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 |
|---|---|---|---|---|---|
| 1 | g.155904400A= | CA1200375931 | RIT1 | c.*69T= (n.*69T=) c.232T= (p.Phe78=) c.*11T= (n.*11T=) c.340T= (p.Phe114=) c.343T= (p.Phe115=) c.391T= (p.Phe131=) | |
| 1 | g.155904400A>C | CA342802419 | RIT1 | c.*69T>G (n.*69T>G) c.232T>G (p.Phe78Val) c.*11T>G (n.*11T>G) c.340T>G (p.Phe114Val) c.343T>G (p.Phe115Val) c.391T>G (p.Phe131Val) | |
| 1 | g.155904400A>G | CA342802421 | RIT1 | c.*69T>C (n.*69T>C) c.232T>C (p.Phe78Leu) c.*11T>C (n.*11T>C) c.340T>C (p.Phe114Leu) c.343T>C (p.Phe115Leu) c.391T>C (p.Phe131Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904400A>T | CA342802424 | RIT1 | c.*69T>A (n.*69T>A) c.232T>A (p.Phe78Ile) c.*11T>A (n.*11T>A) c.340T>A (p.Phe114Ile) c.343T>A (p.Phe115Ile) c.391T>A (p.Phe131Ile) | |
| 1 | g.155904401C>A | CA342802426 | RIT1 | c.*68G>T (n.*68G>T) c.231G>T (p.Glu77Asp) c.*10G>T (n.*10G>T) c.339G>T (p.Glu113Asp) c.342G>T (p.Glu114Asp) c.390G>T (p.Glu130Asp) | |
| 1 | g.155904401C>G | CA342802428 | RIT1 | c.*68G>C (n.*68G>C) c.231G>C (p.Glu77Asp) c.*10G>C (n.*10G>C) c.339G>C (p.Glu113Asp) c.342G>C (p.Glu114Asp) c.390G>C (p.Glu130Asp) | |
| 1 | g.155904401C>T | CA421058927 | RIT1 | c.*68G>A (n.*68G>A) c.231G>A (p.Glu77=) c.*10G>A (n.*10G>A) c.339G>A (p.Glu113=) c.342G>A (p.Glu114=) c.390G>A (p.Glu130=) | |
| 1 | g.155904402T>A | CA342802431 | RIT1 | c.*67A>T (n.*67A>T) c.230A>T (p.Glu77Val) c.*9A>T (n.*9A>T) c.338A>T (p.Glu113Val) c.341A>T (p.Glu114Val) c.389A>T (p.Glu130Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904402T>C | CA342802433 | RIT1 | c.*67A>G (n.*67A>G) c.230A>G (p.Glu77Gly) c.*9A>G (n.*9A>G) c.338A>G (p.Glu113Gly) c.341A>G (p.Glu114Gly) c.389A>G (p.Glu130Gly) | |
| 1 | g.155904402T>G | CA342802435 | RIT1 | c.*67A>C (n.*67A>C) c.230A>C (p.Glu77Ala) c.*9A>C (n.*9A>C) c.338A>C (p.Glu113Ala) c.341A>C (p.Glu114Ala) c.389A>C (p.Glu130Ala) | dbSNP |
| 1 | g.155904402T= | CA1200375932 | RIT1 | c.*67A= (n.*67A=) c.230A= (p.Glu77=) c.*9A= (n.*9A=) c.338A= (p.Glu113=) c.341A= (p.Glu114=) c.389A= (p.Glu130=) | |
| 1 | g.155904403C>A | CA342802438 | RIT1 | c.*66G>T (n.*66G>T) c.229G>T (p.Glu77Ter) c.*8G>T (n.*8G>T) c.337G>T (p.Glu113Ter) c.340G>T (p.Glu114Ter) c.388G>T (p.Glu130Ter) | |
| 1 | g.155904403C>G | CA342802441 | RIT1 | c.*66G>C (n.*66G>C) c.229G>C (p.Glu77Gln) c.*8G>C (n.*8G>C) c.337G>C (p.Glu113Gln) c.340G>C (p.Glu114Gln) c.388G>C (p.Glu130Gln) | |
| 1 | g.155904403C>T | CA342802443 | RIT1 | c.*66G>A (n.*66G>A) c.229G>A (p.Glu77Lys) c.*8G>A (n.*8G>A) c.337G>A (p.Glu113Lys) c.340G>A (p.Glu114Lys) c.388G>A (p.Glu130Lys) | |
| 1 | g.155904404A= | CA1139849351 | RIT1 | c.*65T= (n.*65T=) c.228T= (p.Arg76=) c.*7T= (n.*7T=) c.336T= (p.Arg112=) c.339T= (p.Arg113=) c.387T= (p.Arg129=) | |
| 1 | g.155904404A>C | CA421058939 | RIT1 | c.*65T>G (n.*65T>G) c.228T>G (p.Arg76=) c.*7T>G (n.*7T>G) c.336T>G (p.Arg112=) c.339T>G (p.Arg113=) c.387T>G (p.Arg129=) | |
| 1 | g.155904404A>G | CA421058941 | RIT1 | c.*65T>C (n.*65T>C) c.228T>C (p.Arg76=) c.*7T>C (n.*7T>C) c.336T>C (p.Arg112=) c.339T>C (p.Arg113=) c.387T>C (p.Arg129=) | |
| 1 | g.155904404A>T | CA30984370 | RIT1 | c.*65T>A (n.*65T>A) c.228T>A (p.Arg76=) c.*7T>A (n.*7T>A) c.336T>A (p.Arg112=) c.339T>A (p.Arg113=) c.387T>A (p.Arg129=) | dbSNP |
| 1 | g.155904405C>A | CA342802453 | RIT1 | c.*64G>T (n.*64G>T) c.227G>T (p.Arg76Leu) c.*6G>T (n.*6G>T) c.335G>T (p.Arg112Leu) c.338G>T (p.Arg113Leu) c.386G>T (p.Arg129Leu) | gnomAD v4 |
| 1 | g.155904405C= | CA1200375933 | RIT1 | c.*64G= (n.*64G=) c.227G= (p.Arg76=) c.*6G= (n.*6G=) c.335G= (p.Arg112=) c.338G= (p.Arg113=) c.386G= (p.Arg129=) | |
| 1 | g.155904405C>G | CA342802449 | RIT1 | c.*64G>C (n.*64G>C) c.227G>C (p.Arg76Pro) c.*6G>C (n.*6G>C) c.335G>C (p.Arg112Pro) c.338G>C (p.Arg113Pro) c.386G>C (p.Arg129Pro) | |
| 1 | g.155904405C>T | CA342802451 | RIT1 | c.*64G>A (n.*64G>A) c.227G>A (p.Arg76His) c.*6G>A (n.*6G>A) c.335G>A (p.Arg112His) c.338G>A (p.Arg113His) c.386G>A (p.Arg129His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904406G>A | CA1151808 | RIT1 | c.*63C>T (n.*63C>T) c.226C>T (p.Arg76Cys) c.*5C>T (n.*5C>T) c.334C>T (p.Arg112Cys) c.337C>T (p.Arg113Cys) c.385C>T (p.Arg129Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155904406G>C | CA342802459 | RIT1 | c.*63C>G (n.*63C>G) c.226C>G (p.Arg76Gly) c.*5C>G (n.*5C>G) c.334C>G (p.Arg112Gly) c.337C>G (p.Arg113Gly) c.385C>G (p.Arg129Gly) | |
| 1 | g.155904406G= | CA1144079842 | RIT1 | c.*63C= (n.*63C=) c.226C= (p.Arg76=) c.*5C= (n.*5C=) c.334C= (p.Arg112=) c.337C= (p.Arg113=) c.385C= (p.Arg129=) | |
| 1 | g.155904406G>T | CA342802461 | RIT1 | c.*63C>A (n.*63C>A) c.226C>A (p.Arg76Ser) c.*5C>A (n.*5C>A) c.334C>A (p.Arg112Ser) c.337C>A (p.Arg113Ser) c.385C>A (p.Arg129Ser) | |
| 1 | g.155904407A>C | CA421058953 | RIT1 | c.*62T>G (n.*62T>G) c.225T>G (p.Val75=) c.*4T>G (n.*4T>G) c.333T>G (p.Val111=) c.336T>G (p.Val112=) c.384T>G (p.Val128=) | |
| 1 | g.155904407A>G | CA421058954 | RIT1 | c.*62T>C (n.*62T>C) c.225T>C (p.Val75=) c.*4T>C (n.*4T>C) c.333T>C (p.Val111=) c.336T>C (p.Val112=) c.384T>C (p.Val128=) | |
| 1 | g.155904407A>T | CA421058957 | RIT1 | c.*62T>A (n.*62T>A) c.225T>A (p.Val75=) c.*4T>A (n.*4T>A) c.333T>A (p.Val111=) c.336T>A (p.Val112=) c.384T>A (p.Val128=) | |
| 1 | g.155904408A>C | CA342802464 | RIT1 | c.*61T>G (n.*61T>G) c.224T>G (p.Val75Gly) c.*3T>G (n.*3T>G) c.332T>G (p.Val111Gly) c.335T>G (p.Val112Gly) c.383T>G (p.Val128Gly) | |
| 1 | g.155904408A>G | CA342802466 | RIT1 | c.*61T>C (n.*61T>C) c.224T>C (p.Val75Ala) c.*3T>C (n.*3T>C) c.332T>C (p.Val111Ala) c.335T>C (p.Val112Ala) c.383T>C (p.Val128Ala) | gnomAD v4 |
| 1 | g.155904408A>T | CA342802468 | RIT1 | c.*61T>A (n.*61T>A) c.224T>A (p.Val75Asp) c.*3T>A (n.*3T>A) c.332T>A (p.Val111Asp) c.335T>A (p.Val112Asp) c.383T>A (p.Val128Asp) | |
| 1 | g.155904409C>A | CA342802471 | RIT1 | c.*60G>T (n.*60G>T) c.223G>T (p.Val75Phe) c.*2G>T (n.*2G>T) c.331G>T (p.Val111Phe) c.334G>T (p.Val112Phe) c.382G>T (p.Val128Phe) | |
| 1 | g.155904409C>G | CA342802473 | RIT1 | c.*60G>C (n.*60G>C) c.223G>C (p.Val75Leu) c.*2G>C (n.*2G>C) c.331G>C (p.Val111Leu) c.334G>C (p.Val112Leu) c.382G>C (p.Val128Leu) | |
| 1 | g.155904409C>T | CA342802475 | RIT1 | c.*60G>A (n.*60G>A) c.223G>A (p.Val75Ile) c.*2G>A (n.*2G>A) c.331G>A (p.Val111Ile) c.334G>A (p.Val112Ile) c.382G>A (p.Val128Ile) | |
| 1 | g.155904410T>A | CA342802478 | RIT1 | c.*59A>T (n.*59A>T) c.222A>T (p.Glu74Asp) c.*1A>T (n.*1A>T) c.330A>T (p.Glu110Asp) c.333A>T (p.Glu111Asp) c.381A>T (p.Glu127Asp) | |
| 1 | g.155904410T>C | CA421058972 | RIT1 | c.*59A>G (n.*59A>G) c.222A>G (p.Glu74=) c.*1A>G (n.*1A>G) c.330A>G (p.Glu110=) c.333A>G (p.Glu111=) c.381A>G (p.Glu127=) | gnomAD v4 |
| 1 | g.155904410T>G | CA342802480 | RIT1 | c.*59A>C (n.*59A>C) c.222A>C (p.Glu74Asp) c.*1A>C (n.*1A>C) c.330A>C (p.Glu110Asp) c.333A>C (p.Glu111Asp) c.381A>C (p.Glu127Asp) | gnomAD v4 |
| 1 | g.155904411T>A | CA342802485 | RIT1 | c.*58A>T (n.*58A>T) c.221A>T (p.Glu74Val) c.306A>T (p.Ter102Cys) c.329A>T (p.Glu110Val) c.332A>T (p.Glu111Val) c.380A>T (p.Glu127Val) | |
| 1 | g.155904411T>C | CA342802487 | RIT1 | c.*58A>G (n.*58A>G) c.221A>G (p.Glu74Gly) c.306A>G (p.Ter102Trp) c.329A>G (p.Glu110Gly) c.332A>G (p.Glu111Gly) c.380A>G (p.Glu127Gly) | |
| 1 | g.155904411T>G | CA342802483 | RIT1 | c.*58A>C (n.*58A>C) c.221A>C (p.Glu74Ala) c.306A>C (p.Ter102Cys) c.329A>C (p.Glu110Ala) c.332A>C (p.Glu111Ala) c.380A>C (p.Glu127Ala) | |
| 1 | g.155904412C>A | CA342802495 | RIT1 | c.*57G>T (n.*57G>T) c.220G>T (p.Glu74Ter) c.305G>T (p.Ter102Leu) c.328G>T (p.Glu110Ter) c.331G>T (p.Glu111Ter) c.379G>T (p.Glu127Ter) | |
| 1 | g.155904412C>G | CA342802491 | RIT1 | c.*57G>C (n.*57G>C) c.220G>C (p.Glu74Gln) c.305G>C (p.Ter102Ser) c.328G>C (p.Glu110Gln) c.331G>C (p.Glu111Gln) c.379G>C (p.Glu127Gln) | |
| 1 | g.155904412C>T | CA342802493 | RIT1 | c.*57G>A (n.*57G>A) c.220G>A (p.Glu74Lys) c.305G>A (p.Ter102=) c.328G>A (p.Glu110Lys) c.331G>A (p.Glu111Lys) c.379G>A (p.Glu127Lys) | gnomAD v4 |
| 1 | g.155904413A= | CA1200375934 | RIT1 | c.*56T= (n.*56T=) c.219T= (p.His73=) c.304T= (p.Ter102=) c.327T= (p.His109=) c.330T= (p.His110=) c.378T= (p.His126=) | |
| 1 | g.155904413A>C | CA342802498 | RIT1 | c.*56T>G (n.*56T>G) c.219T>G (p.His73Gln) c.304T>G (p.Ter102Gly) c.327T>G (p.His109Gln) c.330T>G (p.His110Gln) c.378T>G (p.His126Gln) | |
| 1 | g.155904413A>G | CA421058986 | RIT1 | c.*56T>C (n.*56T>C) c.219T>C (p.His73=) c.304T>C (p.Ter102Arg) c.327T>C (p.His109=) c.330T>C (p.His110=) c.378T>C (p.His126=) | dbSNP |
| 1 | g.155904413A>T | CA342802500 | RIT1 | c.*56T>A (n.*56T>A) c.219T>A (p.His73Gln) c.304T>A (p.Ter102Arg) c.327T>A (p.His109Gln) c.330T>A (p.His110Gln) c.378T>A (p.His126Gln) | |
| 1 | g.155904414T>A | CA342802504 | RIT1 | c.*55A>T (n.*55A>T) c.218A>T (p.His73Leu) c.303A>T (p.Pro101=) c.326A>T (p.His109Leu) c.329A>T (p.His110Leu) c.377A>T (p.His126Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904414T>C | CA342802506 | RIT1 | c.*55A>G (n.*55A>G) c.218A>G (p.His73Arg) c.303A>G (p.Pro101=) c.326A>G (p.His109Arg) c.329A>G (p.His110Arg) c.377A>G (p.His126Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |