| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155904494A= | CA1148224778 | RIT1 | c.254T= (p.Leu85=) c.138T= (p.Phe46=) c.223T= (p.Tyr75=) c.246T= (p.Phe82=) c.249T= (p.Phe83=) c.297T= (p.Phe99=) | |
| 1 | g.155904494A>C | CA297161 | RIT1 | c.254T>G (p.Leu85Ter) c.138T>G (p.Phe46Leu) c.223T>G (p.Tyr75Asp) c.246T>G (p.Phe82Leu) c.249T>G (p.Phe83Leu) c.297T>G (p.Phe99Leu) | ClinVar dbSNP COSMIC |
| 1 | g.155904494A>G | CA421059352 | RIT1 | c.254T>C (p.Leu85Ser) c.138T>C (p.Phe46=) c.223T>C (p.Tyr75His) c.246T>C (p.Phe82=) c.249T>C (p.Phe83=) c.297T>C (p.Phe99=) | dbSNP gnomAD v2 |
| 1 | g.155904494A>T | CA16040628 | RIT1 | c.254T>A (p.Leu85Ter) c.138T>A (p.Phe46Leu) c.223T>A (p.Tyr75Asn) c.246T>A (p.Phe82Leu) c.249T>A (p.Phe83Leu) c.297T>A (p.Phe99Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.155904495A= | CA1200375958 | RIT1 | c.253T= (p.Leu85=) c.137T= (p.Phe46=) c.222T= (p.Val74=) c.245T= (p.Phe82=) c.248T= (p.Phe83=) c.296T= (p.Phe99=) | |
| 1 | g.155904495A>C | CA16042308 | RIT1 | c.253T>G (p.Leu85Val) c.137T>G (p.Phe46Cys) c.222T>G (p.Val74=) c.245T>G (p.Phe82Cys) c.248T>G (p.Phe83Cys) c.296T>G (p.Phe99Cys) | ClinVar dbSNP COSMIC |
| 1 | g.155904495A>G | CA342802950 | RIT1 | c.253T>C (p.Leu85=) c.137T>C (p.Phe46Ser) c.222T>C (p.Val74=) c.245T>C (p.Phe82Ser) c.248T>C (p.Phe83Ser) c.296T>C (p.Phe99Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904495A>T | CA342802953 | RIT1 | c.253T>A (p.Leu85Ile) c.137T>A (p.Phe46Tyr) c.222T>A (p.Val74=) c.245T>A (p.Phe82Tyr) c.248T>A (p.Phe83Tyr) c.296T>A (p.Phe99Tyr) | |
| 1 | g.155904496A= | CA1200375959 | RIT1 | c.252T= (p.Ser84=) c.136T= (p.Phe46=) c.221T= (p.Val74=) c.244T= (p.Phe82=) c.247T= (p.Phe83=) c.295T= (p.Phe99=) | |
| 1 | g.155904496A>C | CA353883 | RIT1 | c.252T>G (p.Ser84Arg) c.136T>G (p.Phe46Val) c.221T>G (p.Val74Gly) c.244T>G (p.Phe82Val) c.247T>G (p.Phe83Val) c.295T>G (p.Phe99Val) | ClinVar dbSNP |
| 1 | g.155904496A>G | CA353877 | RIT1 | c.252T>C (p.Ser84=) c.136T>C (p.Phe46Leu) c.221T>C (p.Val74Ala) c.244T>C (p.Phe82Leu) c.247T>C (p.Phe83Leu) c.295T>C (p.Phe99Leu) | ClinVar dbSNP |
| 1 | g.155904496A>T | CA353868 | RIT1 | c.252T>A (p.Ser84Arg) c.136T>A (p.Phe46Ile) c.221T>A (p.Val74Asp) c.244T>A (p.Phe82Ile) c.247T>A (p.Phe83Ile) c.295T>A (p.Phe99Ile) | ClinVar dbSNP |
| 1 | g.155904497C>A | CA342802960 | RIT1 | c.251G>T (p.Ser84Ile) c.135G>T (p.Glu45Asp) c.220G>T (p.Val74Phe) c.243G>T (p.Glu81Asp) c.246G>T (p.Glu82Asp) c.294G>T (p.Glu98Asp) | |
| 1 | g.155904497C>G | CA342802962 | RIT1 | c.251G>C (p.Ser84Thr) c.135G>C (p.Glu45Asp) c.220G>C (p.Val74Leu) c.243G>C (p.Glu81Asp) c.246G>C (p.Glu82Asp) c.294G>C (p.Glu98Asp) | gnomAD v4 |
| 1 | g.155904497C>T | CA421059354 | RIT1 | c.251G>A (p.Ser84Asn) c.135G>A (p.Glu45=) c.220G>A (p.Val74Ile) c.243G>A (p.Glu81=) c.246G>A (p.Glu82=) c.294G>A (p.Glu98=) | |
| 1 | g.155904498T>A | CA342802966 | RIT1 | c.250A>T (p.Ser84Cys) c.134A>T (p.Glu45Val) c.219A>T (p.Arg73Ser) c.242A>T (p.Glu81Val) c.245A>T (p.Glu82Val) c.293A>T (p.Glu98Val) | |
| 1 | g.155904498T>C | CA353880 | RIT1 | c.250A>G (p.Ser84Gly) c.134A>G (p.Glu45Gly) c.219A>G (p.Arg73=) c.242A>G (p.Glu81Gly) c.245A>G (p.Glu82Gly) c.293A>G (p.Glu98Gly) | ClinVar dbSNP |
| 1 | g.155904498T>G | CA342802970 | RIT1 | c.250A>C (p.Ser84Arg) c.134A>C (p.Glu45Ala) c.219A>C (p.Arg73Ser) c.242A>C (p.Glu81Ala) c.245A>C (p.Glu82Ala) c.293A>C (p.Glu98Ala) | |
| 1 | g.155904498T= | CA1200375960 | RIT1 | c.250A= (p.Ser84=) c.134A= (p.Glu45=) c.219A= (p.Arg73=) c.242A= (p.Glu81=) c.245A= (p.Glu82=) c.293A= (p.Glu98=) | |
| 1 | g.155904499C>A | CA342802971 | RIT1 | c.249G>T (p.Gln83His) c.133G>T (p.Glu45Ter) c.218G>T (p.Arg73Ile) c.241G>T (p.Glu81Ter) c.244G>T (p.Glu82Ter) c.292G>T (p.Glu98Ter) | |
| 1 | g.155904499C= | CA1200375961 | RIT1 | c.249G= (p.Gln83=) c.133G= (p.Glu45=) c.218G= (p.Arg73=) c.241G= (p.Glu81=) c.244G= (p.Glu82=) c.292G= (p.Glu98=) | |
| 1 | g.155904499C>G | CA353878 | RIT1 | c.249G>C (p.Gln83His) c.133G>C (p.Glu45Gln) c.218G>C (p.Arg73Thr) c.241G>C (p.Glu81Gln) c.244G>C (p.Glu82Gln) c.292G>C (p.Glu98Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.155904499C>T | CA342802974 | RIT1 | c.249G>A (p.Gln83=) c.133G>A (p.Glu45Lys) c.218G>A (p.Arg73Lys) c.241G>A (p.Glu81Lys) c.244G>A (p.Glu82Lys) c.292G>A (p.Glu98Lys) | |
| 1 | g.155904500T>A | CA421059355 | RIT1 | c.248A>T (p.Gln83Leu) c.132A>T (p.Ala44=) c.217A>T (p.Arg73Ter) c.240A>T (p.Ala80=) c.243A>T (p.Ala81=) c.291A>T (p.Ala97=) | |
| 1 | g.155904500T>C | CA421059357 | RIT1 | c.248A>G (p.Gln83Arg) c.132A>G (p.Ala44=) c.217A>G (p.Arg73Gly) c.240A>G (p.Ala80=) c.243A>G (p.Ala81=) c.291A>G (p.Ala97=) | gnomAD v4 |
| 1 | g.155904500T>G | CA421059356 | RIT1 | c.248A>C (p.Gln83Pro) c.132A>C (p.Ala44=) c.217A>C (p.Arg73=) c.240A>C (p.Ala80=) c.243A>C (p.Ala81=) c.291A>C (p.Ala97=) | |
| 1 | g.155904501G>A | CA1151816 | RIT1 | c.247C>T (p.Gln83Ter) c.131C>T (p.Ala44Val) c.216C>T (p.Gly72=) c.239C>T (p.Ala80Val) c.242C>T (p.Ala81Val) c.290C>T (p.Ala97Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155904501G>C | CA342802978 | RIT1 | c.247C>G (p.Gln83Glu) c.131C>G (p.Ala44Gly) c.216C>G (p.Gly72=) c.239C>G (p.Ala80Gly) c.242C>G (p.Ala81Gly) c.290C>G (p.Ala97Gly) | gnomAD v4 |
| 1 | g.155904501G= | CA1200375962 | RIT1 | c.247C= (p.Gln83=) c.131C= (p.Ala44=) c.216C= (p.Gly72=) c.239C= (p.Ala80=) c.242C= (p.Ala81=) c.290C= (p.Ala97=) | |
| 1 | g.155904501G>T | CA1151817 | RIT1 | c.247C>A (p.Gln83Lys) c.131C>A (p.Ala44Glu) c.216C>A (p.Gly72=) c.239C>A (p.Ala80Glu) c.242C>A (p.Ala81Glu) c.290C>A (p.Ala97Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155904502C>A | CA342802980 | RIT1 | c.246G>T (p.Arg82Ser) c.130G>T (p.Ala44Ser) c.215G>T (p.Gly72Val) c.238G>T (p.Ala80Ser) c.241G>T (p.Ala81Ser) c.289G>T (p.Ala97Ser) | |
| 1 | g.155904502C= | CA1200375963 | RIT1 | c.246G= (p.Arg82=) c.130G= (p.Ala44=) c.215G= (p.Gly72=) c.238G= (p.Ala80=) c.241G= (p.Ala81=) c.289G= (p.Ala97=) | |
| 1 | g.155904502C>G | CA342802983 | RIT1 | c.246G>C (p.Arg82Ser) c.130G>C (p.Ala44Pro) c.215G>C (p.Gly72Ala) c.238G>C (p.Ala80Pro) c.241G>C (p.Ala81Pro) c.289G>C (p.Ala97Pro) | |
| 1 | g.155904502C>T | CA1151818 | RIT1 | c.246G>A (p.Arg82=) c.130G>A (p.Ala44Thr) c.215G>A (p.Gly72Asp) c.238G>A (p.Ala80Thr) c.241G>A (p.Ala81Thr) c.289G>A (p.Ala97Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155904503C>A | CA342802987 | RIT1 | c.246-1G>T (n.246-1G>T) c.130-1G>T (n.130-1G>T) c.215-1G>T (n.215-1G>T) c.238-1G>T (n.238-1G>T) c.241-1G>T (n.241-1G>T) c.289-1G>T (n.289-1G>T) | |
| 1 | g.155904503C= | CA1200375964 | RIT1 | c.246-1G= (n.246-1G=) c.130-1G= (n.130-1G=) c.215-1G= (n.215-1G=) c.238-1G= (n.238-1G=) c.241-1G= (n.241-1G=) c.289-1G= (n.289-1G=) | |
| 1 | g.155904503C>G | CA342802988 | RIT1 | c.246-1G>C (n.246-1G>C) c.130-1G>C (n.130-1G>C) c.215-1G>C (n.215-1G>C) c.238-1G>C (n.238-1G>C) c.241-1G>C (n.241-1G>C) c.289-1G>C (n.289-1G>C) | |
| 1 | g.155904503C>T | CA342802990 | RIT1 | c.246-1G>A (n.246-1G>A) c.130-1G>A (n.130-1G>A) c.215-1G>A (n.215-1G>A) c.238-1G>A (n.238-1G>A) c.241-1G>A (n.241-1G>A) c.289-1G>A (n.289-1G>A) | |
| 1 | g.155904504T>A | CA342802995 | RIT1 | c.246-2A>T (n.246-2A>T) c.130-2A>T (n.130-2A>T) c.215-2A>T (n.215-2A>T) c.238-2A>T (n.238-2A>T) c.241-2A>T (n.241-2A>T) c.289-2A>T (n.289-2A>T) | |
| 1 | g.155904504T>C | CA342802997 | RIT1 | c.246-2A>G (n.246-2A>G) c.130-2A>G (n.130-2A>G) c.215-2A>G (n.215-2A>G) c.238-2A>G (n.238-2A>G) c.241-2A>G (n.241-2A>G) c.289-2A>G (n.289-2A>G) | |
| 1 | g.155904504T>G | CA342802999 | RIT1 | c.246-2A>C (n.246-2A>C) c.130-2A>C (n.130-2A>C) c.215-2A>C (n.215-2A>C) c.238-2A>C (n.238-2A>C) c.241-2A>C (n.241-2A>C) c.289-2A>C (n.289-2A>C) | |
| 1 | g.155904504dup | CA526670250 | RIT1 | c.246-2dup (n.246-2dup) c.130-2dup (n.130-2dup) c.215-2dup (n.215-2dup) c.238-2dup (n.238-2dup) c.241-2dup (n.241-2dup) c.289-2dup (n.289-2dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904505A= | CA1200375965 | RIT1 | c.246-3T= (n.246-3T=) c.130-3T= (n.130-3T=) c.215-3T= (n.215-3T=) c.238-3T= (n.238-3T=) c.241-3T= (n.241-3T=) c.289-3T= (n.289-3T=) | |
| 1 | g.155904505A>G | CA526670251 | RIT1 | c.246-3T>C (n.246-3T>C) c.130-3T>C (n.130-3T>C) c.215-3T>C (n.215-3T>C) c.238-3T>C (n.238-3T>C) c.241-3T>C (n.241-3T>C) c.289-3T>C (n.289-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904506G>A | CA1008028696 | RIT1 | c.246-4C>T (n.246-4C>T) c.130-4C>T (n.130-4C>T) c.215-4C>T (n.215-4C>T) c.238-4C>T (n.238-4C>T) c.241-4C>T (n.241-4C>T) c.289-4C>T (n.289-4C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904506G>C | CA2524986465 | RIT1 | c.246-4C>G (n.246-4C>G) c.130-4C>G (n.130-4C>G) c.215-4C>G (n.215-4C>G) c.238-4C>G (n.238-4C>G) c.241-4C>G (n.241-4C>G) c.289-4C>G (n.289-4C>G) | |
| 1 | g.155904506G= | CA1200375966 | RIT1 | c.246-4C= (n.246-4C=) c.130-4C= (n.130-4C=) c.215-4C= (n.215-4C=) c.238-4C= (n.238-4C=) c.241-4C= (n.241-4C=) c.289-4C= (n.289-4C=) | |
| 1 | g.155904507A= | CA1200375967 | RIT1 | c.246-5T= (n.246-5T=) c.130-5T= (n.130-5T=) c.215-5T= (n.215-5T=) c.238-5T= (n.238-5T=) c.241-5T= (n.241-5T=) c.289-5T= (n.289-5T=) | |
| 1 | g.155904507A>C | CA526670252 | RIT1 | c.246-5T>G (n.246-5T>G) c.130-5T>G (n.130-5T>G) c.215-5T>G (n.215-5T>G) c.238-5T>G (n.238-5T>G) c.241-5T>G (n.241-5T>G) c.289-5T>G (n.289-5T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904508G>A | CA2526199564 | RIT1 | c.246-6C>T (n.246-6C>T) c.130-6C>T (n.130-6C>T) c.215-6C>T (n.215-6C>T) c.238-6C>T (n.238-6C>T) c.241-6C>T (n.241-6C>T) c.289-6C>T (n.289-6C>T) |