Ala)
| |
6 | g.49459346G>T | CA364405684 | MMUT | c.121C>A (p.Pro41Thr)
| |
6 | g.49459347G>A | CA450609833 | MMUT | c.120C>T (p.His40=)
| |
6 | g.49459347G>C | CA364405687 | MMUT | c.120C>G (p.His40Gln)
| |
6 | g.49459347G>T | CA364405688 | MMUT | c.120C>A (p.His40Gln)
| |
6 | g.49459348T>A | CA364405690 | MMUT | c.119A>T (p.His40Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459348T>C | CA364405692 | MMUT | c.119A>G (p.His40Arg)
| |
6 | g.49459348T>G | CA364405693 | MMUT | c.119A>C (p.His40Pro)
| |
6 | g.49459348T= | CA1627397077 | MMUT | c.119A= (p.His40=)
| |
6 | g.49459349G>A | CA138801191 | MMUT | c.118C>T (p.His40Tyr)
| dbSNP gnomAD v4 |
6 | g.49459349G>C | CA364405695 | MMUT | c.118C>G (p.His40Asp)
| |
6 | g.49459349G= | CA1627397080 | MMUT | c.118C= (p.His40=)
| |
6 | g.49459349G>T | CA364405697 | MMUT | c.118C>A (p.His40Asn)
| |
6 | g.49459350A>C | CA450609837 | MMUT | c.117T>G (p.Leu39=)
| |
6 | g.49459350A>G | CA450609839 | MMUT | c.117T>C (p.Leu39=)
| |
6 | g.49459350A>T | CA450609841 | MMUT | c.117T>A (p.Leu39=)
| |
6 | g.49459351A>C | CA364405699 | MMUT | c.116T>G (p.Leu39Arg)
| |
6 | g.49459351A>G | CA364405700 | MMUT | c.116T>C (p.Leu39Pro)
| |
6 | g.49459351A>T | CA364405702 | MMUT | c.116T>A (p.Leu39His)
| |
6 | g.49459352G>A | CA364405707 | MMUT | c.115C>T (p.Leu39Phe)
| |
6 | g.49459352G>C | CA364405704 | MMUT | c.115C>G (p.Leu39Val)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459352G= | CA1627397082 | MMUT | c.115C= (p.Leu39=)
| |
6 | g.49459352G>T | CA364405705 | MMUT | c.115C>A (p.Leu39Ile)
| |
6 | g.49459355del | CA645546400 | MMUT | c.115del (p.Leu39PhefsTer13)
| COSMIC |
6 | g.49459353G>A | CA450609846 | MMUT | c.114C>T (p.Pro38=)
| |
6 | g.49459353G>C | CA450609848 | MMUT | c.114C>G (p.Pro38=)
| |
6 | g.49459353G>T | CA450609847 | MMUT | c.114C>A (p.Pro38=)
| |
6 | g.49459354G>A | CA364405708 | MMUT | c.113C>T (p.Pro38Leu)
| |
6 | g.49459354G>C | CA364405709 | MMUT | c.113C>G (p.Pro38Arg)
| |
6 | g.49459354G>T | CA364405710 | MMUT | c.113C>A (p.Pro38His)
| |
6 | g.49459355G>A | CA138801195 | MMUT | c.112C>T (p.Pro38Ser)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459355G>C | CA364405713 | MMUT | c.112C>G (p.Pro38Ala)
| gnomAD v4 |
6 | g.49459355G= | CA1627397087 | MMUT | c.112C= (p.Pro38=)
| |
6 | g.49459355G>T | CA364405714 | MMUT | c.112C>A (p.Pro38Thr)
| |
6 | g.49459356C>A | CA364405716 | MMUT | c.111G>T (p.Gln37His)
| |
6 | g.49459356C>G | CA364405717 | MMUT | c.111G>C (p.Gln37His)
| |
6 | g.49459356C>T | CA450609854 | MMUT | c.111G>A (p.Gln37=)
| |
6 | g.49459357T>A | CA364405719 | MMUT | c.110A>T (p.Gln37Leu)
| |
6 | g.49459357T>C | CA364405720 | MMUT | c.110A>G (p.Gln37Arg)
| |
6 | g.49459357T>G | CA364405722 | MMUT | c.110A>C (p.Gln37Pro)
| |
6 | g.49459358G>A | CA364405725 | MMUT | c.109C>T (p.Gln37Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459358G>C | CA364405726 | MMUT | c.109C>G (p.Gln37Glu)
| |
6 | g.49459358G= | CA1627397094 | MMUT | c.109C= (p.Gln37=)
| |
6 | g.49459358G>T | CA364405724 | MMUT | c.109C>A (p.Gln37Lys)
| |
6 | g.49459359T>A | CA364405729 | MMUT | c.108A>T (p.Gln36His)
| |
6 | g.49459359T>C | CA450609860 | MMUT | c.108A>G (p.Gln36=)
| ClinVar |
6 | g.49459359T>G | CA364405730 | MMUT | c.108A>C (p.Gln36His)
| |
6 | g.49459360T>A | CA364405732 | MMUT | c.107A>T (p.Gln36Leu)
| |
6 | g.49459360T>C | CA364405733 | MMUT | c.107A>G (p.Gln36Arg)
| |
6 | g.49459360T>G | CA364405734 | MMUT | c.107A>C (p.Gln36Pro)
| |
6 | g.49459361G>A | CA364405736 | MMUT | c.106C>T (p.Gln36Ter)
| |
6 | g.49459361G>C | CA364405738 | MMUT | c.106C>G (p.Gln36Glu)
| |
6 | g.49459361G>T | CA364405739 | MMUT | c.106C>A (p.Gln36Lys)
| |
6 | g.49459362C>A | CA364405741 | MMUT | c.105G>T (p.Gln35His)
| |
6 | g.49459362C>G | CA364405742 | MMUT | c.105G>C (p.Gln35His)
| |
6 | g.49459362C>T | CA450609864 | MMUT | c.105G>A (p.Gln35=)
| |
6 | g.49459363del | CA2695206702 | MMUT | c.104del (p.Gln35ArgfsTer17)
| |
6 | g.49459363T>A | CA364405744 | MMUT | c.104A>T (p.Gln35Leu)
| |
6 | g.49459363T>C | CA364405745 | MMUT | c.104A>G (p.Gln35Arg)
| |
6 | g.49459363T>G | CA364405747 | MMUT | c.104A>C (p.Gln35Pro)
| |
6 | g.49459365_49459367del | CA2679047397 | MMUT | c.102_104del (p.His34del)
| gnomAD v4 |
6 | g.49459364G>A | CA364405751 | MMUT | c.103C>T (p.Gln35Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459364G>C | CA364405750 | MMUT | c.103C>G (p.Gln35Glu)
| |
6 | g.49459364G= | CA1627397097 | MMUT | c.103C= (p.Gln35=)
| |
6 | g.49459364G>T | CA364405749 | MMUT | c.103C>A (p.Gln35Lys)
| |
6 | g.49459365G>A | CA450609872 | MMUT | c.102C>T (p.His34=)
| ClinVar dbSNP |
6 | g.49459365G>C | CA364405752 | MMUT | c.102C>G (p.His34Gln)
| |
6 | g.49459365G>T | CA364405753 | MMUT | c.102C>A (p.His34Gln)
| |
6 | g.49459366T>A | CA364405755 | MMUT | c.101A>T (p.His34Leu)
| |
6 | g.49459366T>C | CA364405756 | MMUT | c.101A>G (p.His34Arg)
| |
6 | g.49459366T>G | CA364405758 | MMUT | c.101A>C (p.His34Pro)
| dbSNP |
6 | g.49459366T= | CA1627397100 | MMUT | c.101A= (p.His34=)
| |
6 | g.49459367G>A | CA364405759 | MMUT | c.100C>T (p.His34Tyr)
| gnomAD v4 |
6 | g.49459367G>C | CA364405760 | MMUT | c.100C>G (p.His34Asp)
| |
6 | g.49459367G>T | CA364405762 | MMUT | c.100C>A (p.His34Asn)
| |
6 | g.49459368T>A | CA450609876 | MMUT | c.99A>T (p.Leu33=)
| |
6 | g.49459368T>C | CA450609877 | MMUT | c.99A>G (p.Leu33=)
| |
6 | g.49459368T>G | CA450609878 | MMUT | c.99A>C (p.Leu33=)
| |
6 | g.49459369A>C | CA364405763 | MMUT | c.98T>G (p.Leu33Arg)
| |
6 | g.49459369A>G | CA364405764 | MMUT | c.98T>C (p.Leu33Pro)
| |
6 | g.49459369A>T | CA364405766 | MMUT | c.98T>A (p.Leu33Gln)
| |
6 | g.49459370G>A | CA450609881 | MMUT | c.97C>T (p.Leu33=)
| |
6 | g.49459370G>C | CA364405768 | MMUT | c.97C>G (p.Leu33Val)
| gnomAD v4 |
6 | g.49459370G>T | CA364405770 | MMUT | c.97C>A (p.Leu33Ile)
| gnomAD v4 |
6 | g.49459370_49459371insCC | CA2697553435 | MMUT | c.96_97insGG (p.Leu33GlyfsTer20)
| ClinVar |
6 | g.49459371A>C | CA450609886 | MMUT | c.96T>G (p.Leu32=)
| |
6 | g.49459371A>G | CA450609888 | MMUT | c.96T>C (p.Leu32=)
| |
6 | g.49459371A>T | CA450609890 | MMUT | c.96T>A (p.Leu32=)
| |
6 | g.49459372A>C | CA364405771 | MMUT | c.95T>G (p.Leu32Arg)
| gnomAD v4 |
6 | g.49459372A>G | CA364405774 | MMUT | c.95T>C (p.Leu32Pro)
| |
6 | g.49459372A>T | CA364405772 | MMUT | c.95T>A (p.Leu32His)
| |
6 | g.49459373G>A | CA364405776 | MMUT | c.94C>T (p.Leu32Phe)
| |
6 | g.49459373G>C | CA364405778 | MMUT | c.94C>G (p.Leu32Val)
| gnomAD v4 |
6 | g.49459373G>T | CA364405777 | MMUT | c.94C>A (p.Leu32Ile)
| |
6 | g.49459374T>A | CA450609896 | MMUT | c.93A>T (p.Arg31=)
| |
6 | g.49459374T>C | CA450609900 | MMUT | c.93A>G (p.Arg31=)
| |
6 | g.49459374T>G | CA450609898 | MMUT | c.93A>C (p.Arg31=)
| |
6 | g.49459375C>A | CA364405779 | MMUT | c.92G>T (p.Arg31Leu)
| gnomAD v4 |
6 | g.49459375C= | CA1627397102 | MMUT | c.92G= (p.Arg31=)
| |
6 | g.49459375C>G | CA364405781 | MMUT | c.92G>C (p.Arg31Pro)
| |
6 | g.49459375C>T | CA364405783 | MMUT | c.92G>A (p.Arg31Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459376G>A | CA249743 | MMUT | c.91C>T (p.Arg31Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49459376G>C | CA364405784 | MMUT | c.91C>G (p.Arg31Gly)
| |
6 | g.49459376G= | CA1627397107 | MMUT | c.91C= (p.Arg31=)
| |
6 | g.49459376G>T | CA450609905 | MMUT | c.91C>A (p.Arg31=)
| gnomAD v4 |
6 | g.49459377T>A | CA364405786 | MMUT | c.90A>T (p.Gln30His)
| |
6 | g.49459377T>C | CA450609906 | MMUT | c.90A>G (p.Gln30=)
| |
6 | g.49459377T>G | CA364405788 | MMUT | c.90A>C (p.Gln30His)
| |
6 | g.49459378T>A | CA364405789 | MMUT | c.89A>T (p.Gln30Leu)
| |
6 | g.49459378T>C | CA364405791 | MMUT | c.89A>G (p.Gln30Arg)
| |
6 | g.49459378T>G | CA364405792 | MMUT | c.89A>C (p.Gln30Pro)
| |
6 | g.49459379G>A | CA10575887 | MMUT | c.88C>T (p.Gln30Ter)
| ClinVar dbSNP |
6 | g.49459379G>C | CA364405794 | MMUT | c.88C>G (p.Gln30Glu)
| |
6 | g.49459379G= | CA1627397117 | MMUT | c.88C= (p.Gln30=)
| |
6 | g.49459379G>T | CA364405795 | MMUT | c.88C>A (p.Gln30Lys)
| |
6 | g.49459380C>A | CA364405797 | MMUT | c.87G>T (p.Gln29His)
| |
6 | g.49459380C= | CA1627397125 | MMUT | c.87G= (p.Gln29=)
| |
6 | g.49459380C>G | CA364405799 | MMUT | c.87G>C (p.Gln29His)
| |
6 | g.49459380C>T | CA10627193 | MMUT | c.87G>A (p.Gln29=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459381T>A | CA364405802 | MMUT | c.86A>T (p.Gln29Leu)
| |
6 | g.49459381T>C | CA364405803 | MMUT | c.86A>G (p.Gln29Arg)
| dbSNP |
6 | g.49459381T>G | CA364405805 | MMUT | c.86A>C (p.Gln29Pro)
| |
6 | g.49459382G>A | CA364405806 | MMUT | c.85C>T (p.Gln29Ter)
| |
6 | g.49459382G>C | CA364405807 | MMUT | c.85C>G (p.Gln29Glu)
| |
6 | g.49459382G>T | CA364405809 | MMUT | c.85C>A (p.Gln29Lys)
| |
6 | g.49459383T>A | CA450609917 | MMUT | c.84A>T (p.Ile28=)
| |
6 | g.49459383T>C | CA364405811 | MMUT | c.84A>G (p.Ile28Met)
| gnomAD v4 |
6 | g.49459383T>G | CA450609916 | MMUT | c.84A>C (p.Ile28=)
| |
6 | g.49459384A>C | CA364405813 | MMUT | c.83T>G (p.Ile28Arg)
| |
6 | g.49459384A>G | CA364405814 | MMUT | c.83T>C (p.Ile28Thr)
| |
6 | g.49459384A>T | CA364405816 | MMUT | c.83T>A (p.Ile28Lys)
| |
6 | g.49459385T>A | CA364405820 | MMUT | c.82A>T (p.Ile28Leu)
| gnomAD v4 |
6 | g.49459385T>C | CA364405818 | MMUT | c.82A>G (p.Ile28Val)
| COSMIC |
6 | g.49459385T>G | CA138801210 | MMUT | c.82A>C (p.Ile28Leu)
| dbSNP gnomAD v4 |
6 | g.49459385T= | CA1627397131 | MMUT | c.82A= (p.Ile28=)
| |
6 | g.49459388_49459400del | CA2695206703 | MMUT | c.70_82del (p.Gly24TyrfsTer24)
| |
6 | g.49459386G>A | CA450609923 | MMUT | c.81C>T (p.Leu27=)
| |
6 | g.49459386G>C | CA450609924 | MMUT | c.81C>G (p.Leu27=)
| |
6 | g.49459386G>T | CA450609926 | MMUT | c.81C>A (p.Leu27=)
| |
6 | g.49459387A>C | CA364405824 | MMUT | c.80T>G (p.Leu27Arg)
| |
6 | g.49459387A>G | CA364405821 | MMUT | c.80T>C (p.Leu27Pro)
| |
6 | g.49459387A>T | CA364405823 | MMUT | c.80T>A (p.Leu27His)
| |
6 | g.49459388G>A | CA364405826 | MMUT | c.79C>T (p.Leu27Phe)
| gnomAD v4 |
6 | g.49459388G>C | CA3847179 | MMUT | c.79C>G (p.Leu27Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459388G= | CA1627397135 | MMUT | c.79C= (p.Leu27=)
| |
6 | g.49459388G>T | CA364405827 | MMUT | c.79C>A (p.Leu27Ile)
| |
6 | g.49459389C>A | CA364405831 | MMUT | c.78G>T (p.Arg26Ser)
| gnomAD v4 |
6 | g.49459389C= | CA1627397139 | MMUT | c.78G= (p.Arg26=)
| |
6 | g.49459389C>G | CA364405829 | MMUT | c.78G>C (p.Arg26Ser)
| |
6 | g.49459389C>T | CA3847180 | MMUT | c.78G>A (p.Arg26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459390C>A | CA364405832 | MMUT | c.77G>T (p.Arg26Met)
| gnomAD v4 |
6 | g.49459390C>G | CA364405834 | MMUT | c.77G>C (p.Arg26Thr)
| |
6 | g.49459390C>T | CA364405835 | MMUT | c.77G>A (p.Arg26Lys)
| |
6 | g.49459391T>A | CA364405837 | MMUT | c.76A>T (p.Arg26Trp)
| |
6 | g.49459391T>C | CA364405839 | MMUT | c.76A>G (p.Arg26Gly)
| |
6 | g.49459391T>G | CA3847181 | MMUT | c.76A>C (p.Arg26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459391T= | CA1627397142 | MMUT | c.76A= (p.Arg26=)
| |
6 | g.49459392G>A | CA450609933 | MMUT | c.75C>T (p.Ser25=)
| ClinVar dbSNP gnomAD v2 |
6 | g.49459392G>C | CA450609935 | MMUT | c.75C>G (p.Ser25=)
| |
6 | g.49459392G= | CA1627397144 | MMUT | c.75C= (p.Ser25=)
| |
6 | g.49459392G>T | CA450609936 | MMUT | c.75C>A (p.Ser25=)
| |
6 | g.49459393G>A | CA364405841 | MMUT | c.74C>T (p.Ser25Phe)
| gnomAD v4 |
6 | g.49459393G>C | CA364405844 | MMUT | c.74C>G (p.Ser25Cys)
| |
6 | g.49459393G>T | CA364405842 | MMUT | c.74C>A (p.Ser25Tyr)
| |
6 | g.49459394A>C | CA364405845 | MMUT | c.73T>G (p.Ser25Ala)
| gnomAD v4 |
6 | g.49459394A>G | CA364405846 | MMUT | c.73T>C (p.Ser25Pro)
| |
6 | g.49459394A>T | CA364405848 | MMUT | c.73T>A (p.Ser25Thr)
| |
6 | g.49459395G>A | CA450609940 | MMUT | c.72C>T (p.Gly24=)
| gnomAD v4 |
6 | g.49459395G>C | CA450609941 | MMUT | c.72C>G (p.Gly24=)
| |
6 | g.49459395G>T | CA450609942 | MMUT | c.72C>A (p.Gly24=)
| |
6 | g.49459396C>A | CA364405849 | MMUT | c.71G>T (p.Gly24Val)
| gnomAD v4 |
6 | g.49459396C>G | CA364405850 | MMUT | c.71G>C (p.Gly24Ala)
| gnomAD v4 |
6 | g.49459396C>T | CA364405852 | MMUT | c.71G>A (p.Gly24Asp)
| |
6 | g.49459397C>A | CA364405854 | MMUT | c.70G>T (p.Gly24Cys)
| |
6 | g.49459397C>G | CA364405856 | MMUT | c.70G>C (p.Gly24Arg)
| |
6 | g.49459397C>T | CA364405857 | MMUT | c.70G>A (p.Gly24Ser)
| |
6 | g.49459398T>A | CA450609949 | MMUT | c.69A>T (p.Ser23=)
| |
6 | g.49459398T>C | CA450609950 | MMUT | c.69A>G (p.Ser23=)
| |
6 | g.49459398T>G | CA450609951 | MMUT | c.69A>C (p.Ser23=)
| |
6 | g.49459399G>A | CA364405858 | MMUT | c.68C>T (p.Ser23Leu)
| gnomAD v4 |
6 | g.49459399G>C | CA364405860 | MMUT | c.68C>G (p.Ser23Ter)
| |
6 | g.49459399G>T | CA364405862 | MMUT | c.68C>A (p.Ser23Ter)
| gnomAD v4 |
6 | g.49459400A>C | CA364405865 | MMUT | c.67T>G (p.Ser23Ala)
| gnomAD v4 |
6 | g.49459400A>G | CA364405866 | MMUT | c.67T>C (p.Ser23Pro)
| gnomAD v4 |
6 | g.49459400A>T | CA364405864 | MMUT | c.67T>A (p.Ser23Thr)
| |
6 | g.49459401T>A | CA450609954 | MMUT | c.66A>T (p.Ser22=)
| |
6 | g.49459401T>C | CA450609956 | MMUT | c.66A>G (p.Ser22=)
| |
6 | g.49459401T>G | CA450609958 | MMUT | c.66A>C (p.Ser22=)
| |
6 | g.49459402G>A | CA3847182 | MMUT | c.65C>T (p.Ser22Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459402G>C | CA364405869 | MMUT | c.65C>G (p.Ser22Ter)
| |
6 | g.49459402G= | CA1627397147 | MMUT | c.65C= (p.Ser22=)
| |
6 | g.49459402G>T | CA364405868 | MMUT | c.65C>A (p.Ser22Ter)
| |
6 | g.49459403A= | CA1627397149 | MMUT | c.64T= (p.Ser22=)
| |
6 | g.49459403A>C | CA364405870 | MMUT | c.64T>G (p.Ser22Ala)
| |
6 | g.49459403A>G | CA3847183 | MMUT | c.64T>C (p.Ser22Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459403A>T | CA364405871 | MMUT | c.64T>A (p.Ser22Thr)
| |
6 | g.49459404T>A | CA364405873 | MMUT | c.63A>T (p.Glu21Asp)
| |
6 | g.49459404T>C | CA450608976 | MMUT | c.63A>G (p.Glu21=)
| |
6 | g.49459404T>G | CA364405874 | MMUT | c.63A>C (p.Glu21Asp)
| |
6 | g.49459405T>A | CA364405876 | MMUT | c.62A>T (p.Glu21Val)
| |
6 | g.49459405T>C | CA364405878 | MMUT | c.62A>G (p.Glu21Gly)
| |
6 | g.49459405T>G | CA3847184 | MMUT | c.62A>C (p.Glu21Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459405T= | CA1627397151 | MMUT | c.62A= (p.Glu21=)
| |
6 | g.49459405_49459406delinsTC | CA1627397154 | MMUT | c.61_62delinsGA (p.Glu21=)
| |
6 | g.49459406del | CA567155987 | MMUT | c.61del (p.Glu21AsnfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459406C>A | CA364405880 | MMUT | c.61G>T (p.Glu21Ter)
| ClinVar dbSNP |
6 | g.49459406C= | CA1627397158 | MMUT | c.61G= (p.Glu21=)
| |
6 | g.49459406C>G | CA364405882 | MMUT | c.61G>C (p.Glu21Gln)
| |
6 | g.49459406C>T | CA364405883 | MMUT | c.61G>A (p.Glu21Lys)
| |
6 | g.49459407T>A | CA364405885 | MMUT | c.60A>T (p.Lys20Asn)
| |
6 | g.49459407T>C | CA450608977 | MMUT | c.60A>G (p.Lys20=)
| dbSNP gnomAD v4 |
6 | g.49459407T>G | CA364405886 | MMUT | c.60A>C (p.Lys20Asn)
| |
6 | g.49459407T= | CA1627397163 | MMUT | c.60A= (p.Lys20=)
| |
6 | g.49459408T>A | CA364405887 | MMUT | c.59A>T (p.Lys20Ile)
| |
6 | g.49459408T>C | CA364405890 | MMUT | c.59A>G (p.Lys20Arg)
| dbSNP |
6 | g.49459408T>G | CA364405889 | MMUT | c.59A>C (p.Lys20Thr)
| |
6 | g.49459408T= | CA1627397166 | MMUT | c.59A= (p.Lys20=)
| |
6 | g.49459409T>A | CA364405892 | MMUT | c.58A>T (p.Lys20Ter)
| |
6 | g.49459409T>C | CA364405894 | MMUT | c.58A>G (p.Lys20Glu)
| dbSNP gnomAD v2 |
6 | g.49459409T>G | CA364405895 | MMUT | c.58A>C (p.Lys20Gln)
| |
6 | g.49459409T= | CA1627397171 | MMUT | c.58A= (p.Lys20=)
| |
6 | g.49459410T>A | CA450608978 | MMUT | c.57A>T (p.Val19=)
| |
6 | g.49459410T>C | CA450608979 | MMUT | c.57A>G (p.Val19=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459410T>G | CA450608980 | MMUT | c.57A>C (p.Val19=)
| |
6 | g.49459410T= | CA1627397173 | MMUT | c.57A= (p.Val19=)
| |
6 | g.49459411A= | CA1627397179 | MMUT | c.56T= (p.Val19=)
| |
6 | g.49459411A>C | CA3847185 | MMUT | c.56T>G (p.Val19Gly)
| dbSNP ExAC gnomAD v2 |
6 | g.49459411A>G | CA364405897 | MMUT | c.56T>C (p.Val19Ala)
| |
6 | g.49459411A>T | CA364405898 | MMUT | c.56T>A (p.Val19Glu)
| |
6 | g.49459412C>A | CA364405901 | MMUT | c.55G>T (p.Val19Leu)
| gnomAD v4 |
6 | g.49459412C>G | CA364405902 | MMUT | c.55G>C (p.Val19Leu)
| gnomAD v4 |
6 | g.49459412C>T | CA364405903 | MMUT | c.55G>A (p.Val19Ile)
| |
6 | g.49459413dup | CA10575888 | MMUT | c.55dup (p.Val19GlyfsTer30)
| ClinVar dbSNP |
6 | g.49459413C>A | CA364405905 | MMUT | c.54G>T (p.Gln18His)
| |
6 | g.49459413C>G | CA364405907 | MMUT | c.54G>C (p.Gln18His)
| |
6 | g.49459413C>T | CA450608981 | MMUT | c.54G>A (p.Gln18=)
| |
6 | g.49459414T>A | CA364405908 | MMUT | c.53A>T (p.Gln18Leu)
| |
6 | g.49459414T>C | CA3847186 | MMUT | c.53A>G (p.Gln18Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459414T>G | CA364405910 | MMUT | c.53A>C (p.Gln18Pro)
| |
6 | g.49459414T= | CA1627397207 | MMUT | c.53A= (p.Gln18=)
| |
6 | g.49459415G>A | CA249725 | MMUT | c.52C>T (p.Gln18Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459415G>C | CA364405913 | MMUT | c.52C>G (p.Gln18Glu)
| |
6 | g.49459415G= | CA1627397211 | MMUT | c.52C= (p.Gln18=)
| |
6 | g.49459415G>T | CA364405914 | MMUT | c.52C>A (p.Gln18Lys)
| |