UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44456738G>A | CA10056009 | LRRC3 | c.94G>A (p.Ala32Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44456738G>C | CA410440656 | LRRC3 | c.94G>C (p.Ala32Pro) | |
| 21 | g.44456738G= | CA2391654847 | LRRC3 | c.94G= (p.Ala32=) | |
| 21 | g.44456738G>T | CA410440666 | LRRC3 | c.94G>T (p.Ala32Ser) | |
| 21 | g.44456739C>A | CA410440669 | LRRC3 | c.95C>A (p.Ala32Asp) | |
| 21 | g.44456739C>G | CA410440675 | LRRC3 | c.95C>G (p.Ala32Gly) | |
| 21 | g.44456739C>T | CA410440672 | LRRC3 | c.95C>T (p.Ala32Val) | gnomAD v4 |
| 21 | g.44456740C>A | CA512671646 | LRRC3 | c.96C>A (p.Ala32=) | |
| 21 | g.44456740C>G | CA512671647 | LRRC3 | c.96C>G (p.Ala32=) | |
| 21 | g.44456740C>T | CA512671648 | LRRC3 | c.96C>T (p.Ala32=) | |
| 21 | g.44456741T>A | CA410440699 | LRRC3 | c.97T>A (p.Cys33Ser) | |
| 21 | g.44456741T>C | CA410440700 | LRRC3 | c.97T>C (p.Cys33Arg) | |
| 21 | g.44456741T>G | CA410440701 | LRRC3 | c.97T>G (p.Cys33Gly) | |
| 21 | g.44456742G>A | CA410440703 | LRRC3 | c.98G>A (p.Cys33Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456742G>C | CA410440705 | LRRC3 | c.98G>C (p.Cys33Ser) | |
| 21 | g.44456742G= | CA2391654848 | LRRC3 | c.98G= (p.Cys33=) | |
| 21 | g.44456742G>T | CA410440711 | LRRC3 | c.98G>T (p.Cys33Phe) | |
| 21 | g.44456743C>A | CA410440714 | LRRC3 | c.99C>A (p.Cys33Ter) | |
| 21 | g.44456743C= | CA2391654849 | LRRC3 | c.99C= (p.Cys33=) | |
| 21 | g.44456743C>G | CA10056010 | LRRC3 | c.99C>G (p.Cys33Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44456743C>T | CA512671651 | LRRC3 | c.99C>T (p.Cys33=) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456744C>A | CA410440727 | LRRC3 | c.100C>A (p.Pro34Thr) | |
| 21 | g.44456744C>G | CA410440731 | LRRC3 | c.100C>G (p.Pro34Ala) | |
| 21 | g.44456744C>T | CA410440724 | LRRC3 | c.100C>T (p.Pro34Ser) | |
| 21 | g.44456745C>A | CA410440737 | LRRC3 | c.101C>A (p.Pro34Gln) | |
| 21 | g.44456745C= | CA2391654850 | LRRC3 | c.101C= (p.Pro34=) | |
| 21 | g.44456745C>G | CA410440740 | LRRC3 | c.101C>G (p.Pro34Arg) | |
| 21 | g.44456745C>T | CA410440743 | LRRC3 | c.101C>T (p.Pro34Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456746A>C | CA512671658 | LRRC3 | c.102A>C (p.Pro34=) | |
| 21 | g.44456746A>G | CA512671659 | LRRC3 | c.102A>G (p.Pro34=) | dbSNP gnomAD v4 |
| 21 | g.44456746A>T | CA512671657 | LRRC3 | c.102A>T (p.Pro34=) | |
| 21 | g.44456747C>A | CA410440749 | LRRC3 | c.103C>A (p.Gln35Lys) | gnomAD v4 |
| 21 | g.44456747C= | CA2391654851 | LRRC3 | c.103C= (p.Gln35=) | |
| 21 | g.44456747C>G | CA410440751 | LRRC3 | c.103C>G (p.Gln35Glu) | |
| 21 | g.44456747C>T | CA410440752 | LRRC3 | c.103C>T (p.Gln35Ter) | dbSNP |
| 21 | g.44456748A>C | CA410440753 | LRRC3 | c.104A>C (p.Gln35Pro) | |
| 21 | g.44456748A>G | CA410440755 | LRRC3 | c.104A>G (p.Gln35Arg) | |
| 21 | g.44456748A>T | CA410440757 | LRRC3 | c.104A>T (p.Gln35Leu) | |
| 21 | g.44456749G>A | CA512671661 | LRRC3 | c.105G>A (p.Gln35=) | |
| 21 | g.44456749G>C | CA410440758 | LRRC3 | c.105G>C (p.Gln35His) | gnomAD v4 |
| 21 | g.44456749G>T | CA410440759 | LRRC3 | c.105G>T (p.Gln35His) | |
| 21 | g.44456750C>A | CA410440768 | LRRC3 | c.106C>A (p.Pro36Thr) | |
| 21 | g.44456750C= | CA2391654852 | LRRC3 | c.106C= (p.Pro36=) | |
| 21 | g.44456750C>G | CA410440763 | LRRC3 | c.106C>G (p.Pro36Ala) | |
| 21 | g.44456750C>T | CA410440760 | LRRC3 | c.106C>T (p.Pro36Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456751C>A | CA410440770 | LRRC3 | c.107C>A (p.Pro36His) | |
| 21 | g.44456751C= | CA2391654853 | LRRC3 | c.107C= (p.Pro36=) | |
| 21 | g.44456751C>G | CA410440778 | LRRC3 | c.107C>G (p.Pro36Arg) | dbSNP |
| 21 | g.44456751C>T | CA410440782 | LRRC3 | c.107C>T (p.Pro36Leu) | |
| 21 | g.44456752C>A | CA512671663 | LRRC3 | c.108C>A (p.Pro36=) | |
| 21 | g.44456752C= | CA2391654854 | LRRC3 | c.108C= (p.Pro36=) | |
| 21 | g.44456752C>G | CA512671665 | LRRC3 | c.108C>G (p.Pro36=) | |
| 21 | g.44456752C>T | CA512671664 | LRRC3 | c.108C>T (p.Pro36=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456753T>A | CA410440787 | LRRC3 | c.109T>A (p.Cys37Ser) | |
| 21 | g.44456753T>C | CA410440790 | LRRC3 | c.109T>C (p.Cys37Arg) | |
| 21 | g.44456753T>G | CA410440793 | LRRC3 | c.109T>G (p.Cys37Gly) | |
| 21 | g.44456754G>A | CA410440795 | LRRC3 | c.110G>A (p.Cys37Tyr) | |
| 21 | g.44456754G>C | CA410440797 | LRRC3 | c.110G>C (p.Cys37Ser) | |
| 21 | g.44456754G>T | CA410440798 | LRRC3 | c.110G>T (p.Cys37Phe) | |
| 21 | g.44456755C>A | CA410440801 | LRRC3 | c.111C>A (p.Cys37Ter) | |
| 21 | g.44456755C>G | CA410440806 | LRRC3 | c.111C>G (p.Cys37Trp) | |
| 21 | g.44456755C>T | CA512671671 | LRRC3 | c.111C>T (p.Cys37=) | gnomAD v4 |
| 21 | g.44456756dup | CA2654822806 | LRRC3 | c.112dup (p.Arg38ProfsTer4) | gnomAD v4 |
| 21 | g.44456756C>A | CA512671673 | LRRC3 | c.112C>A (p.Arg38=) | |
| 21 | g.44456756C= | CA2391654855 | LRRC3 | c.112C= (p.Arg38=) | |
| 21 | g.44456756C>G | CA321807074 | LRRC3 | c.112C>G (p.Arg38Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456756C>T | CA10056011 | LRRC3 | c.112C>T (p.Arg38Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44456757G>A | CA410440815 | LRRC3 | c.113G>A (p.Arg38Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456757G>C | CA10056013 | LRRC3 | c.113G>C (p.Arg38Pro) | dbSNP ExAC gnomAD v4 |
| 21 | g.44456757G= | CA2391654856 | LRRC3 | c.113G= (p.Arg38=) | |
| 21 | g.44456757G>T | CA10056012 | LRRC3 | c.113G>T (p.Arg38Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456758G>A | CA512671677 | LRRC3 | c.114G>A (p.Arg38=) | gnomAD v4 |
| 21 | g.44456758G>C | CA10056014 | LRRC3 | c.114G>C (p.Arg38=) | dbSNP ExAC gnomAD v4 |
| 21 | g.44456758G= | CA2391654857 | LRRC3 | c.114G= (p.Arg38=) | |
| 21 | g.44456758G>T | CA512671678 | LRRC3 | c.114G>T (p.Arg38=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44456759T>A | CA410440828 | LRRC3 | c.115T>A (p.Cys39Ser) | |
| 21 | g.44456759T>C | CA410440829 | LRRC3 | c.115T>C (p.Cys39Arg) | |
| 21 | g.44456759T>G | CA410440830 | LRRC3 | c.115T>G (p.Cys39Gly) | |
| 21 | g.44456760G>A | CA410440832 | LRRC3 | c.116G>A (p.Cys39Tyr) | dbSNP |
| 21 | g.44456760G>C | CA410440835 | LRRC3 | c.116G>C (p.Cys39Ser) | |
| 21 | g.44456760G= | CA2391654858 | LRRC3 | c.116G= (p.Cys39=) | |
| 21 | g.44456760G>T | CA410440838 | LRRC3 | c.116G>T (p.Cys39Phe) | gnomAD v4 |
| 21 | g.44456761C>A | CA410440841 | LRRC3 | c.117C>A (p.Cys39Ter) | |
| 21 | g.44456761C>G | CA410440844 | LRRC3 | c.117C>G (p.Cys39Trp) | gnomAD v4 |
| 21 | g.44456761C>T | CA512671679 | LRRC3 | c.117C>T (p.Cys39=) | gnomAD v4 |
| 21 | g.44456762C>A | CA410440847 | LRRC3 | c.118C>A (p.Pro40Thr) | |
| 21 | g.44456762C>G | CA410440851 | LRRC3 | c.118C>G (p.Pro40Ala) | |
| 21 | g.44456762C>T | CA410440857 | LRRC3 | c.118C>T (p.Pro40Ser) | |
| 21 | g.44456763C>A | CA410440871 | LRRC3 | c.119C>A (p.Pro40His) | |
| 21 | g.44456763C>G | CA410440868 | LRRC3 | c.119C>G (p.Pro40Arg) | |
| 21 | g.44456763C>T | CA410440862 | LRRC3 | c.119C>T (p.Pro40Leu) | gnomAD v4 |
| 21 | g.44456764_44456765insTCT | CA2654822821 | LRRC3 | c.120_121insTCT (p.Pro40_Asp41insSer) | gnomAD v4 |
| 21 | g.44456764T>A | CA512671684 | LRRC3 | c.120T>A (p.Pro40=) | |
| 21 | g.44456764T>C | CA512671685 | LRRC3 | c.120T>C (p.Pro40=) | |
| 21 | g.44456764T>G | CA512671686 | LRRC3 | c.120T>G (p.Pro40=) | |
| 21 | g.44456765G>A | CA410440874 | LRRC3 | c.121G>A (p.Asp41Asn) | |
| 21 | g.44456765G>C | CA410440877 | LRRC3 | c.121G>C (p.Asp41His) | |
| 21 | g.44456765G>T | CA410440880 | LRRC3 | c.121G>T (p.Asp41Tyr) | |
| 21 | g.44456766A>C | CA410440881 | LRRC3 | c.122A>C (p.Asp41Ala) | |
| 21 | g.44456766A>G | CA410440882 | LRRC3 | c.122A>G (p.Asp41Gly) | |
| 21 | g.44456766A>T | CA410440883 | LRRC3 | c.122A>T (p.Asp41Val) | dbSNP |
| 21 | g.44456766_44456767del | CA2654822824 | LRRC3 | c.122_123del (p.Asp41AlafsTer?) | gnomAD v4 |
| 21 | g.44456767C>A | CA410440887 | LRRC3 | c.123C>A (p.Asp41Glu) | |
| 21 | g.44456767C= | CA2391654859 | LRRC3 | c.123C= (p.Asp41=) | |
| 21 | g.44456767C>G | CA410440888 | LRRC3 | c.123C>G (p.Asp41Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456767C>T | CA512671691 | LRRC3 | c.123C>T (p.Asp41=) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456768C>A | CA410440892 | LRRC3 | c.124C>A (p.His42Asn) | |
| 21 | g.44456768C= | CA2391654860 | LRRC3 | c.124C= (p.His42=) | |
| 21 | g.44456768C>G | CA410440894 | LRRC3 | c.124C>G (p.His42Asp) | |
| 21 | g.44456768C>T | CA410440896 | LRRC3 | c.124C>T (p.His42Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456769A>C | CA410440897 | LRRC3 | c.125A>C (p.His42Pro) | |
| 21 | g.44456769A>G | CA410440898 | LRRC3 | c.125A>G (p.His42Arg) | |
| 21 | g.44456769A>T | CA410440903 | LRRC3 | c.125A>T (p.His42Leu) | |
| 21 | g.44456770del | CA2654822830 | LRRC3 | c.126del (p.His42GlnfsTer28) | gnomAD v4 |
| 21 | g.44456770C>A | CA410440913 | LRRC3 | c.126C>A (p.His42Gln) | |
| 21 | g.44456770C= | CA2391654861 | LRRC3 | c.126C= (p.His42=) | |
| 21 | g.44456770C>G | CA410440916 | LRRC3 | c.126C>G (p.His42Gln) | |
| 21 | g.44456770C>T | CA10056015 | LRRC3 | c.126C>T (p.His42=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456771G>A | CA410440918 | LRRC3 | c.127G>A (p.Ala43Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456771G>C | CA410440919 | LRRC3 | c.127G>C (p.Ala43Pro) | |
| 21 | g.44456771G= | CA2391654862 | LRRC3 | c.127G= (p.Ala43=) | |
| 21 | g.44456771G>T | CA10056016 | LRRC3 | c.127G>T (p.Ala43Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44456772C>A | CA410440920 | LRRC3 | c.128C>A (p.Ala43Glu) | gnomAD v4 |
| 21 | g.44456772C>G | CA410440922 | LRRC3 | c.128C>G (p.Ala43Gly) | |
| 21 | g.44456772C>T | CA410440924 | LRRC3 | c.128C>T (p.Ala43Val) | |
| 21 | g.44456773A= | CA2391654863 | LRRC3 | c.129A= (p.Ala43=) | |
| 21 | g.44456773A>C | CA512671701 | LRRC3 | c.129A>C (p.Ala43=) | |
| 21 | g.44456773A>G | CA10056017 | LRRC3 | c.129A>G (p.Ala43=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456773A>T | CA512671702 | LRRC3 | c.129A>T (p.Ala43=) | |
| 21 | g.44456774G>A | CA410440928 | LRRC3 | c.130G>A (p.Gly44Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456774G>C | CA410440933 | LRRC3 | c.130G>C (p.Gly44Arg) | |
| 21 | g.44456774G= | CA2391654864 | LRRC3 | c.130G= (p.Gly44=) | |
| 21 | g.44456774G>T | CA410440934 | LRRC3 | c.130G>T (p.Gly44Trp) | |
| 21 | g.44456775G>A | CA410440937 | LRRC3 | c.131G>A (p.Gly44Glu) | |
| 21 | g.44456775G>C | CA410440938 | LRRC3 | c.131G>C (p.Gly44Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456775G= | CA2391654865 | LRRC3 | c.131G= (p.Gly44=) | |
| 21 | g.44456775G>T | CA410440939 | LRRC3 | c.131G>T (p.Gly44Val) | |
| 21 | g.44456776G>A | CA10056018 | LRRC3 | c.132G>A (p.Gly44=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456776G>C | CA512671703 | LRRC3 | c.132G>C (p.Gly44=) | |
| 21 | g.44456776G= | CA2391654866 | LRRC3 | c.132G= (p.Gly44=) | |
| 21 | g.44456776G>T | CA512671705 | LRRC3 | c.132G>T (p.Gly44=) | gnomAD v4 |
| 21 | g.44456782_44456787dup | CA2654822840 | LRRC3 | c.138_143dup (p.Val48_Phe49insAlaVal) | gnomAD v4 |
| 21 | g.44456777G>A | CA410440943 | LRRC3 | c.133G>A (p.Ala45Thr) | dbSNP |
| 21 | g.44456777G>C | CA10056019 | LRRC3 | c.133G>C (p.Ala45Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456777G= | CA2391654867 | LRRC3 | c.133G= (p.Ala45=) | |
| 21 | g.44456777G>T | CA410440946 | LRRC3 | c.133G>T (p.Ala45Ser) | |
| 21 | g.44456778C>A | CA410440947 | LRRC3 | c.134C>A (p.Ala45Asp) | |
| 21 | g.44456778C= | CA2391654868 | LRRC3 | c.134C= (p.Ala45=) | |
| 21 | g.44456778C>G | CA410440948 | LRRC3 | c.134C>G (p.Ala45Gly) | |
| 21 | g.44456778C>T | CA410440950 | LRRC3 | c.134C>T (p.Ala45Val) | ClinVar dbSNP gnomAD v4 |
| 21 | g.44456779T>A | CA512671709 | LRRC3 | c.135T>A (p.Ala45=) | |
| 21 | g.44456779T>C | CA10056020 | LRRC3 | c.135T>C (p.Ala45=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456779T>G | CA512671710 | LRRC3 | c.135T>G (p.Ala45=) | |
| 21 | g.44456779T= | CA2391654869 | LRRC3 | c.135T= (p.Ala45=) | |
| 21 | g.44456780G>A | CA410440954 | LRRC3 | c.136G>A (p.Val46Met) | gnomAD v4 |
| 21 | g.44456780G>C | CA410440963 | LRRC3 | c.136G>C (p.Val46Leu) | |
| 21 | g.44456780G= | CA2391654870 | LRRC3 | c.136G= (p.Val46=) | |
| 21 | g.44456780G>T | CA410440964 | LRRC3 | c.136G>T (p.Val46Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456781T>A | CA410440965 | LRRC3 | c.137T>A (p.Val46Glu) | |
| 21 | g.44456781T>C | CA410440968 | LRRC3 | c.137T>C (p.Val46Ala) | |
| 21 | g.44456781T>G | CA410440970 | LRRC3 | c.137T>G (p.Val46Gly) | |
| 21 | g.44456782G>A | CA512671714 | LRRC3 | c.138G>A (p.Val46=) | |
| 21 | g.44456782G>C | CA512671715 | LRRC3 | c.138G>C (p.Val46=) | |
| 21 | g.44456782G>T | CA512671717 | LRRC3 | c.138G>T (p.Val46=) | |
| 21 | g.44456783G>A | CA410440979 | LRRC3 | c.139G>A (p.Ala47Thr) | dbSNP COSMIC |
| 21 | g.44456783G>C | CA410440984 | LRRC3 | c.139G>C (p.Ala47Pro) | |
| 21 | g.44456783G>T | CA410440976 | LRRC3 | c.139G>T (p.Ala47Ser) | COSMIC |
| 21 | g.44456784_44456786del | CA2654822851 | LRRC3 | c.140_142del (p.Ala47del) | gnomAD v4 |
| 21 | g.44456784C>A | CA410440987 | LRRC3 | c.140C>A (p.Ala47Asp) | |
| 21 | g.44456784C= | CA2391654871 | LRRC3 | c.140C= (p.Ala47=) | |
| 21 | g.44456784C>G | CA410440989 | LRRC3 | c.140C>G (p.Ala47Gly) | |
| 21 | g.44456784C>T | CA410440993 | LRRC3 | c.140C>T (p.Ala47Val) | dbSNP |
| 21 | g.44456785T>A | CA512671723 | LRRC3 | c.141T>A (p.Ala47=) | |
| 21 | g.44456785T>C | CA512671725 | LRRC3 | c.141T>C (p.Ala47=) | dbSNP |
| 21 | g.44456785T>G | CA512671724 | LRRC3 | c.141T>G (p.Ala47=) | |
| 21 | g.44456785T= | CA2391654872 | LRRC3 | c.141T= (p.Ala47=) | |
| 21 | g.44456786G>A | CA410440995 | LRRC3 | c.142G>A (p.Val48Ile) | |
| 21 | g.44456786G>C | CA410440996 | LRRC3 | c.142G>C (p.Val48Leu) | |
| 21 | g.44456786G>T | CA410440998 | LRRC3 | c.142G>T (p.Val48Phe) | gnomAD v4 |
| 21 | g.44456786_44456787insGG | CA321807096 | LRRC3 | c.142_143insGG (p.Val48GlyfsTer23) | dbSNP |
| 21 | g.44456787T>A | CA410440999 | LRRC3 | c.143T>A (p.Val48Asp) | |
| 21 | g.44456787T>C | CA410441000 | LRRC3 | c.143T>C (p.Val48Ala) | |
| 21 | g.44456787T>G | CA410441001 | LRRC3 | c.143T>G (p.Val48Gly) | gnomAD v4 |
| 21 | g.44456788C>A | CA512671726 | LRRC3 | c.144C>A (p.Val48=) | |
| 21 | g.44456788C>G | CA512671727 | LRRC3 | c.144C>G (p.Val48=) | |
| 21 | g.44456788C>T | CA512671728 | LRRC3 | c.144C>T (p.Val48=) | gnomAD v4 |
| 21 | g.44456789T>A | CA410441003 | LRRC3 | c.145T>A (p.Phe49Ile) | |
| 21 | g.44456789T>C | CA410441004 | LRRC3 | c.145T>C (p.Phe49Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456789T>G | CA410441009 | LRRC3 | c.145T>G (p.Phe49Val) | |
| 21 | g.44456789T= | CA2391654873 | LRRC3 | c.145T= (p.Phe49=) | |
| 21 | g.44456790T>A | CA410441013 | LRRC3 | c.146T>A (p.Phe49Tyr) | |
| 21 | g.44456790T>C | CA410441011 | LRRC3 | c.146T>C (p.Phe49Ser) | |
| 21 | g.44456790T>G | CA410441010 | LRRC3 | c.146T>G (p.Phe49Cys) | |
| 21 | g.44456791C>A | CA410441015 | LRRC3 | c.147C>A (p.Phe49Leu) | |
| 21 | g.44456791C= | CA2391654874 | LRRC3 | c.147C= (p.Phe49=) | |
| 21 | g.44456791C>G | CA410441021 | LRRC3 | c.147C>G (p.Phe49Leu) | |
| 21 | g.44456791C>T | CA10056021 | LRRC3 | c.147C>T (p.Phe49=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.44456792T>A | CA410441027 | LRRC3 | c.148T>A (p.Cys50Ser) | |
| 21 | g.44456792T>C | CA410441028 | LRRC3 | c.148T>C (p.Cys50Arg) | gnomAD v4 COSMIC |
| 21 | g.44456792T>G | CA410441034 | LRRC3 | c.148T>G (p.Cys50Gly) | |
| 21 | g.44456793G>A | CA321807110 | LRRC3 | c.149G>A (p.Cys50Tyr) | dbSNP |
| 21 | g.44456793G>C | CA410441036 | LRRC3 | c.149G>C (p.Cys50Ser) | |
| 21 | g.44456793G= | CA2391654875 | LRRC3 | c.149G= (p.Cys50=) | |
| 21 | g.44456793G>T | CA410441037 | LRRC3 | c.149G>T (p.Cys50Phe) | |
| 21 | g.44456794C>A | CA410441038 | LRRC3 | c.150C>A (p.Cys50Ter) | |
| 21 | g.44456794C>G | CA410441039 | LRRC3 | c.150C>G (p.Cys50Trp) | |
| 21 | g.44456794C>T | CA512671736 | LRRC3 | c.150C>T (p.Cys50=) | |
| 21 | g.44456795A>C | CA410441041 | LRRC3 | c.151A>C (p.Ser51Arg) | |
| 21 | g.44456795A>G | CA410441043 | LRRC3 | c.151A>G (p.Ser51Gly) | |
| 21 | g.44456795A>T | CA410441045 | LRRC3 | c.151A>T (p.Ser51Cys) | |
| 21 | g.44456796G>A | CA410441051 | LRRC3 | c.152G>A (p.Ser51Asn) | |
| 21 | g.44456796G>C | CA410441053 | LRRC3 | c.152G>C (p.Ser51Thr) | |
| 21 | g.44456796G>T | CA410441050 | LRRC3 | c.152G>T (p.Ser51Ile) | |
| 21 | g.44456797C>A | CA410441055 | LRRC3 | c.153C>A (p.Ser51Arg) | gnomAD v4 |
| 21 | g.44456797C= | CA2391654876 | LRRC3 | c.153C= (p.Ser51=) | |
| 21 | g.44456797C>G | CA410441057 | LRRC3 | c.153C>G (p.Ser51Arg) | |
| 21 | g.44456797C>T | CA512671739 | LRRC3 | c.153C>T (p.Ser51=) | gnomAD v4 |
| 21 | g.44456798T>A | CA410441059 | LRRC3 | c.154T>A (p.Leu52Met) | |
| 21 | g.44456798T>C | CA512671740 | LRRC3 | c.154T>C (p.Leu52=) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456798T>G | CA410441060 | LRRC3 | c.154T>G (p.Leu52Val) | |
| 21 | g.44456798T= | CA2391654878 | LRRC3 | c.154T= (p.Leu52=) | |
| 21 | g.44456799dup | CA2391654877 | LRRC3 | c.155dup (p.Leu52PhefsTer?) | dbSNP |
| 21 | g.44456799T>A | CA410441061 | LRRC3 | c.155T>A (p.Leu52Ter) | |
| 21 | g.44456799T>C | CA410441062 | LRRC3 | c.155T>C (p.Leu52Ser) | |
| 21 | g.44456799T>G | CA410441064 | LRRC3 | c.155T>G (p.Leu52Trp) | |
| 21 | g.44456800G>A | CA512671746 | LRRC3 | c.156G>A (p.Leu52=) | gnomAD v4 |
| 21 | g.44456800G>C | CA410441067 | LRRC3 | c.156G>C (p.Leu52Phe) | gnomAD v4 |
| 21 | g.44456800G>T | CA410441068 | LRRC3 | c.156G>T (p.Leu52Phe) | gnomAD v4 |
| 21 | g.44456801del | CA2654822865 | LRRC3 | c.157del (p.Arg53GlyfsTer17) | gnomAD v4 |
| 21 | g.44456801C>A | CA512671748 | LRRC3 | c.157C>A (p.Arg53=) | |
| 21 | g.44456801C= | CA2391654879 | LRRC3 | c.157C= (p.Arg53=) | |
| 21 | g.44456801C>G | CA410441073 | LRRC3 | c.157C>G (p.Arg53Gly) | |
| 21 | g.44456801C>T | CA10056022 | LRRC3 | c.157C>T (p.Arg53Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456802G>A | CA10056023 | LRRC3 | c.158G>A (p.Arg53Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456802G>C | CA410441077 | LRRC3 | c.158G>C (p.Arg53Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456802G= | CA2391654881 | LRRC3 | c.158G= (p.Arg53=) | |
| 21 | g.44456802G>T | CA410441078 | LRRC3 | c.158G>T (p.Arg53Leu) | |
| 21 | g.44456805dup | CA2391654880 | LRRC3 | c.161dup (p.Leu55ProfsTer?) | dbSNP |
| 21 | g.44456805del | CA2654822869 | LRRC3 | c.161del (p.Gly54AlafsTer16) | gnomAD v4 |
| 21 | g.44456803G>A | CA512671750 | LRRC3 | c.159G>A (p.Arg53=) | |
| 21 | g.44456803G>C | CA512671751 | LRRC3 | c.159G>C (p.Arg53=) | gnomAD v4 |
| 21 | g.44456803G>T | CA512671752 | LRRC3 | c.159G>T (p.Arg53=) | |
| 21 | g.44456804G>A | CA410441080 | LRRC3 | c.160G>A (p.Gly54Ser) | |
| 21 | g.44456804G>C | CA10056024 | LRRC3 | c.160G>C (p.Gly54Arg) | dbSNP ExAC gnomAD v2 |
| 21 | g.44456804G= | CA2391654882 | LRRC3 | c.160G= (p.Gly54=) | |
| 21 | g.44456804G>T | CA410441082 | LRRC3 | c.160G>T (p.Gly54Cys) | |
| 21 | g.44456805G>A | CA321807125 | LRRC3 | c.161G>A (p.Gly54Asp) | dbSNP |
| 21 | g.44456805G>C | CA410441086 | LRRC3 | c.161G>C (p.Gly54Ala) | gnomAD v4 |
| 21 | g.44456805G= | CA2391654883 | LRRC3 | c.161G= (p.Gly54=) | |
| 21 | g.44456805G>T | CA410441088 | LRRC3 | c.161G>T (p.Gly54Val) | dbSNP gnomAD v4 |
| 21 | g.44456806C>A | CA512671755 | LRRC3 | c.162C>A (p.Gly54=) | gnomAD v4 |
| 21 | g.44456806C= | CA2391654884 | LRRC3 | c.162C= (p.Gly54=) | |
| 21 | g.44456806C>G | CA10056025 | LRRC3 | c.162C>G (p.Gly54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456806C>T | CA10056026 | LRRC3 | c.162C>T (p.Gly54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456807C>A | CA410441093 | LRRC3 | c.163C>A (p.Leu55Ile) | |
| 21 | g.44456807C= | CA2391654885 | LRRC3 | c.163C= (p.Leu55=) | |
| 21 | g.44456807C>G | CA410441098 | LRRC3 | c.163C>G (p.Leu55Val) | |
| 21 | g.44456807C>T | CA410441100 | LRRC3 | c.163C>T (p.Leu55Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456808T>A | CA410441103 | LRRC3 | c.164T>A (p.Leu55His) | |
| 21 | g.44456808T>C | CA410441104 | LRRC3 | c.164T>C (p.Leu55Pro) | |
| 21 | g.44456808T>G | CA410441106 | LRRC3 | c.164T>G (p.Leu55Arg) | |
| 21 | g.44456809T>A | CA512671763 | LRRC3 | c.165T>A (p.Leu55=) | |
| 21 | g.44456809T>C | CA512671762 | LRRC3 | c.165T>C (p.Leu55=) | |
| 21 | g.44456809T>G | CA512671761 | LRRC3 | c.165T>G (p.Leu55=) | |
| 21 | g.44456810C>A | CA410441108 | LRRC3 | c.166C>A (p.Gln56Lys) | |
| 21 | g.44456810C= | CA2391654886 | LRRC3 | c.166C= (p.Gln56=) | |
| 21 | g.44456810C>G | CA410441110 | LRRC3 | c.166C>G (p.Gln56Glu) | |
| 21 | g.44456810C>T | CA10056027 | LRRC3 | c.166C>T (p.Gln56Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456811A= | CA2391654887 | LRRC3 | c.167A= (p.Gln56=) | |
| 21 | g.44456811A>C | CA410441112 | LRRC3 | c.167A>C (p.Gln56Pro) | |
| 21 | g.44456811A>G | CA321807137 | LRRC3 | c.167A>G (p.Gln56Arg) | dbSNP |
| 21 | g.44456811A>T | CA410441114 | LRRC3 | c.167A>T (p.Gln56Leu) | |
| 21 | g.44456812G>A | CA10056028 | LRRC3 | c.168G>A (p.Gln56=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456812G>C | CA410441119 | LRRC3 | c.168G>C (p.Gln56His) | |
| 21 | g.44456812G= | CA2391654888 | LRRC3 | c.168G= (p.Gln56=) | |
| 21 | g.44456812G>T | CA410441121 | LRRC3 | c.168G>T (p.Gln56His) | |
| 21 | g.44456813G>A | CA410441127 | LRRC3 | c.169G>A (p.Glu57Lys) | gnomAD v4 |
| 21 | g.44456813G>C | CA410441123 | LRRC3 | c.169G>C (p.Glu57Gln) | |
| 21 | g.44456813G>T | CA410441125 | LRRC3 | c.169G>T (p.Glu57Ter) | gnomAD v4 |
| 21 | g.44456814A>C | CA410441129 | LRRC3 | c.170A>C (p.Glu57Ala) | |
| 21 | g.44456814A>G | CA410441131 | LRRC3 | c.170A>G (p.Glu57Gly) | gnomAD v4 |
| 21 | g.44456814A>T | CA410441132 | LRRC3 | c.170A>T (p.Glu57Val) | |
| 21 | g.44456815G>A | CA512671769 | LRRC3 | c.171G>A (p.Glu57=) | |
| 21 | g.44456815G>C | CA410441134 | LRRC3 | c.171G>C (p.Glu57Asp) | |
| 21 | g.44456815G>T | CA410441136 | LRRC3 | c.171G>T (p.Glu57Asp) | |
| 21 | g.44456816G>A | CA410441143 | LRRC3 | c.172G>A (p.Val58Ile) | |
| 21 | g.44456816G>C | CA410441138 | LRRC3 | c.172G>C (p.Val58Leu) | |
| 21 | g.44456816G>T | CA410441142 | LRRC3 | c.172G>T (p.Val58Phe) | |
| 21 | g.44456817T>A | CA410441144 | LRRC3 | c.173T>A (p.Val58Asp) | gnomAD v4 |
| 21 | g.44456817T>C | CA410441145 | LRRC3 | c.173T>C (p.Val58Ala) | |
| 21 | g.44456817T>G | CA410441146 | LRRC3 | c.173T>G (p.Val58Gly) | |
| 21 | g.44456818C>A | CA512671772 | LRRC3 | c.174C>A (p.Val58=) | gnomAD v4 |
| 21 | g.44456818C>G | CA512671773 | LRRC3 | c.174C>G (p.Val58=) | |
| 21 | g.44456818C>T | CA512671774 | LRRC3 | c.174C>T (p.Val58=) | dbSNP gnomAD v4 |
| 21 | g.44456819C>A | CA410441148 | LRRC3 | c.175C>A (p.Pro59Thr) | |
| 21 | g.44456819C>G | CA410441149 | LRRC3 | c.175C>G (p.Pro59Ala) | |
| 21 | g.44456819C>T | CA410441150 | LRRC3 | c.175C>T (p.Pro59Ser) | gnomAD v4 |
| 21 | g.44456819_44456829delinsCCCGAGGACAT | CA2391654889 | LRRC3 | c.175_185delinsCCCGAGGACAT (p.Pro59=) | |
| 21 | g.44456820C>A | CA410441151 | LRRC3 | c.176C>A (p.Pro59His) | |
| 21 | g.44456820C>G | CA410441152 | LRRC3 | c.176C>G (p.Pro59Arg) | |
| 21 | g.44456820C>T | CA410441154 | LRRC3 | c.176C>T (p.Pro59Leu) | |
| 21 | g.44456822_44456831del | CA749712665 | LRRC3 | c.178_187del (p.Glu60ArgfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456821C>A | CA512671779 | LRRC3 | c.177C>A (p.Pro59=) | |
| 21 | g.44456821C= | CA2391654890 | LRRC3 | c.177C= (p.Pro59=) | |
| 21 | g.44456821C>G | CA512671781 | LRRC3 | c.177C>G (p.Pro59=) | |
| 21 | g.44456821C>T | CA10056029 | LRRC3 | c.177C>T (p.Pro59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44456822G>A | CA10056030 | LRRC3 | c.178G>A (p.Glu60Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456822G>C | CA410441156 | LRRC3 | c.178G>C (p.Glu60Gln) | |
| 21 | g.44456822G= | CA2391654891 | LRRC3 | c.178G= (p.Glu60=) | |
| 21 | g.44456822G>T | CA410441157 | LRRC3 | c.178G>T (p.Glu60Ter) | gnomAD v4 |
| 21 | g.44456823A>C | CA410441158 | LRRC3 | c.179A>C (p.Glu60Ala) | |
| 21 | g.44456823A>G | CA410441160 | LRRC3 | c.179A>G (p.Glu60Gly) | |
| 21 | g.44456823A>T | CA410441159 | LRRC3 | c.179A>T (p.Glu60Val) | |
| 21 | g.44456824G>A | CA512671785 | LRRC3 | c.180G>A (p.Glu60=) | |
| 21 | g.44456824G>C | CA410441162 | LRRC3 | c.180G>C (p.Glu60Asp) | |
| 21 | g.44456824G>T | CA410441163 | LRRC3 | c.180G>T (p.Glu60Asp) | |
| 21 | g.44456825G>A | CA410441165 | LRRC3 | c.181G>A (p.Asp61Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44456825G>C | CA410441166 | LRRC3 | c.181G>C (p.Asp61His) | |
| 21 | g.44456825G= | CA2391654892 | LRRC3 | c.181G= (p.Asp61=) | |
| 21 | g.44456825G>T | CA410441167 | LRRC3 | c.181G>T (p.Asp61Tyr) | |
| 21 | g.44456826A= | CA2391654893 | LRRC3 | c.182A= (p.Asp61=) | |
| 21 | g.44456826A>C | CA410441168 | LRRC3 | c.182A>C (p.Asp61Ala) | |
| 21 | g.44456826A>G | CA410441169 | LRRC3 | c.182A>G (p.Asp61Gly) | |
| 21 | g.44456826A>T | CA410441171 | LRRC3 | c.182A>T (p.Asp61Val) | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44456827C>A | CA410441172 | LRRC3 | c.183C>A (p.Asp61Glu) | |
| 21 | g.44456827C>G | CA410441173 | LRRC3 | c.183C>G (p.Asp61Glu) | |
| 21 | g.44456827C>T | CA512671790 | LRRC3 | c.183C>T (p.Asp61=) | gnomAD v4 |
| 21 | g.44456828A>C | CA410441174 | LRRC3 | c.184A>C (p.Ile62Leu) | |
| 21 | g.44456828A>G | CA410441175 | LRRC3 | c.184A>G (p.Ile62Val) | gnomAD v4 |
| 21 | g.44456828A>T | CA410441176 | LRRC3 | c.184A>T (p.Ile62Phe) | |
| 21 | g.44456829T>A | CA410441179 | LRRC3 | c.185T>A (p.Ile62Asn) | gnomAD v4 |
| 21 | g.44456829T>C | CA410441181 | LRRC3 | c.185T>C (p.Ile62Thr) | |
| 21 | g.44456829T>G | CA410441180 | LRRC3 | c.185T>G (p.Ile62Ser) | |
| 21 | g.44456830C>A | CA512671796 | LRRC3 | c.186C>A (p.Ile62=) | |
| 21 | g.44456830C>G | CA410441182 | LRRC3 | c.186C>G (p.Ile62Met) | |
| 21 | g.44456830C>T | CA512671797 | LRRC3 | c.186C>T (p.Ile62=) | |
| 21 | g.44456831C>A | CA410441183 | LRRC3 | c.187C>A (p.Pro63Thr) | |
| 21 | g.44456831C>G | CA410441184 | LRRC3 | c.187C>G (p.Pro63Ala) | |
| 21 | g.44456831C>T | CA410441185 | LRRC3 | c.187C>T (p.Pro63Ser) | |
| 21 | g.44456832C>A | CA410441186 | LRRC3 | c.188C>A (p.Pro63Gln) | |
| 21 | g.44456832C= | CA2391654894 | LRRC3 | c.188C= (p.Pro63=) | |
| 21 | g.44456832C>G | CA410441187 | LRRC3 | c.188C>G (p.Pro63Arg) | |
| 21 | g.44456832C>T | CA10056031 | LRRC3 | c.188C>T (p.Pro63Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456833G>A | CA10056032 | LRRC3 | c.189G>A (p.Pro63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.44456833G>C | CA512671804 | LRRC3 | c.189G>C (p.Pro63=) | |
| 21 | g.44456833G= | CA2391654895 | LRRC3 | c.189G= (p.Pro63=) | |
| 21 | g.44456833G>T | CA512671802 | LRRC3 | c.189G>T (p.Pro63=) | |
| 21 | g.44456834G>A | CA10056033 | LRRC3 | c.190G>A (p.Ala64Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44456834G>C | CA410441188 | LRRC3 | c.190G>C (p.Ala64Pro) | |
| 21 | g.44456834G= | CA2391654896 | LRRC3 | c.190G= (p.Ala64=) | |
| 21 | g.44456834G>T | CA410441189 | LRRC3 | c.190G>T (p.Ala64Ser) | gnomAD v4 |
| 21 | g.44456835C>A | CA410441191 | LRRC3 | c.191C>A (p.Ala64Asp) | gnomAD v4 |
| 21 | g.44456835C>G | CA410441193 | LRRC3 | c.191C>G (p.Ala64Gly) | |
| 21 | g.44456835C>T | CA410441190 | LRRC3 | c.191C>T (p.Ala64Val) | COSMIC |
| 21 | g.44456836C>A | CA512671806 | LRRC3 | c.192C>A (p.Ala64=) | |
| 21 | g.44456836C>G | CA512671808 | LRRC3 | c.192C>G (p.Ala64=) | |
| 21 | g.44456836C>T | CA512671809 | LRRC3 | c.192C>T (p.Ala64=) | |
| 21 | g.44456837A>C | CA410441195 | LRRC3 | c.193A>C (p.Asn65His) | |
| 21 | g.44456837A>G | CA410441194 | LRRC3 | c.193A>G (p.Asn65Asp) | |
| 21 | g.44456837A>T | CA410441196 | LRRC3 | c.193A>T (p.Asn65Tyr) | |
| 21 | g.44456837_44456838insCGAGG | CA2654822903 | LRRC3 | c.193_194insCGAGG (p.Asn65ThrfsTer7) | gnomAD v4 |
| 21 | g.44456838A>C | CA410441197 | LRRC3 | c.194A>C (p.Asn65Thr) | |
| 21 | g.44456838A>G | CA410441198 | LRRC3 | c.194A>G (p.Asn65Ser) | |
| 21 | g.44456838A>T | CA410441199 | LRRC3 | c.194A>T (p.Asn65Ile) |